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Gene: Ren1 MGI:97898

Gene Summary

Name:

renin 1 structural

Synonyms:

Rnr, Ren1c, Ren-A, Ren-1, Rn-1, Ren, Ren1d

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

No results meet the p-value threshold

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Legacy Phenotype Associated Images

Ren1^{Ren-1c Enhancer KO}
head, WT, Female, WTSI

Ren1^{Ren-1c Enhancer KO}
forearm, WT, Female, WTSI

Ren1^{Ren-1c Enhancer KO}
body, WT, Female, WTSI

Ren1^{Ren-1c Enhancer KO}
head, WT, Female, WTSI

Ren1^{Ren-1c Enhancer KO}
forearm, WT, Female, WTSI

View all 139 images

Ren1^{Ren-1c Enhancer KO}
back skin, HOM, Female, WTSI

Human diseases caused by Ren1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Ren1 (2 diseases)
Human diseases predicted to be associated with Ren1 (1551 diseases)

The table below shows human diseases associated to Ren1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4		Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu...	OMIM:613092
Renal Tubular Dysgenesis		Renotubular dysgenesis, Abnormality of the urinary system, Anuria, Hypotension	OMIM:267430

The table below shows human diseases predicted to be associated to Ren1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:605115
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu...	OMIM:613092
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ...	OMIM:161900
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Hyperaldosteronism, Decreased circulat...	OMIM:103900
Nephrotic Syndrome, Type 6	Proteinuria, Edema, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segm...	OMIM:614196
Nephrotic Syndrome, Type 9	Proteinuria, Edema, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbum...	OMIM:615573
Focal Segmental Glomerulosclerosis 1	Proteinuria, Edema, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomeruloscle...	OMIM:603278
Focal Segmental Glomerulosclerosis 6	Proteinuria, Edema, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis...	OMIM:614131
Liddle Syndrome 1	Renal insufficiency, Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decrease...	OMIM:177200
Liddle Syndrome 2	Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l...	OMIM:618114
Liddle Syndrome 3	Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l...	OMIM:618126
Apparent Mineralocorticoid Excess	Hypokalemic metabolic alkalosis, Renal insufficiency, Abnormal urine sodium concentration, Nephro...	ORPHA:320
Nephrotic Syndrome, Type 2	Proteinuria, Edema, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomeruloscle...	OMIM:600995
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k...	OMIM:614817
Hypercalcemia, Infantile, 1	Failure to thrive, Polyuria, Hypercalcemia, Decreased circulating parathyroid hormone level, Neph...	OMIM:143880
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Elevated systolic blood pressure, Hypo...	OMIM:300539
Nephrotic Syndrome, Type 24	Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac...	OMIM:619263
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Nephronophthisis 7	Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy	OMIM:611498
Focal Segmental Glomerulosclerosis 2	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl...	OMIM:603965
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Nephrotic Syndrome, Type 23	Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome...	OMIM:619201
Pentosuria	Abnormal urine carbohydrate level, Abnormal circulating carbohydrate concentration, Abnormality o...	ORPHA:2843
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Polyuria, Hypercalciuria, Metabolic acidosis, Hypertension, Hypokalemia, Hyp...	OMIM:613677
Senior-Loken Syndrome 5	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:609254
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Hyperkalemia, Stage 5 chronic kidney disease, ...	OMIM:602088
His Bundle Tachycardia	Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia	ORPHA:3283
Focal Segmental Glomerulosclerosis 5	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypertension, Mi...	OMIM:613237
Nephronophthisis-Like Nephropathy 2	Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr...	OMIM:619468
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat...	ORPHA:567544
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Hypertension, Aminoaciduria, Glyco...	OMIM:618913
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Glycos...	OMIM:308990
Hypercalcemia, Infantile, 2	Failure to thrive, Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcin...	OMIM:616963
Nephrotic Syndrome, Type 26	Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta...	OMIM:620049
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Renal insufficiency, Proteinuria, Hematuria, Focal segmental glomerulosclerosis, Hypertension	OMIM:607832
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:301028
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:616032
Trimethylaminuria	Hypertension, Tachycardia, Trimethylaminuria	OMIM:602079
Nephrotic Syndrome, Type 17	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema...	OMIM:618176
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Hypertension,...	OMIM:256100
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities	Duplicated collecting system, Hydronephrosis	OMIM:163850
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Edema, Stage 5 chronic kidney disease, Focal segmental ...	OMIM:610725
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Aapoaiv Amyloidosis	Atrial flutter, Diabetes mellitus, Proteinuria, Abnormal cardiac ventricular function, Atrial fib...	ORPHA:439232
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy	Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus	OMIM:182690
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Orthostatic hypotension, Increased circulating corticosterone level, Renal salt was...	OMIM:610600
Nephronophthisis 12	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613820
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Hypertension, Multiple renal ...	OMIM:620056
Nephrotic Syndrome, Type 13	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:616893
Nephrotic Syndrome, Type 22	Nephrotic range proteinuria, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glo...	OMIM:619155
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Bartter Syndrome, Type 3	Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Hypokalemic metabolic alkalos...	OMIM:607364
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Sma...	OMIM:256300
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i...	OMIM:613944
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Hypokalemic hypoc...	OMIM:602522
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p...	ORPHA:3282
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hypertension, Polycystic kidney dysplasia, Reduced renal corticom...	OMIM:617610
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypercalciuria, Dehydration, Nephrocalcinosis, Metabolic acidosis, Hypokalemia, Distal renal tubu...	OMIM:602722
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Increased serum lacta...	OMIM:613845
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Elevated circulating creatine...	OMIM:614455
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Renal salt wasting, Hyperkalemia, Dehydration, Metabolic acidosis, Hyperactive reni...	OMIM:264350
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Pseudohypoaldosteronism, Type Iic	Hyperkalemia, Hypertension, Pseudohypoaldosteronism, Hyperchloremia, Decreased circulating renin ...	OMIM:614492
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Edema, Minimal chang...	ORPHA:567548
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Renal salt wasting, Hyperkalemia, Dehydration, Increased circulating renin level, H...	OMIM:203400
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Elevated left ventricular end-diastolic diameter, Polyuria, Dilated cardiomyopathy,...	OMIM:620152
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death	OMIM:107970
Galloway-Mowat Syndrome 8	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome...	OMIM:618349
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Me...	ORPHA:231625
Focal Segmental Glomerulosclerosis 9	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome	OMIM:616220
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt...	OMIM:610476
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric...	OMIM:614021
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,...	OMIM:604772
Vitamin B12-Responsive Methylmalonic Acidemia	Renal insufficiency, Failure to thrive, Hyperammonemia, Dehydration	ORPHA:28
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Glomerulopathy With Fibronectin Deposits 1	Glomerulopathy, Renal insufficiency, Proteinuria, Acidosis, Stage 5 chronic kidney disease, Lobul...	OMIM:137950
Hypocalcemia, Autosomal Dominant 1	Decreased circulating parathyroid hormone level, Hypercalciuria, Nephrolithiasis, Nephrocalcinosi...	OMIM:601198
Ochoa Syndrome	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi...	ORPHA:2704
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, D...	ORPHA:556030
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Metabo...	OMIM:611555
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Metabolic alkalosis, Nephrolithiasis, Hypertension, Hypokalemia, Second degree atrioventricular b...	OMIM:615474
Preeclampsia	Increased body mass index, Proteinuria, Abnormality of the kidney, Small for gestational age, Chr...	ORPHA:275555
Combined Malonic And Methylmalonic Aciduria	Ketoacidosis, Failure to thrive, Methylmalonic aciduria, Dehydration	OMIM:614265
Apparent Mineralocorticoid Excess	Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l...	OMIM:218030
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5...	OMIM:614377
Combined Malonic And Methylmalonic Acidemia	Dicarboxylic acidemia, Methylmalonic acidemia, Dicarboxylic aciduria, Acidosis, Ketoacidosis, Met...	ORPHA:289504
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,...	OMIM:145600
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge...	ORPHA:45453
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra...	OMIM:614723
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602087
Senior-Loken Syndrome 7	Nephronophthisis	OMIM:613615
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Gout, Focal se...	OMIM:617056
Primary Unilateral Adrenal Hyperplasia	Adrenal hyperplasia, Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary h...	ORPHA:231580
Senior-Loken Syndrome 4	Stage 5 chronic kidney disease, Polyuria, Nephronophthisis	OMIM:606996
Transient Neonatal Diabetes Mellitus	Small for gestational age, Abnormality of the kidney, Maternal diabetes, Maturity-onset diabetes ...	ORPHA:99886
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Focal Segmental Glomerulosclerosis 4, Susceptibility To	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:612551
Oligomeganephronia	Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Abnormal ...	ORPHA:2260
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Edema, Minimal change glomerulonephritis, ...	ORPHA:656
Catecholaminergic Polymorphic Ventricular Tachycardia	Syncope, Ventricular tachycardia, Sudden cardiac death	ORPHA:3286
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Nephronophthisis 18	Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri...	OMIM:615862
Type 1 Diabetes Mellitus	Ketoacidosis, Diabetes mellitus, Polyuria, Decreased level of 1,5 anhydroglucitol in serum	OMIM:222100
Alport Syndrome	Mesangial hypercellularity, Nephritis, Tubulointerstitial fibrosis, Glomerular C3 deposition, Thi...	ORPHA:63
Senior-Loken Syndrome	Hypertension, Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis	ORPHA:3156
Joubert Syndrome 4	Abnormal renal medulla morphology, Renal insufficiency, Stage 5 chronic kidney disease, Nephronop...	OMIM:609583
Coenzyme Q10 Deficiency, Primary, 8	Small for gestational age, Elevated circulating creatinine concentration, Hypertension, Abnormal ...	OMIM:616733
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Premature pubarche, Acne, Premature thelarche, Isosexual pr...	ORPHA:90795
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Hypotension	OMIM:620125
Variegate Porphyria	Increased urinary porphobilinogen, Tachycardia, Elevated urinary delta-aminolevulinic acid, Porph...	OMIM:176200
Oculorenocerebellar Syndrome	Glomerular sclerosis, Nephropathy	OMIM:257970
Isobutyryl-Coa Dehydrogenase Deficiency	Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, ...	ORPHA:79159
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602086
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Metabolic ketoacidosis, Cerebellar hemorrhage, Stage 5 chronic kidney dis...	OMIM:251000
Hypomagnesemia 3, Renal	Recurrent urinary tract infections, Failure to thrive, Polyuria, Hypocitraturia, Renal magnesium ...	OMIM:248250
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
Mitochondrial Complex I Deficiency, Nuclear Type 35	Elevated lactate:pyruvate ratio, Elevated urinary 4-hydroxybutyric acid, Nonimmune hydrops fetali...	OMIM:619003
Glycogen Storage Disease Iv	Failure to thrive, Polyhydramnios, Edema, Portal hypertension, Hydrops fetalis, Cardiomyopathy, A...	OMIM:232500
Iga Nephropathy, Susceptibility To, 1	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i...	OMIM:161950
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext...	ORPHA:329918
Coach Syndrome 3	Renal insufficiency, Stage 5 chronic kidney disease, Renal interstitial inflammation, Nephronopht...	OMIM:619113
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Methylmalonyl-Coa Epimerase Deficiency	Ketonuria, Dehydration, Elevated circulating palmitoleylcarnitine concentration, Methylmalonic ac...	OMIM:251120
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differentiation, Hema...	OMIM:263200
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased circulating cortisol level, Male hypogonadism, Micropenis, Decreased circulating renin ...	ORPHA:90793
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Aortic valve stenosis, Polycystic kidney dys...	OMIM:615382
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Dilated cardiomyopat...	OMIM:616730
Bartter Syndrome, Type 1, Antenatal	Hyperparathyroidism, Increased serum prostaglandin E2, Polyhydramnios, Renal salt wasting, Dehydr...	OMIM:601678
Coenzyme Q10 Deficiency, Primary, 6	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ...	OMIM:614650
Galloway-Mowat Syndrome 6	Proteinuria, Decreased response to growth hormone stimulation test, Nephrotic syndrome, Focal seg...	OMIM:618347
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Ring Chromosome 8 Syndrome	Abnormality of the ureter, Hydronephrosis, Polyhydramnios	ORPHA:1450
Dent Disease	Renal insufficiency, Hyperphosphaturia, Renal hypophosphatemia, Elevated circulating creatine kin...	ORPHA:1652
Cryoglobulinemia, Familial Mixed	Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Hy...	OMIM:123550
Galloway-Mowat Syndrome 5	Proteinuria, Edema, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Steroid-r...	OMIM:617731
Ectopic Aldosterone-Producing Tumor	Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Metabolic alkalosis, Hypertensi...	ORPHA:231632
Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Renal salt wasting, Decreased urinary potassium, Hyperkale...	ORPHA:427
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,...	OMIM:614916
Nephronophthisis 15	Nephronophthisis	OMIM:614845
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, E...	ORPHA:556037
Rhyns Syndrome	Hypopituitarism, Multicystic kidney dysplasia, Nephronophthisis	ORPHA:140976
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Increased circulating brain natriuretic peptide ...	OMIM:619747
Reni Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Edema, Mesangial hypercellularity...	OMIM:617575
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St...	OMIM:612925
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Giant cell hepatitis, Small for gestational age, Conjugated hyperbilirubinemia, Nephrogenic diabe...	OMIM:208085
2p15-16.1 microdeletion syndrome	Hydronephrosis	DECIPHER:70
Nephrotic Syndrome, Type 4	Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:256370
Nephrotic Syndrome, Type 12	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo...	OMIM:616892
Combined Oxidative Phosphorylation Deficiency 52	Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Increas...	OMIM:619386
Ventricular Fibrillation, Paroxysmal Familial, 1	Tachycardia, Syncope, Ventricular fibrillation	OMIM:603829
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia	OMIM:609909
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612926
Bartter Syndrome Type 4	Polyhydramnios, Renal salt wasting, Dehydration, Nephrocalcinosis, Increased circulating renin le...	ORPHA:89938
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Renal insufficiency, Hypokalemic hypochloremic metabolic alkalosi...	OMIM:613090
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Hypokalemic Tubulopathy And Deafness	Hyperaldosteronism, Increased circulating renin level, Renal salt wasting	OMIM:619406
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Arthritis, Nephritis	OMIM:216950
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Polyuria, Polyhydramnios, Hypercalciuria, Hypochloremia, Hypokalemia, Increased cir...	OMIM:300971
Nephronophthisis 14	Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri...	ORPHA:94088
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Elevated lactate:pyruvate ratio, Ketonuria, Metabolic ketoacidosis, Increased serum lactate, Keto...	OMIM:615453
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio...	OMIM:611528
Ocular Motor Apraxia	Nephronophthisis	OMIM:257550
Igg4-Related Retroperitoneal Fibrosis	Elevated circulating C-reactive protein concentration, Pedal edema, Large vessel vasculitis, Hash...	ORPHA:49041
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612924
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy...	OMIM:619897
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Abnormality of the urinary system, Hydronephrosis	ORPHA:2669
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium...	OMIM:618314
Hsd10 Disease, Neonatal Type	Metabolic acidosis, Lactic acidosis, Hypertrophic cardiomyopathy, Abnormal concentration of acylc...	ORPHA:391457
Coproporphyria, Hereditary	Hypertension, Tachycardia, Increased urinary porphobilinogen, Elevated urinary delta-aminolevulin...	OMIM:121300
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Proteinuria, Eczema, Edema, Minimal change glomerulonephritis, Dilat...	OMIM:618348
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr...	OMIM:612124
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Congenital Primary Megaureter	Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t...	ORPHA:617
Renal Glucosuria	Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia	OMIM:233100
Carnitine-Acylcarnitine Translocase Deficiency	Dicarboxylic aciduria, Cardiac arrest, Elevated circulating creatine kinase concentration, Ventri...	OMIM:212138
Analbuminemia	Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu...	OMIM:616000
Renal Hypoplasia, Bilateral	Hyponatremia, Failure to thrive, Proteinuria, Small for gestational age, Edema, Chronic kidney di...	ORPHA:97362
Interstitial Pneumonitis, Desquamative, Familial	Failure to thrive, Tubulointerstitial fibrosis	OMIM:263000
Hawkinsinuria	4-hydroxyphenylacetic aciduria, Abnormal circulating tyrosine concentration, 4-Hydroxyphenylpyruv...	ORPHA:2118
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Frasier Syndrome	Glomerulopathy, Renal insufficiency, Streak ovary, Hypergonadotropic hypogonadism, Proteinuria, I...	ORPHA:347
Cardiomyopathy, Familial Restrictive, 3	Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation...	OMIM:612422
Central Diabetes Insipidus	Hyponatremia, Dehydration, Weight loss, Failure to thrive, Diabetes insipidus, Nocturia	ORPHA:178029
3-Hydroxyisobutyric Aciduria	Ketoacidosis, Lactic acidosis, Aminoaciduria, Episodic ketoacidosis, Failure to thrive	OMIM:236795
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Hypokalemic alkalosis, Increased serum prostaglandin E2, Hypokalemia, Proximal tubulopathy, Incre...	OMIM:241150
Hyperaldosteronism, Familial, Type Iv	Hypertension, Hyperaldosteronism	OMIM:617027
Cardiomyopathy, Dilated, 1Ii	Increased left ventricular end-diastolic volume, Elevated circulating creatine kinase concentrati...	OMIM:615184
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Renal insufficiency, Hyperammonemia, Dehydration, Cardiomyopathy, Failure to thrive, Pancreatitis	ORPHA:79312
Blue Diaper Syndrome	Hypercalcemia, Elevated circulating thyroid-stimulating hormone concentration, Increased body wei...	ORPHA:94086
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal insufficiency, Gout, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decrease...	OMIM:162000
Atrial Fibrillation, Familial, 15	Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death	OMIM:615770
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Cerebr...	ORPHA:276621
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Palpebral edema, Edema, Minimal change glomerulonephritis, Facial edema, Pulmonary embolism, Hype...	ORPHA:567546
Galloway-Mowat Syndrome 2, X-Linked	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom...	OMIM:301006
Pyruvate Dehydrogenase Phosphatase Deficiency	Increased serum lactate, Lacticaciduria, Hyperprolinemia, Lactic acidosis, Hyperalaninemia	ORPHA:79246
Bartter Syndrome, Type 2, Antenatal	Increased serum prostaglandin E2, Polyhydramnios, Renal salt wasting, Dehydration, Nephrocalcinos...	OMIM:241200
Brugada Syndrome 1	Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso...	OMIM:601144
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Failure to thrive, Polyuria, Nephrogenic diabetes insipidus, Megacystis, Hypertonic dehydration, ...	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Failure to thrive, Polyuria, Megacystis, Hypertonic dehydration, Hypernatremia, Diabetes insipidus	OMIM:304800
Long Qt Syndrome 3	Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ...	OMIM:603830
Cardiomyopathy, Familial Hypertrophic, 16	Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy...	OMIM:613838
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Adrenocorticotropic hormone excess, Adrenal insufficiency, Hyperaldosteronism, Renal salt wasting	OMIM:613743
Renal Caliceal Diverticuli-Deafness Syndrome	Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th...	ORPHA:2838
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal...	ORPHA:251274
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology	OMIM:602114
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Alaninuria, Increased serum lactate, Metabolic acidosis	OMIM:615158
Immunodeficiency, Common Variable, 6	Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco...	OMIM:613496
Cystinosis	Renal insufficiency, Proteinuria, Portal hypertension, Nephrogenic diabetes insipidus, Dehydratio...	ORPHA:213
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased c...	OMIM:177735
Gitelman Syndrome	Prolonged QT interval, Salt craving, Polyuria, Renal magnesium wasting, Hypomagnesemia, Rhabdomyo...	OMIM:263800
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypokalemic metabolic alkalosis, Polyuria, Renal salt wasting, Elevated serum bicarbonate concent...	OMIM:612780
Drug-Induced Lupus Erythematosus	Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive...	ORPHA:231111
Combined Oxidative Phosphorylation Deficiency 9	Elevated lactate:pyruvate ratio, Increased serum lactate, Ketoacidosis, Metabolic acidosis, Tubul...	OMIM:614582
Corticosteroid-Binding Globulin Deficiency	Hypertension, Hypokalemia, Hypotension, Decreased urinary potassium	OMIM:611489
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Cardiomyopathy, Dilated, 1B	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con...	OMIM:600884
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Orthostatic hypotension, Sta...	OMIM:191800
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Supraventricular tachycardia, Cardiomyopathy, Organic aciduria, Elevated circulating creatine kin...	OMIM:255100
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent...	OMIM:615441
Acute Adrenal Insufficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Decreased urinary p...	ORPHA:95409
2P21 Microdeletion Syndrome	Nephrolithiasis, Cystinuria, Lactic acidosis, Hypogonadism, Hypocalcemia, Failure to thrive	ORPHA:163693
Juvenile Nephropathic Cystinosis	Dehydration, Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuri...	ORPHA:411634
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia	OMIM:614896
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Coenzyme Q10 Deficiency, Primary, 1	Hypergonadotropic hypogonadism, Recurrent myoglobinuria, Elevated circulating creatine kinase con...	OMIM:607426
Aa Amyloidosis	Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Renal amyloid...	ORPHA:85445
Joubert Syndrome 16	Renal cyst, Nephronophthisis	OMIM:614465
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Congenital adrenal hyperplasia, Long penis, Decreased circulating aldosterone level, Adrenogenita...	OMIM:202010
Hydroxykynureninuria	Renal tubular acidosis, Abnormal circulating tryptophan concentration, Tachycardia, Hypotension	ORPHA:79155
Propionic Acidemia	Increased level of hippuric acid in urine, Eczema, Cerebellar hemorrhage, Hyperglycinuria, Hypera...	OMIM:606054
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
Glucose-Galactose Malabsorption	Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Dehydration, Weight loss,...	ORPHA:35710
Hepatorenocardiac Degenerative Fibrosis	Portal hypertension, Renal cyst, Hypertrophic cardiomyopathy, Tubular luminal dilatation, Renal i...	OMIM:619902
Glomerulopathy With Fibronectin Deposits 2	Renal insufficiency, Proteinuria, Glomerular deposits, Glomerulomegaly, Stage 5 chronic kidney di...	OMIM:601894
Coenzyme Q10 Deficiency, Primary, 3	Proteinuria, Edema, Increased serum lactate, Nephrotic syndrome, Hypoalbuminemia	OMIM:614652
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Metabolic acidosis, Cardiomyopathy, Ethylmaloni...	ORPHA:26792
Orthostatic Hypotension 2	Orthostatic hypotension, Decreased glomerular filtration rate	OMIM:618182
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Decreased circulating cortisol level, Penoscrotal hypospadias, Hypospadias, Increas...	ORPHA:90791
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Macroscopic hematuria, Obes...	ORPHA:251004
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric...	OMIM:614954
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hyperamylasemia, Impaired renal tubular reabsorption of bicarbonate, Bicarbonate-wasting renal tu...	OMIM:604278
Hypouricemia, Renal, 1	Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub...	OMIM:220150
Orthostatic Intolerance	Orthostatic tachycardia, Elevated urinary norepinephrine level	OMIM:604715
Hyperaldosteronism, Familial, Type Ii	Hypertension, Hyperaldosteronism	OMIM:605635
Relapsing Fever	Tachycardia, Epistaxis, Elevated circulating C-reactive protein concentration, Elevated circulati...	ORPHA:91547
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachycardia, Heart block, Elevated circulating creatinine concentration, Capillary leak, Reduced ...	ORPHA:542323
Combined Oxidative Phosphorylation Deficiency 34	Hypergonadotropic hypogonadism, Increased serum lactate, Elevated circulating thyroid-stimulating...	OMIM:617872
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,...	OMIM:618920
Hereditary Pheochromocytoma-Paraganglioma	Positive regitine blocking test, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, P...	ORPHA:29072
Familial Renal Glucosuria	Recurrent urinary tract infections, Elevated hemoglobin A1c, Abnormal circulating insulin concent...	ORPHA:69076
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Colchicine Poisoning	Hyponatremia, Renal insufficiency, Abnormality of acid-base homeostasis, Congestive heart failure...	ORPHA:31824
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac...	OMIM:607450
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Increased urine succinate level, Increased serum lactate, Congestive heart failure, Decreased pla...	OMIM:619048
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death	OMIM:192605
Aicardi-Goutieres Syndrome 9	Edema, Hypoalbuminemia, Micropenis, Hypothyroidism, Chilblains, Portal hypertension, Pericardial ...	OMIM:619487
Glycogen Storage Disease Ia	Proteinuria, Hyperlipidemia, Nephrolithiasis, Gout, Lactic acidosis, Focal segmental glomeruloscl...	OMIM:232200
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Polyuria, Polyhydramnios, Pericardial effusion, Elevated circ...	OMIM:618183
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev...	OMIM:171420
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa...	ORPHA:1344
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Polyuria, Dehydration, Proximal tubulopathy, Type I diabetes mellitus, Failure to thrive	OMIM:560000
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyp...	ORPHA:171876
East Syndrome	Renal salt wasting, Renal magnesium wasting, Metabolic alkalosis, Enuresis, Hypokalemia, Hyperald...	ORPHA:199343
Renal Tubular Dysgenesis	Renotubular dysgenesis, Abnormality of the urinary system, Anuria, Hypotension	OMIM:267430
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i...	ORPHA:93126
Thrombotic Thrombocytopenic Purpura, Hereditary	Proteinuria, Transient ischemic attack, Myocardial infarction, Hemolytic-uremic syndrome, Increas...	OMIM:274150
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert...	OMIM:608758
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Tyrosinemia, Type I	Hypertyrosinemia, Gastrointestinal hemorrhage, Renal insufficiency, Failure to thrive, Elevated c...	OMIM:276700
Carnitine Deficiency, Systemic Primary	Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Congestive heart failu...	OMIM:212140
Beta-Ketothiolase Deficiency	Ketonuria, Edema, Increased serum lactate, Ketoacidosis, Dehydration, Hyperammonemia, Weight loss...	ORPHA:134
Snakebite Envenomation	Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral is...	ORPHA:449285
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N...	OMIM:179800
Hereditary Xanthinuria	Crystalluria, Recurrent urinary tract infections, Hypouricemia, Xanthine nephrolithiasis, Xanthin...	ORPHA:3467
Xanthinuria, Type I	Xanthine nephrolithiasis, Xanthinuria, Hyperxanthinemia, Pyelonephritis, Hydronephrosis	OMIM:278300
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Proteinuria, Pneumonia, Skin rash, Raynaud phenomenon, Elevated circ...	ORPHA:247691
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Idiopathic Neonatal Atrial Flutter	Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l...	ORPHA:45452
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Adrenal hyperplasia, Epistaxis, Nephrolithiasis, Abnormal circulating renin, Intracranial hemorrh...	ORPHA:369929
Vitamin B12-Unresponsive Methylmalonic Acidemia	Renal insufficiency, Hyperammonemia, Dehydration, Cardiomyopathy, Pancreatitis	ORPHA:27
Dihydropyrimidinase Deficiency	Elevated circulating dihydrouracil concentration, Elevated circulating uracil concentration, Meta...	OMIM:222748
Galactosemia I	Hypergonadotropic hypogonadism, Increased level of galactitol in plasma, Metabolic acidosis, Amin...	OMIM:230400
Thrombotic Thrombocytopenic Purpura	Renal insufficiency, Proteinuria, Myocardial infarction, Hematuria, Decreased serum creatinine, A...	ORPHA:54057
Gaisböck Syndrome	Hypertriglyceridemia, Diabetes mellitus, Angina pectoris, Myocardial infarction, Overweight, Hypo...	ORPHA:90041
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate	OMIM:242530
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Overriding aorta, Small for gestational age, Nonimmune hydrops fetalis, Increased serum lactate, ...	OMIM:617021
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis	OMIM:606995
Macdermot-Winter Syndrome	Hydronephrosis	OMIM:247990
Isovaleric Acidemia	Ketoacidosis, Cerebellar hemorrhage, Hyperglycinuria, Dehydration, Metabolic acidosis	OMIM:243500
Atrial Standstill 1	Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at...	OMIM:108770
Cholera	Hyponatremia, Tachycardia, Abnormality of renal excretion, Acidosis, Abnormal blood ion concentra...	ORPHA:173
Mitochondrial Trifunctional Protein Deficiency 2	Tricuspid regurgitation, Increased circulating NT-proBNP concentration, Elevated circulating crea...	OMIM:620300
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula...	ORPHA:730
Joubert Syndrome 15	Micropenis, Nephronophthisis	OMIM:614464
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:613550
Primary Fanconi Renotubular Syndrome	Bicarbonaturia, Dehydration, Low-molecular-weight proteinuria, Hypophosphatemic rickets, Hyperchl...	ORPHA:3337
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Metabolic acidosis, Myoglobinuria, Neonatal death, Dehydration	OMIM:602199
Nephronophthisis 19	Renal interstitial fibrosis, Stage 5 chronic kidney disease, Nephronophthisis, Hyperechogenic kid...	OMIM:616217
Long Qt Syndrome 2	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613688
Adrenal Hypoplasia, Congenital	Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl...	OMIM:300200
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Nephrocalcinosis, Lactic acidosis, Inflammation of the large intestine, Periodontitis, Hypothyroi...	ORPHA:79259
Primary Hyperoxaluria Type 1	Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ...	ORPHA:93598
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia...	OMIM:603860
Senior-Boichis Syndrome	Polydipsia, Thickening of the tubular basement membrane, Portal hypertension, Aggressive behavior...	ORPHA:84081
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormality of thyroid physiology, Acidosis, Abnormal blood ion concentration,...	ORPHA:411629
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Nephrocalcinosis, Metabolic acidosis, Hypokalemia, Distal renal tubular acidosis, Fa...	OMIM:611590
Nephrogenic Diabetes Insipidus	Renal insufficiency, Hydroureter, Anorexia, Nephrogenic diabetes insipidus, Functional abnormalit...	ORPHA:223
Jervell And Lange-Nielsen Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval	OMIM:220400
Microvillus Inclusion Disease	Hypovolemia, Dehydration, Nephrocalcinosis, Metabolic acidosis, Abnormal renal physiology	ORPHA:2290
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Giant cell hepatitis, Proteinuria, Conjugated hyperbilirubinemia, Nephrogenic diabetes insipidus,...	OMIM:613404
Acute Peripheral Arterial Occlusion	Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Supraventricular tachyc...	ORPHA:90064
Dopamine Beta-Hydroxylase Deficiency	Abnormal EKG, Orthostatic hypotension, Elevated urinary dopamine level, Hyperinsulinemia, Elevate...	ORPHA:230
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Weight loss, Lactic acidosis, Aminoaciduria, Proximal tubulopathy, Severe lactic acidos...	OMIM:612075
Galloway-Mowat Syndrome 4	Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d...	OMIM:617730
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection...	ORPHA:66529
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Hydroureter, Diabetes mellitus, Megaloblastic anemia, Optic atrophy, Abnorm...	OMIM:598500
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Obesity Due To Sim1 Deficiency	Postural hypotension with compensatory tachycardia, Hypotension	ORPHA:369873
Distal Renal Tubular Acidosis	Hyperphosphaturia, Failure to thrive, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria...	ORPHA:18
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal insufficiency, Hyperkalemia, Renal hypoplasia, Tubulointers...	OMIM:617595
Wolcott-Rallison Syndrome	Hyponatremia, Renal insufficiency, Neonatal insulin-dependent diabetes mellitus, Ketoacidosis, Ch...	ORPHA:1667
Long Qt Syndrome 6	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613693
Glucose/Galactose Malabsorption	Metabolic acidosis, Failure to thrive, Hypertonic dehydration, Glycosuria	OMIM:606824
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3	Lactic acidosis, Hypertrophic cardiomyopathy, 3-Methylglutaconic aciduria	OMIM:614053
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Hypertension, Polycystic kidney dysplasia, D...	OMIM:618061
Jeune Syndrome	Nephropathy, Renal insufficiency, Nephronophthisis	ORPHA:474
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant	Lactic acidosis, Hypertrophic cardiomyopathy, Organic aciduria, Neonatal death	OMIM:617184
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com...	OMIM:194200
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hyperphosphaturia, Diabetes mellitus, Proteinuria, Hypouricemia, Large for gestational age, Nephr...	OMIM:616026
Cystinosis, Nephropathic	Dehydration, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophospha...	OMIM:219800
Carnitine-Acylcarnitine Translocase Deficiency	Elevated creatine kinase after exercise, Dicarboxylic aciduria, Elevated circulating acylcarnitin...	ORPHA:159
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Elevated circulating creatine kinase concentration, Ketoacidosis, Dilated cardiomyopathy, Hyperam...	OMIM:618120
Infant Acute Respiratory Distress Syndrome	Tachycardia, Bradycardia, Cardiac arrest, Hypotension	ORPHA:70587
Glycogen Storage Disease Ic	Renal insufficiency, Proteinuria, Spider hemangioma, Chronic pancreatitis, Hyperlipidemia, Gout, ...	OMIM:232240
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension...	ORPHA:403
Glycogen Storage Disease Ib	Proteinuria, Hyperlipidemia, Nephrolithiasis, Gout, Lactic acidosis, Focal segmental glomeruloscl...	OMIM:232220
Senior-Loken Syndrome 9	Tubulointerstitial nephritis, Hypogonadism, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:616629
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Myoglobinuria, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Raynaud phenomenon, Arterial...	OMIM:259900
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To	Metabolic acidosis, Increased level of L-pyroglutamic acid in urine	OMIM:231900
Frasier Syndrome	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:136680
Combined Oxidative Phosphorylation Deficiency 5	Edema, Increased serum lactate, Hyperammonemia, Lactic acidosis, Metabolic acidosis, Hypertrophic...	OMIM:611719
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Orthostatic Hypotensive Disorder, Streeten Type	Orthostatic hypotension, Syncope	OMIM:143850
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Dehydration, Increa...	ORPHA:168558
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level	OMIM:620126
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti...	ORPHA:289548
Thyrocerebrorenal Syndrome	Renal insufficiency, Euthyroid goiter, Nephritis	ORPHA:3327
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Elevated circulating creatinine concentration, Metabolic acidosis, Glycosuria,...	OMIM:615605
Perry Syndrome	Hypotension	ORPHA:178509
Mercury Poisoning	Tachycardia, Hypertension, Hypokalemia, Hypotension, Acute kidney injury	ORPHA:330021
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Orthostatic hypotension, Tachycardia, Elevated circulating creatinine concentration, Hypertension...	OMIM:223900
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Gout, Hyperuricosuri...	ORPHA:79233
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye...	ORPHA:93110
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Stage 5 chronic k...	OMIM:614376
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c...	ORPHA:404
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Ketonuria, Increased serum lactate, Renal hypoplasia, Metabolic acidosis, Hypertrophic cardiomyop...	OMIM:619053
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Hypertension, Renal cor...	OMIM:613159
Pyruvate Dehydrogenase E3 Deficiency	Increased urine alpha-ketoglutarate concentration, Abnormal cardiac ventricular function, Elevate...	ORPHA:2394
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Hyperammonemia, ...	OMIM:251100
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria...	ORPHA:99105
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis	OMIM:619428
Attrv30M Amyloidosis	Atrioventricular block, Cardiomyopathy, Abnormal autonomic nervous system physiology, Nephropathy...	ORPHA:85447
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hyperphosphaturia, Hypercalcemia, Polyuria, Primary hyperparathyroidism, Hypercalciur...	OMIM:239200
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Proteinuria, Edema, Stage 5 chronic kidney disease, Coarctation of a...	OMIM:617729
Lipoyltransferase 1 Deficiency	Increased serum lactate, Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninuria, Lactic a...	OMIM:616299
Bardet-Biedl Syndrome 19	Renal insufficiency, Renal hypoplasia, Obesity, Hypogonadism, Hydronephrosis	OMIM:615996
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Ketonuria, Methylmalonic aciduria, Hyperammonemia, Dehydration, Metabolic...	OMIM:251110
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Edema, Absence of renal corticomedu...	OMIM:120330
Schimke Immuno-Osseous Dysplasia	Failure to thrive, Proteinuria, Abnormality of thyroid physiology, Small for gestational age, Min...	ORPHA:1830
Image Syndrome	Hypospadias, Hypogonadism, Hydronephrosis, Adrenal hypoplasia	ORPHA:85173
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Renal insufficiency, Proteinuria, Edema, Nephrotic syndrome, Focal segmental glom...	OMIM:254900
Long Qt Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,...	OMIM:192500
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Lactic acidosis, Dicarboxylic aciduria, Metabol...	OMIM:615026
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Hydroureter, Hydronephrosis, Pulmonic stenosis	OMIM:264140
Tiglic Acidemia	Aminoaciduria, Acidosis	OMIM:275190
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Elevated urinary 3-hydroxybutyric acid, Respiratory alkalosis, Ketonuria, Increased serum lactate...	OMIM:615751
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Atrial fibrillatio...	ORPHA:976
Glycogen Storage Disease Xi	Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinase concentration...	OMIM:612933
Nephrotic Syndrome, Type 8	Diffuse mesangial sclerosis, Proteinuria, Edema, Chronic kidney disease, Stage 5 chronic kidney d...	OMIM:615244
Nephrotic Syndrome, Type 7	Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic...	OMIM:615008
C3 Glomerulopathy 3	Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St...	OMIM:614809
8P23.1 Duplication Syndrome	Adrenal insufficiency, Hydronephrosis, Pulmonic stenosis	ORPHA:251076
Systemic Capillary Leak Syndrome	Pericarditis, Renal insufficiency, Myocarditis, Oliguria, Hypotension, Arrhythmia, Abnormal renal...	ORPHA:188
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Tachycardia, Syncope, Premature ventricular contraction	OMIM:192445
Gracile Syndrome	Increased serum pyruvate, Increased circulating ferritin concentration, Chronic lactic acidosis, ...	OMIM:603358
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Dark urine, Tachycardia, Recurrent myoglobinuria, Elevated circulating creatine kinase concentrat...	ORPHA:368
Andersen-Tawil Syndrome	Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil...	ORPHA:37553
Lessel-Kubisch Syndrome	Hypertension, Renal insufficiency, Hypogonadism, Renal hypoplasia	OMIM:618681
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Hypovolemia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephr...	ORPHA:47159
Inflammatory Skin And Bowel Disease, Neonatal, 2	Polyhydramnios, Pustule, Recurrent pneumonia, Dehydration, Coarctation of aorta, Hypertension, Fa...	OMIM:616069
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Edema, Hypoal...	ORPHA:36234
Bardet-Biedl Syndrome 17	Polyuria, Stage 5 chronic kidney disease, Renal cyst, Obesity, Hypogonadism, Micropenis	OMIM:615994
Sulfite Oxidase Deficiency, Isolated	Sulfocysteinuria, Elevated circulating creatine kinase concentration, Eczema, Increased urinary s...	OMIM:272300
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,...	OMIM:235400
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr...	ORPHA:189427
Arima Syndrome	Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Renal corticomedu...	OMIM:243910
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:203780
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio...	OMIM:617280
Drug-Induced Autoimmune Hemolytic Anemia	Congestive heart failure, Tachycardia, Abnormal urinary color, Increased total bilirubin	ORPHA:90037
Pure Autonomic Failure	Anhidrosis, Orthostatic hypotension, Dysuria, Urinary incontinence, Abnormality of circulating ca...	ORPHA:441
X-Linked Intellectual Disability, Schimke Type	Vesicoureteral reflux, Failure to thrive in infancy, Hydronephrosis	ORPHA:85285
Addison Disease	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti...	ORPHA:85138
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein c...	OMIM:613095
Gitelman Syndrome	Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Tubulointerstitial nephriti...	ORPHA:358
Netherton Syndrome	Skin rash, Eczema, Ectopic kidney, Dehydration, Aminoaciduria, Erythroderma, Hydronephrosis	ORPHA:634
Hinman Syndrome	Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone...	ORPHA:84085
Mitochondrial Pyruvate Carrier Deficiency	Increased serum pyruvate, Lactic acidosis, Organic aciduria, Increased serum lactate	OMIM:614741
Joubert Syndrome 7	Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis	OMIM:611560
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu...	OMIM:115000
Senior-Loken Syndrome 8	Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidn...	OMIM:616307
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Ataxia, Hypertension, Cardiomyopathy, Hyperuricemia, Arrhythmia	ORPHA:3222
Alstrom Syndrome	Decreased HDL cholesterol concentration, Chronic active hepatitis, Decreased response to growth h...	OMIM:203800
Liddle Syndrome	Renal insufficiency, Hypertension, Hypokalemia, Cerebral ischemia, Nephropathy, Arrhythmia	ORPHA:526
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:613424
46,Xy Sex Reversal 4	Renal dysplasia, Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, I...	OMIM:154230
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve...	OMIM:609040
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ...	OMIM:612347
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
Combined Oxidative Phosphorylation Deficiency 24	Metabolic alkalosis, Focal segmental glomerulosclerosis, Increased serum lactate, Elevated circul...	OMIM:616239
Urofacial Syndrome 2	Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti...	OMIM:615112
Leber Hereditary Optic Neuropathy	Arrhythmia, Ataxia, Ventricular preexcitation, Retinal telangiectasia	ORPHA:104
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo...	OMIM:609057
Wild Type Attr Amyloidosis	Abnormal EKG, Renal insufficiency, Proteinuria, Myocardial infarction, Congestive heart failure, ...	ORPHA:330001
Diarrhea 4, Malabsorptive, Congenital	Failure to thrive, Hyperchloremic metabolic acidosis, Dehydration	OMIM:610370
Hypotonia-Cystinuria Syndrome	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Increased ...	OMIM:606407
Epidermolysis Bullosa Simplex With Pyloric Atresia	Renal dysplasia, Elevated circulating creatine kinase concentration, Polyhydramnios, Abnormality ...	ORPHA:158684
Nipah Virus Disease	Hypotension	ORPHA:99825
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav...	ORPHA:101016
Holzgreve Syndrome	Renal agenesis, Renal hypoplasia	OMIM:236110
Mitochondrial Complex I Deficiency, Nuclear Type 18	Lactic acidosis, Hydroureter, Hydronephrosis	OMIM:618240
Nephrotic Syndrome, Type 15	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ...	OMIM:617609
Neuroleptic Malignant Syndrome	Elevated circulating creatine kinase concentration, Urinary incontinence, Pulmonary embolism, Deh...	ORPHA:94093
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Proteinuria, Abnormality of the kidney, Hyperlipidemia, Postprandial hyperlactemia, Delayed puber...	ORPHA:369
3-Methylglutaconic Aciduria Type 4	Lactic acidosis, Cardiomyopathy, Failure to thrive, 3-Methylglutaconic aciduria	ORPHA:67048
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Precocious puberty, Hyper...	OMIM:614736
Combined Oxidative Phosphorylation Deficiency 10	Failure to thrive, Small for gestational age, Pericardial effusion, Increased serum lactate, Hype...	OMIM:614702
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Polyhydramnios, Metabolic alkalosis, Elevated serum bicarbonate concentration, Dehy...	OMIM:214700
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased...	OMIM:620085
Rhyns Syndrome	Renal insufficiency, Decreased response to growth hormone stimulation test, Chronic kidney diseas...	OMIM:602152
Helix Syndrome	Renal insufficiency, Hyperparathyroidism, Polyuria, Hypermagnesemia, Nephrolithiasis, Xerostomia,...	OMIM:617671
Long Qt Syndrome 12	Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes	OMIM:612955
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ...	ORPHA:564178
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Elevated circulating creatine kinase concentration, Increased serum lactate, Chronic kidney disea...	ORPHA:324525
Congenital Tricuspid Stenosis	Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,...	ORPHA:95459
Coach Syndrome 2	Hypertension, Hyperechogenic kidneys, Elevated circulating creatinine concentration	OMIM:619111
Pheochromocytoma	Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev...	OMIM:171300
Glycogen Storage Disease Due To Aldolase A Deficiency	Myoglobinuria, Hyperkalemia, Arrhythmia, Elevated creatine kinase after exercise, Acute kidney in...	ORPHA:57
Hyperinsulinism Due To Ucp2 Deficiency	Tachycardia, Decreased circulating free fatty acid level, Syncope, Palpitations, Hypertrophic car...	ORPHA:276556
Heme Oxygenase 1 Deficiency	Proteinuria, Epistaxis, Elevated circulating C-reactive protein concentration, Diffuse alveolar h...	OMIM:614034
Fanconi-Bickel Syndrome	Hyperphosphaturia, Diabetes mellitus, Hypertriglyceridemia, Hypercalciuria, Generalized aminoacid...	ORPHA:2088
Lethal Infantile Mitochondrial Myopathy	Cardiomyopathy, Renal insufficiency, Severe lactic acidosis	ORPHA:254857
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,...	OMIM:604169
Cat-Eye Syndrome	Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia	ORPHA:195
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Ataxia, Renal insufficiency, Cong...	ORPHA:31826
Multiple Endocrine Neoplasia, Type Iia	Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Elevated urinary norepine...	OMIM:171400
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Mitochondrial Complex I Deficiency, Nuclear Type 33	Small for gestational age, Hypospadias, Increased serum lactate, Bronchiectasis, Hyperammonemia, ...	OMIM:618253
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Dilated cardiomyopathy, Atrioventricular block, Supraventric...	OMIM:612158
Brugada Syndrome 8	Right bundle branch block, ST segment elevation, Ventricular tachycardia	OMIM:613123
Schimke Immunoosseous Dysplasia	Renal insufficiency, Proteinuria, Small for gestational age, Transient ischemic attack, Elevated ...	OMIM:242900
Multiple Mitochondrial Dysfunctions Syndrome 1	Increased urine alpha-ketoglutarate concentration, Increased serum lactate, Hyperglycinuria, Lact...	OMIM:605711
Uremic Pruritus	Inflammatory abnormality of the skin, Renal hypophosphatemia, Hypercalcemia, Recurrent skin infec...	ORPHA:94059
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, E...	ORPHA:228308
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Decreased circulating cortisol level, Renal salt wasting, Dehydration, Hyperkalemic metabolic aci...	ORPHA:90794
Multiple Mitochondrial Dysfunctions Syndrome 3	Elevated lactate:pyruvate ratio, Polyhydramnios, Lactic acidosis, Metabolic acidosis, Hyperglycin...	OMIM:615330
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits...	ORPHA:449395
Short Qt Syndrome 3	Shortened QT interval, Tachycardia, Palpitations	OMIM:609622
Fibronectin Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Hypertension, Nephrotic sy...	ORPHA:84090
Isolated Atp Synthase Deficiency	Dilated cardiomyopathy, Renal hypoplasia, Hyperammonemia, Lactic acidosis, 3-Methylglutaconic aci...	ORPHA:254913
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C...	OMIM:115200
Orthostatic Hypotension 1	Orthostatic hypotension, Atrial fibrillation, Reduced circulating prolactin concentration, Increa...	OMIM:223360
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
3-Methylglutaconic Aciduria, Type I	Metabolic acidosis, Failure to thrive, 3-Methylglutaconic aciduria, Urinary incontinence	OMIM:250950
3-Hydroxy-3-Methylglutaric Aciduria	Acute pancreatitis, Ketonuria, Cardiac arrest, Edema, Increased serum lactate, Dilated cardiomyop...	ORPHA:20
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Increased level of hippuric acid in urine, Glutaric aciduria, Hyperammonemia, Metabolic acidosis,...	OMIM:246450
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia, Hypoproteinemia	OMIM:221400
Hemorrhagic Fever-Renal Syndrome	Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis...	ORPHA:340
Mucopolysaccharidosis-Plus Syndrome	Proteinuria, Congestive heart failure, Recurrent pneumonia, Nephrotic syndrome, Focal segmental g...	OMIM:617303
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Ureteral duplication, Renal insufficiency, Elevated circulating creatine kinase ...	OMIM:608836
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Teratoma, Pineal	Polydipsia, Polyuria	OMIM:273120
Panhypophysitis	Hyponatremia, Orthostatic hypotension, Decreased circulating cortisol level, Polydipsia, Reduced ...	ORPHA:95513
Pyruvate Carboxylase Deficiency	Increased serum pyruvate, Increased serum lactate, Proximal renal tubular acidosis, Lactic acidos...	OMIM:266150
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Abnormal medullary pyramid morphology	ORPHA:79243
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Increased serum lactate, Hyperammonemia, Lactic acidosis, 3-Methylglutaconic aciduria, Hyperalani...	OMIM:614739
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinase concentration...	ORPHA:2364
Joubert Syndrome 3	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:608629
Mitochondrial Complex I Deficiency, Nuclear Type 29	Elevated lactate:pyruvate ratio, Increased serum lactate, Stage 5 chronic kidney disease, Lactica...	OMIM:618250
Hereditary Coproporphyria	Hyponatremia, Dark urine, Tachycardia, Abnormal circulating porphyrin concentration, Porphyrinuri...	ORPHA:79273
Combined Oxidative Phosphorylation Deficiency 11	Renal insufficiency, Polyhydramnios, Increased serum lactate, Renal hypoplasia, Renal cyst, Lacti...	OMIM:614922
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Tachycardia, Decreased circulating free fatty acid level, Syncope, Palpitations, Hypertrophic car...	ORPHA:276575
Diabetes Mellitus, Transient Neonatal, 1	Severe failure to thrive, Transient neonatal diabetes mellitus, Dehydration	OMIM:601410
Urofacial Syndrome 1	Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ...	OMIM:236730
Tetanus	Tachycardia, Elevated circulating creatine kinase concentration, Elevated urinary norepinephrine ...	ORPHA:3299
Congenital Isolated Acth Deficiency	Hyponatremia, Hyperkalemia, Hypotension	ORPHA:199296
Genetic Recurrent Myoglobinuria	Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka...	ORPHA:99845
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Peripartum Cardiomyopathy	Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card...	ORPHA:563
Legionnaires Disease	Hyponatremia, Pericarditis, Renal insufficiency, Ataxia, Proteinuria, Myocarditis, Hematuria, Hyp...	ORPHA:549
Igg4-Related Aortitis	Increased inflammatory response, Thoracic aortic aneurysm, Elevated circulating C-reactive protei...	ORPHA:449400
Acquired Central Diabetes Insipidus	Pollakisuria, Polydipsia, Diabetes insipidus	ORPHA:95626
Vesicoureteral Reflux 2	Vesicoureteral reflux, Renal hypoplasia	OMIM:610878
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hyponatremia, Hypotension	ORPHA:91354
Primary Hyperoxaluria	Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Heart block, Raynaud phenomenon, Arteri...	ORPHA:416
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Palpitations, Hypertrophic cardiom...	OMIM:613873
Myh9-Related Disease	Spontaneous, recurrent epistaxis, Renal insufficiency, Proteinuria, Myocardial infarction, Nephro...	ORPHA:182050
Combined Oxidative Phosphorylation Deficiency 8	Increased serum lactate, Congestive heart failure, Lactic acidosis, Metabolic acidosis, Reduced l...	OMIM:614096
Mitochondrial Trifunctional Protein Deficiency 1	Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati...	OMIM:609015
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Sudden cardiac death, Abnormal renal tubular resorption, Congestive heart failure, Dilated cardio...	ORPHA:73224
Pediatric-Onset Graves Disease	Hyperactivity, Atrial fibrillation, Puberty and gonadal disorders, Congestive heart failure, Thyr...	ORPHA:525731
Bardet-Biedl Syndrome 9	Renal insufficiency, Polydipsia, Polyphagia	OMIM:615986
Coach Syndrome 1	Unilateral renal agenesis, Portal hypertension, Multiple small medullary renal cysts, Stage 5 chr...	OMIM:216360
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Hydronephrosis	OMIM:235760
Glycogen Storage Disease Xv	ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver...	OMIM:613507
Brugada Syndrome 3	Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar...	OMIM:611875
Lysosomal Acid Lipase Deficiency	Adrenal calcification, Bone-marrow foam cells, Renal salt wasting, Precocious atherosclerosis, De...	ORPHA:275761
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Increased serum lactate, Proximal renal tubular acidosis, Lactic acidosis, Metabolic acidosis, Fa...	OMIM:615824
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block	OMIM:615616
Hereditary Arterial And Articular Multiple Calcification Syndrome	Arterial occlusion, Abnormal cardiovascular system physiology, Decreased serum creatinine	ORPHA:289601
Amelogenesis Imperfecta, Type Ig	Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis	OMIM:204690
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Lactic acidosis, Aminoaciduria, Elevated circulating creatine kinase concentration	OMIM:609560
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypospadias, Dilated cardiomyopathy, Hydrops fetalis, Lactic acidosis, Hypertrophic cardiomyopath...	OMIM:618815
Hawkinsinuria	Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Metabolic acid...	OMIM:140350
Vesicoureteral Reflux 3	Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec...	OMIM:613674
Fabry Disease	Renal insufficiency, Proteinuria, Angina pectoris, Myocardial infarction, Transient ischemic atta...	OMIM:301500
Nephrotic Syndrome, Type 21	Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro...	OMIM:618594
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Glomerulopathy, Ketonuria, Renal insufficiency, Pulmon...	ORPHA:79282
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Anuria, Myocardial infarction, Peritonitis, Elevated circulating creatinine concent...	ORPHA:90038
Multiple Acyl-Coa Dehydrogenase Deficiency	Acute pancreatitis, Elevated circulating creatine kinase concentration, Elevated circulating acyl...	ORPHA:26791
Kleine-Levin Syndrome	Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio...	ORPHA:33543
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Hypokalemia, Palpitations	OMIM:188580
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Chronic kidney disease, Nephronophthisis	OMIM:615630
Mitochondrial Complex I Deficiency, Nuclear Type 26	Elevated lactate:pyruvate ratio, Increased serum lactate, Metabolic acidosis, Lacticaciduria	OMIM:618247
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Frequent temper tantrums, Pulmonic stenosis, Fac...	OMIM:620141
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Acute hyperammonemia, Ketonuria, Seborrheic dermatitis, Ketoacidosis, Hyperglycinuria, Hyperammon...	OMIM:210210
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy...	ORPHA:228302
Fanconi Anemia, Complementation Group O	Hydronephrosis, Neonatal death, Stage 5 chronic kidney disease, Renal cyst	OMIM:613390
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c...	OMIM:201750
Orofaciodigital Syndrome Xv	Hydronephrosis	OMIM:617127
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Hypertension, Tachycardia, Micropenis	OMIM:613870
Systemic Lupus Erythematosus	Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis	OMIM:152700
Lamellar Ichthyosis	Chronic otitis media, Renal insufficiency, Dehydration, Erythroderma	ORPHA:313
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Tachycardia, Syncope, Palpitations, Hypertrophic cardiomyopathy, Increased C-peptide level	ORPHA:276580
Acyl-Coa Dehydrogenase 9 Deficiency	Dicarboxylic aciduria, Sudden cardiac death, Elevated circulating acylcarnitine concentration, In...	ORPHA:99901
Alport Syndrome 1, X-Linked	Hypoparathyroidism, Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, T...	OMIM:301050
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Elevated lactat...	ORPHA:3008
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ...	OMIM:194080
Hyperthyroidism, Familial Gestational	Tachycardia	OMIM:603373
Pediatric Systemic Lupus Erythematosus	Dark urine, Renal insufficiency, Myositis, Proteinuria, Skin rash, Edema, Pericardial effusion, R...	ORPHA:93552
Melas	Wolff-Parkinson-White syndrome, Lactic acidosis, Nephropathy, Hypothyroidism, Hypoparathyroidism,...	ORPHA:550
Meningococcal Meningitis	Shock, Renal insufficiency, Elevated circulating C-reactive protein concentration, Hypotension	ORPHA:33475
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology	OMIM:609886
Hyperinsulinism Due To Hnf1A Deficiency	Tachycardia, Decreased circulating free fatty acid level, Syncope, Palpitations, Increased C-pept...	ORPHA:324575
Joubert Syndrome 35	Recurrent urinary tract infections, Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis	OMIM:618161
Thyrocerebroretinal Syndrome	Nephritis, Goiter	OMIM:274240
Combined Oxidative Phosphorylation Deficiency 47	Increased serum lactate, Failure to thrive, Metabolic acidosis, Dehydration	OMIM:618958
Malonyl-Coa Decarboxylase Deficiency	Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy, Methylmalonic aciduria, La...	OMIM:248360
Renal Cysts And Diabetes Syndrome	Diabetes mellitus, Hypospadias, Abnormality of the kidney, Maturity-onset diabetes of the young, ...	OMIM:137920
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Elevated lactate:pyruvate ratio, Lacticaciduria, Methylmalonic aciduria, Lactic acidosis, Hypergl...	OMIM:245400
Osteopetrosis, Autosomal Recessive 9	Hyperparathyroidism, Stage 3 chronic kidney disease, Elevated circulating creatinine concentratio...	OMIM:620366
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Viral hepatitis, Renal insufficiency, Membranoproliferative glomerul...	ORPHA:91139
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Polydipsia, Renal hamartoma, Hypercalcemia, Shortened QT interval, Primary h...	ORPHA:99880
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	ST segment elevation, Ventricular tachycardia, Right bundle branch block, Cardiomyopathy, T-wave ...	ORPHA:263297
Lactase Deficiency, Congenital	Metabolic acidosis, Dehydration	OMIM:223000
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Ketonuria, Elevated circulating creatine kinase concentration, Premature thelarche, Cardiac arres...	OMIM:616878
Dengue Fever	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Hypotension, Hypoproteinemia	ORPHA:99828
2,4-Dienoyl-Coa Reductase Deficiency	Increased serum lactate, Metabolic acidosis, Hyperlysinuria, Decreased plasma free carnitine, Fai...	OMIM:616034
Spondyloenchondrodysplasia With Immune Dysregulation	Pneumonia, Raynaud phenomenon, Joint swelling, Rheumatoid arthritis, Recurrent sinusitis, Recurre...	OMIM:607944
Pearson Syndrome	Elevated lactate:pyruvate ratio, Decreased response to growth hormone stimulation test, Hydrops f...	ORPHA:699
Cardiomyopathy, Familial Hypertrophic, 8	Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve...	OMIM:608751
Naxos Disease	Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi...	ORPHA:34217
Lethal Congenital Contracture Syndrome 2	Dilated cardiomyopathy, Polyhydramnios, Hydronephrosis, Edema	OMIM:607598
Sengers Syndrome	Cardiac arrest, Sudden cardiac death, Increased serum lactate, Lactic acidosis, Hypertrophic card...	OMIM:212350
Cardiomyopathy, Familial Hypertrophic, 7	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Atrial fibrillation, Apical hypertro...	OMIM:613690
Infant Botulism	Hyponatremia, Hypertension, Cardiac arrest, Hypotension	ORPHA:178478
Autosomal Dominant Hypocalcemia	Congestive heart failure, Hypercalciuria, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypo...	ORPHA:428
Mitochondrial Complex I Deficiency, Nuclear Type 39	Small for gestational age, Hypospadias, Lactic acidosis, Hypertrophic cardiomyopathy, Oligohydram...	OMIM:620135
Nephrotic Syndrome, Type 16	Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis	OMIM:617783
Alpha-Methylacetoacetic Aciduria	Episodic ketoacidosis, Dehydration	OMIM:203750
Shigellosis	Hyponatremia, Failure to thrive in infancy, Pneumonia, Hemolytic-uremic syndrome, Myocarditis, Pe...	ORPHA:810
Parathyroid Carcinoma	Renal insufficiency, Polydipsia, Renal hamartoma, Hypercalcemia, Shortened QT interval, Primary h...	ORPHA:143
Pearson Marrow-Pancreas Syndrome	Small for gestational age, Hypercalciuria, Hydrops fetalis, Dehydration, Lactic acidosis, Metabol...	OMIM:557000
Congenital Myopathy 19	Renal atrophy, Hydronephrosis	OMIM:618578
Whipple Disease	Gastrointestinal hemorrhage, Hyponatremia, Pericarditis, Myositis, Myocardial infarction, Anorexi...	ORPHA:3452
Long Qt Syndrome 8	Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int...	OMIM:618447
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Vesicoureteral reflux, Nonimmune hydrops fetalis, Hydronephrosis, Decreased body weight	OMIM:618265
Reticular Dysgenesis	Skin rash, Dehydration, Weight loss, Chronic otitis media, Failure to thrive, Aplasia/Hypoplasia ...	ORPHA:33355
Pheochromocytoma/Paraganglioma Syndrome 3	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:605373
Xanthinuria, Type Ii	Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin...	OMIM:603592
Mitochondrial Complex I Deficiency, Nuclear Type 15	Increased serum lactate, Metabolic acidosis, Neonatal death, Hypertrophic cardiomyopathy, Failure...	OMIM:618237
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ed...	ORPHA:103910
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Increased serum pyruvate, Small for gestational age, Increased serum lactate, Hyperammonemia, Met...	OMIM:615160
6P22 Microdeletion Syndrome	Hydronephrosis	ORPHA:251046
Scrub Typhus	Myocarditis, Renal insufficiency, Hypotension	ORPHA:83317
Neuroendocrine Tumor Of The Colon	Tricuspid regurgitation, Right ventricular failure, Melena, Palpitations, Hypotension, Facial tel...	ORPHA:100080
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect...	ORPHA:2041
Osteootohepatoenteric Syndrome	Proteinuria, Grade II vesicoureteral reflux, Dehydration, Weight loss, Hypokalemia, Increased ser...	OMIM:619377
Hsd10 Disease, Infantile Type	Increased serum lactate, Hyperammonemia, Lactic acidosis, Metabolic acidosis, Hypertrophic cardio...	ORPHA:391428
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Wolfram Syndrome	Gastrointestinal hemorrhage, Recurrent urinary tract infections, Diabetes mellitus, Dysuria, Card...	ORPHA:3463
Cutaneous Mastocytoma	Telangiectasia of the skin, Hypotension, Telangiectasia macularis eruptiva perstans	ORPHA:79455
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Dilated cardiomyopathy, Ventricular tachycardia, Elevated circulating creatine kinase concentrati...	OMIM:600649
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Increased serum lactate, Lactic acidosis, Metabolic acidosis, Low-output congestive heart failure...	ORPHA:91130
Chronic Hiccup	Dehydration, Weight loss	ORPHA:396
Cardiomyopathy, Familial Hypertrophic, 25	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy	OMIM:607487
Galloway-Mowat Syndrome 9	Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:619603
Complement Factor I Deficiency	Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph...	OMIM:610984
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ...	OMIM:616201
Adult Acute Respiratory Distress Syndrome	Shock, Vasculitis, Hypotension	ORPHA:70578
Diffuse Alveolar Hemorrhage	Proteinuria, Elevated circulating creatinine concentration, Weight loss, Hematuria, Pulmonary ven...	ORPHA:90060
Inhalational Anthrax	Internal hemorrhage, Hypotension	ORPHA:247257
Long Qt Syndrome 14	Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT...	OMIM:616247
Meier-Gorlin Syndrome 8	Unilateral renal hypoplasia, Nephroptosis, Decreased body weight	OMIM:617564
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Abnormal enteric nervous sys...	ORPHA:85451
Hereditary Central Diabetes Insipidus	Polydipsia, Diabetes insipidus	ORPHA:30925
Erythrocytosis, Familial, 2	Hypotension, Pulmonary arterial hypertension, Cerebral hemorrhage	OMIM:263400
Congenital Myopathy 5 With Cardiomyopathy	Elevated circulating creatine kinase concentration, Sudden cardiac death, Congestive heart failur...	OMIM:611705
Endove Syndrome, Limb-Brain Type	Neurogenic bladder, Recurrent urinary tract infections, Osteomyelitis, Failure to thrive, Hydrone...	OMIM:619218
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the up...	ORPHA:99885
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, D...	ORPHA:93111
Odontochondrodysplasia 1	Polycystic kidney dysplasia, Nephronophthisis	OMIM:184260
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Edema, Abnormal blood ion concentration, Renal cyst, Dehydration, Gastrointes...	ORPHA:79404
Fragile X-Associated Tremor/Ataxia Syndrome	Ataxia, Dysmetria, Gait ataxia, Hypertension, Pollakisuria, Gait disturbance, Hypotension, Urinar...	ORPHA:93256
Acquired Von Willebrand Syndrome	Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Melena, Mi...	ORPHA:99147
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short...	OMIM:261740
Williams-Beuren Region Duplication Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Unilateral rena...	OMIM:609757
Mixed-Type Autoimmune Hemolytic Anemia	Abnormal urinary color, Tachycardia, Increased total bilirubin	ORPHA:90036
Renal Tubular Acidosis Iii	Nephrocalcinosis, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis	OMIM:267200
Porphyria, Acute Intermittent	Tachycardia, Dysuria, Urinary incontinence, Hypertension, Urinary retention, Elevated urinary del...	OMIM:176000
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Elevated circulating creatine kinase c...	ORPHA:90068
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia, Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Episodic metabol...	OMIM:210200
Isolated Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Metabolic acidosis, Elevated circulating creatine kinase concentration	ORPHA:408
Combined Oxidative Phosphorylation Deficiency 33	Elevated circulating creatine kinase concentration, Cardiac arrest, Increased serum lactate, Lact...	OMIM:617713
Familial Dysautonomia	Hyponatremia, Glomerulopathy, Orthostatic hypotension, Tachycardia, Ataxia, Renal insufficiency, ...	ORPHA:1764
Serotonin Syndrome	Hypertension, Tachycardia, Acute kidney injury, Hypotension	ORPHA:43116
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Methylmalonic acidemia, Elevated urinary 3-hydroxybutyric acid, Increased serum lactate, Methylma...	OMIM:614105
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Small for gestational age, Elevated circulating creatine kinase concentration, Increased serum la...	OMIM:619055
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Small for gestational age, Conjugated hyperbilirubinemia, Hyperammo...	OMIM:617093
Insulin-Resistance Syndrome Type B	Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Hypoalbuminemia, Hypotriglycerid...	ORPHA:2298
Webb-Dattani Syndrome	Neurogenic bladder, Decreased response to growth hormone stimulation test, Anterior pituitary hyp...	OMIM:615926
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Aminoaciduria, Acidosis	OMIM:204730
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre...	OMIM:620247
Holocarboxylase Synthetase Deficiency	Skin rash, Hyperammonemia, Lactic acidosis, Metabolic acidosis, Organic aciduria, Elevated urinar...	OMIM:253270
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities	Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency	OMIM:249660
Glutathione Synthetase Deficiency	Increased level of L-pyroglutamic acid in urine, Chronic metabolic acidosis	OMIM:266130
Joubert Syndrome 6	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:610688
Ventricular Fibrillation, Paroxysmal Familial, 2	Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction	OMIM:612956
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Hypospadias, Small for gestational age, Increased serum lactate, Hyperammonemia, Lactic acidosis,...	OMIM:614052
Brugada Syndrome 2	Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr...	OMIM:611777
Glutaric Acidemia Type 3	Ketonuria, Ketoacidosis, Glutaric aciduria, Abnormality of circulating enzyme level, Elevated cir...	ORPHA:35706
Acquired Methemoglobinemia	Tachycardia, Syncope, Palpitations, Arrhythmia	ORPHA:464453
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Prolonged QT interval, Dicarboxylic aciduria, I...	ORPHA:71212
Paroxysmal Nocturnal Hemoglobinuria	Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Myocardial infarction, P...	ORPHA:447
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas...	OMIM:620138
Atresia Of Urethra	Renal dysplasia, Pulmonary insufficiency, Renal insufficiency, Bladder fistula, Hydroureter, Recu...	ORPHA:105
Tubulointerstitial Nephritis And Uveitis Syndrome	Elevated circulating C-reactive protein concentration, Renal interstitial edema, Sterile pyuria, ...	ORPHA:91500
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Increased serum lactate, Lacticaciduria, Hyperglycinemia	OMIM:619063
D-Glyceric Aciduria	Increased circulating free fatty acid level, Hyperglycinuria, Nonketotic hyperglycinemia, Metabol...	ORPHA:941
Prune Belly Syndrome	Hydroureter, Xerostomia, Congenital posterior urethral valve, Hydronephrosis, Oligohydramnios	OMIM:100100
Al Amyloidosis	Gastrointestinal hemorrhage, Abnormal EKG, Renal insufficiency, Proteinuria, Abnormality of the k...	ORPHA:85443
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Elevated circulating creatinine concentration, Renal cyst, Right aortic arch...	OMIM:617478
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, 3-hydroxydicarb...	OMIM:619355
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Increased serum lactate, Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic acid...	OMIM:604273
Mitochondrial Complex I Deficiency, Nuclear Type 11	Wolff-Parkinson-White syndrome, Increased serum lactate, Congestive heart failure, Lactic acidosi...	OMIM:618234
Neuroendocrine Tumor Of The Rectum	Tricuspid regurgitation, Right ventricular failure, Hematochezia, Melena, Palpitations, Hypotensi...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Tricuspid regurgitation, Right ventricular failure, Hematochezia, Melena, Palpitations, Hypotensi...	ORPHA:100082
Cockayne Syndrome Type 1	Renal insufficiency, Proteinuria, Uveitis, Hypertension, Conjunctivitis, Increased blood urea nit...	ORPHA:90321
Alagille Syndrome 1	Duplicated collecting system, Hypertriglyceridemia, Multiple small medullary renal cysts, Renal h...	OMIM:118450
Rabson-Mendenhall Syndrome	Increased pineal volume, Precocious puberty, Insulin-resistant diabetes mellitus, Long penis, Fas...	ORPHA:769
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Small for gestational age, Nephrot...	OMIM:251300
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Small for gestational age, Increased serum lactate, Chronic lactic acid...	OMIM:312170
Granulomatosis With Polyangiitis	Sinusitis, Elevated circulating C-reactive protein concentration, Periorbital edema, Otitis media...	ORPHA:900
Episodic Pain Syndrome, Familial, 3	Abnormal autonomic nervous system physiology	OMIM:615552
3-Methylglutaconic Aciduria Type 9	Urinary incontinence, Increased serum lactate, 3-Methylglutaconic aciduria, Failure to thrive, Sl...	ORPHA:505216
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Dehydration, Uveitis, Lactic acidosis, Hypoal...	ORPHA:99826
Jervell And Lange-Nielsen Syndrome	Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation	ORPHA:90647
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Hemolytic-uremic syn...	OMIM:277400
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)	Increased urine alpha-ketoglutarate concentration, Lactic acidosis, Increased serum lactate	OMIM:614458
Familial Glucocorticoid Deficiency	Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Recurrent urinary tract...	ORPHA:361
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Increased serum lactate, Failure to thrive, Metabolic acidosis	OMIM:610090
Plasminogen Deficiency, Type I	Decreased level of plasminogen, Nephrolithiasis, Conjunctivitis, Periodontitis, Nephritis	OMIM:217090
Mitochondrial Complex I Deficiency, Nuclear Type 30	Metabolic acidosis, Congestive heart failure, Neonatal death	OMIM:301021
Combined Oxidative Phosphorylation Deficiency 36	Increased serum lactate, Hyperalaninemia, Failure to thrive, Aciduria	OMIM:617950
Post-Traumatic Pituitary Deficiency	Hypotension	ORPHA:95619
Porphyria Variegata	Hyponatremia, Tachycardia, Neurogenic bladder, Abnormal circulating porphyrin concentration, Chro...	ORPHA:79473
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Lymphadenitis, Abnormality of the parathyroid gland, Dehydratio...	ORPHA:2552
Tetraploidy	Hydronephrosis, Aplasia/Hypoplasia of the thymus, Renal hypoplasia/aplasia	ORPHA:3305
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab...	OMIM:600740
Maple Syrup Urine Disease	Increased level of hippuric acid in urine, Elevated circulating branched chain amino acid concent...	OMIM:248600
Encephalopathy, Ethylmalonic	Lactic acidosis, Elevated circulating butyrylcarnitine concentration, Failure to thrive, Ethylmal...	OMIM:602473
Renal Nutcracker Syndrome	Orthostatic hypotension, Tachycardia, Proteinuria, Hematuria, Syncope, Renal artery stenosis, Mic...	ORPHA:71273
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis...	OMIM:610205
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Hypertension, Renal hypoplasia, Absence of renal corticomedullary differentiation	OMIM:619758
Desmoid Tumor	Gastrointestinal hemorrhage, Hydronephrosis, Abnormality of the upper urinary tract	ORPHA:873
Brain Malformations With Or Without Urinary Tract Defects	Vesicoureteral reflux, Failure to thrive, Renal hypoplasia, Hydronephrosis	OMIM:613735
Sepsis In Premature Infants	Tachycardia, Small for gestational age, Elevated circulating C-reactive protein concentration, Ed...	ORPHA:90051
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia	ORPHA:276608
Polycythemia Vera	Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi...	OMIM:263300
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Hydronephrosis	OMIM:619797
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome	Metabolic acidosis, Hyperalaninemia	ORPHA:2597
Lujo Hemorrhagic Fever	Shock, Renal insufficiency, Maculopapular exanthema, Skin rash, Elevated circulating C-reactive p...	ORPHA:319213
Leprechaunism	Long penis, Hyperinsulinemia, Hypercalciuria, Central hypothyroidism, Nephrocalcinosis, Hypokalem...	ORPHA:508
Necrotizing Enterocolitis	Shock, Hyponatremia, Bradycardia, Hypotension	ORPHA:391673
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Tachycardia, Elevated circulating creatine kinase concentration, Increased...	ORPHA:26793
Danon Disease	Wolff-Parkinson-White syndrome, Elevated circulating creatine kinase concentration, Congestive he...	OMIM:300257
Hereditary Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Tachycardia, Elevated carcinoembryonic antigen level	ORPHA:264675
Progressive Familial Heart Block, Type Ii	Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin...	OMIM:140400
Enteric Anendocrinosis	Type I diabetes mellitus, Portal hypertension, Hyperchloremic metabolic acidosis, Dehydration	ORPHA:83620
Wolfram Syndrome 1	Neurogenic bladder, Diabetes mellitus, Diabetes insipidus, Hydroureter, Cardiomyopathy, Hypothyro...	OMIM:222300
Malignant Hyperthermia Of Anesthesia	Elevated creatine kinase after exercise, High-output congestive heart failure, Hyperkalemia, Vent...	ORPHA:423
Pseudo-Torch Syndrome 2	Bradycardia, Abnormal renal corticomedullary differentiation, Cerebral hemorrhage	OMIM:617397
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia, Ventricular arrhythmia	OMIM:141000
Ileal Neuroendocrine Tumor	Tricuspid stenosis, Edema, Right ventricular failure, Arterial occlusion, Weight loss, Small inte...	ORPHA:100078
Erdheim-Chester Disease	Renal insufficiency, Hypogonadotropic hypogonadism, Dysuria, Congestive heart failure, Polydipsia...	ORPHA:35687
Cerebrooculofacioskeletal Syndrome 1	Small for gestational age, Recurrent pneumonia, Dehydration, Metabolic acidosis, Failure to thrive	OMIM:214150
3-Methylglutaconic Aciduria, Type Viib	Polyhydramnios, Increased serum lactate, Congestive heart failure, Recurrent pneumonia, Dehydrati...	OMIM:616271
Combined Oxidative Phosphorylation Deficiency 28	Increased serum pyruvate, Polyhydramnios, Increased serum lactate, Congestive heart failure, Seve...	OMIM:616794
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Renal hypoplasia, Nephrocalcinosis, Hypertension, Hypokalemia, Aminoaci...	OMIM:617913
Short Qt Syndrome 2	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul...	OMIM:609621
Gracile Syndrome	Increased circulating ferritin concentration, Lactic acidosis, Renal Fanconi syndrome, Elevated h...	ORPHA:53693
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t...	ORPHA:652
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Methylmalonic acidemia, Small for gestational age, Elevated circulating creatine kinase concentra...	OMIM:612073
Short Qt Syndrome 7	Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation	OMIM:620231
Dihydrolipoamide Dehydrogenase Deficiency	Increased serum pyruvate, Ketoacidosis, Lactic acidosis, Metabolic acidosis, Hypertrophic cardiom...	OMIM:246900
Fanconi-Bickel Syndrome	Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Acidosis, Chronic acidosis, Hypercalciur...	OMIM:227810
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Unilateral renal agenesis, Increased nuchal translucency, Renal hypoplasia, Coarctation of aorta,...	OMIM:618494
Parkinsonism-Dystonia 2, Infantile-Onset	Elevated urinary homovanillic acid, Abnormal autonomic nervous system physiology, Hyperhidrosis	OMIM:618049
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated circulating creatine kinase concentration, Eczema, Congestive heart failure, Lymphadenit...	OMIM:615895
Pheochromocytoma/Paraganglioma Syndrome 1	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:168000
Microscopic Polyangiitis	Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Pericarditis, Sinusitis, Epista...	ORPHA:727
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Unilateral renal atrophy, Nephritis, Renal dysplasia, Pyelonephritis	OMIM:314300
Johanson-Blizzard Syndrome	Hypoplasia of penis, Diabetes mellitus, Hypospadias, Edema, Failure to thrive, Hypoproteinemia, H...	ORPHA:2315
Combined Oxidative Phosphorylation Deficiency 23	Increased serum lactate, Congestive heart failure, Dilated cardiomyopathy, Lactic acidosis, Arrhy...	OMIM:616198
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Failure to thrive, Stress/infection-induced lactic acidosis, Abnormal circulating carnitine conce...	ORPHA:431361
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Hypoammonemia, Dehydration, Oligosacchariduria, Nephrocalcinosis, Aminoacidu...	ORPHA:534
D-Glyceric Aciduria	Nonketotic hyperglycinemia, Metabolic acidosis, Aminoaciduria, Bradycardia, Micropenis, Failure t...	OMIM:220120
Distal Duplication 6P	Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia	ORPHA:1745
Bronchial Neuroendocrine Tumor	Tricuspid regurgitation, Right ventricular failure, Palpitations, Facial telangiectasia, Hypotens...	ORPHA:97287
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal...	OMIM:229600
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Duplicated collecting system, Hypospadias, Elevated circulating creatine kinase concentration, Po...	OMIM:301056
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Lactic acidosis, Aminoaciduria, Renal ...	ORPHA:436271
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tachycardia, Hypokalemia	OMIM:613239
Combined Oxidative Phosphorylation Deficiency 18	Increased serum lactate, Lactic acidosis, Methylmalonic aciduria, Oligohydramnios	OMIM:615578
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia, Increased urinary glycerol, Intermittent lactic acidemia, Lactic acidosis, Metabolic...	ORPHA:348
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Metabolic acidosis, Medium chain dicarboxylic aciduria, Hyperglycinuria, Cerebral edema	OMIM:201450
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Failure to thrive, Hyperglutamatemia, Increased serum lactate, Low plasma citrulline, Hyperammone...	OMIM:620358
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hyperphosphaturia, Proteinuria, Increased serum lactate, Renal tubular dysfunction, Lactic acidos...	OMIM:220110
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Reduced renal corticomedullary differentiation	OMIM:618541
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ...	OMIM:617641
Autoimmune Hemolytic Anemia, Warm Type	Congestive heart failure, Tachycardia, Abnormal urinary color	ORPHA:90033
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Renal insufficiency, Proteinuria, Respiratory acidosis, Nephrotic syndrome, Focal segmental glome...	OMIM:614748
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma...	OMIM:231680
Chromosome 5Q12 Deletion Syndrome	Hypotension	OMIM:615668
Congenital Disorder Of Glycosylation, Type Ih	Failure to thrive, Edema, Elevated circulating creatinine concentration, Hypoalbuminemia, Neonata...	OMIM:608104
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypospadias, Small for gestational age, Polyhydramnios, Hydrops fetalis, Pleural effusion, Hypert...	OMIM:616897
Cardiomyopathy, Familial Hypertrophic, 13	Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch...	OMIM:613243
Secondary Short Bowel Syndrome	Low plasma citrulline, Abnormal blood ion concentration, Dehydration, Central hypothyroidism, Wei...	ORPHA:95427
Erythrocytosis, Familial, 1	Cerebral hemorrhage, Myocardial infarction, Splenomegaly, Increased hemoglobin, Increased red blo...	OMIM:133100
Mitochondrial Complex I Deficiency, Nuclear Type 6	Increased serum lactate, Lactic acidosis, Metabolic acidosis, Severe lactic acidosis, Hypertrophi...	OMIM:618228
Multiple Myeloma	Hypercalcemia, Elevated circulating creatinine concentration, Abnormality of the bladder, Weight ...	ORPHA:29073
Septo-Optic Dysplasia Spectrum	Hypoplasia of penis, Anterior pituitary hypoplasia, Maternal diabetes, Polydipsia, Abnormality of...	ORPHA:3157
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, Acute kidney injury, Ataxia, Elevated circulating creatine kinase concentr...	ORPHA:466650
Atrial Septal Defect 6	Atrial fibrillation, Bradycardia	OMIM:613087
Glutaric Acidemia I	Ketonuria, Glutaric aciduria, Metabolic acidosis, Elevated circulating glutaric acid concentratio...	OMIM:231670
Autosomal Agammaglobulinemia	Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Dehydration, Hepa...	ORPHA:33110
Congenital Enterovirus Infection	Myocarditis, Hyperammonemia, Cardiomyopathy, Hypoalbuminemia, Hypotension	ORPHA:292
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope	OMIM:600919
Congenital Disorder Of Glycosylation, Type It	Decreased serum insulin-like growth factor 1, Tachycardia, Elevated circulating creatine kinase c...	OMIM:614921
Long Qt Syndrome 16	Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia	OMIM:618782
Pheochromocytoma/Paraganglioma Syndrome 4	Tachycardia, Elevated urinary catecholamine level, Renal cell carcinoma, Palpitations, Hypertensi...	OMIM:115310
Mitochondrial Myopathy, Infantile, Transient	Increased serum pyruvate, Elevated circulating creatine kinase concentration, Increased serum lac...	OMIM:500009
Isovaleric Acidemia	Metabolic acidosis	ORPHA:33
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Increased circulating dehydr...	OMIM:201810
Combined Oxidative Phosphorylation Deficiency 19	Lactic acidosis, Failure to thrive, Metabolic acidosis, Lacticaciduria	OMIM:615595
Joubert Syndrome 5	Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Nephr...	OMIM:610188
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Riboflavin Transporter Deficiency	Optic disc pallor, Facial palsy, Hypertension, Hypogonadism, Abnormal autonomic nervous system ph...	ORPHA:97229
Variant Abeta2M Amyloidosis	Reduced left ventricular ejection fraction, Chronic kidney disease, Renal amyloidosis, Abnormal a...	ORPHA:314652
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Increased serum lactate, Hyperprolinemia, Lactic acidosis, Metabolic ac...	OMIM:619046
Ritscher-Schinzel Syndrome 1	Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Pulmonic ...	OMIM:220210
Mitochondrial Complex I Deficiency, Nuclear Type 13	Failure to thrive, Cardiac arrest, Metabolic acidosis, Bradycardia, Hypertrophic cardiomyopathy, ...	OMIM:618235
Combined Oxidative Phosphorylation Deficiency 32	Lactic acidosis, Increased serum lactate, Horseshoe kidney	OMIM:617664
Polyglucosan Body Neuropathy, Adult Form	Orthostatic hypotension, Urinary incontinence, Gait disturbance, Neurogenic bladder	OMIM:263570
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Goodpasture Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Weight ...	OMIM:233450
Liver Failure, Infantile, Transient	3-hydroxydicarboxylic aciduria, Dicarboxylic aciduria, Increased serum lactate, Lacticaciduria, L...	OMIM:613070
Galloway-Mowat Syndrome 10	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Congenital hypothyroidi...	OMIM:619609
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Hyponatremia, Recurrent urinary tract infections, Renal insufficienc...	ORPHA:731
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr...	OMIM:601494
Diabetic Embryopathy	Ureteral duplication, Renal hypoplasia/aplasia, Abnormal aortic morphology, Micropenis, Abnormali...	ORPHA:1926
Familial Cold Urticaria	Polydipsia	ORPHA:47045
Brugada Syndrome 6	ST segment elevation, Ventricular fibrillation, Cardiac arrest	OMIM:613119
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyroto...	ORPHA:79102
Persistent Idiopathic Facial Pain	Abnormal autonomic nervous system physiology	ORPHA:398147
Naxos Disease	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:601214
Pyridoxal Phosphate-Responsive Seizures	Abnormal circulating glycine concentration, Abnormal circulating tyrosine concentration, Abnormal...	ORPHA:79096
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Arthritis, Hyperuricemia...	ORPHA:411536
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Increased serum lactate, Metabolic acidosis, Pancreatitis, Hyperammonemia	OMIM:620137
Neuropathy, Hereditary Sensory And Autonomic, Type Vii	Abnormal autonomic nervous system physiology, Hyperhidrosis	OMIM:615548
Staphylococcal Necrotizing Pneumonia	Shock, Elevated circulating C-reactive protein concentration, Hypotension	ORPHA:36238
Junctional Epidermolysis Bullosa With Pyloric Atresia	Urethral stricture, Recurrent skin infections, Polyhydramnios, Urinary bladder inflammation, Hydr...	ORPHA:79403
Kearns-Sayre Syndrome	Hypoparathyroidism, Diabetes mellitus, Primary adrenal insufficiency, Lactic acidosis, Renal tubu...	OMIM:530000
Bor Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu...	ORPHA:107
Timothy Syndrome	Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Hypocalcemia...	OMIM:601005
Fumarase Deficiency	Failure to thrive, Increased urine succinate level, Bilateral fetal pyelectasis, Necrotizing ente...	OMIM:606812
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Tachycardia, Proteinuria, Abnormal circulating fatty-acid concentration, Renal Fanconi syndrome, ...	ORPHA:263455
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Ketonuria, Elevated circulating creatine kinase concentration, Increased serum lactate, Lactic ac...	OMIM:251900
22Q11.2 Duplication Syndrome	Urethral stenosis, Aplasia/Hypoplasia of the thymus, Interrupted aortic arch, Displacement of the...	ORPHA:1727
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Polyhydramnios, Urethral atresia, Neonatal death, Hydronephrosis, Enlarged kidney	OMIM:314390
Scorpion Envenomation	Bundle branch block, Tachycardia, Increased circulating NT-proBNP concentration, Ataxia, Ketonuri...	ORPHA:466677
3-Methylglutaconic Aciduria, Type Ix	Urinary incontinence, Increased serum lactate, 3-Methylglutaric aciduria, 3-Methylglutaconic acid...	OMIM:617698
Recombinant Chromosome 8 Syndrome	Hydronephrosis, Pulmonic stenosis	OMIM:179613
Combined Oxidative Phosphorylation Deficiency 38	Wolff-Parkinson-White syndrome, Increased serum lactate, Lactic acidosis, Hyperalaninemia, Hypert...	OMIM:618378
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Lactic acidosis, Hypoalbuminemia, Hyperthreoninemia, Ket...	ORPHA:247598
Acute Intermittent Porphyria	Hyponatremia, Dark urine, Tachycardia, Renal insufficiency, Urinary incontinence, Dysuria, Porphy...	ORPHA:79276
Joubert Syndrome 37	Micropenis, Hydronephrosis, Obesity	OMIM:619185
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Tricuspid regurgitation, Increased serum lactate, Hyperammonemia, Lactic acidosis, Metabolic acid...	OMIM:619051
Gapo Syndrome	Tubulointerstitial fibrosis	OMIM:230740
Achalasia-Addisonianism-Alacrima Syndrome	Orthostatic hypotension, Decreased circulating cortisol level, Optic atrophy, Adrenocorticotropin...	OMIM:231550
Weyers Ulnar Ray/Oligodactyly Syndrome	Hydronephrosis	OMIM:602418
Complete Atrioventricular Septal Defect	Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con...	ORPHA:1329
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Hypertension, Increas...	OMIM:615954
Juvenile Neuronal Ceroid Lipofuscinosis	Loss of ambulation, Tachycardia	ORPHA:79264
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Hydronephrosis	OMIM:618060
Dysautonomia-Like Disorder	Abnormal autonomic nervous system physiology	OMIM:224000
Stiff-Person Syndrome	Hypertension, Tachycardia	OMIM:184850
Bardet-Biedl Syndrome 3	Tricuspid regurgitation, Renal hypoplasia	OMIM:600151
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:157
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
Ethylmalonic Encephalopathy	Lactic acidosis, Failure to thrive, Ethylmalonic aciduria	ORPHA:51188
Combined Oxidative Phosphorylation Deficiency 30	Elevated lactate:pyruvate ratio, Increased serum lactate, Lactic acidosis, Hyperalaninemia, Failu...	OMIM:616974
Myotonic Dystrophy 2	Tachycardia, Elevated circulating creatine kinase concentration, Premature ventricular contractio...	OMIM:602668
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho...	OMIM:108950
Hellp Syndrome	Proteinuria, Cerebral hemorrhage, Hemoglobinuria, Hypotension, Acute kidney injury, Internal hemo...	ORPHA:244242
Mitochondrial Complex Ii Deficiency, Nuclear Type 4	Increased serum pyruvate, Increased serum lactate, Increased urine alpha-ketoglutarate concentration	OMIM:619224
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Renal insufficiency, Dysuria, Sudden cardiac death, Abnormality of t...	ORPHA:537
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T...	ORPHA:470
Neuromuscular Oculoauditory Syndrome	Reduced renal corticomedullary differentiation, Multiple renal cysts, Elevated circulating creati...	OMIM:618733
Combined Oxidative Phosphorylation Deficiency 2	Small for gestational age, Edema, Increased serum lactate, Lactic acidosis, Neonatal death	OMIM:610498
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Lactic acidosis, Low plasma citrulline, Renal steatosis, Ketonuria	OMIM:261680
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Hypoplasia of penis, Abnormal autonomic nervous system physiology, Cardiac arrest, Arrhythmia	ORPHA:168593
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Duplicated collecting system, Diabetes mellitus, Decreased serum zinc, Esophagitis, Hydronephrosi...	ORPHA:541423
Yellow Fever	Shock, Renal insufficiency, Anuria, Acute pancreatitis, Elevated circulating creatine kinase conc...	ORPHA:99829
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hypotension	ORPHA:79456
Combined Oxidative Phosphorylation Deficiency 54	Tachycardia	OMIM:619737
Methanol Poisoning	Myocardial infarction, Cerebral hemorrhage, Hyperlipidemia, Permanent atrial fibrillation, Inflam...	ORPHA:31825
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop...	OMIM:617222
Sulfide:Quinone Oxidoreductase Deficiency	Lactic acidosis, Elevated circulating creatine kinase concentration	OMIM:619221
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Tricuspid regurgitation, Ketonuria, Dilated cardiomyopathy, Lacticaciduria, Lactic acidosis, Mitr...	OMIM:619167
Tetrasomy 15Q26	Hypoplastic aortic arch, Hydronephrosis, Horseshoe kidney	OMIM:614846
Neuroendocrine Tumor Of Stomach	Tricuspid regurgitation, Right ventricular failure, Hematemesis, Melena, Palpitations, Hypotensio...	ORPHA:100075
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydroureter, Polyhydramnios, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis	OMIM:619362
Combined Oxidative Phosphorylation Deficiency 31	Increased serum lactate, Lactic acidosis, Hyperalaninemia, Hypertrophic cardiomyopathy, Failure t...	OMIM:617228
Multiple System Atrophy	Raynaud phenomenon, Orthostatic syncope, Abnormal autonomic nervous system physiology, Autonomic ...	ORPHA:102
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig...	OMIM:610489
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Increased serum lactate, Congestive heart failure, Lactic acidosis, Metabolic acidosis, Hypertrop...	ORPHA:70472
Endove Syndrome, Limb-Only Type	Vesicoureteral reflux, Hydronephrosis	OMIM:619217
Al-Gazali Syndrome	Failure to thrive, Recurrent pneumonia, Hydronephrosis, Polyhydramnios	OMIM:609465
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia, Increased urinary glycerol	OMIM:229700
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Recurrent skin infections, Decreased serum creatinine, Failure to thrive, Hypohomocysteinemia, Hy...	OMIM:617744
Hsd10 Mitochondrial Disease	Lactic acidosis, Hypertrophic cardiomyopathy, Elevated circulating tiglylglycine concentration, M...	OMIM:300438
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Increased serum pyruvate, Hyperalaninemia, Lactic acidosis, Metabolic acidosis	OMIM:245349
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Hypertriglyceridemia, Small for gestational age, Polyuria, Pulmonary art...	OMIM:606721
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Hypospadias, Small for gestational age, Increased serum lactate, Hyperammonemia, Lactic acidosis,...	OMIM:615471
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Diabetes mellitus, Proteinuria, Cerebral artery atherosclerosis, Renal artery stenosis, Nephropat...	OMIM:209010
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Failure to thrive, Hydronephrosis	ORPHA:488613
Bardet-Biedl Syndrome 12	Hydroureter, Obesity, Cystic renal dysplasia, Hypogonadism, Hydronephrosis	OMIM:615989
Mirage Syndrome	Hyponatremia, Recurrent urinary tract infections, Hypospadias, Hypergonadotropic hypogonadism, Ad...	OMIM:617053
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Congestive heart failure, Abnormal left ventricular function, Hyp...	OMIM:540000
Myopathy With Lactic Acidosis, Hereditary	Elevated circulating creatine kinase concentration, Increased serum lactate, Lactic acidosis, Pal...	OMIM:255125
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad...	OMIM:612240
Myopathy, Myofibrillar, 1	Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa...	OMIM:601419
Primary Hyperoxaluria Type 3	Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri...	ORPHA:93600
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Renal dysplasia, Renal insufficiency, Diabetes mellitus, Psoriasiform dermati...	ORPHA:2237
Axial Mesodermal Dysplasia Spectrum	Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,...	ORPHA:1834
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia	OMIM:601887
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto...	ORPHA:137675
Aggressive Systemic Mastocytosis	Hypotension, Gastrointestinal hemorrhage, Portal hypertension	ORPHA:98850
Hsd10 Disease	Elevated urinary 3-hydroxybutyric acid, Abnormal urinary acylglycine profile, Chronic lactic acid...	ORPHA:391417
Feingold Syndrome Type 1	Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Tricuspid stenosis, Horseshoe ki...	ORPHA:391641
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill...	ORPHA:99103
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Elevated lactate:pyruvate ratio, Cholangitis, Increased serum lactate, Lacticac...	OMIM:124000
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Lactic acidosis, Failure to thrive, Abnormal circulating pyruvate family amino acid concentration...	ORPHA:255182
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Polyhydramnios, Thyroid lymphangiectasia, Lymphedema, Hypocalcemia, Micropenis, Ascites, Hypoprot...	OMIM:235255
Drug Reaction With Eosinophilia And Systemic Symptoms	Renal insufficiency, Skin rash, Cardiac arrest, Pustule, Myocarditis, Angioedema, Thyroiditis, He...	ORPHA:139402
Joubert Syndrome 2	Renal insufficiency, Renal cyst, Nephronophthisis	OMIM:608091
Cirrhotic Cardiomyopathy	Prolonged QT interval, Elevated jugular venous pressure, Increased circulating NT-proBNP concentr...	ORPHA:57777
Renal Tubular Acidosis, Proximal	Hyperchloremic acidosis, Renal tubular acidosis, Proximal renal tubular acidosis	OMIM:179830
Combined Oxidative Phosphorylation Deficiency 17	Lactic acidosis, Congestive heart failure, Hypertrophic cardiomyopathy, Failure to thrive	OMIM:615440
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ...	OMIM:613426
Suleiman-El-Hattab Syndrome	Failure to thrive, Hydronephrosis	OMIM:618950
Aromatic L-Amino Acid Decarboxylase Deficiency	Choreoathetosis, Athetosis, Hypotension	OMIM:608643
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Thoracic aortic aneurysm, Peritonitis, Megacystis, Pyelonephritis, Bidirectional shunt, E...	OMIM:619351
Multiple System Atrophy, Parkinsonian Type	Raynaud phenomenon, Orthostatic syncope, Abnormal autonomic nervous system physiology, Autonomic ...	ORPHA:98933
Hereditary Fructose Intolerance	Renal insufficiency, Chronic kidney disease, Hypermagnesemia, Metabolic acidosis, Hyperuricemia, ...	ORPHA:469
Scalp-Ear-Nipple Syndrome	Ureteral duplication, Recurrent urinary tract infections, Palpebral edema, Abnormality of the kid...	ORPHA:2036
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Prolonged QT interval, Abnormal EKG, Ketonuria, Elevated circulating creatine kinase concentratio...	ORPHA:480864
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Dilated cardiomyopathy, Ventricular tachycardia, Syncope	OMIM:615821
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Increased serum pyruvate, Renal insufficiency, Small for gestational age, Increased serum lactate...	OMIM:619147
Acute Radiation Syndrome	Hypotension, Telangiectasia	ORPHA:454831
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Chronic kidney disease, Renal hypoplasia, Unilateral renal agenesis	OMIM:617661
Noonan Syndrome 4	Ureteral duplication, Polyhydramnios, Large for gestational age, Pulmonic stenosis, Hypertrophic ...	OMIM:610733
Pde4D Haploinsufficiency Syndrome	Hypospadias, Hypotension	ORPHA:439822
Congenitally Uncorrected Transposition Of The Great Arteries	Tachycardia, Cardiac shunt, Congestive heart failure, Left ventricular outflow tract obstruction,...	ORPHA:860
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Ketonuria, Large for gestational age, Lactic acidosis, Aminoaciduria, Failure to thrive	OMIM:614520
Mitochondrial Myopathy With Lactic Acidosis	Increased serum pyruvate, Lactic acidosis, Elevated serum anion gap, Increased serum lactate	OMIM:251950
Combined Oxidative Phosphorylation Deficiency 20	Lactic acidosis, Hyperalaninemia, Hypertrophic cardiomyopathy, Small for gestational age	OMIM:615917
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Lactic acidosis, Increased serum lactate, Elevated circulating creatine kinase concentration, Hyp...	OMIM:618416
Combined Oxidative Phosphorylation Deficiency 1	Elevated lactate:pyruvate ratio, Increased serum lactate, Metabolic acidosis	OMIM:609060
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Hydronephrosis	OMIM:300048
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ...	ORPHA:2973
Hypomagnesemia 2, Renal	Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia	OMIM:154020
Mitochondrial Complex I Deficiency, Nuclear Type 20	Dicarboxylic aciduria, Congestive heart failure, Dilated cardiomyopathy, Lactic acidosis, Hypertr...	OMIM:611126
Congenital Short Bowel Syndrome	Metabolic acidosis, Failure to thrive, Dehydration	OMIM:615237
Pseudohypoaldosteronism, Type Iia	Hypertension, Pseudohypoaldosteronism, Hyperkalemia	OMIM:145260
Chondrodysplasia Punctata 2, X-Linked Dominant	Polyhydramnios, Edema, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Erythroderma, Fa...	OMIM:302960
Mitochondrial Complex I Deficiency, Nuclear Type 32	Hyponatremia, Small for gestational age, Increased serum lactate, Metabolic acidosis, Patent urac...	OMIM:618252
Toluene Embryopathy	Hydronephrosis, Abnormal localization of kidney	ORPHA:1920
Adult-onset autosomal dominant leukodystrophy (ADLD)	Abnormal autonomic nervous system physiology	DECIPHER:59
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Renal insufficiency, Proteinuria, Conjugated hyperbilirubinemia, Chronic kidney disease, Renal cy...	OMIM:208500
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Hypoplasia of penis, Hydronephrosis	ORPHA:2083
Autoimmune Hypoparathyroidism	Prolonged QT interval, Calcium nephrolithiasis, Abnormal left ventricular function, Hypocalcemic ...	ORPHA:36913
Atrial Fibrillation, Familial, 10	Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill...	OMIM:614022
Aneurysm Of Sinus Of Valsalva	Aortic regurgitation, Edema, Congestive heart failure, Oliguria, Heart murmur, Bacterial endocard...	ORPHA:1054
Mitochondrial Complex I Deficiency, Nuclear Type 37	Hypospadias, Increased serum lactate, Lactic acidosis, Bradycardia, Pulmonary arterial hypertensi...	OMIM:619272
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc...	OMIM:211900
Oxoglutarate Dehydrogenase Deficiency	Increased serum lactate, Metabolic acidosis, Congenital lactic acidosis	OMIM:203740
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydroureter, Portal hypertension, Megacystis, Hydronephrosis, Oligohydramnios	OMIM:619431
Congenital Fibrinogen Deficiency	Tachycardia, Internal hemorrhage, Micropenis	ORPHA:335
Mitochondrial Complex I Deficiency, Nuclear Type 4	Increased serum pyruvate, Increased serum lactate, Metabolic acidosis	OMIM:618225
Late-Onset Isolated Acth Deficiency	Hyponatremia, Orthostatic hypotension, Hypercalcemia, Hyperkalemia, Hyperuricemia, Hypotension	ORPHA:199299
Combined Oxidative Phosphorylation Deficiency 37	Increased serum lactate, Lactic acidosis, 3-Methylglutaconic aciduria, Hypoalbuminemia, Hyperalan...	OMIM:618329
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Dehydration	OMIM:251850
Indifference To Pain, Congenital, Autosomal Recessive	Anhidrosis, Urinary incontinence, Hypohidrosis, Abnormal autonomic nervous system physiology, Abn...	OMIM:243000
Trisomy 13	Abnormality of the ureter, Hydrops fetalis, Multiple renal cysts, Displacement of the urethral me...	ORPHA:3378
Distal Triplication 15Q	Abnormality of the kidney, Large for gestational age, Hypoplastic aortic arch, Dilatation of the ...	ORPHA:314588
Diffuse Cutaneous Systemic Sclerosis	Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Xerostomia, Oliguria, ...	ORPHA:220393
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Vasculitis, Nephrotic syndrome, Malar rash, Nephritis	OMIM:603909
Osteopetrosis With Renal Tubular Acidosis	Elevated circulating creatine kinase concentration, Proximal renal tubular acidosis, Nephrolithia...	ORPHA:2785
Hyperkalemic Periodic Paralysis	Hyponatremia, Elevated circulating creatine kinase concentration, Congestive heart failure, Hyper...	ORPHA:682
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal...	ORPHA:1475
Cranioectodermal Dysplasia 3	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:614099
Trisomy 1Q	Multicystic kidney dysplasia, Polyhydramnios, Increased nuchal translucency, Hydrops fetalis, Con...	ORPHA:261344
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con...	OMIM:617907
Eosinophilic Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Recurrent intrapulmonary hemorrhage, Proteinuria, Transient ...	ORPHA:183
Pseudohypoaldosteronism Type 2	Hypertension, Hyperkalemia	ORPHA:757
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Hypercalciuria, Generalized aminoaciduria, Renal phosphate wast...	OMIM:613388
Triokinase And Fmn Cyclase Deficiency Syndrome	Reduced systolic function, Failure to thrive in infancy, Dilated cardiomyopathy, Lactic acidosis,...	OMIM:618805
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Diabetes mellitus, Anuria, Acute colitis, Edema, Pneumonia, Myocarditis, Pancreatit...	ORPHA:544482
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Nonimmune hydrops fetalis, Ectopic kidney, Thyroid lymphangiectasia, Lymphedema, Periorbital edem...	OMIM:235510
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Neonatal death, Renal dysplasia, Oli...	OMIM:236500
Acute Monoblastic/Monocytic Leukemia	Periorbital edema, Weight loss, Oliguria, Central hypothyroidism	ORPHA:514
Tarp Syndrome	Subdural hemorrhage, Horseshoe kidney, Neonatal death, Failure to thrive, Hydronephrosis, Oligohy...	OMIM:311900
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Elevated hemoglobin A1c, Increased serum lactate, Renal tubular dysfunction, Lactic acidosis, Gly...	OMIM:616539
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con...	OMIM:611783
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Elevated lactate:pyruvate ratio, Lactic acidosis, Increased serum lactate, Severe lactic acidosis	OMIM:616111
Poliomyelitis	Inability to walk, Hypertension, Hypovolemic shock, Hypotension	ORPHA:2912
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Diabetes mellitus, Proteinuria, Predominantly...	ORPHA:33001
Mitchell Syndrome	Abnormal autonomic nervous system physiology	OMIM:618960
Ebstein Anomaly	Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu...	OMIM:224700
Kury-Isidor Syndrome	Recurrent otitis media, Hydronephrosis	OMIM:619762
Ventriculomegaly With Cystic Kidney Disease	Tubular luminal dilatation, Renal insufficiency, Renal corticomedullary cysts, Hyperechogenic kid...	OMIM:219730
Mitochondrial Complex I Deficiency, Nuclear Type 34	Metabolic acidosis, Lactic acidosis	OMIM:618776
Even-Plus Syndrome	Recurrent urinary tract infections, Atopic dermatitis, Renal hypoplasia, Vesicoureteral reflux, O...	OMIM:616854
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome	Lactic acidosis, Decreased circulating ferritin concentration	ORPHA:330054
Mitochondrial Complex I Deficiency, Nuclear Type 5	Lactic acidosis, Failure to thrive, Metabolic acidosis, Increased serum lactate	OMIM:618226
High Altitude Pulmonary Edema	Tachycardia	ORPHA:330012
Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Increased urinary glycerol, Hypertriglyceridemia, Small for gestationa...	OMIM:307030
Kleefstra Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Chronic otitis media, Pulmonary artery ste...	ORPHA:261494
Microcephaly 26, Primary, Autosomal Dominant	Failure to thrive, Hydronephrosis, Recurrent pneumonia	OMIM:619179
Tempi Syndrome	Abnormality of the kidney, Telangiectasia, Intracranial hemorrhage, Increased hematocrit, Polycyt...	ORPHA:284227
Malignant Hyperthermia, Susceptibility To, 4	Acidosis	OMIM:600467
Brugada Syndrome 5	ST segment elevation, Bundle branch block, Ventricular fibrillation	OMIM:612838
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
9Q21.13 Microdeletion Syndrome	Hydronephrosis	ORPHA:531151
Myxopapillary Ependymoma	Autonomic bladder dysfunction	ORPHA:251643
Microphthalmia, Syndromic 9	Renal malrotation, Renal hypoplasia, Horseshoe kidney, Coarctation of aorta, Neonatal death, Pulm...	OMIM:601186
X-Linked Intellectual Disability Due To Gria3 Mutations	Micropenis, Slender build, Hydronephrosis	ORPHA:364028
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Tachycardia, Tricuspid regurgitation, Proteinuria, Heparan sulfate excretion in urine, Congestive...	ORPHA:505248
Multiple System Atrophy, Cerebellar Type	Raynaud phenomenon, Orthostatic syncope, Abnormal autonomic nervous system physiology, Autonomic ...	ORPHA:227510
Tularemia	Tachycardia	ORPHA:3392
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Ketonuria, Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adeno...	ORPHA:79644
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Failure to thrive, Elevated circulating alpha-fetoprotein concentration, Portal hypertension, Gen...	OMIM:251880
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased body weight, ...	ORPHA:264580
Mitochondrial Complex I Deficiency, Nuclear Type 3	Metabolic acidosis	OMIM:618224
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Hyperpepsinogenemia I, Cardiomyopathy, B...	OMIM:615745
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617182
Trisomy 17P	Hypoplasia of penis, Urethral valve, Urethral stenosis, Polycystic kidney dysplasia, Aortic valve...	ORPHA:261290
Zygomycosis	Fasciitis, Sinusitis, Periorbital edema, Acute infectious pneumonia, Colitis, Nephritis, Infectio...	ORPHA:73263
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Cerebral vasculitis, Leukocytosis, Abnormal autonomic nervous system physiology, Hypothyroidism, ...	ORPHA:83601
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Congenital Disorder Of Glycosylation, Type Iit	Decreased HDL cholesterol concentration, Urinary incontinence, Pineal cyst, Decreased serum creat...	OMIM:618885
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration, Ataxia	OMIM:612736
Combined Oxidative Phosphorylation Deficiency 48	Increased serum lactate, Lactic acidosis, Failure to thrive	OMIM:619012
Glucocorticoid Resistance, Generalized	Increased circulating ACTH level, Hypertension, Increased circulating cortisol level, Increased s...	OMIM:615962
Mitochondrial Complex I Deficiency, Nuclear Type 7	Lactic acidosis, Hypertrophic cardiomyopathy, Failure to thrive	OMIM:618229
Thiamine-Responsive Megaloblastic Anemia Syndrome	Paroxysmal atrial tachycardia, Congestive heart failure, Cardiac arrest	ORPHA:49827
Beta-Ureidopropionase Deficiency	Increased serum lactate, Elevated circulating N-carbamyl-beta-alanine concentration, Bladder exst...	OMIM:613161
Split-Hand/Foot Malformation 3	Renal hypoplasia	OMIM:246560
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Polyhydramnios, Abnormal renal morphology, Hypocalcemia, Micropenis, Ascites, Hypoproteinemia, Hy...	ORPHA:1655
Erythermalgia, Primary	Abnormal autonomic nervous system physiology, Xerostomia, Palpitations, Hyperhidrosis	OMIM:133020
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Precocious puberty, Obesity, Periodontitis, Type I diabetes mellitus, Moderate albuminuria, Hydro...	OMIM:619269
Hyperuricemia, Hprt-Related	Renal insufficiency, Nephrolithiasis, Hyperuricosuria, Hyperuricemia, Podagra	OMIM:300323
Microcephaly 29, Primary, Autosomal Recessive	Reduced renal corticomedullary differentiation, Hyperechogenic kidneys	OMIM:620047
Leigh Syndrome	Eczema, Increased serum lactate, Ketoacidosis, Congestive heart failure, Lacticaciduria, Methylma...	ORPHA:506
Hyperchlorhidrosis, Isolated	Hyponatremia, Hyperkalemia	OMIM:143860
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Pituitary null cell adenoma, Pancreatic islet cell adenoma, Neoplasm of ...	ORPHA:97289
Hennekam-Beemer Syndrome	Arrhythmia, Telangiectasia of the skin, Hypotension	ORPHA:2135
Mitochondrial Complex I Deficiency, Nuclear Type 22	Elevated lactate:pyruvate ratio, Lactic acidosis, Hypertrophic cardiomyopathy	OMIM:618243
Epilepsy, Familial Focal, With Variable Foci 4	Abnormal autonomic nervous system physiology	OMIM:617935
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Nephrocalcinosis, Lactic acidosis, Aminoaciduria, Cardiomyopathy	OMIM:616084
Vacterl/Vater Association	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Polyhydramnios, E...	ORPHA:887
Orofaciodigital Syndrome Xvii	Micropenis, Renal hypoplasia, Decreased body weight	OMIM:617926
Isolated Complex I Deficiency	Increased serum pyruvate, Diabetes mellitus, Lactic acidosis, Proximal tubulopathy, Hypertrophic ...	ORPHA:2609
Congenital Disorder Of Glycosylation, Type Iie	Neurogenic bladder, Elevated circulating creatine kinase concentration, Congestive heart failure,...	OMIM:608779
Zellweger Syndrome	Multicystic kidney dysplasia, Hypospadias, Primary adrenal insufficiency, Failure to thrive, Hydr...	ORPHA:912
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Edema, Polyhydramnios, Conjugated hyperbilirubinemia, Hypoalbumine...	OMIM:619534
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula...	ORPHA:99827
Alexander Disease	Ataxia, Sudden cardiac death, Hypertension, Gait disturbance, Hypotension	ORPHA:58
Combined Oxidative Phosphorylation Deficiency 4	Increased serum lactate, Lactic acidosis, Metabolic acidosis, Hyperammonemia	OMIM:610678
Congenital Myopathy 17	Failure to thrive in infancy, Polyhydramnios, Renal hypoplasia, Ureteropelvic junction obstructio...	OMIM:618975
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Increased ser...	OMIM:619743
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of penis, Renal hypoplasia, Polyhydramnios	ORPHA:2256
Pyruvate Dehydrogenase E1-Beta Deficiency	Lactic acidosis, Hyperammonemia	OMIM:614111
Mesomelia-Synostoses Syndrome	Hydronephrosis	ORPHA:2496
Acute Interstitial Pneumonia	Hypertension, Elevated circulating creatinine concentration, Elevated circulating C-reactive prot...	ORPHA:79126
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl...	ORPHA:60041
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Colitis, Hypoalbuminemi...	ORPHA:37042
Pallister-Hall Syndrome	Thyroid dysgenesis, Renal dysplasia, Decreased circulating cortisol level, Hydroureter, Decreased...	OMIM:146510
Lassa Fever	Facial edema, Conjunctivitis, Oliguria, Shock	ORPHA:99824
Duplication Of Urethra	Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence...	ORPHA:237
Parkinson Disease 4, Autosomal Dominant	Orthostatic hypotension, Abnormal autonomic nervous system physiology	OMIM:605543
Pituitary Apoplexy	Hyponatremia, Hypertension, Hypotension	ORPHA:95613
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology	ORPHA:139578
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Lactic acidosis, Hypertrophic cardiomyopathy, Failure to thrive, Increased serum lactate	OMIM:613561
Degcags Syndrome	Recurrent urinary tract infections, Tachycardia, Hypospadias, Bilateral renal dysplasia, Abnormal...	OMIM:619488
Autosomal Dominant Epilepsy With Auditory Features	Abnormal autonomic nervous system physiology	ORPHA:101046
Leptospirosis	Pericarditis, First degree atrioventricular block, Cellular urinary casts, Retinal hemorrhage, Su...	ORPHA:509
Hardikar Syndrome	Hypoplasia of the bladder, Decreased serum insulin-like growth factor 1, Renal insufficiency, Rec...	OMIM:301068
Systemic Mastocytosis With Associated Hematologic Neoplasm	Tachycardia, Syncope, Hypotension	ORPHA:98849
Carney Triad	Gastrointestinal hemorrhage, Hypertension, Tachycardia, Arrhythmia	ORPHA:139411
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Increased serum lactate, Metabolic acidosis	OMIM:617290
Tuberous Sclerosis 2	Wolff-Parkinson-White syndrome, Absence of renal corticomedullary differentiation, Precocious pub...	OMIM:613254
Renal And Mullerian Duct Hypoplasia	Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney	OMIM:266810
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo...	ORPHA:75565
Barth Syndrome	Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur...	OMIM:302060
Zttk Syndrome	Aortic regurgitation, Polyuria, Unilateral renal agenesis, Horseshoe kidney, Failure to thrive	OMIM:617140
Beta-Propeller Protein-Associated Neurodegeneration	Optic atrophy, Abnormal autonomic nervous system physiology	ORPHA:329284
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame...	OMIM:610475
Spinocerebellar Ataxia, Autosomal Recessive 8	Optic atrophy, Abnormal autonomic nervous system physiology	OMIM:610743
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Tachycardia, Atrial fibrillation, Hypertriglyceridemia, Elevated circulati...	OMIM:613327
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Decreased response to growth hormone stimulation test, Central diabetes insipidus, ...	ORPHA:293987
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia, Adrenal hypoplasia, Adrenal insufficiency	OMIM:240200
Mitochondrial Complex I Deficiency, Nuclear Type 25	Lactic acidosis, Failure to thrive	OMIM:618246
Pituitary Adenoma 4, Acth-Secreting	Pituitary adenoma, Nephrolithiasis, Increased circulating ACTH level, Hypertension, Hypokalemia	OMIM:219090
2P15P16.1 Microdeletion Syndrome	Aortic regurgitation, Multicystic kidney dysplasia, Polyhydramnios, Mitral regurgitation, Hypogon...	ORPHA:261349
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Tricuspid regurgitation, Metabolic acidosis, Lactic acidosis, Reduced left ...	OMIM:616501
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Waddling gait, Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kin...	ORPHA:98855
Zaki Syndrome	Renal agenesis, Hydronephrosis	OMIM:619648
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Atrial fibrillation, Bradycardia	OMIM:614302
Ogden Syndrome	Global glomerulosclerosis, Peripheral pulmonary artery stenosis, Pulmonary edema, Eczema, Materna...	OMIM:300855
3C Syndrome	Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Pulmonic stenosis, Aortic valve stenosis, H...	ORPHA:7
Carey-Fineman-Ziter Syndrome	Skeletal muscle atrophy, Facial palsy, Aplasia of the pectoralis major muscle, Glandular hypospad...	ORPHA:1358
16P12.1P12.3 Triplication Syndrome	Tachycardia	ORPHA:485405
Amish Lethal Microcephaly	Metabolic acidosis, Organic aciduria	ORPHA:99742
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Increased serum pyruvate, Hyperalaninemia, Lactic acidosis, Increased serum lactate	OMIM:617668
Paganini-Miozzo Syndrome	Elevated lactate:pyruvate ratio, Hyperalaninemia, Increased serum lactate, Urinary incontinence	OMIM:301025
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Ureteral duplication, Ureteral hypoplasia, Polyhydramnios, Bladder trabeculation, Large for gesta...	OMIM:614080
Peroxisome Biogenesis Disorder 1A (Zellweger)	Hypospadias, Adrenal hypoplasia, Aminoaciduria, Albuminuria, Elevated circulating long chain fatt...	OMIM:214100
Pituitary Dermoid And Epidermoid Cysts	Enlarged pituitary gland, Polydipsia, Neoplasm of the anterior pituitary, Hypogonadism, Hyperpitu...	ORPHA:91351
Mitochondrial Complex I Deficiency, Nuclear Type 16	Lactic acidosis, Failure to thrive, Adrenal insufficiency	OMIM:618238
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Urethral obstruction, Renal dysplasia, Renal hypoplasia, Hypertrophy of the urinary bladder	OMIM:601389
Double Outlet Right Ventricle	Tachycardia, Heart murmur, Hypocalcemia, Pulmonic stenosis	ORPHA:3426
Micro Syndrome	Hypoplasia of penis, Hydronephrosis, Abnormal localization of kidney, Delayed puberty	ORPHA:2510
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic regurgitation, Failure to thrive, Hypospadias, Small for gestational age, Unilateral renal...	ORPHA:464311
Czeizel-Losonci Syndrome	Ureteral agenesis, Abnormality of the urinary system, Congenital megaureter, Hydronephrosis	ORPHA:2437
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Stage 5 chronic kidney disease, Renal cyst, Hypertension, Nephronophthisis,...	OMIM:266920
Combined Oxidative Phosphorylation Deficiency 14	Lactic acidosis, Aminoaciduria, Increased serum lactate, Elevated hepatic iron concentration	OMIM:614946
Congenital Disorder Of Glycosylation, Type Iig	Renal insufficiency, Hypospadias, Failure to thrive in infancy, Hemolytic-uremic syndrome, Hydron...	OMIM:611209
3-Methylglutaconic Aciduria Type 7	Renal insufficiency, Increased serum lactate, Renal cyst, Nephrocalcinosis, Cardiomyopathy, 3-Met...	ORPHA:445038
Eisenmenger Syndrome	Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Supraventricular ...	ORPHA:97214
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Cardiomyopathy, Episodic metabolic acidosis, Failure to thrive, Ethylmalonic aciduria	OMIM:201470
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased body weight, ...	ORPHA:79240
Koolen-De Vries Syndrome	Ureteral duplication, Hypospadias, Vesicoureteral reflux, Hypothyroidism, Hydronephrosis, Renal d...	ORPHA:96169
Visceral Myopathy 1	Polyhydramnios, Pancreatitis, Megacystis, Urinary retention, Vesicoureteral reflux, Hydronephrosis	OMIM:155310
Penile Agenesis	Urethral atresia, male, Hydroureter, Maternal diabetes, Fetal pyelectasis, Bilateral renal hypopl...	ORPHA:49
Bresek Syndrome	Hypoplasia of the bladder, Renal hypoplasia, Neonatal death, Vesicoureteral reflux, Renal dysplasia	ORPHA:85284
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac...	ORPHA:216694
Intellectual Disability, Buenos-Aires Type	Hydronephrosis	ORPHA:3079
Vipoma	Diabetes mellitus, Hypercalcemia, Follicular thyroid carcinoma, Elevated circulating growth hormo...	ORPHA:97282
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Abnormality of the kidney, Thickened glomerular basement membra...	ORPHA:2614
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Increased serum lactate, Lactic acidosis, Pulmonary arterial hypertension, Hyperglycinemia, Hyper...	OMIM:619059
Melnick-Needles Syndrome	Vesicoureteral reflux, Hydronephrosis	ORPHA:2484
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia	ORPHA:542306
Arterial Calcification, Generalized, Of Infancy, 1	Myocardial infarction, Coronary artery calcification, Congestive heart failure, Carotid artery ca...	OMIM:208000
Nelson Syndrome	Increased urinary cortisol level, Pituitary corticotropic cell adenoma, Adrenocorticotropic hormo...	ORPHA:199244
Mitochondrial Complex I Deficiency, Nuclear Type 14	Increased serum lactate, Lactic acidosis, Hypertrophic cardiomyopathy	OMIM:618236
Secondary Intestinal Lymphangiectasia	Right ventricular failure, Intestinal bleeding, Hypocholesterolemia, Constrictive pericarditis, L...	ORPHA:90363
Harlequin Ichthyosis	Sudden cardiac death, Dehydration, Erythroderma	ORPHA:457
Multiple System Atrophy 1, Susceptibility To	Anhidrosis, Orthostatic hypotension, Urinary incontinence, Hypohidrosis, Urinary urgency, Abnorma...	OMIM:146500
Fryns Syndrome	Multicystic kidney dysplasia, Hypospadias, Polyhydramnios, Abnormal aortic arch morphology, Abnor...	ORPHA:2059
Combined Oxidative Phosphorylation Deficiency 42	Decreased circulating cortisol level, Nonimmune hydrops fetalis, Elevated circulating creatine ki...	OMIM:618839
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Hypertension	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Hypertension	OMIM:614495
Emery-Dreifuss Muscular Dystrophy	Waddling gait, Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kin...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Waddling gait, Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kin...	ORPHA:98853
Combined Oxidative Phosphorylation Deficiency 40	Decreased circulating cortisol level, Nonimmune hydrops fetalis, Elevated circulating creatine ki...	OMIM:618835
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Pericardial effusion, Increased serum lactate, Elevated urine acetoacetic acid level, Cardiomyopa...	OMIM:620089
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Polyhydramnios, Increased serum lactate, Micropenis, Hypocholesterolemia, Neonatal death, Hypertr...	OMIM:618810
Mungan Syndrome	Vesicoureteral reflux, Tricuspid regurgitation, Renal hypoplasia, Pulmonic stenosis	OMIM:611376
Acth-Independent Macronodular Adrenal Hyperplasia	Adrenal hyperplasia, Decreased circulating ACTH concentration, Hypertension, Increased circulatin...	OMIM:219080
Pigmented Nodular Adrenocortical Disease, Primary, 4	Diabetes mellitus, Adrenal hyperplasia, Hypertension, Increased circulating cortisol level, Prima...	OMIM:615830
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Hypoplasia of the bladder, Hydroureter, Small for gestational age, Valvular pulmonary stenosis, V...	OMIM:300707
Fatal Familial Insomnia	Urinary retention, Abnormal autonomic nervous system physiology, Hyperhidrosis	OMIM:600072
Hypouricemia, Renal, 2	Hypouricemia, Nephrolithiasis	OMIM:612076
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Hydronephrosis	OMIM:620327
Coenzyme Q10 Deficiency, Primary, 5	Lactic acidosis, Hyperalaninemia, Increased serum lactate, Bradycardia	OMIM:614654
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Lactic acidosis, Failure to thrive in infancy	OMIM:619065
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Tricuspid regurgitation, Renal hypoplasia, Renal cyst, Vesicoureteral reflu...	OMIM:618460
Hyperthyroidism, Nonautoimmune	Tachycardia, Increased circulating thyroglobulin level	OMIM:609152
Mandibuloacral Dysplasia Progeroid Syndrome	Tricuspid regurgitation, Hypertriglyceridemia, Proteinuria, Elevated hemoglobin A1c, Focal segmen...	OMIM:619127
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Methylmalonic acidemia, Hypospadias, Increased serum lactate, Methylmalonic aciduria, Coarctation...	ORPHA:17
Melkersson-Rosenthal Syndrome	Abnormal autonomic nervous system physiology, Facial palsy, Oligosacchariduria	ORPHA:2483
Coenzyme Q10 Deficiency, Primary, 4	Elevated lactate:pyruvate ratio, Lactic acidosis, Increased serum lactate	OMIM:612016
Pseudohypoaldosteronism, Type Iie	Hyperkalemia, Metabolic acidosis, Hypertension, Pseudohypoaldosteronism, Hyperchloremia, Hyperchl...	OMIM:614496
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Dilated cardiomyopathy, Ataxia, Gait ataxia	OMIM:618321
Basel-Vanagaite-Smirin-Yosef Syndrome	Pulmonary arterial hypertension, Recurrent pneumonia, Hypospadias, Hydronephrosis	OMIM:616449
Interstitial Lung And Liver Disease	Intraalveolar phospholipid accumulation, Hyperammonemia, Lactic acidosis, Aminoaciduria, Failure ...	OMIM:615486
Lead Poisoning	Decreased HDL cholesterol concentration, Small for gestational age, Skin rash, Chronic kidney dis...	ORPHA:330015
Chromosome 2P16.1-P15 Deletion Syndrome	Micropenis, Hypogonadism, Hydronephrosis	OMIM:612513
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis	ORPHA:1297
Hand-Foot-Genital Syndrome	Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Chordee, Vesicoureteral reflux, Ure...	OMIM:140000
Cystinuria	Hematuria, Nephrolithiasis, Renal insufficiency, Hyperuricemia	ORPHA:214
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Obesity, Heart murmur, Vesicoureteral reflux, Micropenis, Pelvic kidney, Hydronephrosis, Oligohyd...	OMIM:618653
Liver Disease, Severe Congenital	Chronic gastritis, Abnormal left ventricular function, Aminoaciduria, Hypocalcemia, Elevated hepa...	OMIM:619991
Carpenter Syndrome 1	Hydroureter, Precocious puberty, Obesity, Pulmonic stenosis, Hydronephrosis	OMIM:201000
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia	OMIM:609153
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Autonomic bladder dysfunction, Decreased sweating due to autonomic dysfunction, Autonomic erectil...	OMIM:169500
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia	OMIM:614653
X-Linked Emery-Dreifuss Muscular Dystrophy	Waddling gait, Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kin...	ORPHA:98863
Neuroendocrine Neoplasm Of Appendix	Palpitations, Heart murmur, Tricuspid stenosis, Hypotension	ORPHA:100079
Hereditary Angioedema Type 1	Hypotension	ORPHA:100050
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven...	OMIM:300952
Baller-Gerold Syndrome	Failure to thrive in infancy, Abnormality of the ureter, Abnormal localization of kidney, Vesicou...	ORPHA:1225
Koolen-De Vries Syndrome	Recurrent urinary tract infections, Small for gestational age, Eczema, Aortic root aneurysm, Pulm...	OMIM:610443
Mosaic Trisomy 9	Renal dysplasia, Hypoplasia of penis, Polyhydramnios, Hydrops fetalis, Horseshoe kidney, Multiple...	ORPHA:99776
Mirizzi Syndrome	Dark urine, Tachycardia, Hyperbilirubinemia	ORPHA:521219
Cardiac Valvular Dysplasia 1	Hydroureter, Tricuspid regurgitation, Tricuspid stenosis, Edema, Valvular pulmonary stenosis, Hyd...	OMIM:212093
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Hypothyroidism, Increased nuchal translucency, Ascending tubular aorta aneurysm, Vesicoureteral r...	ORPHA:453499
Igg4-Related Pachymeningitis	Sinusitis, Elevated circulating C-reactive protein concentration, Lymphadenitis, Nephritis, Pancr...	ORPHA:449427
Encephalocraniocutaneous Lipomatosis	Pelvic kidney, Hydronephrosis, Peripheral pulmonary artery stenosis	OMIM:613001
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Renal insufficiency, Hypoplasia of penis, Telangiectasia of the skin, Renal hypoplasia, Hypothyro...	ORPHA:85321
Cenani-Lenz Syndactyly Syndrome	Renal agenesis, Renal hypoplasia, Pulmonic stenosis, Ectopic kidney	OMIM:212780
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Hydronephrosis	ORPHA:457193
Dyrk1A-Related Intellectual Disability Syndrome	Aortic regurgitation, Failure to thrive, Hypospadias, Anterior pituitary hypoplasia, Unilateral r...	ORPHA:464306
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Proteinuria, Failure to thrive in infancy, Chronic kidney disease, Tubulointerstitial nephritis, ...	ORPHA:488627
Mckusick-Kaufman Syndrome	Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Glandular hypospadias...	ORPHA:2473
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Abnormal autonomic nervous system physiology, Optic atrophy, Bradycardia	OMIM:614498
Adams-Oliver Syndrome 6	Tricuspid regurgitation, Renal hypoplasia, Portal hypertension	OMIM:616589
Cystic Fibrosis	Recurrent pneumonia, Bronchiectasis, Hypercalciuria, Dehydration, Failure to thrive, Chronic sinu...	OMIM:219700
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Lactic acidosis, Cardiomyopathy, Hypertrophic cardiomyopathy	OMIM:615119
Congenital Tufting Enteropathy	Dehydration, Weight loss, Arthritis, Punctate keratitis, Failure to thrive	ORPHA:92050
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Hematuria, Tubulointerstitial nephritis, Proteinuria	OMIM:616901
Pfeiffer Syndrome Type 3	Vesicoureteral reflux, Hydronephrosis, Horseshoe kidney	ORPHA:93260
Takenouchi-Kosaki Syndrome	Hypospadias, Unilateral renal agenesis, Lymphedema, Pulmonic stenosis, Hydronephrosis	OMIM:616737
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Neurogenic bladder, Optic atrophy, Abnormal autonomic nervous system physiology, Hepatosplenomegaly	ORPHA:466934
1Q21.1 Microdeletion Syndrome	Vesicoureteral reflux, Failure to thrive, Hydronephrosis, Interrupted aortic arch	ORPHA:250989
Hyperkalemic Periodic Paralysis	Hyperkalemia	OMIM:170500
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Heart block, Premature ventricular contraction	ORPHA:1964
Baraitser-Winter Cerebrofrontofacial Syndrome	Hydroureter, Palpebral edema, Transient ischemic attack, Abnormality of the upper urinary tract, ...	ORPHA:2995
Duane-Radial Ray Syndrome	Renal malrotation, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Cro...	OMIM:607323
Lysinuric Protein Intolerance	Failure to thrive, Hypolysinemia, Increased serum lactate, Increased circulating ferritin concent...	OMIM:222700
Mitochondrial Complex I Deficiency, Nuclear Type 8	Increased serum lactate, Lactic acidosis, Pancreatitis	OMIM:618230
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Overweight, Metabolic acidosis, Renal tubular acidosis, Hematochezia, Recurrent otitis media, Fai...	OMIM:619575
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Lactic acidosis, Hypertrophic cardiomyopathy	ORPHA:1369
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Elevated circulating acylcarnitine concentration, Increased serum lactate, Lactic acidosis, Abnor...	OMIM:615838
Microphthalmia, Lenz Type	Hydroureter, Hypospadias, Hydronephrosis, Renal hypoplasia/aplasia	ORPHA:568
Glycogen Storage Disease Ixa1	Lactic acidosis, Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia	OMIM:306000
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Small for gestational age, Elevated circulating creatine kinase con...	OMIM:618775
Acute Liver Failure	Shock, Gastrointestinal hemorrhage, Ataxia, Hyperammonemia, Intracranial hemorrhage, Hypotension,...	ORPHA:90062
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Vacterl Association With Hydrocephalus	Stillbirth, Renal hypoplasia	OMIM:276950
X-Linked Dominant Chondrodysplasia Punctata	Hydronephrosis, Erythroderma	ORPHA:35173
Stromme Syndrome	Stillbirth, Bilateral renal hypoplasia, Hydronephrosis	OMIM:243605
Hyperphosphatasia-Intellectual Disability Syndrome	Telangiectasia, Hydronephrosis, Oligohydramnios	ORPHA:247262
Alexander Disease Type Ii	Urinary bladder sphincter dysfunction, Abnormal autonomic nervous system physiology	ORPHA:363722
Fanconi Anemia, Complementation Group I	Decreased response to growth hormone stimulation test, Abnormal renal morphology, Renal hypoplasi...	OMIM:609053
Imerslund-Gräsbeck Syndrome	Tachycardia, Proteinuria	ORPHA:35858
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Increased serum lactate, Failure to thrive, Metabolic acidosis	ORPHA:88639
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Abnormal autonomic nervous system physiology, Urinary incontinence, Orthostatic h...	OMIM:105210
3-Hydroxyisobutyric Aciduria	Lactic acidosis, Hypogonadotropic hypogonadism	ORPHA:939
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Recurrent urinary tract infections, Perianal abscess, Urachus fistula, Mitral regurgitation, Pann...	OMIM:612541
Mitochondrial Myopathy And Sideroblastic Anemia	Lactic acidosis, Delayed puberty	ORPHA:2598
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Elevated circulating creatine kinase concentration, Increased serum lactate, Obesity, Heart murmu...	OMIM:615418
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Lactic acidosis, Increased serum lactate	ORPHA:139485
15Q Overgrowth Syndrome	Tricuspid regurgitation, Ureterovesical stenosis, Abnormal renal morphology, Horseshoe kidney, Mi...	ORPHA:314585
Mitochondrial Complex I Deficiency, Nuclear Type 1	3-hydroxydicarboxylic aciduria, Elevated lactate:pyruvate ratio, Hypospadias, Lacticaciduria, Con...	OMIM:252010
Rh Deficiency Syndrome	Tachycardia, Reduced haptoglobin level, Hyperbilirubinemia	ORPHA:71275
Kabuki Syndrome	Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena...	ORPHA:2322
Non-Functioning Pituitary Adenoma	Hypotension	ORPHA:91349
Tsh-Secreting Pituitary Adenoma	Supraventricular arrhythmia, Congestive heart failure, Hypertension, Hypokalemia, Palpitations, H...	ORPHA:91347
Marden-Walker Syndrome	Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia...	ORPHA:2461
Hyperuricemic Nephropathy, Familial Juvenile, 3	Impaired renal concentrating ability, Renal insufficiency, Hyperuricemia, Abnormal renal insterst...	OMIM:614227
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Hydroureter, Elevated circulating alpha-fetoprotein concentration, Increased nuchal translucency,...	ORPHA:280633
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hypospadias, Heart murmur, Intracranial hemorrhage, Hypocalcemia, Hyperbilirubinemia, Interrupted...	ORPHA:163979
Cat Eye Syndrome	Renal agenesis, Horseshoe kidney, Pulmonic stenosis, Vesicoureteral reflux, Hydronephrosis	OMIM:115470
Cornelia De Lange Syndrome 1	Hypospadias, Proteinuria, Ectopic kidney, Abnormal renal morphology, Vesicoureteral reflux, Renal...	OMIM:122470
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Hyperkalemia, Hypotension	ORPHA:293978
Cerebellar-Facial-Dental Syndrome	Ascending tubular aorta aneurysm, Abnormal T-wave, Ureteropelvic junction obstruction, Failure to...	ORPHA:444072
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Unilateral renal agenesis, Adrenal hypoplasia, Elevated 8-dehydrocholesterol, Elevated 8(9)-chole...	OMIM:308050
Trisomy 20P	Hypospadias, Abnormality of the kidney, Abnormality of the ureter, Abnormal localization of kidne...	ORPHA:261318
Mitochondrial Complex I Deficiency, Nuclear Type 17	Lactic acidosis, Increased serum lactate	OMIM:618239
Au-Kline Syndrome	Chronic kidney disease, Dilatation of the renal pelvis, Hypertension, Aortic root aneurysm, Vesic...	OMIM:616580
Mckusick-Kaufman Syndrome	Hydroureter, Edema, Pedal edema, Polycystic kidney dysplasia, Vesicovaginal fistula, Hydronephrosis	OMIM:236700
12Q14 Microdeletion Syndrome	Diabetes mellitus, Ectopic kidney, Renal hypoplasia, Horseshoe kidney, Failure to thrive	ORPHA:94063
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypothyroidism, Hypertensio...	ORPHA:90065
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia	OMIM:605676
Cardiomyopathy, Familial Hypertrophic, 4	Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degree atrioventricular bl...	OMIM:115197
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1	Elevated circulating hexacosanoic acid concentration, Increased serum lactate, Lactic acidosis, H...	OMIM:614388
Autosomal Recessive Spastic Paraplegia Type 20	Hydronephrosis, Dysuria	ORPHA:101000
Developmental Delay With Or Without Dysmorphic Facies And Autism	Renal hypoplasia, Renal cyst, Coarctation of aorta, Microphallus, Vesicoureteral reflux, Pulmonar...	OMIM:618454
Biotinidase Deficiency	Skin rash, Recurrent skin infections, Metabolic ketoacidosis, Seborrheic dermatitis, Hyperammonem...	OMIM:253260
Sjogren Syndrome	Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Xerostomia, Rheumatoid arthritis	OMIM:270150
8P Inverted Duplication/Deletion Syndrome	Precocious puberty, Micropenis, Abnormality of the urinary system, Hydronephrosis	ORPHA:96092
Combined Oxidative Phosphorylation Deficiency 41	Lactic acidosis, Decreased circulating cortisol level, Nonimmune hydrops fetalis, Elevated circul...	OMIM:618838
Chromosome 17Q12 Deletion Syndrome	Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Unil...	OMIM:614527
Musculocontractural Ehlers-Danlos Syndrome	Recurrent skin infections, Functional abnormality of the bladder, Nephrolithiasis, Horseshoe kidn...	ORPHA:2953
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Ureteral triplication, Hydronephrosis	OMIM:104350
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Hydronephrosis, Polyhydramnios	ORPHA:254528
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Pulmonary artery stenosis, Posterior pituitary hypoplasia, Abnormality of the anterior pituitary,...	ORPHA:75389
Cockayne Syndrome Type 3	Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Subdural hemorrh...	ORPHA:90324
Tricarboxylic Acid Cycle, Defect Of	Persistent lactic acidosis	OMIM:275370
Dilated Cardiomyopathy With Ataxia	Prolonged QT interval, Hypoplasia of penis, Increased serum lactate, Dilated cardiomyopathy, Peri...	ORPHA:66634
Leukodystrophy, Hypomyelinating, 12	Neurogenic bladder, Optic atrophy, Abnormal autonomic nervous system physiology	OMIM:616683
Intellectual Developmental Disorder, Autosomal Dominant 53	Micropenis, Hydronephrosis	OMIM:617798
Diarrhea 12, With Microvillus Atrophy	Metabolic acidosis, Bronchiectasis	OMIM:619445
Mccune-Albright Syndrome	Hyperphosphaturia, Hyperthyroidism, Pancytopenia, Elevated circulating growth hormone concentrati...	ORPHA:562
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Increased serum lactate, Increased circulating ferritin concentration, Lactic acidosis, Delayed p...	OMIM:600462
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Genitopatellar Syndrome	Multicystic kidney dysplasia, Hydronephrosis	ORPHA:85201
Holoprosencephaly 3	Central diabetes insipidus, Hydronephrosis	OMIM:142945
Prolactinoma	Hypotension	ORPHA:2965
Meckel Syndrome 12	Ureteral hypoplasia, Bilateral renal agenesis, Renal hypoplasia, Oligohydramnios	OMIM:616258
Pyruvate Dehydrogenase Phosphatase Deficiency	Lactic acidosis	OMIM:608782
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc...	ORPHA:3453
Brain-Lung-Thyroid Syndrome	Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Hyperactivity, Hypospadias, Abnorma...	ORPHA:209905
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Severe lactic acidosis, Mildly elevated creatine kinase, Decreased circulating carnitine concentr...	ORPHA:254864
Succinic Acidemia	Lactic acidosis	OMIM:600335
Phenformin 4-Hydroxylation	Lactic acidosis	OMIM:261590
Visceral Neuropathy, Familial, 1, Autosomal Recessive	Aganglionic megacolon, Abnormal autonomic nervous system physiology	OMIM:243180
Intermediate Uveitis	Anterior uveitis, Psoriasiform dermatitis, Vasculitis, Macular edema, Tubulointerstitial nephriti...	ORPHA:279914
Matthew-Wood Syndrome	Vesicoureteral reflux, Failure to thrive, Renal hypoplasia, Horseshoe kidney	ORPHA:2470
Mitochondrial Myopathy, Lethal, Infantile	Lactic acidosis	OMIM:551000
Pierson Syndrome	Diffuse mesangial sclerosis, Proteinuria, Edema, Stage 5 chronic kidney disease, Retinal hemorrha...	OMIM:609049
Pelvis-Shoulder Dysplasia	Hydronephrosis	ORPHA:2839
Teebi-Shaltout Syndrome	Aortic valve stenosis, Ureteral stenosis, Hydronephrosis, Horseshoe kidney	OMIM:272950
Mosaic Trisomy 8	Vesicoureteral reflux, Hydronephrosis	ORPHA:96061
Mitochondrial Dna Depletion Syndrome 17	Acidosis, Low plasma citrulline, Hyperammonemia	OMIM:618567
Fanconi Anemia, Complementation Group W	Decreased response to growth hormone stimulation test, Renal hypoplasia	OMIM:617784
Illum Syndrome	Calcinosis, Bradycardia	OMIM:208155
Craniofacioskeletal Syndrome	Hydronephrosis, Hypospadias, Hypocalcemia, Interrupted aortic arch	OMIM:300712
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Scalp-Ear-Nipple Syndrome	Renal insufficiency, Palpebral edema, Unilateral renal agenesis, Congestive heart failure, Renal ...	OMIM:181270
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Renal dysplasia, Abnormality of thyroid physiology, Hydronephrosis	OMIM:300968
Cardiofaciocutaneous Syndrome 1	Polyhydramnios, Atopic dermatitis, Pulmonic stenosis, Hypertrophic cardiomyopathy, Failure to thr...	OMIM:115150
Occipital Horn Syndrome	Orthostatic hypotension, Decreased circulating ceruloplasmin concentration, Decreased circulating...	OMIM:304150
Autosomal Recessive Cutis Laxa Type 1	Recurrent urinary tract infections, Abnormal cardiac ventricular function, Congestive heart failu...	ORPHA:90349
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Elevated lactate:pyruvate ratio, Increased serum lactate, Stress/infection-induced lactic acidosi...	OMIM:252011
Eec Syndrome	Hypospadias, Decreased response to growth hormone stimulation test, Renal hypoplasia/aplasia, Ker...	ORPHA:1896
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Increased serum pyruvate, Elevated lactate:pyruvate ratio, Cardiac arrest, Increased serum lactat...	OMIM:604377
Distal Limb Deficiencies-Micrognathia Syndrome	Renal insufficiency, Proteinuria, Renal hypoplasia	ORPHA:1307
Graft Versus Host Disease	Tachycardia, Hyperbilirubinemia	ORPHA:39812
Fanconi Anemia, Complementation Group F	Failure to thrive, Decreased response to growth hormone stimulation test, Polyhydramnios, Pneumon...	OMIM:603467
Cardiofaciocutaneous Syndrome	Failure to thrive in infancy, Lymphedema, Pulmonic stenosis, Hypertrophic cardiomyopathy, Hydrone...	ORPHA:1340
Adult-Onset Autosomal Dominant Leukodystrophy	Anhidrosis, Recurrent urinary tract infections, Orthostatic hypotension, Abnormal auditory evoked...	ORPHA:99027
Mitochondrial Neurogastrointestinal Encephalomyopathy	Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cachexia, Weight loss, Lactic acid...	ORPHA:298
White-Kernohan Syndrome	Hydroureter, Obesity, Horseshoe kidney, Recurrent otitis media, Hypothyroidism, Hydronephrosis	OMIM:619426
Monosomy 22Q13.3	Palpebral edema, Recurrent skin infections, Lymphedema, Obesity, Hydronephrosis, Vesicoureteral r...	ORPHA:48652
Gabriele-De Vries Syndrome	Ureteropelvic junction obstruction, Hydronephrosis, Aortopulmonary collateral arteries	OMIM:617557
Cutis Laxa, Autosomal Recessive, Type Ic	Adrenal hypoplasia, Periorbital edema, Recurrent pneumonia, Hypoplasia of the thymus, Multiple bl...	OMIM:613177
Distal Deletion 12Q	Late onset atopic dermatitis, Diabetes mellitus, Failure to thrive in infancy, Maturity-onset dia...	ORPHA:96149
Listeriosis	Pericarditis, Osteomyelitis, Pneumonia, Pustule, Congestive heart failure, Myocarditis, Peritonit...	ORPHA:533
Mitochondrial Complex I Deficiency, Nuclear Type 19	Lactic acidosis, Hypertrophic cardiomyopathy	OMIM:618241
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Pulmonary artery dilatation, Hydroureter, Hypospadias, Nonimmune hydrops fetalis, Polyhydramnios,...	OMIM:265380
Raine Syndrome	Neonatal death, Hydroureter, Hydronephrosis, Hypophosphatemia	OMIM:259775
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ...	ORPHA:786
Short Stature, Microcephaly, And Endocrine Dysfunction	Diabetes mellitus, Unilateral renal agenesis, Ectopic kidney, Dilated cardiomyopathy, Renal hypop...	OMIM:616541
Congenital Alveolar Capillary Dysplasia	Pulmonary arterial hypertension, Aortic valve stenosis, Hydronephrosis	ORPHA:210122
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Ketonuria, Hypospadias, Small for gestational age, Increased serum lactate, Hyperammonemia, Coarc...	OMIM:220111
Smith-Lemli-Opitz Syndrome	Renal cyst, Hypoalbuminemia, Hypocholesterolemia, Micropenis, Penoscrotal hypospadias, Hypospadia...	OMIM:270400
Microcephaly 20, Primary, Autosomal Recessive	Ureteral agenesis, Hyperechogenic kidneys, Bilateral renal agenesis, Renal hypoplasia	OMIM:617914
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Recurrent urinary tract infections, Hypoplasia of penis, Abnormality of the kidney, Infectious en...	ORPHA:847
Thakker-Donnai Syndrome	Hydronephrosis	ORPHA:1780
Netherton Syndrome	Hypernatremic dehydration, Recurrent skin infections, Eczema, Allergic rhinitis, Angioedema, Chro...	OMIM:256500
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Congestive heart failure, Reduced...	ORPHA:980
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Urethral atresia, Hydronephrosis, Oligohydramnios	OMIM:271520
15q26 overgrowth syndrome	Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys...	DECIPHER:81
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Elevated circulating creatine kinase concentration, Premature ventricular contraction	OMIM:617072
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Multicystic kidney dysplasia, Elevated circulating creatine kinase concentration, Hydromyelia, Mi...	OMIM:615287
Posttransplant Acute Limbic Encephalitis	Abnormal autonomic nervous system physiology	ORPHA:163921
Zollinger-Ellison Syndrome	Increased urinary cortisol level, Gastrointestinal hemorrhage, Hyperparathyroidism, Pituitary nul...	ORPHA:913
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Renal dysplasia, Duplicated collecting system, Hydroureter, Hypogonadotropic hypogonadism, Decrea...	OMIM:604292
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Recurrent pneumonia, Male urethral meatus stenosis, Pulmonary arterial hypertension,...	ORPHA:464738
Grange Syndrome	Carotid artery stenosis, Renovascular hypertension, Renal artery stenosis, Decreased body weight,...	OMIM:602531
Melnick-Needles Syndrome	Ureteral stenosis, Stillbirth, Recurrent otitis media, Pulmonary arterial hypertension, Failure t...	OMIM:309350
Alg9-Cdg	Hypoplasia of the bladder, Tricuspid regurgitation, Ureteral hypoplasia, Pericardial effusion, Hy...	ORPHA:79328
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Vesicoureteral reflux, Renal atrophy, Hypospadias	OMIM:618659
Sickle Cell Anemia	Osteomyelitis, Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia	ORPHA:232
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Tubulointerstitial nephritis, Aortic valve stenosis, Enuresis, Abnormality of the kidney	ORPHA:459061
Autosomal Recessive Hypophosphatemic Rickets	Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Enthesitis, Renal phos...	ORPHA:289176
Pigmented Nodular Adrenocortical Disease, Primary, 3	Increased circulating cortisol level, Adrenal hyperplasia	OMIM:614190
Cardiac Diverticulum	Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Ven...	ORPHA:1686
Trisomy 18	Cachexia, Hydronephrosis, Abnormality of the upper urinary tract, Oligohydramnios	ORPHA:3380
Otopalatodigital Syndrome Type 2	Hydronephrosis, Failure to thrive, Hypospadias, Ureteral obstruction	ORPHA:90652
Dend Syndrome	Elevated hemoglobin A1c, Dehydration	ORPHA:79134
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Arrhythmia, Paroxysmal supraventricular tachycardia, Pulmonic stenosis	OMIM:617877
Campomelic Dysplasia	Hydronephrosis	ORPHA:140
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Right axis deviation, Increased circulating NT-proBNP concentrati...	OMIM:232300
7Q11.23 Microduplication Syndrome	Hypospadias, Unilateral renal agenesis, Obesity, Enuresis, Chronic otitis media, Aortic valve ste...	ORPHA:96121
Opitz Gbbb Syndrome	Hypospadias, Coarctation of aorta, Aortic root aneurysm, Abnormality of the urinary system, Vesic...	ORPHA:2745
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Micropenis, Renal agenesis, Hypospadias, Hydronephrosis	OMIM:301040
Alternating Hemiplegia Of Childhood	Cardiac conduction abnormality, Dehydration, Cardiomyopathy, Abnormal T-wave, Arrhythmia, Failure...	ORPHA:2131
Machado-Joseph Disease	Urinary bladder sphincter dysfunction, Abnormal autonomic nervous system physiology	OMIM:109150
Digeorge Syndrome	Renal dysplasia, Renal insufficiency, Parathyroid agenesis, Acne, Decreased circulating parathyro...	OMIM:188400
Bangstad Syndrome	Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri...	ORPHA:1227
Leigh Syndrome	Lactic acidosis, Failure to thrive, Increased serum lactate	OMIM:256000
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Vesicoureteral reflux, Mitral stenosis, Aortic valve stenosis, Renal hypoplasia	OMIM:617660
Koolen-De Vries Syndrome Due To A Point Mutation	Recurrent urinary tract infections, Hypospadias, Decreased response to growth hormone stimulation...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Recurrent urinary tract infections, Hypospadias, Decreased response to growth hormone stimulation...	ORPHA:363958
Mitochondrial Dna-Associated Leigh Syndrome	Multiple glomerular cysts, Cardiac conduction abnormality, Increased serum lactate, Low plasma ci...	ORPHA:255210
Mccune-Albright Syndrome	Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio...	OMIM:174800
Pyridoxine-Dependent Epilepsy	Lactic acidosis	ORPHA:3006
Glutathione Synthetase Deficiency	Chronic metabolic acidosis	ORPHA:32
Plague	Tachycardia, Hematemesis, Unsteady gait, Hypotension, Arrhythmia	ORPHA:707
Caribbean Parkinsonism	Orthostatic hypotension, Abnormal autonomic nervous system physiology, Autonomic bladder dysfunction	ORPHA:97355
Fryns Syndrome	Ureteral duplication, Renal agenesis, Hypospadias, Polyhydramnios, Large for gestational age, Ren...	OMIM:229850
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Telangiectasia of the skin, Renal hypoplasia/aplasia, Horseshoe kid...	ORPHA:2092
Microcephaly, Amish Type	Lactic acidosis, Failure to thrive	OMIM:607196
Autosomal Dominant Cutis Laxa	Aortic regurgitation, Unilateral renal agenesis, Congestive heart failure, Bronchiectasis, Pyelon...	ORPHA:90348
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Recurrent urinary tract infections, Sinusitis, Recurrent pneumonia, ...	OMIM:251260
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Hypertriglyceridemia, Small for gestational age, Necrotizing enterocolitis, E...	OMIM:619573
Familial Pseudohyperkalemia	Hypertension, Hyperkalemia	ORPHA:90044
Periodic Fever, Menstrual Cycle-Dependent	Increased circulating cortisol level	OMIM:614674
Tarp Syndrome	Failure to thrive, Hydronephrosis, Horseshoe kidney	ORPHA:2886
Combined Oxidative Phosphorylation Defect Type 23	Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject...	ORPHA:444013
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Lactic acidosis, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hyperglycinemia	OMIM:614299
Robinow Syndrome	Multicystic kidney dysplasia, Small for gestational age, Micropenis, Coarctation of aorta, Pulmon...	ORPHA:97360
Inherited Creutzfeldt-Jakob Disease	Vestibular nystagmus, Abnormal autonomic nervous system physiology	ORPHA:282166
Insensitivity To Pain, Congenital, With Anhidrosis	Anhidrosis, Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system...	OMIM:256800
Frontometaphyseal Dysplasia 1	Hydroureter, Hydronephrosis	OMIM:305620
Orofaciodigital Syndrome Type 1	Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hypertension, Chronic otitis medi...	ORPHA:2750
Intellectual Developmental Disorder, Autosomal Dominant 42	Neurogenic bladder, Aggressive behavior, Phonic tics, Congenital hypothyroidism, Attention defici...	OMIM:616973
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Hyperkalemia, Increased ...	ORPHA:90790
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Renal dysplasia, Duplicated collecting system, Hydroureter, Hypogonadotropic hypogonadism, Decrea...	OMIM:129900
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent urinary tract infections, Hypospadias, Pneumonia, Cardiac conduction abnormality, Nephr...	ORPHA:353281
Homozygous Familial Hypercholesterolemia	Myocardial infarction, Precocious atherosclerosis, Abnormal left ventricular function, Premature ...	ORPHA:391665
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Hypospadias, Unilateral renal agenesis, Lymphedema, Abnormality of the endocrine system, Hydronep...	ORPHA:487796
Simpson-Golabi-Behmel Syndrome	Prolonged QT interval, Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, H...	ORPHA:373
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Arrhythmia, Elevated circulating creatine kinase concentration, Ventricular bigeminy, Left bundle...	OMIM:610131
Tremor-Ataxia-Central Hypomyelination Syndrome	Hypogonadotropic hypogonadism, Optic atrophy, Autonomic bladder dysfunction, Delayed puberty	ORPHA:447896
Parkinson Disease, Late-Onset	Urinary urgency, Abnormal autonomic nervous system physiology	OMIM:168600
Trisomy 8P	Fetal pyelectasis, Heart murmur, Nephrocalcinosis, Micropenis, Hydronephrosis, Peripheral pulmona...	ORPHA:264450
45,X/46,Xy Mixed Gonadal Dysgenesis	Prolonged QT interval, Tachycardia, Hypospadias, Abnormality of the kidney, Epispadias, Horseshoe...	ORPHA:1772
Biotinidase Deficiency	Skin rash, Metabolic ketoacidosis, Hyperammonemia, Organic aciduria, Conjunctivitis, Eczematoid d...	ORPHA:79241
Neurodegeneration And Seizures Due To Copper Transport Defect	Tricuspid regurgitation, Increased serum lactate, Glandular hypospadias, Abnormal circulating cer...	OMIM:620306
Infantile Neuroaxonal Dystrophy	Optic atrophy, Abnormal autonomic nervous system physiology, Abnormality of peripheral nerve cond...	ORPHA:35069
Fraser Syndrome 2	Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Aplasia of the bl...	OMIM:617666
Floating-Harbor Syndrome	Hypospadias, Renal agenesis, Small for gestational age, Precocious puberty, Dilatation of the ren...	ORPHA:2044
Acute Transverse Myelitis	Orthostatic hypotension, Urinary incontinence, Subarachnoid hemorrhage, Hypertension, Urinary ret...	ORPHA:139417
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Adrenocortical adenoma, Mildly elevated creatine kinase, Impaired myocardia...	ORPHA:681
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Abnormal autonomic nervous system physiology, Urinary incontinence, Abnormal cranial nerve morpho...	ORPHA:247234
Cousin Syndrome	Hydronephrosis	OMIM:260660
Vater/Vacterl Association	Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Patent urachus, Vesicoureteral refl...	OMIM:192350
Mitochondrial Phosphate Carrier Deficiency	Metabolic acidosis, Lactic acidosis, Hypertrophic cardiomyopathy	OMIM:610773
Apert Syndrome	Chronic otitis media, Overriding aorta, Acne, Hydronephrosis	OMIM:101200
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Elevated lactate:pyruvate ratio, Elevated circulating creatine kinase concentration...	OMIM:610505
Oeis Complex	Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal fistula, Mic...	OMIM:258040
Infantile Liver Failure Syndrome 1	Lactic acidosis, Failure to thrive	OMIM:615438
Dietary Iron Overload Disease	Diabetes mellitus, Congestive heart failure, Abnormal thyroid morphology, Increased circulating c...	ORPHA:139507
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Hypergonadotropic hypogonadism, Iridocyclitis, Primary adrenal insufficiency,...	ORPHA:227990
Acute Lung Injury	Shock, Elevated circulating C-reactive protein concentration, Diffuse alveolar hemorrhage, Increa...	ORPHA:178320
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Iridocyclitis,...	ORPHA:227982
Lactic Acidosis, Chronic Adult Form	Hyperuricemia, Chronic lactic acidosis	OMIM:150170
Robinow Syndrome, Autosomal Recessive 1	Nephrolithiasis, Nephrocalcinosis, Right ventricular outlet tract obstruction, Micropenis, Hydron...	OMIM:268310
Lambert-Eaton Myasthenic Syndrome	Xerostomia, Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomi...	ORPHA:43393
Autosomal Dominant Progressive External Ophthalmoplegia	Atrial fibrillation, Ataxia, Elevated circulating creatine kinase concentration, Dilated cardiomy...	ORPHA:254892
3Mc Syndrome 1	Conjunctival telangiectasia, Hydronephrosis	OMIM:257920
Mesomelia-Synostoses Syndrome	Hydronephrosis, Polyhydramnios	OMIM:600383
Dubowitz Syndrome	Hypoparathyroidism, Eczema, Hypospadias, Hydronephrosis	ORPHA:235
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Lactic acidosis, Cardiomyopathy, Increased serum lactate	OMIM:617710
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia	OMIM:613345
Schinzel-Giedion Midface Retraction Syndrome	Ureteral stenosis, Hypospadias, Hydroureter, Micropenis, Failure to thrive, Hydronephrosis	OMIM:269150
Hyperglycinemia, Lactic Acidosis, And Seizures	Lactic acidosis, Hypertrophic cardiomyopathy, Increased serum lactate, Cerebral edema	OMIM:614462
Central Hypoventilation Syndrome, Congenital, 1	Aganglionic megacolon, Decreased heart rate variability, Hyperhidrosis, Abnormal autonomic nervou...	OMIM:209880
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Polyhydramnios, Renal hypoplasia/...	ORPHA:818
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Increased nuchal translucency, Vesicoureteral reflux, Hypothyroidism, Hydronephrosis, Aortic aneu...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Increased nuchal translucency, Vesicoureteral reflux, Hypothyroidism, Hydronephrosis, Aortic aneu...	ORPHA:352665
Neurodegeneration With Brain Iron Accumulation 5	Abnormal autonomic nervous system physiology	OMIM:300894
Split Cord Malformation	Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional...	ORPHA:573278
Sarcoidosis	Heart block, Ventricular tachycardia, Uveitis, Nephrocalcinosis, Tubulointerstitial nephritis, Hy...	ORPHA:797
Somatostatinoma	Gastrointestinal hemorrhage, Diabetes mellitus, Elevated circulating growth hormone concentration...	ORPHA:97283
Cushing Disease	Increased urinary cortisol level, Lymphopenia, Adrenal hyperplasia, Diabetes mellitus, Paradoxica...	ORPHA:96253
Tatton-Brown-Rahman Syndrome	Mitral regurgitation, Tricuspid regurgitation, Supraventricular tachycardia with an accessory con...	ORPHA:404443
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ...	OMIM:609136
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Adrenal cortical sclerosis, Diffuse mesangial sclerosis, Inflammatory abnormality of the skin, Si...	OMIM:102700
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Congestive he...	OMIM:620066
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Decreased distal sensory nerve action potential, Abnormal autonomic nervous system physiology	OMIM:614575
Schinzel-Giedion Syndrome	Streak ovary, Hypospadias, Failure to thrive in infancy, Recurrent pneumonia, Abnormality of the ...	ORPHA:798
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Abnormal aortic morphology, Chronic otitis med...	ORPHA:1507
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Duplicated collecting system, Large for gestational age, Pulmonary artery stenosis, Ureteropelvic...	OMIM:280000
Jacobsen Syndrome	Multicystic kidney dysplasia, Eczema, Coarctation of aorta, Aortic valve stenosis, Hydronephrosis	ORPHA:2308
Charge Syndrome	Aortic arch aneurysm, Hypogonadotropic hypogonadism, Polyhydramnios, Horseshoe kidney, Micropenis...	ORPHA:138
Glucagonoma	Gastrointestinal hemorrhage, Diabetes mellitus, Elevated circulating growth hormone concentration...	ORPHA:97280
Multiple Endocrine Neoplasia, Type I	Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno...	OMIM:131100
1P36 Deletion Syndrome	Aortic arch aneurysm, Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Dilated cardio...	ORPHA:1606
Johanson-Blizzard Syndrome	Failure to thrive, Diabetes mellitus, Hypospadias, Small for gestational age, Increased VLDL chol...	OMIM:243800
Combined Oxidative Phosphorylation Deficiency 12	Lactic acidosis, Failure to thrive, Elevated circulating alpha-fetoprotein concentration, Increas...	OMIM:614924
Vici Syndrome	Failure to thrive, Elevated circulating creatine kinase concentration, Congestive heart failure, ...	OMIM:242840
Parkinsonian-Pyramidal Syndrome	Neurogenic bladder, Abnormal autonomic nervous system physiology	ORPHA:171695
Okamoto Syndrome	Urinary incontinence, Unilateral renal hypoplasia, Aortic valve stenosis, Ureteropelvic junction ...	ORPHA:2729
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Polyhydramnios, Cardi...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Polyhydramnios, Cardi...	ORPHA:353277
Non-Acquired Panhypopituitarism	Hypotension	ORPHA:90695
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Aortic regurgitation, Tricuspid regurgitation, Recurrent skin infections, Nephrotic syndrome, Mit...	OMIM:601776
Chime Syndrome	Hydronephrosis, Abnormality of the kidney	ORPHA:3474
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Abnormal atrioventricular conducti...	ORPHA:280365
Syndromic Diarrhea	Aortic regurgitation, Small for gestational age, Gastritis, Renal hypoplasia, Colitis, Hypoplasia...	ORPHA:84064
Tetrasomy 9P	Renal dysplasia, Recurrent urinary tract infections, Pericarditis, Juxtaductal coarctation of the...	ORPHA:3310
Frontometaphyseal Dysplasia	Hydronephrosis, Urethral stenosis, Ureteral obstruction	ORPHA:1826
Haddad Syndrome	Aganglionic megacolon, Abnormal autonomic nervous system physiology	ORPHA:99803
Hydrolethalus Syndrome 1	Hypospadias, Polyhydramnios, Stillbirth, Adrenal gland dysgenesis, Hydronephrosis	OMIM:236680
Glycogen Storage Disease Ixc	Increased serum lactate, Lactic acidosis, Hypertriglyceridemia	OMIM:613027
Charge Syndrome	Hypoparathyroidism, Overriding aorta, Hypogonadotropic hypogonadism, Decreased response to growth...	OMIM:214800
Pyruvate Dehydrogenase E2 Deficiency	Lactic acidosis	OMIM:245348
Gabriele-De Vries Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Ureteropelvic j...	ORPHA:506358
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Decreased serum iron, Abnormality of the endocrine system, Precocious puberty, Abnormality of the...	ORPHA:438213
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Lactic acidosis	ORPHA:1170
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermatitis, Micropeni...	ORPHA:83617
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Episcleritis, Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Ecz...	ORPHA:2273
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Azotemia, Micropenis, Hypoplasia of the ovary, Renal hypoplasia	OMIM:619321
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Nephroblastoma, Renal hypoplasia	OMIM:612918
Wiedemann-Rautenstrauch Syndrome	Recurrent urinary tract infections, Hyperthyroidism, Hypertriglyceridemia, Hypogonadotropic hypog...	ORPHA:3455
Porphyria Cutanea Tarda	Decreased circulating hepcidin concentration, Diabetes mellitus, Abnormal circulating porphyrin c...	ORPHA:101330
Lacrimoauriculodentodigital Syndrome	Xerostomia, Renal hypoplasia, Keratoconjunctivitis, Hydronephrosis, Arthritis, Keratoconjunctivit...	ORPHA:2363
Primary Sjögren Syndrome	Renal insufficiency, Myositis, Chronic active hepatitis, Glomerulonephritis, Abnormality of the k...	ORPHA:289390
Mitochondrial Complex I Deficiency, Nuclear Type 9	Lactic acidosis, Neonatal death	OMIM:618232
Knobloch Syndrome 1	Duplicated collecting system, Bifid ureter, Hydronephrosis, Renal duplication	OMIM:267750
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Optic nerve hypoplasia, Abnormal autonomic nervous system physiology	ORPHA:300570
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormal circulat...	ORPHA:2636
Rubinstein-Taybi Syndrome 1	Hypospadias, Small for gestational age, Polyhydramnios, Premature thelarche, Coarctation of aorta...	OMIM:180849
Exstrophy-Epispadias Complex	Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the kidney, Epispadias...	ORPHA:322
Rett Syndrome	Abnormal autonomic nervous system physiology, Increased serum leptin	ORPHA:778
Arboleda-Tham Syndrome	Recurrent urinary tract infections, Upper eyelid edema, Recurrent otitis media, Conjunctivitis, P...	OMIM:616268
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia	OMIM:170400
Floating-Harbor Syndrome	Hypospadias, Glandular hypospadias, Atopic dermatitis, Coarctation of aorta, Nephrocalcinosis, Co...	OMIM:136140
Doors Syndrome	Increased urine alpha-ketoglutarate concentration, Adrenal hyperplasia, Polyhydramnios, Congenita...	ORPHA:79500
3-Methylglutaconic Aciduria, Type Viii	Increased serum lactate, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Bradycardia, Neo...	OMIM:617248
Peters Plus Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Polyhydramnios, Renal hypoplasia...	ORPHA:709
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Conjugated hyperbilirubinemia, Hyperkalemia	OMIM:608885
Kabuki Syndrome 1	Crossed fused renal ectopia, Premature thelarche, Micropenis, Congenital hypothyroidism, Coarctat...	OMIM:147920
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Abnormal autonomic nervous system physiology	OMIM:617903
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Elevated circulating deoxyuridine concentration, Cachexia, Weight loss, Lactic acidosis, Elevated...	OMIM:603041
Pyruvate Dehydrogenase E1-Beta Deficiency	Lactic acidosis, Decreased body weight	ORPHA:255138
Williams-Beuren Syndrome	Nephrocalcinosis, Early onset of sexual maturation, Vesicoureteral reflux, Micropenis, Pelvic kid...	OMIM:194050
Osteogenesis Imperfecta, Type Vii	Absent pulmonary artery, Hydronephrosis	OMIM:610682
Williams Syndrome	Hypoplasia of penis, Elevated circulating creatine kinase concentration, Myocardial infarction, P...	ORPHA:904
Campomelic Dysplasia	Failure to thrive, Hypospadias, Hydronephrosis, Polyhydramnios	OMIM:114290
Paternal Uniparental Disomy Of Chromosome 6	Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Dehydration, Oligohydramnios	ORPHA:96191
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Grade III vesicoureteral r...	OMIM:619522
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Osteomyelitis leading to amputation due to slow healing fractures, Lactic acidosis, Ascites, Meta...	OMIM:256810
Ppoma	Gastrointestinal hemorrhage, Elevated circulating growth hormone concentration, Abnormality of th...	ORPHA:97278
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Sinusitis, Renal hypoplasia/aplasia, Abnormal renal morphology, Mitral regurgitation, Pulmonic st...	ORPHA:363700
Proximal Spinal Muscular Atrophy	Metabolic acidosis, Recurrent aspiration pneumonia, Bradycardia	ORPHA:70
Grfoma	Gastrointestinal hemorrhage, Elevated circulating growth hormone concentration, Neoplasm of the t...	ORPHA:97261
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Hydrops fetalis, Hydro...	ORPHA:93271
Tick-Borne Encephalitis	Facial palsy, Leukocytosis, Abnormal glossopharyngeal nerve morphology, Leukopenia, Abnormal auto...	ORPHA:297
Sotos Syndrome	Ureteral duplication, Renal insufficiency, Hypospadias, Hypercalcemia, Abnormality of the kidney,...	ORPHA:821
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hematochezia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:175500
Combined Oxidative Phosphorylation Defect Type 29	Abnormal autonomic nervous system physiology, Optic neuropathy	ORPHA:478029
Stuve-Wiedemann Syndrome 1	Pulmonary arterial hypertension, Abnormal autonomic nervous system physiology, Hyperhidrosis	OMIM:601559
Cardiac-Urogenital Syndrome	Tachycardia, Penoscrotal hypospadias, Patent urachus, Micropenis, Enlarged kidney	OMIM:618280
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Lactic acidosis, Increased serum lactate, Cerebral edema	OMIM:617186
Young-Onset Parkinson Disease	Abnormal autonomic nervous system physiology	ORPHA:2828
Parkinson Disease 23, Autosomal Recessive Early-Onset	Abnormal autonomic nervous system physiology	OMIM:616840
Combined Pituitary Hormone Deficiencies, Genetic Forms	Hypotension	ORPHA:95494
Ramos-Arroyo Syndrome	Xerostomia, Aganglionic megacolon, Abnormal autonomic nervous system physiology	ORPHA:1051
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Neoplasm of the...	ORPHA:99889
Steinert Myotonic Dystrophy	Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dysfunction, Cardiac conduc...	ORPHA:273
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Palpebral edema, Facial edema, Xerostomia, Thyroiditis, Weight loss, Tubulointerstitial...	ORPHA:79078
Robinow Syndrome, Autosomal Dominant 1	Micropenis, Hydronephrosis, Right ventricular outlet tract obstruction, Renal duplication	OMIM:180700
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hydronephrosis, Recurrent pneumonia, Eczema, Hypocalcemia	OMIM:620330
Genitopatellar Syndrome	Multicystic kidney dysplasia, Polyhydramnios, Micropenis, Hypothyroidism, Hydronephrosis	OMIM:606170
Simpson-Golabi-Behmel Syndrome, Type 1	Hypospadias, Polyhydramnios, Renal cyst, Duplication of renal pelvis, Cardiomyopathy, Pancreatic ...	OMIM:312870
Viss Syndrome	Chronic gastritis, Epidural hemorrhage, Abnormal branching pattern of the aortic arch, Polyhydram...	OMIM:619472
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Abnormal heart valve physiology, Pulmonic stenosis	ORPHA:3384
Cranioectodermal Dysplasia 1	Renal magnesium wasting, Chronic kidney disease, Stage 5 chronic kidney disease, Tubulointerstiti...	OMIM:218330
Alkaptonuria	Elevated urinary homogentisic acid, Nephrolithiasis, Decreased glomerular filtration rate	OMIM:203500
Andersen Cardiodysrhythmic Periodic Paralysis	Prolonged QT interval, Hyperthyroidism, Bidirectional ventricular ectopy, Hypokalemia, Syncope, P...	OMIM:170390
Linear Skin Defects With Multiple Congenital Anomalies 1	Hypospadias, Junctional ectopic tachycardia, Micropenis, Chordee, Histiocytoid cardiomyopathy, Ar...	OMIM:309801
Peters-Plus Syndrome	Ureteral duplication, Hypospadias, Polyhydramnios, Renal hypoplasia, Pulmonic stenosis, Decreased...	OMIM:261540
Wars2-Related Combined Oxidative Phosphorylation Defect	Lactic acidosis, Cardiomyopathy, Increased serum lactate	ORPHA:572798
Fibrous Dysplasia Of Bone	Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Elevated circulating growth ho...	ORPHA:249
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Renal dysplasia, Abnormal circulating thyroid hormone concentration, Cardiomyopathy, Delayed pube...	ORPHA:480880
Coffin-Siris Syndrome 1	Hydroureter, Hypospadias, Ectopic kidney, Renal hypoplasia, Hydronephrosis	OMIM:135900
Nmda Receptor Encephalitis	Orthostatic hypotension, Orthostatic tachycardia, Neoplasm of the thymus, Abnormal autonomic nerv...	ORPHA:217253
Focal Dermal Hypoplasia	Ureteral duplication, Horseshoe kidney, Telangiectasia, Bifid ureter, Hydronephrosis	OMIM:305600
Leprosy	Epistaxis, Abnormality of the spleen, Abnormality of the seventh cranial nerve, Hypohidrosis, Abn...	ORPHA:548
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Multicystic kidney dysplasia, Failure to thrive, Hypospadias, Urinary incontinence, Pulmonary art...	ORPHA:261537
Otopalatodigital Syndrome, Type Ii	Dilatation of the sinus of Valsalva, Stillbirth, Hypospadias, Hydronephrosis	OMIM:304120
Mowat-Wilson Syndrome	Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Abnormality of the kidney, Pulmo...	ORPHA:2152
Heterotaxy, Visceral, 5, Autosomal	Atrial reentry tachycardia, Ureteral duplication, Ureteral stenosis, Renal hypoplasia, Coarctatio...	OMIM:270100
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Multicystic kidney dysplasia, Failure to thrive, Hypospadias, Urinary incontinence, Pulmonary art...	ORPHA:261552
Legius Syndrome	Paroxysmal atrial tachycardia, Nephrolithiasis, Male urethral meatus stenosis, Pulmonic stenosis,...	ORPHA:137605
Choreoacanthocytosis	Acanthocytosis, Abnormal erythrocyte enzyme level, Splenomegaly, Dilated cardiomyopathy, Abnormal...	ORPHA:2388
Congenital Total Pulmonary Venous Return Anomaly	Tachycardia, Tricuspid regurgitation, Right ventricular failure, Low-output congestive heart fail...	ORPHA:99125
Stüve-Wiedemann Syndrome	Hypohidrosis, Hyperhidrosis, Abnormal autonomic nervous system physiology, Ectopic thyroid, Hypot...	ORPHA:3206
Juvenile Polyposis Syndrome	Hematochezia, Hypokalemia, Hypoalbuminemia	OMIM:174900
Carney Complex	Euthyroid multinodular goiter, Follicular thyroid carcinoma, Elevated circulating growth hormone ...	ORPHA:1359
Marshall-Smith Syndrome	Pulmonary arterial hypertension, Hypertension, Premature ventricular contraction	OMIM:602535
Vascular Ehlers-Danlos Syndrome	Hypospadias, Telangiectasia of the skin, Transient ischemic attack, Cystocele, Renovascular hyper...	ORPHA:286
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Hypokalemia	OMIM:618426

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ren1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ren1.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Ren1^{Ren-1c Enhancer KO}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Ren1^{Ren-1c Enhancer KO}	PMC6459510

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Ren1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Ren1^{tm107149(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Ren1^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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