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Gene: Hsd11b2 MGI:104720

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
hydroxysteroid 11-beta dehydrogenase 2
Synonyms:
11(beta)-HSD2,  11HSD2

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • 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.

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.

Phenotype associated images not available

Human diseases caused by Hsd11b2 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.

The table below shows human diseases associated to Hsd11b2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Apparent Mineralocorticoid Excess
Nephrocalcinosis, Polydipsia, Renal insufficiency, Abnormality of circulating cortisol level, Dec... ORPHA:320
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating aldosterone level, Hypertension, Decreased circulating renin l... OMIM:218030

The table below shows human diseases predicted to be associated to Hsd11b2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Bartter Syndrome, Type 5, Antenatal, Transient
Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Hypochloremia, I... OMIM:300971
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... OMIM:617610
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Hyperaldosteronism, Decreased glomerular filtration rate, Renal... OMIM:613090
Polycystic Kidney Disease 7
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... OMIM:620056
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Polydipsia, Hypernatriuria, Hyperaldosteronism, Decreased glomerular filtration... OMIM:602522
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Nephrocalcinosis, Dilated cardiomyopathy, Hypomagnesemia, Reduced left ventricular ejection fract... OMIM:620152
Glomerulopathy With Fibronectin Deposits 2
Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis... OMIM:601894
Glomerulopathy With Fibronectin Deposits 1
Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency... OMIM:137950
Bartter Syndrome, Type 1, Antenatal
Hyperparathyroidism, Nephrocalcinosis, Hyperchloriduria, Increased serum prostaglandin E2, Renal ... OMIM:601678
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis, Hypophosphatemia, Hypercal... OMIM:616963
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia, Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Ren... ORPHA:54370
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i... OMIM:161900
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ... OMIM:602088
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Hypokalemia, Polyuria, Hyperactivity, ... OMIM:618314
Hyperaldosteronism, Familial, Type Iii
Polydipsia, Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Hypokalem... OMIM:613677
Nephronophthisis-Like Nephropathy 2
Polydipsia, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal ... OMIM:619468
Bartter Syndrome, Type 2, Antenatal
Nephrocalcinosis, Hyperchloriduria, Increased serum prostaglandin E2, Polydipsia, Renal juxtaglom... OMIM:241200
Hypercalcemia, Infantile, 1
Decreased circulating parathyroid hormone level, Nephrocalcinosis, Medullary nephrocalcinosis, Ne... OMIM:143880
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia, Polyuria, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus OMIM:222100
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria, Hypertension ORPHA:2820
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote... OMIM:603965
Bartter Syndrome Type 4
Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Hypomagnesemia, Hyperaldosteronism... ORPHA:89938
Nephronophthisis 1
Nephronophthisis, Polydipsia, Tubular basement membrane disintegration, Stage 5 chronic kidney di... OMIM:256100
Nail-Patella-Like Renal Disease
Renal insufficiency, Proteinuria, Hypertension, Glomerulopathy, Microscopic hematuria ORPHA:2613
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Hypotension, Abnorma... ORPHA:85445
Iga Nephropathy, Susceptibility To, 2
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematur... OMIM:613944
Nephronophthisis 16
Aortic valve stenosis, Nephronophthisis, Hypertrophic cardiomyopathy, Stage 5 chronic kidney dise... OMIM:615382
Liddle Syndrome
Nephropathy, Cerebral ischemia, Renal insufficiency, Hypokalemia, Arrhythmia, Hypertension ORPHA:526
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro... OMIM:616818
Bartter Syndrome, Type 3
Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Hypotension, Hyperaldosteronism, Increased uri... OMIM:607364
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypocalciuria, Enuresis, Polydipsia, Hypomagnesemia, Hyperaldosteronism, Renal sodium wasting, Hy... OMIM:612780
Diarrhea 1, Secretory Chloride, Congenital
Hyperaldosteronism, Elevated stool chloride content, Hypokalemia, Hyponatremia, Hyperactive renin... OMIM:214700
Senior-Loken Syndrome 4
Stage 5 chronic kidney disease, Nephronophthisis, Polydipsia, Polyuria OMIM:606996
Fibronectin Glomerulopathy
Hypoalbuminemia, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Hype... ORPHA:84090
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Hepatomegaly... OMIM:613496
Nephronophthisis 3
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, R... OMIM:604387
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hypertension, Mi... OMIM:613237
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Elevated circulating creatinine concentration, Abnormal glomerular mesangium... ORPHA:567544
Renal Glucosuria
Enuresis nocturna, Polydipsia, Glycosuria, Polyphagia, Polyuria OMIM:233100
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Hematuria, Hypertension OMIM:607832
Preeclampsia/Eclampsia 1
Proteinuria, Hypertension OMIM:189800
Hepatorenocardiac Degenerative Fibrosis
Hyperechogenic kidneys, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Reduced renal corticomed... OMIM:619902
Coproporphyria, Hereditary
Increased fecal coproporphyrin 3, Elevated urinary coproporphyrin level, Increased urinary porpho... OMIM:121300
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Stage 5 chronic kidn... OMIM:603278
Apparent Mineralocorticoid Excess
Nephrocalcinosis, Polydipsia, Renal insufficiency, Abnormality of circulating cortisol level, Dec... ORPHA:320
Trimethylaminuria
Tachycardia, Trimethylaminuria, Hypertension, Splenomegaly OMIM:602079
Nephronophthisis 9
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Polyuria, Renal cortical microcysts OMIM:613824
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Hypomagnesemia, Hyperechogenic kidneys, Hyperuricemia, Hyponatremia, Prot... OMIM:613845
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Renal salt wasting, Hyperkalemia, Abnormal circulating dehydroepiandrostero... ORPHA:90794
Iga Nephropathy, Susceptibility To, 1
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematur... OMIM:161950
Familial Hyperaldosteronism Type Iii
Epistaxis, Polydipsia, Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, Left ventric... ORPHA:251274
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Polydipsia, Elevated circulating parathyroid hormone level, Hyperphosphaturia, Spl... OMIM:239200
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Amyloidosis, Hereditary Systemic 2
Nephropathy, Renal amyloidosis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, Nephrotic syn... OMIM:105200
Aapoaiv Amyloidosis
Chronic kidney disease, Sinus bradycardia, Glomerular sclerosis, Left bundle branch block, Abnorm... ORPHA:439232
Gitelman Syndrome
Hypotension, Hypocalciuria, Enuresis, Renal magnesium wasting, Polydipsia, Hypomagnesemia, Palpit... OMIM:263800
Lessel-Kubisch Syndrome
Hypertension, Renal hypoplasia, Renal insufficiency, Hypogonadism OMIM:618681
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Splenomegaly, ... OMIM:263200
Hypomagnesemia 3, Renal
Chronic kidney disease, Hyperphosphatemia, Hematuria, Macroscopic hematuria, Abnormal circulating... OMIM:248250
Paternal Uniparental Disomy Of Chromosome 1
Proteinuria, Polyphagia, Hypertension, Delayed puberty, Increased blood urea nitrogen, Membranopr... ORPHA:251004
Hypocalcemia, Autosomal Dominant 1
Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Decreased glomerular filtration rate, Hypoca... OMIM:601198
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Elevated circulating creatinine concentration, Stage 5 chroni... OMIM:613095
Cystinosis
Nephropathy, Aminoaciduria, Type I diabetes mellitus, Polydipsia, Renal insufficiency, Portal hyp... ORPHA:213
Renal Dysplasia
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... ORPHA:93108
C3 Glomerulopathy
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Elevated... ORPHA:329918
Corticosteroid-Binding Globulin Deficiency
Hypotension, Hypokalemia, Decreased circulating cortisol level, Decreased urinary potassium, Hype... OMIM:611489
Cardiomyopathy, Familial Hypertrophic, 30, Atrial
Atrial flutter, Reduced left ventricular ejection fraction, Hypertension, Left atrial enlargement... OMIM:620734
Coronary Artery Disease, Autosomal Dominant, 1
Hypertension, Hypercholesterolemia, Myocardial infarction, Diabetes mellitus OMIM:608320
Pseudohypoaldosteronism, Type Iib
Pseudohypoaldosteronism, Hyperchloremia, Hyperkalemia, Hypertension OMIM:614491
Pseudohypoaldosteronism, Type Iid
Pseudohypoaldosteronism, Hyperchloremia, Hyperkalemia, Hypertension OMIM:614495
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Epistaxis, Polydipsia, Second degree atrioventricular block, Hyperaldost... ORPHA:369929
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Polydipsia, Glomerulomegaly, Recurrent urinary... ORPHA:93101
Adenine Phosphoribosyltransferase Deficiency
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... ORPHA:976
Senior-Loken Syndrome 1
Nephronophthisis, Polydipsia, Elevated circulating creatinine concentration, Stage 5 chronic kidn... OMIM:266900
Helix Syndrome
Hypermagnesemia, Hyperparathyroidism, Hypocalciuria, Polydipsia, Xerostomia, Renal insufficiency,... OMIM:617671
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Acute kid... ORPHA:567548
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Megacystis, Nephrogenic diabetes insipidus, Polyuria, Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Megacystis, Polyuria, Diabetes insipidus, Hypernatremia OMIM:304800
Saccharopinuria
Saccharopinuria, Histidinuria, Hyperlysinuria, Elevated urinary saccharopine level, Citrullinuria... OMIM:268700
Adrenocortical Carcinoma
Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre... ORPHA:1501
Preeclampsia
Chronic kidney disease, Elevated systolic blood pressure, Acute kidney injury, Type I diabetes me... ORPHA:275555
Pseudohypoaldosteronism, Type Iie
Pseudohypoaldosteronism, Hyperchloremia, Hyperkalemia, Hypertension OMIM:614496
Nephronophthisis 4
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubul... OMIM:606966
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypertension, Hypertriglyceri... OMIM:610947
Hyperprolinemia, Type I
Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Hyperprolinemia, Aggressive behavior, Hyperactivi... OMIM:239500
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemic rickets, Proteinuria,... OMIM:618913
East Syndrome
Polydipsia, Abnormal urinary electrolyte concentration, Renal magnesium wasting, Hypomagnesemia, ... ORPHA:199343
Hyperprolinemia Type 1
Hyperprolinemia, Nephropathy, Prolinuria, Proteinuria ORPHA:419
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Nephrolith... OMIM:615474
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Xanthelasma, Hyperlipid... OMIM:232200
Pseudohypoaldosteronism, Type Iic
Decreased circulating renin level, Pseudohypoaldosteronism, Hyperchloremia, Hyperkalemia, Hyperte... OMIM:614492
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Polydipsia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Nephrolithiasis, P... OMIM:617994
Primary Unilateral Adrenal Hyperplasia
Epistaxis, Polydipsia, Palpitations, Increased urinary potassium, Adrenal hyperplasia, Decreased ... ORPHA:231580
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Elevated circulating thyroid-stimulati... OMIM:618183
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Decreased glomerular fil... OMIM:232220
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Renal hypoplasia, Tubular basement membrane disintegration, H... OMIM:174000
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Enlarged kidney OMIM:615285
Liddle Syndrome 1
Renal insufficiency, Decreased circulating renin level, Hypokalemia, Decreased circulating aldost... OMIM:177200
Hyperaldosteronism, Familial, Type Ii
Hypokalemia, Hypertension, Hyperaldosteronism OMIM:605635
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Renal potassium ... ORPHA:564178
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Increased circulating cortisol level, Abnormal T-wave, Palpitations, Increased urinary... ORPHA:231625
Hyperprolinemia, Type Ii
Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Elevated urinary pyrroline hydroxycarboxylic acid... OMIM:239510
Fanconi Renotubular Syndrome 1
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... OMIM:134600
Arterial Calcification, Generalized, Of Infancy, 2
Nephrocalcinosis, Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regur... OMIM:614473
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Type I diabetes mellitus, Abnormal mitral valve morphology, Proteinuria, Nephrotic s... ORPHA:1192
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Hepatomegaly, Dysphag... OMIM:219800
Bardet-Biedl Syndrome 17
Polydipsia, Hypogonadism, Stage 5 chronic kidney disease, Situs inversus totalis, Renal cyst, Pol... OMIM:615994
Morbid Obesity And Spermatogenic Failure
Congestive heart failure, Decreased HDL cholesterol concentration, Increased LDL cholesterol conc... OMIM:615703
Familial Hyperaldosteronism Type I
Epistaxis, Polydipsia, Secretory adrenocortical adenoma, Adrenal hyperplasia, Dexamethasone-suppr... ORPHA:403
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Nephrocalcinosis, Hepatosplenomegaly, Distal renal tubular acidosis, Hypokalemia, Anorexia, Isoth... OMIM:611590
Renal Tubular Acidosis, Distal, 1
Nephrocalcinosis, Elevated circulating creatinine concentration, Distal renal tubular acidosis, H... OMIM:179800
Senior-Loken Syndrome
Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis, Hypertension ORPHA:3156
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Arrhythmia, Hepatomegaly, High palate, Polycystic kidney dysplasia, Renal dysplasia, Elevated cir... OMIM:608836
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Abnormal urinary electrolyte concentration, Hepatosplenomegaly, Intestinal obstructi... ORPHA:85450
Senior-Loken Syndrome 3
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyu... OMIM:606995
Meckel Syndrome, Type 8
Hyperechogenic kidneys, Pericardial effusion, Polycystic kidney dysplasia, Enlarged kidney, Cleft... OMIM:613885
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Gastroesophageal reflux, Renal artery stenosis... OMIM:617913
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Renal insufficiency, Hyperuricemia, Arrhythmia, Hypertension ORPHA:3222
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Polyphagia, Hypertriglyceridemia, Hypertension ORPHA:71529
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... ORPHA:97362
Senior-Boichis Syndrome
Chronic kidney disease, Renal hypoplasia, Polydipsia, Abnormal urinary electrolyte concentration,... ORPHA:84081
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Neonatal death, Hydronephrosis, Tracheoesophageal fistula, Urethra... OMIM:314390
Tyrosinemia, Type I
Hypermethioninemia, Nephrocalcinosis, Gastrointestinal hemorrhage, Elevated urinary succinylaceto... OMIM:276700
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Stage 5 chronic kidne... OMIM:612925
Juvenile Nephropathic Cystinosis
Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Hypophosphatemia, Aminoaciduria, P... ORPHA:411634
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Left ventricular hypertrophy, Abnormal renal corti... OMIM:616733
Ochoa Syndrome
Urethral obstruction, Polydipsia, Recurrent urinary tract infections, Vesicoureteral reflux, Rena... ORPHA:2704
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia, Nephrocalcinosis, Distal renal tubular acidosis, Hypercalciuria OMIM:602722
Dibasic Amino Aciduria I
Ornithinuria, Hyperlysinuria, Dibasicaminoaciduria, Argininuria OMIM:222690
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Ele... OMIM:604765
Denys-Drash Syndrome
Nephropathy, Nephroblastoma, Proteinuria, Nephrotic syndrome, Hypertension ORPHA:220
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Secundum atrial septal defect, Polydipsia... ORPHA:2260
Alport Syndrome 3A, Autosomal Dominant
Thickened glomerular basement membrane, Nephritis, Nephrocalcinosis, Glomerular basement membrane... OMIM:104200
Alagille Syndrome 2
Renal hypoplasia, Tetralogy of Fallot, Renal insufficiency, Renal tubular acidosis, Proteinuria, ... OMIM:610205
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hyperamylasemia, Bicarbonate-wasting renal tubular acidosis, Hypokalemia, Proximal renal tubular ... OMIM:604278
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612926
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Colonic diverticula, Renal insufficiency, Mitral regurgitation, Mitral valve prolapse, Hypertensi... OMIM:173900
Arima Syndrome
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, Pr... OMIM:243910
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Hypertrophic cardiomyopathy, Anorexia, Adrenal insufficiency, Hyperglycinemia, Hyp... OMIM:619386
Nephronophthisis 11
Nephronophthisis, Polydipsia, Tubular basement membrane disintegration, Stage 5 chronic kidney di... OMIM:613550
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating 18-hydroxycortisone level, Hyponatremia, Increased circulating corticostero... OMIM:610600
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Proteinuria, Hy... OMIM:123550
Nephronophthisis 18
Thickened glomerular basement membrane, Nephronophthisis, Stage 5 chronic kidney disease, Hyperte... OMIM:615862
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612924
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Elevated circulating creatinine concentration, Urolithiasis, Renal insufficiency, 2,8-d... OMIM:614723
Mercury Poisoning
Acute kidney injury, Hypotension, Hypokalemia, Anorexia, Tachycardia, Hypertension ORPHA:330021
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Elevated urinary dopamine level, Elevated urinary norepinephrine ... ORPHA:94080
Colchicine Poisoning
Hypotension, Oliguria, Cardiogenic shock, Hypomagnesemia, Congestive heart failure, Renal insuffi... ORPHA:31824
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia, Hypertension ORPHA:2111
Homozygous 11P15-P14 Deletion Syndrome
Abnormal intestine morphology, Generalized aminoaciduria, Hyperinsulinemia, Renal tubular dysfunc... OMIM:606528
Frasier Syndrome
Focal segmental glomerulosclerosis, Decreased serum estradiol, Streak ovary, Renal insufficiency,... ORPHA:347
Rhabdoid Tumor
Hematuria, Hypertension, Neoplasm of the liver, Internal hemorrhage, Renal neoplasm, Hypercalcemia ORPHA:69077
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Focal segmental glomerulosclerosis, Nephritis, Macroglossia, Congestive heart fa... OMIM:617303
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Proximal tubulopathy, Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentra... OMIM:241150
Cystinuria
Hyperlysinuria, Recurrent urinary tract infections, Renal insufficiency, Nephrolithiasis, Cystinu... OMIM:220100
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hypotension, Hyperaldosteronism, Hyponatremia, Pseudohypoaldosteronism, Renal salt wasting, Hyper... OMIM:264350
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Type I diabetes mellitus, Proximal tubulopathy, Polyuria OMIM:560000
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hypertrophic cardiomyopathy, Situs inversus totalis, Truncus arteriosus, P... OMIM:615415
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Premature adrenarche, Increased urinary 11-deoxycorticosterone level, Precocious puberty, Long pe... ORPHA:90795
Autosomal Recessive Polycystic Kidney Disease
Hepatosplenomegaly, Increased serum bile acid concentration, Hepatoblastoma, Polycystic kidney dy... ORPHA:731
Gracile Syndrome
Aminoaciduria, Increased circulating iron concentration, Increased serum pyruvate, Increased circ... OMIM:603358
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Anuria, Acute colitis, Elevated circulating creatinine concentration, Hypoka... ORPHA:90038
Late-Onset Familial Hypoaldosteronism
Hypotension, Renal sodium wasting, Hyponatremia, Decreased circulating aldosterone level, Elevate... ORPHA:556037
Multiple Endocrine Neoplasia, Type Iia
Thyroid C cell hyperplasia, Hyperparathyroidism, Elevated urinary dopamine level, Elevated urinar... OMIM:171400
Familial Hyperaldosteronism Type Ii
Epistaxis, Secretory adrenocortical adenoma, Adrenal hyperplasia, Hypokalemia, Abnormal circulati... ORPHA:404
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Enlarged kidney, Nephroblastoma OMIM:618272
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypospadias, Adrenal hyperplasia, Renal salt wasting, Elevated circulating 21-deoxycortisol conce... OMIM:201910
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Abnormal circulating calcium-phosphate regulating hormone concentration, Abnormali... ORPHA:417
Galactosemia Iii
Aminoaciduria, Galactosuria, Splenomegaly, Hepatomegaly, Hypergalactosemia OMIM:230350
Hypomagnesemia 2, Renal
Hypocalciuria, Renal magnesium wasting, Hypomagnesemia, Renal insufficiency, Hypokalemia OMIM:154020
Cholera
Hypovolemic shock, Acute kidney injury, Hypotension, Hypocalcemia, Hypokalemia, Hyponatremia, Dec... ORPHA:173
Narcolepsy Type 1
Precocious puberty, Restless legs, Attention deficit hyperactivity disorder, Syncope, Nocturia, R... ORPHA:2073
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Renal dysplasia, Intestinal malrotation, Stage 5 chronic kidney disease, R... OMIM:208540
Dent Disease 2
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig... OMIM:300555
Early-Onset Familial Hypoaldosteronism
Hypotension, Renal sodium wasting, Hyponatremia, Decreased circulating aldosterone level, Elevate... ORPHA:556030
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Xanthelasma, Tubulointerstitial fibrosis, Hepatomegaly, Ente... ORPHA:79259
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Hypotension, Cardiomyopathy, Congestive heart failure, Biventricular hypertrophy, H... OMIM:261740
Multicentric Carpotarsal Osteolysis Syndrome
Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Hypert... OMIM:166300
Potocki-Shaffer Syndrome
Nephroblastoma, Hypothyroidism, Delayed puberty, Micropenis, Hypertension ORPHA:52022
Ectopic Aldosterone-Producing Tumor
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Decreased circulating renin lev... ORPHA:231632
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2
Lacunar stroke, Transient ischemic attack, Hypertension OMIM:616779
Alport Syndrome 2, Autosomal Recessive
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag... OMIM:203780
Sneddon Syndrome
Nephropathy, Intracranial hemorrhage, Hypertension ORPHA:820
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Teratoma, Pineal
Polydipsia, Polyuria OMIM:273120
Pseudo-Torch Syndrome 3
Acute kidney injury, Increased circulating ferritin concentration, Proteinuria, Cardiomegaly, Cer... OMIM:618886
Renal Tubular Acidosis Iii
Hypokalemia, Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis OMIM:267200
Pheochromocytoma--Islet Cell Tumor Syndrome
Elevated urinary norepinephrine level, Congestive heart failure, Positive regitine blocking test,... OMIM:171420
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased circul... ORPHA:90793
Hypouricemia, Renal, 1
Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati... OMIM:220150
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged kidney, ... ORPHA:90301
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ... OMIM:194080
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Macroglossia, Congestive heart failure, Abnormal heart morphology, Heparan sulfa... ORPHA:505248
Gitelman Syndrome
Type II diabetes mellitus, Parathyroid adenoma, Urinary incontinence, Ventricular fibrillation, T... ORPHA:358
Posterior Urethral Valve
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... ORPHA:93110
Hyperaldosteronism, Familial, Type I
Abnormality of the urinary system, Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... OMIM:103900
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Genetic Recurrent Myoglobinuria
Acute kidney injury, Oliguria, Hyperphosphatemia, Exercise-induced myoglobinuria, Dark urine, Ren... ORPHA:99845
5-Oxoprolinase Deficiency
Calcium oxalate nephrolithiasis, Increased level of L-pyroglutamic acid in urine, Prolinuria, Ent... OMIM:260005
Fanconi-Bickel Syndrome
Hypouricemia, Generalized aminoaciduria, Ketonuria, Beta 2-microglobulinuria, Glycosuria, Hyperbi... OMIM:227810
Corticosterone Methyloxidase Type I Deficiency
Hypotension, Hyponatremia, Decreased circulating aldosterone level, Renal salt wasting, Hyperkale... OMIM:203400
Alport Syndrome
Focal segmental glomerulosclerosis, Nephritis, Thickened glomerular basement membrane, Glomerular... ORPHA:63
Muscular Dystrophy, Cardiac Type
Carnosinuria, Abnormal EKG, Cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:309930
Polyarteritis Nodosa
Cardiomyopathy, Abnormality of the gastrointestinal tract, Raynaud phenomenon, Abnormality of the... ORPHA:767
Heme Oxygenase 1 Deficiency
Nephritis, Diffuse alveolar hemorrhage, Epistaxis, Increased circulating ferritin concentration, ... OMIM:614034
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Protein-losing enteropathy, Hematochezia, Gastrointestinal carcinoma, Xerostomia, Hypomagnesemia,... OMIM:175500
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Ventricular septal defect, Aganglionic megacolon, Atrial septal defect, Micropenis, Tachycardia, ... OMIM:613870
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Decreased thyroid-stimulating hormone level, Hypokalemia, Increased circulating free T4 c... OMIM:613239
Stiff Skin Syndrome
Type II diabetes mellitus, Hypertension, Abnormal circulating lipid concentration, Nephrolithiasis ORPHA:2833
Proximal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Polydipsia, Glycosuria, Hypernatriuria, Low-molecular-weight pro... ORPHA:47159
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Polycy... OMIM:618061
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension OMIM:166990
Primary Fanconi Renotubular Syndrome
Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Decreased circulating carnitine co... ORPHA:3337
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Hypokalemia, Syncope, Ventricular arrhyth... ORPHA:101016
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Hypertension, Paraganglioma OMIM:618464
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Elevated urinary dopamine level, Elevated urinary norepinephrine ... ORPHA:276621
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Ischemic stroke, Cerebral ischemia, Hypertension, Stress urinary incon... ORPHA:136
Fabry Disease
Lipiduria, Congestive heart failure, Transient ischemic attack, Renal insufficiency, Proteinuria,... OMIM:301500
Porphyria Variegata
Chronic kidney disease, Increased urinary porphobilinogen, Abnormal circulating porphyrin concent... ORPHA:79473
Malignant Hyperthermia, Susceptibility To, 1
Hypotension, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Myoglobinuria... OMIM:145600
Infantile Nephropathic Cystinosis
Aminoaciduria, Polydipsia, Glycosuria, Low-molecular-weight proteinuria, Abnormality of thyroid p... ORPHA:411629
Tetanus
Elevated urinary norepinephrine level, Elevated circulating creatine kinase concentration, Hypert... ORPHA:3299
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Hypertriglyceridemia, Abnormal circulating hormone concentration, Hypertension,... ORPHA:280356
Lipodystrophy, Familial Partial, Type 5
Decreased adiponectin level, Hypertriglyceridemia, Hepatomegaly, Hypertension, Increased C-peptid... OMIM:615238
Leprechaunism
Megarectum, Nephrocalcinosis, Long penis, Central hypothyroidism, Hypertrophic cardiomyopathy, Hy... ORPHA:508
Caudal Regression Syndrome
Renal agenesis, Abnormality of the ureter, Renal insufficiency, Vesicoureteral reflux, Hypertensi... ORPHA:3027
Acute Intermittent Porphyria
Urinary retention, Pseudobulbar paralysis, Dark urine, Increased urinary porphobilinogen, Renal i... ORPHA:79276
Ethylene Glycol Poisoning
Hypotension, Congestive heart failure, Shock, Renal insufficiency, Hypocalcemia, Renal tubular dy... ORPHA:31826
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Polydipsia, Low-molecular-weight proteinur... ORPHA:18
Igg4-Related Kidney Disease
Chronic kidney disease, Arteritis, Urethritis, Hematuria, Abnormality of the anterior pituitary, ... ORPHA:449395
Birk-Landau-Perez Syndrome
Renal hypoplasia, Hyperechogenic kidneys, Stage 3 chronic kidney disease, Renal insufficiency, In... OMIM:617595
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Abnormal fear-induced behavior, Increased circulating ACTH level, Nephrolithia... OMIM:219090
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Left ventricular hypertrophy, Arrhythmia, Wolff-Parkinson-White syndrom... OMIM:540000
Igg4-Related Retroperitoneal Fibrosis
Acute kidney injury, Budd-Chiari syndrome, Elevated circulating creatinine concentration, Large v... ORPHA:49041
Methanol Poisoning
Type I diabetes mellitus, Inflammatory arteriopathy, Hyperlipidemia, Permanent atrial fibrillatio... ORPHA:31825
Eosinophilic Granulomatosis With Polyangiitis
Vasculitis, Gastroesophageal reflux, Recurrent intrapulmonary hemorrhage, Hypertrophic cardiomyop... ORPHA:183
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Thickened glomerular basement membrane, Recurrent urinary tract infections, Hype... OMIM:619487
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Elevate... OMIM:120330
Pseudohypoaldosteronism, Type Iia
Pseudohypoaldosteronism, Hyperkalemia, Hypertension OMIM:145260
Takayasu Arteritis
Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Ga... ORPHA:3287
Renal Agenesis
Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins... ORPHA:411709
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ve... OMIM:306955
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Myoglobinuria, Arrhythmia, Urinary incontinence, Tachycardia, Hyperkalemia, Dy... ORPHA:94093
Carbamoyl-Phosphate Synthetase 1 Deficiency
Hypoargininemia, Hyperammonemia, Aminoaciduria, Episodic ammonia intoxication ORPHA:147
Ganglioneuroma
Gastrointestinal hemorrhage, Functional intestinal obstruction, Abnormal rectum morphology, Hyper... ORPHA:251992
Pigmented Nodular Adrenocortical Disease, Primary, 1
Decreased circulating dehydroepiandrosterone concentration, Increased circulating cortisol level,... OMIM:610489
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Acute kidney injury, Hyperkalemia, Myoglobinuria, Elevated circulating creatine kinase concentration OMIM:268200
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Abnormal circulating aldosterone, Increased circulating ACTH level, Congenita... OMIM:614736
Amelogenesis Imperfecta, Type Ig
Nephrocalcinosis, Renal insufficiency, Impaired renal concentrating ability, Polyuria, Enuresis OMIM:204690
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating aldosterone level, Hypertension, Decreased circulating renin l... OMIM:218030
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Hyperphosphatemia, Hematuria, Glomerulonephritis, Tubulointerstitial neph... ORPHA:340
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Nephrolithiasis OMIM:222730
Liddle Syndrome 2
Hypokalemia, Decreased circulating aldosterone level, Hypertension, Decreased circulating renin l... OMIM:618114
Liddle Syndrome 3
Hypokalemia, Decreased circulating aldosterone level, Hypertension, Decreased circulating renin l... OMIM:618126
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma of head and neck, Elevated urinary dopamine level, Elevated urinary norepinephrine ... ORPHA:29072
Familial Glucocorticoid Deficiency
Precocious puberty, Hypotension, Decreased circulating dehydroepiandrosterone concentration, Impa... ORPHA:361
Rabson-Mendenhall Syndrome
Precocious puberty, Increased circulating androgen concentration, Nephrocalcinosis, Long penis, P... ORPHA:769
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Hypertension, Insulin-resistant diabetes mellitus, Hypertriglyceridemia OMIM:608600
Diaphanospondylodysostosis
Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Cleft palate, Enlarged kidney, Cystic re... OMIM:608022
Attrv30M Amyloidosis
Nephropathy, Atrioventricular block, Cardiomyopathy, Cardiomegaly, Arrhythmia, Abnormal renal phy... ORPHA:85447
Fabry Disease
Nephropathy, Mitral regurgitation, Hematuria, Arrhythmia, Achalasia, Anorexia, Nephrotic syndrome... ORPHA:324
Glycogen Storage Disease Ic
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Spider hemangioma, Decre... OMIM:232240
Camptodactyly-Taurinuria Syndrome
Aminoaciduria, Increased urinary taurine ORPHA:1325
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Adrenocortical cytomegaly, Renal cortic... OMIM:130650
Nephroblastoma
Hematuria, Neoplasm of the liver, Hypertension, Nephroblastoma ORPHA:654
Familial Hypoaldosteronism
Hypotension, Adrenal insufficiency, Hyponatremia, Hypovolemia, Decreased urinary potassium, Decre... ORPHA:427
Peripartum Cardiomyopathy
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... ORPHA:563
Coach Syndrome 1
Unilateral renal agenesis, Nephronophthisis, Multiple small medullary renal cysts, Stage 5 chroni... OMIM:216360
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart valve m... ORPHA:1345
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria OMIM:242550
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Palpitations, Hypokalemia, Hyperthyroidism, Tachycardia OMIM:188580
Pheochromocytoma
Elevated urinary norepinephrine level, Congestive heart failure, Positive regitine blocking test,... OMIM:171300
Tyrosinemia Type 1
Hepatomegaly, Generalized aminoaciduria, Splenomegaly, Hepatocellular carcinoma ORPHA:882
H Syndrome
Hypogonadism, Hepatosplenomegaly, Facial telangiectasia, Abnormal cardiovascular system physiolog... ORPHA:168569
Coach Syndrome 2
Elevated circulating creatinine concentration, Hypertension, Hyperechogenic kidneys OMIM:619111
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Congestive he... ORPHA:1830
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Congestive heart failure, Hypopituitarism, Ischemic stroke, Cerebral ischemia, ST segm... ORPHA:90065
Pseudohypoaldosteronism Type 2
Hyperkalemia, Hypertension ORPHA:757
Porphyria, Acute Intermittent
Urinary retention, Paralytic ileus, Hypertension, Urinary incontinence, Elevated urinary delta-am... OMIM:176000
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glome... ORPHA:567546
Glutaric Aciduria Iii
Glutaric aciduria, Hypertension, Hyperthyroidism, Goiter OMIM:231690
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Splenomegaly, Hyperammonemia, Pyloric stenosis ORPHA:664
Glutamate Formiminotransferase Deficiency
Aminoaciduria, Positive ferric chloride test, Elevated urinary formiminoglutamic acid level OMIM:229100
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperinsulinemia, Hyperactivity, Hypertriglyceridemia, Hepatomegaly, Hypertension ORPHA:363400
Mercaptolactate-Cysteine Disulfiduria
Aminoaciduria, High palate, High, narrow palate OMIM:249650
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Hyperinsulinemia, Hypertension, Diabetes mellitus ORPHA:79084
Galactose Epimerase Deficiency
Aminoaciduria, Hepatomegaly, Splenomegaly ORPHA:79238
Alport Syndrome 1, X-Linked
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag... OMIM:301050
Nelson Syndrome
Increased circulating cortisol level, Increased circulating prolactin concentration, Pituitary ca... ORPHA:199244
Stimmler Syndrome
Aminoaciduria, Type II diabetes mellitus ORPHA:3199
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hyperlipidemia, Incre... OMIM:235400
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Nephropathy, Gastrointestinal hemorrhage, Cardiomyopathy, Elevated circulating creatinine concent... ORPHA:247691
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Second degree atrioventricular block, Ventricular septal defect, Hematuria, Over... OMIM:617021
Osteootohepatoenteric Syndrome
Villous atrophy, Increased intestinal transit time, Increased serum bile acid concentration, Hypo... OMIM:619377
Meacham Syndrome
Hypoplastic left heart, Horseshoe kidney, Tetralogy of Fallot, Scimitar anomaly, Ventricular sept... OMIM:608978
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, Increased circulating an... OMIM:202010
Cirrhosis, Familial
Increased level of L-fucose in urine, Pulmonary arterial hypertension, Increased level of propyle... OMIM:215600
Acute Adrenal Insufficiency
Anorexia, Renal salt wasting, Hyperkalemia, Androgen insufficiency, Primary adrenal insufficiency... ORPHA:95409
Simple Cryoglobulinemia
Nephritis, Gastrointestinal hemorrhage, Vasculitis, Congestive heart failure, Abnormal heart morp... ORPHA:91139
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Hypotension, Elevated circulating creatinine concentration, Reduced left ven... ORPHA:542323
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Elevated circulating pa... OMIM:613388
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Hyperlipidemia, Elevated circulating creatine kinase co... OMIM:615980
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Hypotension, Decreased circulating carnitine co... ORPHA:159
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Increased serum py... ORPHA:1349
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased urina... ORPHA:189427
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Hamartoma of tongue, Intestinal malrotation, Bifid tongue, Micropenis, Anal atre... OMIM:613091
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Increased urinary cortisol level, Decreased circulating ACT... OMIM:615954
Diffuse Cutaneous Systemic Sclerosis
Hypertensive crisis, Oliguria, Xerostomia, Gastroesophageal reflux, Congestive heart failure, Ren... ORPHA:220393
Overlap Myositis
Abnormal circulating lipid concentration, Abnormal heart morphology, Elevated circulating creatin... ORPHA:206572
Infection-Related Hemolytic Uremic Syndrome
Hypertensive crisis, Acute kidney injury, Oliguria, Anuria, Gastrointestinal infarctions, Hypocal... ORPHA:544482
Glycogen Storage Disease Due To Aldolase A Deficiency
Acute kidney injury, Myoglobinuria, Arrhythmia, Hyperkalemia, Elevated creatine kinase after exer... ORPHA:57
Cardiogenic Shock
Impaired myocardial contractility, Hypotension, Oliguria, Right ventricular failure, Abnormal lef... ORPHA:97292
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephropathy, Aminoaciduria, Nephrocalcinosis, Glycosuria, Renal tubular acidosis, Ventricular sep... OMIM:613404
Hyperkalemic Periodic Paralysis
Congestive heart failure, Elevated circulating creatine kinase concentration, Hypokalemia, Hypona... ORPHA:682
Beta-Ketothiolase Deficiency
Hypotension, Ketonuria, Hyperammonemia, Oral aversion, Hyperuricemia, Anorexia, Hepatomegaly, Hyp... ORPHA:134
Melorheostosis With Osteopoikilosis
Hypertension ORPHA:1879
Lipodystrophy, Familial Partial, Type 4
Hypertension, Insulin-resistant diabetes mellitus, Hypertriglyceridemia OMIM:613877
Juvenile Polyposis Syndrome
Hypoalbuminemia, Hematochezia, Intussusception, Duodenal adenocarcinoma, Hypokalemia, Multiple ga... OMIM:174900
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hypotension, Hyperaldosteronism, Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620125
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria ORPHA:2278
Cocaine Intoxication
Hematuria, Glomerulonephritis, Tubulointerstitial nephritis, Tachycardia, Intestinal perforation,... ORPHA:90068
Galactosemia I
Increased level of galactitol in red blood cells, Aminoaciduria, Galactosuria, Increased level of... OMIM:230400
Pearson Syndrome
Hypophosphatemia, Hypoparathyroidism, Hepatomegaly, Dysphagia, Abnormal heart morphology, Decreas... ORPHA:699
Thiamine-Responsive Megaloblastic Anemia Syndrome
Aminoaciduria, Gastroesophageal reflux, Cardiomyopathy, Situs inversus totalis, Ventricular septa... OMIM:249270
Gaisböck Syndrome
Nephrocalcinosis, Peptic ulcer, Hypernatriuria, Elevated diastolic blood pressure, Hyperuricemia,... ORPHA:90041
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Moyamoya Disease 6 With Or Without Achalasia
Ischemic stroke, Hypertension, Achalasia, Raynaud phenomenon, Dysphagia OMIM:615750
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hypotension, Hyperaldosteronism, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-angiote... OMIM:177735
Hyperaldosteronism, Familial, Type Iv
Hyperaldosteronism, Elevated aldosterone:renin ratio, Hypertension OMIM:617027
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Second degree atrioventricular block, Urinary retention, Graves disease, Hy... ORPHA:79102
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Increased serum beta-hexosaminidase, Congestive heart failure, Hypertrophic... OMIM:252500
Kaposiform Lymphangiomatosis
Epistaxis, Hepatosplenomegaly, Splenomegaly, Multiple renal cysts, Pericardial effusion, Subconju... ORPHA:464329
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Beckwith-Wiedemann Syndrome
Nephropathy, Hepatoblastoma, Hepatomegaly, Visceromegaly, Hypertrophic cardiomyopathy, Adrenocort... ORPHA:116
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Congestive heart failure, Hypophosphatemic rickets, Renal artery stenosis... OMIM:208000
Scorpion Envenomation
Acute kidney injury, Cardiogenic shock, Ketonuria, Glycosuria, Prominent U wave, Congestive heart... ORPHA:466677
Cardiac-Urogenital Syndrome
Hypoplastic left heart, Coronary sinus enlargement, Biventricular hypertrophy, Tetralogy of Fallo... OMIM:618280
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Aminoaciduria, Nephrocalcinosis, Glycosuria, Hyperphosphaturia, Proteinuria, Hypoph... OMIM:616026
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hepatomegaly, Hypoplasia of the small intestine, Enlarged kidney, Cystic renal... OMIM:200995
Acquired Generalized Lipodystrophy
Cardiomyopathy, Abnormal circulating lipid concentration, Insulin-resistant diabetes mellitus, Hy... ORPHA:79086
Systemic Capillary Leak Syndrome
Hypotension, Oliguria, Renal insufficiency, Arrhythmia, Abnormal renal tubule morphology, Myocard... ORPHA:188
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Hypertension, Telangiectases producing 'marbled' skin OMIM:206570
Pituitary Adenoma 1, Multiple Types
Pituitary adenoma, Increased circulating prolactin concentration, Cardiomyopathy, Pituitary prola... OMIM:102200
Infant Botulism
Hypotension, Xerostomia, Hyponatremia, Hypertension, Anorexia, Cardiac arrest, Dysphagia ORPHA:178478
Alg9-Cdg
Bifid uvula, Hypoplasia of the bladder, Gastroesophageal reflux, Abnormal heart morphology, Tricu... ORPHA:79328
Dent Disease 1
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo... OMIM:300009
Riboflavin Transporter Deficiency
Hypogonadism, Aggressive behavior, Dysphagia, Diabetes insipidus, Hypertension ORPHA:97229
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Dicarboxylic aciduria, Myoglobinuria, Arrhythmia, Hepatomegaly, Tubulointerstitial nephritis, Pol... ORPHA:228308
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Colitis, Congenital hypothyroidism, Cardiomegaly ORPHA:88643
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Gastroesophageal reflux, Elevated circulating creatinine concentration, Glomerular sclerosis, Inc... OMIM:223900
Dent Disease
Renal hypophosphatemia, Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerul... ORPHA:1652
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Hypotension, Con... ORPHA:90791
Wagro Syndrome
Nephroblastoma, Proteinuria, Polyphagia, Aggressive behavior, Compulsive behaviors, Hypertension,... OMIM:612469
Renal Hypodysplasia/Aplasia 1
Proteinuria, Hypertension, Bilateral renal agenesis, Renal dysplasia OMIM:191830
Hypertension And Brachydactyly Syndrome
Hypertension OMIM:112410
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Neuroblastoma, Susceptibility To, 1
Elevated urinary dopamine level, Elevated urinary homovanillic acid, Elevated urinary vanillylman... OMIM:256700
Tako-Tsubo Cardiomyopathy
Abnormal circulating B-type natriuretic peptide concentration, Dilatation of the ventricular cavi... ORPHA:66529
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Decreased circulating iron concentration, Acute kidney injury, Pulmonary ... ORPHA:447
Lymphoid Interstitial Pneumonia
Hepatomegaly, Pulmonary venous hypertension, Raynaud phenomenon, Enlarged kidney ORPHA:79128
Helsmoortel-Van Der Aa Syndrome
Enuresis nocturna, High, narrow palate, Gastroesophageal reflux, Recurrent urinary tract infectio... OMIM:615873
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron... OMIM:613159
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Decreased circulating carnitine concentration, Gastroesophageal reflux, Dicarboxylic aciduria, Hy... OMIM:201475
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Elevated circulating creatinine concentration, Low-molecular-weight pr... OMIM:615605
Lipodystrophy, Familial Partial, Type 3
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceri... OMIM:604367
Pediatric-Onset Graves Disease
Polydipsia, Sinus tachycardia, Graves disease, Congestive heart failure, Goiter, Puberty and gona... ORPHA:525731
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi... OMIM:264800
Lead Poisoning
Chronic kidney disease, Anorexia, Decreased circulating osteocalcin level, Increased LDL choleste... ORPHA:330015
Cirrhotic Cardiomyopathy
Abnormal circulating B-type natriuretic peptide concentration, Arrhythmia, Elevated jugular venou... ORPHA:57777
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hypertension, Polycystic kidney dysplasia OMIM:600666
Multiple Endocrine Neoplasia Type 2
Abnormal tongue morphology, Elevated urinary vanillylmandelic acid, Elevated urinary catecholamin... ORPHA:653
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Gastroesophageal reflux, Recurrent hand flappi... ORPHA:449291
Duplication Of Urethra
Anuria, Recurrent urinary tract infections, Dysuria, Rectourethral fistula, Distal urethral dupli... ORPHA:237
Morgagni-Stewart-Morel Syndrome
Abnormality of the thyroid gland, Hyperuricemia, Hypothyroidism, Hypercholesterolemia, Abnormalit... ORPHA:77296
Addison Disease
Adrenal calcification, Anorexia, Hypoparathyroidism, Celiac disease, Renal salt wasting, Hyperkal... ORPHA:85138
Ogden Syndrome
Torsade de pointes, Hyperbilirubinemia, Ventricular septal defect, Bicuspid aortic valve, Arrhyth... OMIM:300855
3-Hydroxyisobutyric Aciduria
Aminoaciduria OMIM:236795
Vipoma
Follicular thyroid carcinoma, Pituitary adenoma, Increased circulating cortisol level, Abnormal g... ORPHA:97282
Galloway-Mowat Syndrome 3
Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria, Hiatus hernia, Diffuse mesangial sc... OMIM:617729
Pparg-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Congestive heart failure, Hypertrophic cardiomyopathy, Splen... ORPHA:79083
Arteriosclerosis, Severe Juvenile
Chronic kidney disease, Delayed puberty, Gastric ulcer, Hypertension, Myocardial infarction OMIM:208060
Seckel Syndrome 10
Ventricular hypertrophy, Elevated circulating luteinizing hormone level, Glycosuria, Congestive h... OMIM:617253
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal tubular resorption, Nephrocalcinosis, Dilated cardiomyopathy, Hypomagnesemia, Cong... ORPHA:73224
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Elevated circulating thyroid-stimulating hormone concentratio... OMIM:242900
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Type II diabete... OMIM:618620
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Adrenocortical adenoma, Mildly elevated creatine kinase ORPHA:681
Familial Dysautonomia
Gastroesophageal reflux, Renal insufficiency, Hyponatremia, Glomerulopathy, Orthostatic hypotensi... ORPHA:1764
Methylcobalamin Deficiency Type Cble
Hypomethioninemia, Glomerulopathy, Hyperhomocystinemia, Hypertension, Hemolytic-uremic syndrome ORPHA:2169
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Increased circulating cortisol level, Shortened QT interval, Pituitary... ORPHA:652
Microscopic Polyangiitis
Vasculitis, Gastrointestinal hemorrhage, Oliguria, Epistaxis, Congestive heart failure, Gastroint... ORPHA:727
Renal Tubular Dysgenesis
Renotubular dysgenesis, Hypotension, Abnormality of the urinary system, Anuria OMIM:267430
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Dilated cardiomyopathy, Third degree atrioventricular block, Biventricular hy... OMIM:619573
Carnitine Palmitoyltransferase I Deficiency
Ketonuria, Dicarboxylic aciduria, Renal tubular acidosis, Hyperammonemia, Elevated circulating cr... OMIM:255120
Fanconi-Bickel Syndrome
Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Glycosuria, Renal tubular acidosis, Hyp... ORPHA:2088
Sickle Cell Disease
Renal insufficiency, Splenomegaly, Hematuria, Cardiomegaly, Hepatomegaly, Hypertension OMIM:603903
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy, Hyperammonemia, 3-Methylglutaconic aciduria, Neonatal death, Hyperte... OMIM:614052
Hyperparathyroidism, Transient Neonatal
Hyperparathyroidism, Unilateral renal agenesis, Gastroesophageal reflux, Enlarged kidney OMIM:618188
Oculocerebrorenal Syndrome Of Lowe
Hematuria, Hypophosphatemia, Proximal renal tubular acidosis, Motor stereotypy, Aminoaciduria, Se... ORPHA:534
Pseudoxanthoma Elasticum
Nephrocalcinosis, Restrictive cardiomyopathy, Gastrointestinal hemorrhage, Mitral valve prolapse,... ORPHA:758
Primary Progressive Freezing Gait
Urinary incontinence, Restless legs, Dysphagia, Hypertension ORPHA:75567
Malignant Hyperthermia Of Anesthesia
Cardiomyocyte mitochondrial proliferation, Acute kidney injury, Hyperphosphatemia, Supraventricul... ORPHA:423
Hemochromatosis, Type 1
Increased circulating iron concentration, Cardiomyopathy, Increased circulating ferritin concentr... OMIM:235200
Developmental And Epileptic Encephalopathy 111
Hypoplastic left heart, Sinus tachycardia, Biventricular hypertrophy, Nephrolithiasis, Premature ... OMIM:620504
Lipodystrophy, Familial Partial, Type 7
Type I diabetes mellitus, Hypertension, Pulmonary arterial hypertension, Hypercholesterolemia, Or... OMIM:606721
Familial Cervical Artery Dissection
Transient ischemic attack, Cerebral ischemia, Subarachnoid hemorrhage, Recurrent cerebral hemorrh... ORPHA:36382
Zttk Syndrome
Aortic regurgitation, Unilateral renal agenesis, Bifid uvula, Horseshoe kidney, Submucous cleft h... OMIM:617140
Hardikar Syndrome
Hepatosplenomegaly, Hyperbilirubinemia, Cleft soft palate, Ventricular septal defect, Bilateral c... OMIM:301068
Tuberous Sclerosis Complex
Chronic kidney disease, Cardiac rhabdomyoma, Renal angiomyolipoma, Abnormality of the kidney, Par... ORPHA:805
Mucopolysaccharidosis, Type Iiib
Heparan sulfate excretion in urine, Splenomegaly, Cardiomegaly, Aggressive behavior, Hyperactivit... OMIM:252920
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Renal salt wasting, Increased circulating renin level OMIM:619406
Methionine Malabsorption Syndrome
Aminoaciduria, Positive ferric chloride test OMIM:250900
Endocrine-Cerebroosteodysplasia
Microphallus, Hyperechogenic kidneys, Median cleft palate, Adrenal hypoplasia, Hypospadias, Enlar... OMIM:612651
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria OMIM:204730
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephropathy, Aminoaciduria, Nephrocalcinosis, Reduced renal corticomedullary differentiation, Ren... OMIM:208085
Granulomatosis With Polyangiitis
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Ureteral stenosis, Cerebral ischemia, Renal i... ORPHA:900
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Aminoaciduria, Elevated circulating creatine kinase concentration OMIM:609560
Serotonin Syndrome
Hypotension, Acute kidney injury, Tachycardia, Restlessness, Hypertension, Agitation ORPHA:43116
Alagille Syndrome
Abnormality of the ureter, Ventricular septal defect, Renal hypoplasia/aplasia, Telangiectasia of... ORPHA:52
Osteopetrosis, Autosomal Recessive 9
Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperparathyroidis... OMIM:620366
Neuroblastoma
Elevated circulating catecholamine level, Elevated urinary homovanillic acid, Increased circulati... ORPHA:635
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Hypertension, Renal hypoplasia, Secundum atrial septal defect, Absence of renal corticomedullary ... OMIM:619758
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hyperparathyroidism, Nephrocalcinosis, Hyperphosphatemia, Decreased renal tubular phosphate excre... OMIM:211900
Refsum Disease, Classic
Cardiomyopathy, Congestive heart failure, Elevated circulating phytanic acid concentration, Cardi... OMIM:266500
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Aminoaciduria, Renal hypoplasia, 3-Methylglutaconic aciduria, Lacticaciduria, Hepatomegaly OMIM:604273
Postinfectious Vasculitis
Bacterial endocarditis, Cardiomyopathy, Elevated haptoglobin level, Cerebral vasculitis, Ischemic... ORPHA:48435
Alopecia Universalis
Type I diabetes mellitus, Abnormality of the thyroid gland, Hypertension, Abnormal circulating li... ORPHA:701
Grange Syndrome
Aortic regurgitation, Hypertension, Ventricular septal defect ORPHA:79094
Glutamate-Cysteine Ligase Deficiency
Aminoaciduria, Hepatosplenomegaly ORPHA:33574
Pheochromocytoma/Paraganglioma Syndrome 4
Chemodectoma, Palpitations, Hypertension associated with pheochromocytoma, Elevated urinary catec... OMIM:115310
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen... OMIM:618052
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Decreased response to growth hormone stimulation test, Ischemic stroke, D... ORPHA:280679
Marburg Hemorrhagic Fever
Hypoalbuminemia, Hypotension, Subconjunctival hemorrhage, Shock, Elevated circulating creatinine ... ORPHA:99826
Tsh-Secreting Pituitary Adenoma
Increased circulating prolactin concentration, Central adrenal insufficiency, Elevated circulatin... ORPHA:91347
Sepsis In Premature Infants
Hypotension, Oliguria, Functional abnormality of the gastrointestinal tract, Reversible renal fai... ORPHA:90051
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Elevated circulating luteinizing hormone level, Dilated cardiomyopathy, Reduced circulating growt... OMIM:300845
Generalized Pseudohypoaldosteronism Type 1
Hypovolemic shock, Abnormal circulating aldosterone, Glucocortocoid-insensitive primary hyperaldo... ORPHA:171876
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, Decreased ci... OMIM:610475
Moyamoya Disease With Early-Onset Achalasia
Hypertension, Raynaud phenomenon ORPHA:401945
Fragile X-Associated Tremor/Ataxia Syndrome
Hypotension, Urinary bladder sphincter dysfunction, Hypertension, Hypothyroidism, Dysphagia, Comp... ORPHA:93256
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level OMIM:620126
Alstrom Syndrome
Nephritis, Dilated cardiomyopathy, Insulin-resistant diabetes mellitus, Congestive heart failure,... OMIM:203800
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Aminoaciduria, Proximal tubulopathy OMIM:612075
Pseudohypoparathyroidism Type 1A
Pituitary resistance to thyroid hormone, Elevated circulating calcitonin concentration, Hyperphos... ORPHA:79443
Lujo Hemorrhagic Fever
Hypotension, Oliguria, Shock, Renal insufficiency, Bradycardia, Dysphagia, Myocarditis, Elevated ... ORPHA:319213
Von Hippel-Lindau Disease
Elevated circulating catecholamine level, Cardiomyopathy, Palpitations, Elevated urinary catechol... ORPHA:892
Encephalopathy Due To Sulfite Oxidase Deficiency
Aminoaciduria ORPHA:833
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart... ORPHA:3193
Lassa Fever
Shock, Oliguria, Dysphagia ORPHA:99824
Joubert Syndrome 14
Ventricular septal defect, Renal cyst, Intracranial hemorrhage, Hypertension, Cleft palate OMIM:614424
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating aldosterone level, Hypertension, Decreased circulating renin level OMIM:605115
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Elevated circulating luteinizing hormone level, Abnormal circulating choles... ORPHA:289548
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Elevated circulating luteinizing hormone level, Abnormal circulating choles... ORPHA:168558
Hemihyperplasia-Multiple Lipomatosis Syndrome
Telangiectasia of the skin, Enlarged kidney, Nephroblastoma ORPHA:276280
Sneddon Syndrome
Bicuspid aortic valve, Ischemic stroke, Hypertension, Cerebral hemorrhage OMIM:182410
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia, Hyperkalemia OMIM:141000
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Decreased circulating ACTH concentration, Macronodular adre... OMIM:219080
Andersen Cardiodysrhythmic Periodic Paralysis
Prominent U wave, Bidirectional ventricular ectopy, Palpitations, Hypokalemia, Syncope, Hyperthyr... OMIM:170390
X-Linked Hypohidrotic Ectodermal Dysplasia
Type I diabetes mellitus, Hypertension, Anterior hypopituitarism ORPHA:181
Mirage Syndrome
Gastroesophageal reflux, Microphallus, Recurrent urinary tract infections, Adrenal insufficiency,... OMIM:617053
Juvenile Paget Disease
Hypertension, Hyperuricemia ORPHA:2801
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Increased circulating ferritin concentration, Congestive heart failure, Decreased... ORPHA:465508
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Abnormal right ventricle morphology, Bifid ureter, Mitral valve pro... ORPHA:500095
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Pituitary Apoplexy
Hypotension, Pituitary adenoma, Increased circulating cortisol level, Increased circulating prola... ORPHA:95613
Glucocorticoid Resistance, Generalized
Increased circulating cortisol level, Increased circulating ACTH level, Increased circulating and... OMIM:615962
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Elevated circulating glutaric... OMIM:231680
Xfe Progeroid Syndrome
Hypoalbuminemia, Proteinuria, Renal insufficiency, Hypertension OMIM:610965
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Dilatation of the renal pelvis, Adrenal hyperplas... ORPHA:95699
Andersen-Tawil Syndrome
Renal hypoplasia, Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular... ORPHA:37553
Smith-Lemli-Opitz Syndrome
Ventricular septal defect, Atrial septal defect, Duplicated collecting system, Hepatomegaly, Vent... OMIM:270400
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Microphallus, Adrenal insufficiency, I... OMIM:201810
Abdominal Obesity-Metabolic Syndrome 3
Coronary artery stenosis, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyp... OMIM:615812
Crimean-Congo Hemorrhagic Fever
Retinal hemorrhage, Hematuria, Anorexia, Hepatomegaly, Tachycardia, Diffuse alveolar hemorrhage, ... ORPHA:99827
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Vasculitis, Type I diabetes mellitus, Dilated cardiomyopathy, Hepatosplenomegaly, Portal hyperten... OMIM:615688
Paroxysmal Hemicrania
Hypertension, Restless legs, Diabetes mellitus ORPHA:157835
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Ventricular septal defect, Hepatoblastoma, Arrhythmia, Atrial s... OMIM:312870
Fixed Subaortic Stenosis
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Abnormal heart morphology... ORPHA:3092
Congenitally Uncorrected Transposition Of The Great Arteries
Congestive heart failure, Biventricular hypertrophy, Dextrotransposition of the great arteries, A... ORPHA:860
Erythrocytosis, Familial, 1
Myocardial infarction, Hypertension, Splenomegaly, Cerebral hemorrhage OMIM:133100
Combined Oxidative Phosphorylation Deficiency 33
Cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricula... OMIM:617713
Spondyloenchondrodysplasia
Chronic kidney disease, Vasculitis, Decreased response to growth hormone stimulation test, Hematu... ORPHA:1855
Lysosomal Acid Lipase Deficiency
Hypotension, Hypernatriuria, Abnormal urine potassium concentration, Adrenal calcification, Hepat... ORPHA:275761
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Reduced left ventricular ejection fraction, Right bundle branch block, Elevated cir... ORPHA:268
Lysinuric Protein Intolerance
Increased LDL cholesterol concentration, Hepatosplenomegaly, Hyperglycinemia, Oral aversion, Glom... ORPHA:470
Cockayne Syndrome Type 1
Male hypogonadism, Renal insufficiency, Proteinuria, Increased blood urea nitrogen, Hepatomegaly,... ORPHA:90321
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension OMIM:616069
Werner Syndrome
Gastrointestinal carcinoma, Congestive heart failure, Hypogonadism, Thyroid carcinoma, Type II di... ORPHA:902
D-Glyceric Aciduria
Aminoaciduria, Gastroesophageal reflux, Tongue thrusting, Bradycardia, Micropenis, Elevated circu... OMIM:220120
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly, Pulmonary arterial hypertension, Hypertension OMIM:613320
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Hyperaldosteronism, Renal salt wasting, Adrenal insufficiency, Adrenocorticotropic hormone excess OMIM:613743
Familial Pseudohyperkalemia
Hyperkalemia, Hypertension ORPHA:90044
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Aminoaciduria, Methylmalonic aciduria, Elevated circulating creatine kinase concentration ORPHA:1933
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Pulmonary carcinoid tumor, Congestive heart failu... ORPHA:363618
Hypoadrenocorticism, Familial
Hyponatremia, Adrenal insufficiency, Hyperkalemia, Adrenal hypoplasia OMIM:240200
Williams-Beuren Syndrome
Obsessive-compulsive trait, Mitral valve prolapse, Ventricular septal defect, Mitral regurgitatio... OMIM:194050
Dermotrichic Syndrome
Aminoaciduria, Aganglionic megacolon ORPHA:99688
Williams Syndrome
Type II diabetes mellitus, Mitral regurgitation, Mitral valve prolapse, Ventricular septal defect... ORPHA:904
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Bidirectional shunt, Renal cortical hyperechogenicity, Microcolon, Anuria, Megacystis, Ileal atre... OMIM:619351
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,... ORPHA:2041
Acute Monoblastic/Monocytic Leukemia
Oliguria, Central hypothyroidism, Anorexia ORPHA:514