Gene: Wnk4 MGI:1917097

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

WNK lysine deficient protein kinase 4

Synonyms:

2010002J11Rik, Prkwnk4

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 Wnk4 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 Wnk4 (1 diseases)
Human diseases predicted to be associated with Wnk4 (1033 diseases)

The table below shows human diseases associated to Wnk4 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Pseudohypoaldosteronism, Type Iib		Hyperkalemia, Hypertension, Hyperchloremia, Hyperchloremic metabolic acidosis	OMIM:614491

The table below shows human diseases predicted to be associated to Wnk4 by phenotypic similarity.

Disease	Matching phenotypes	Source
Pseudohypoaldosteronism, Type Iic	Hyperkalemia, Hypertension, Hyperchloremic metabolic acidosis, Hyperchloremia, Metabolic acidosis	OMIM:614492
Pseudohypoaldosteronism, Type Iie	Hyperkalemia, Hypertension, Hyperchloremic metabolic acidosis, Hyperchloremia, Metabolic acidosis	OMIM:614496
Pseudohypoaldosteronism, Type Iib	Hyperkalemia, Hypertension, Hyperchloremia, Hyperchloremic metabolic acidosis	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperkalemia, Hypertension, Hyperchloremia, Hyperchloremic metabolic acidosis	OMIM:614495
Bartter Syndrome, Type 3	Renal salt wasting, Hyperactive renin-angiotensin system, Hypokalemia, Increased urinary potassiu...	OMIM:607364
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hypokalemia, Increased urinary potassium, Decreased glomerular filtration rate, Hyp...	OMIM:613090
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Abnormal magnesium concentration, Hypokalemia, Increased serum prostaglandin E2, Proximal tubulop...	OMIM:241150
Pseudohypoaldosteronism, Type Iia	Hyperkalemia, Hypertension, Hyperchloremic acidosis	OMIM:145260
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Hypokalemia, Hypochloremia, Medullary nephrocalcinosis, Increased circulating renin...	OMIM:300971
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hypokalemia, Increased urinary potassium, Decreased glomerular filtration rate, Tub...	OMIM:602522
Hypokalemic Tubulopathy And Deafness	Renal salt wasting, Increased circulating renin level, Acidosis, Hyperaldosteronism	OMIM:619406
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Nephrocalcinosis, Decreased glomerular filtration rate, Nephrolithiasis, Hypomagnese...	OMIM:601198
Malignant Hyperthermia, Susceptibility To, 1	Hyperkalemia, Myoglobinuria, Elevated circulating creatine kinase concentration, Tachycardia, Mix...	OMIM:145600
East Syndrome	Renal salt wasting, Metabolic alkalosis, Renal sodium wasting, Hypokalemia, Hypomagnesemia, Hyper...	ORPHA:199343
Corticosterone Methyloxidase Type Ii Deficiency	Hyperkalemia, Hyponatremia, Decreased circulating aldosterone level, Increased circulating cortic...	OMIM:610600
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Metabolic alkalosis, Hyperactive renin-angiotensin system, Hypokalemia, Hypochlorem...	OMIM:214700
Liddle Syndrome 3	Hypertension, Metabolic alkalosis, Hypokalemia	OMIM:618126
Bartter Syndrome, Type 1, Antenatal	Hypercalcemia, Hyperactive renin-angiotensin system, Renal juxtaglomerular cell hypertrophy/hyper...	OMIM:601678
Hypomagnesemia, Seizures, And Mental Retardation 2	Hypokalemia, Hypomagnesemia, Renal potassium wasting, Polyuria, Renal magnesium wasting	OMIM:618314
Glomerulopathy With Fibronectin Deposits 1	Hypertension, Nephrotic syndrome, Stage 5 chronic kidney disease, Acidosis, Microscopic hematuria...	OMIM:137950
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability	Episodic hypokalemia, Nephrocalcinosis, Hypomagnesemia, Renal potassium wasting, Renal magnesium ...	ORPHA:564178
Diabetes Insipidus, Neurohypophyseal, X-Linked	Hydronephrosis, Hypokalemia, Alkalosis, Central diabetes insipidus, Polyuria	OMIM:304900
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance	Renal salt wasting, Renal sodium wasting, Hypokalemia, Hypokalemic metabolic alkalosis, Hypomagne...	OMIM:612780
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Chronic kidney disease, Hyperuricemia, Hypomagnesemia, Proteinuria, Hyperechogenic ...	OMIM:613845
Liddle Syndrome 1	Metabolic alkalosis, Decreased circulating aldosterone level, Decreased circulating renin level, ...	OMIM:177200
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia, Hyperaldosteronism, Metaboli...	OMIM:613677
Hypertension, Essential	Elevated diastolic blood pressure, Elevated systolic blood pressure, Elevated mean arterial pressure	OMIM:145500
Pseudohypoaldosteronism, Type I, Autosomal Recessive	Hyperkalemia, Hyponatremia, Renal salt wasting, Metabolic acidosis, Hypotension	OMIM:264350
Corticosterone Methyloxidase Type I Deficiency	Hyperkalemia, Hyponatremia, Decreased circulating aldosterone level, Renal salt wasting, Increase...	OMIM:203400
Pseudohypoaldosteronism Type 2	Hyperkalemia, Hypertension	ORPHA:757
Hypomagnesemia 2, Renal	Hypokalemia, Hypomagnesemia, Hypocalciuria, Renal insufficiency, Renal magnesium wasting	OMIM:154020
Late-Onset Familial Hypoaldosteronism	Hyperkalemia, Hyponatremia, Decreased circulating aldosterone level, Renal sodium wasting, Elevat...	ORPHA:556037
Infantile Bartter Syndrome With Sensorineural Deafness	Hyponatremia, Hyperactive renin-angiotensin system, Hypokalemia, Nephrocalcinosis, Increased urin...	ORPHA:89938
Hypercalcemia, Infantile, 2	Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Renal phosphate wasting, Medullary nephrocalci...	OMIM:616963
Malignant Hyperthermia, Susceptibility To, 2	Hyperkalemia, Lactic acidosis, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154275
Nephronophthisis 2	Hyperkalemia, Hypertension, Pulmonary insufficiency, Chronic tubulointerstitial nephritis, Nephro...	OMIM:602088
Bartter Syndrome, Type 2, Antenatal	Hyperactive renin-angiotensin system, Renal juxtaglomerular cell hypertrophy/hyperplasia, Hypokal...	OMIM:241200
Early-Onset Familial Hypoaldosteronism	Hyperkalemia, Hyponatremia, Decreased circulating aldosterone level, Renal sodium wasting, Elevat...	ORPHA:556030
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyperkalemia, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hypera...	OMIM:177735
Hyperchlorhidrosis, Isolated	Hyperkalemia, Hyponatremia	OMIM:143860
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Congenital hypoparathyroidism, Hypocalcemic seizures, Parathyroid agenesis, Hypomagnesemia, Hypoc...	ORPHA:2239
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia, Hypertension, Myocardial infarction	OMIM:608320
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia, Ventricular arrhythmia	OMIM:141000
Malignant Hyperthermia, Susceptibility To, 3	Hyperkalemia, Lactic acidosis, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154276
Fanconi Renotubular Syndrome 1	Renal tubular dysfunction, Hypokalemia, Lacticaciduria, Hypophosphatemia, Glycosuria, Acidosis, A...	OMIM:134600
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Hyperkalemia, Acute kidney injury, Myoglobinuria, Elevated circulating creatine kinase concentration	OMIM:268200
Hyperaldosteronism, Familial, Type Ii	Hypertension, Hypokalemia	OMIM:605635
Familial Hypoaldosteronism	Hyperkalemia, Hyponatremia, Orthostatic hypotension, Decreased urinary potassium, Proximal renal ...	ORPHA:427
Renal Failure, Progressive, With Hypertension	Hypertension, Elevated circulating creatinine concentration, Nephritis, Stage 5 chronic kidney di...	OMIM:161900
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia	OMIM:609153
Pentosuria	Abnormality of circulating enzyme level, Abnormal urine carbohydrate level, Abnormal circulating ...	ORPHA:2843
Riboflavin Deficiency	Metabolic acidosis, Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration	OMIM:615026
Mitochondrial Complex I Deficiency, Nuclear Type 29	Hypertrophic cardiomyopathy, Increased serum lactate, Stage 5 chronic kidney disease, Hyperalanin...	OMIM:618250
Apparent Mineralocorticoid Excess	Decreased circulating aldosterone level, Decreased circulating renin level, Hypokalemia, Nephroca...	ORPHA:320
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypokalemia, Nephrocalcinosis, Metabolic acidosis, Hypercalciuria, Distal renal tubular acidosis	OMIM:602722
Hypoadrenocorticism, Familial	Hyperkalemia, Hyponatremia, Cyanosis	OMIM:240200
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyperkalemia, Hyponatremia, Renal salt wasting	OMIM:614736
Hypomagnesemia 3, Renal	Nephrocalcinosis, Renal tubular acidosis, Hematuria, Renal calcium wasting, Nephrolithiasis, Hypo...	OMIM:248250
Glomerulopathy With Fibronectin Deposits 2	Hypertension, Nephrotic syndrome, Renal cell carcinoma, Stage 5 chronic kidney disease, Microscop...	OMIM:601894
Hyperkalemic Periodic Paralysis	Hyperkalemia	OMIM:170500
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Ketoacidosis, Respiratory alkalosis, Increased serum lactate, Hyperammonemia, Hyperalaninemia, Me...	OMIM:615751
Type 1 Diabetes Mellitus	Polyuria, Decreased level of 1,5 anhydroglucitol in serum, Ketoacidosis, Diabetes mellitus	OMIM:222100
Primary Unilateral Adrenal Hyperplasia	Adrenal hyperplasia, Metabolic alkalosis, Decreased circulating renin level, Hypokalemia, Increas...	ORPHA:231580
Gitelman Syndrome	Hypokalemia, Hypokalemic alkalosis, Delayed puberty, Hypomagnesemia, Hypocalciuria, Renal potassi...	OMIM:263800
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Metabolic alkalosis, Neoplasm of the adrenal gland, Decreased circulating renin level, Hypokalemi...	ORPHA:231625
Liddle Syndrome	Nephropathy, Renal insufficiency, Hypokalemia	ORPHA:526
Liddle Syndrome 2	Hypokalemia, Hypertension, Decreased circulating renin level, Metabolic alkalosis	OMIM:618114
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Hypernatriuria, Decreased serum creatinine, Decreased circulating renin level	OMIM:300539
Familial Hyperaldosteronism Type Iii	Adrenal hyperplasia, Metabolic alkalosis, Hypokalemia, Abnormal circulating renin, Glucocortocoid...	ORPHA:251274
Iga Nephropathy, Susceptibility To, 3	Hypertension, IgA deposition in the glomerulus, Hematuria, Stage 5 chronic kidney disease, Mesang...	OMIM:616818
Nail-Patella-Like Renal Disease	Hypertension, Microscopic hematuria, Glomerulopathy, Proteinuria, Renal insufficiency	ORPHA:2613
Malignant Hyperthermia Of Anesthesia	Hyperkalemia, Premature ventricular contraction, Myoglobinuria, Ventricular tachycardia, Hypercap...	ORPHA:423
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Hyponatremia	ORPHA:3225
Primary Membranoproliferative Glomerulonephritis	Hypertension, Nephrotic syndrome, Stage 5 chronic kidney disease, Renal insufficiency, Myocardial...	ORPHA:54370
Iga Nephropathy, Susceptibility To, 2	Hypertension, IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney dise...	OMIM:613944
Fanconi-Bickel Syndrome	Hyperphosphaturia, Hypouricemia, Generalized aminoaciduria, Renal tubular dysfunction, Hypokalemi...	OMIM:227810
Focal Segmental Glomerulosclerosis 2	Hypertension, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney dise...	OMIM:603965
Apparent Mineralocorticoid Excess	Metabolic alkalosis, Decreased circulating renin level, Hypokalemia, Decreased circulating aldost...	OMIM:218030
Colchicine Poisoning	Hyponatremia, Hypokalemia, Hypophosphatemia, Abnormality of acid-base homeostasis, Hypomagnesemia...	ORPHA:31824
Hsd10 Disease, Neonatal Type	Metabolic acidosis, Lactic acidosis, Hypertrophic cardiomyopathy, Abnormal concentration of acylc...	ORPHA:391457
Generalized Pseudohypoaldosteronism Type 1	Hyperkalemia, Hyponatremia, Abnormal circulating aldosterone, Glucocortocoid-insensitive primary ...	ORPHA:171876
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Nephrocalcinosis, Renal calcium wasting, Nephrolithiasis, Recurrent urinary tract infections, Hyp...	OMIM:248190
Pyruvate Dehydrogenase Phosphatase Deficiency	Lacticaciduria, Increased serum lactate, Hyperalaninemia, Hyperprolinemia, Lactic acidosis	ORPHA:79246
Ectopic Aldosterone-Producing Tumor	Metabolic alkalosis, Decreased circulating renin level, Hypokalemia, Renal cortical adenoma, Gluc...	ORPHA:231632
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia, Arrhythmia	OMIM:616949
Hypomagnesemia 6, Renal	Hypomagnesemia	OMIM:613882
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Metabolic alkalosis, Hypokalemia, Abnormal circulating renin, Glucocortocoid...	ORPHA:404
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hyperchloremic metabolic acidosis, Hypokalemia, Nephrocalcinosis, Isothenuria, Metabolic acidosis...	OMIM:611590
Focal Segmental Glomerulosclerosis 5	Hypertension, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Microscopic hem...	OMIM:613237
Hypomagnesemia 1, Intestinal	Hypomagnesemia, Hypocalcemia	OMIM:602014
Glycogen Storage Disease Due To Aldolase A Deficiency	Hyperkalemia, Myoglobinuria, Elevated creatine kinase after exercise, Acute kidney injury, Arrhyt...	ORPHA:57
Tubular Renal Disease-Cardiomyopathy Syndrome	Hypocalcemic tetany, Nephrocalcinosis, Abnormal renal resorption, Hypokalemic metabolic alkalosis...	ORPHA:73224
Myopathy, Isolated Mitochondrial, Autosomal Dominant	Elevated circulating creatine kinase concentration, Increased serum lactate	OMIM:616209
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Polyuria, Periglom...	OMIM:619468
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hypertension, Focal segmental glomerulosclerosis, Hematuria, Proteinuria, Renal insufficiency	OMIM:607832
Tiglic Acidemia	Aminoaciduria, Acidosis	OMIM:275190
Hypomagnesemia, Seizures, And Mental Retardation 1	Hypomagnesemia	OMIM:616418
Hypomagnesemia 4, Renal	Hypomagnesemia	OMIM:611718
Familial Pseudohyperkalemia	Hyperkalemia, Hypertension	ORPHA:90044
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Renal dysplasia, Hypocalcemia, Hypomagnesemia, Hypertriglyceridemia, Hypothyroidism...	OMIM:618183
Genetic Recurrent Myoglobinuria	Hyperkalemia, Highly elevated creatine kinase, Exercise-induced myoglobinuria, Dark urine, Acute ...	ORPHA:99845
Ethylene Glycol Poisoning	Hyperkalemia, Hypertension, Shock, Renal tubular dysfunction, Decreased urine output, Prolonged Q...	ORPHA:31826
Mitochondrial Complex I Deficiency, Nuclear Type 35	Lacticaciduria, Elevated urinary 4-hydroxybutyric acid, Elevated lactate:pyruvate ratio, Pulmonar...	OMIM:619003
Fibronectin Glomerulopathy	Cerebral hemorrhage, Hypertension, Abnormal glomerular mesangium morphology, Nephrotic syndrome, ...	ORPHA:84090
Spastic Paraplegia-Nephritis-Deafness Syndrome	Hypertension, Proteinuria, Nephropathy	ORPHA:2820
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia	Hypomagnesemia, Hypermagnesiuria	ORPHA:34527
Hyperaldosteronism, Familial, Type Iv	Hypertension	OMIM:617027
Hydroxykynureninuria	Renal tubular dysfunction, Tachycardia, Metabolic acidosis, Aminoaciduria, Hypotension	OMIM:236800
Renal Tubular Acidosis Iii	Nephrolithiasis, Bicarbonate-wasting renal tubular acidosis, Hypokalemia, Nephrocalcinosis	OMIM:267200
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hypospadias, Hyponatremia, Hyperkalemia, Increased serum testosterone level, Decreased circulatin...	ORPHA:90791
Focal Segmental Glomerulosclerosis 1	Hypertension, Focal segmental glomerulosclerosis, Hyperlipidemia, Stage 5 chronic kidney disease,...	OMIM:603278
Hyperphosphatemia, Polyuria, And Seizures	Polyuria, Hyperphosphatemia	OMIM:239350
Birk-Landau-Perez Syndrome	Hyperkalemia, Hyperechogenic kidneys, Tubulointerstitial nephritis, Renal insufficiency	OMIM:617595
Hypercalcemia, Infantile, 1	Nephrocalcinosis, Nephrolithiasis, Infantile hypercalcemia, Hypercalciuria, Polyuria	OMIM:143880
Gracile Syndrome	Increased serum iron, Chronic lactic acidosis, Increased circulating ferritin concentration, Incr...	OMIM:603358
Juvenile Nephropathic Cystinosis	Hypophosphatemia, Microscopic hematuria, Metabolic acidosis, Chronic kidney disease, Hyponatremia...	ORPHA:411634
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia	OMIM:170400
Acute Adrenal Insufficiency	Hyperkalemia, Hypercalcemia, Hyponatremia, Androgen insufficiency, Decreased circulating aldoster...	ORPHA:95409
Mitochondrial Complex I Deficiency, Nuclear Type 24	Increased serum lactate	OMIM:618245
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Metabolic alkalosis, Decreased circulating renin level, Nephrolithiasis, Hypokalemia	OMIM:615474
Adrenocortical Carcinoma	Adrenocortical carcinoma, Increased urinary cortisol level, Increased circulating androstenedione...	ORPHA:1501
Hypocalciuric Hypercalcemia, Familial, Type I	Hypercalcemia, Nephrolithiasis, Hypocalciuria, Hyperparathyroidism, Hypermagnesemia, Hypercalciur...	OMIM:145980
Primary Fanconi Renotubular Syndrome	Hypouricemia, Generalized aminoaciduria, Renal sodium wasting, Hypokalemia, Increased urinary pot...	ORPHA:3337
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome	Metabolic acidosis, Hyperalaninemia	ORPHA:2597
Cystinosis	Renal tubular dysfunction, Hypokalemia, Hypophosphatemia, Nephrogenic diabetes insipidus, Type I ...	ORPHA:213
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia	OMIM:613345
Mitochondrial Complex Ii Deficiency, Nuclear Type 4	Increased serum pyruvate, Increased serum lactate, Increased urine alpha-ketoglutarate concentration	OMIM:619224
Hyperkalemic Periodic Paralysis	Hyperkalemia, Hyponatremia, Hypokalemia, Elevated circulating creatine kinase concentration, Cong...	ORPHA:682
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Nephrolithi...	OMIM:145981
Fanconi Renotubular Syndrome 5	Hypertension, Hyperchloremic metabolic acidosis, Tubulointerstitial fibrosis, Hypophosphatemia, S...	OMIM:618913
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Decreased circulating renin level, Abnormality of the urinary system, Adreno...	OMIM:103900
Preeclampsia/Eclampsia 1	Hypertension, Proteinuria	OMIM:189800
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3	Hypertrophic cardiomyopathy, 3-Methylglutaconic aciduria, Lactic acidosis	OMIM:614053
Helix Syndrome	Hypokalemia, Nephrolithiasis, Hypocalciuria, Hyperparathyroidism, Hypermagnesemia, Polyuria, Rena...	OMIM:617671
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant	Hypertrophic cardiomyopathy, Lactic acidosis, Organic aciduria	OMIM:617184
Iga Nephropathy, Susceptibility To, 1	Hypertension, IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney dise...	OMIM:161950
Intracranial Hypertension, Idiopathic	Hypertension	OMIM:243200
Coronary Artery Disease, Autosomal Dominant 2	Hypertension, Hyperlipidemia, Hypercholesterolemia, Myocardial infarction, Hypertriglyceridemia, ...	OMIM:610947
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Increased circulating progesterone, Increased serum testosterone level, Hyperactive renin-angiote...	ORPHA:90794
Neuroleptic Malignant Syndrome	Hyperkalemia, Hyponatremia, Hypertension, Myoglobinuria, Hypernatremia, Elevated circulating crea...	ORPHA:94093
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Adrenal hyperplasia, Metabolic alkalosis, Hypokalemia, Abnormal circulating renin, Nephrolithiasi...	ORPHA:369929
Malignant Hyperthermia, Susceptibility To, 4	Acidosis	OMIM:600467
Congenital Pulmonary Veins Atresia Or Stenosis	Hypertension	ORPHA:3188
Abdominal Obesity-Metabolic Syndrome 1	Hypertension	OMIM:605552
Infantile Nephropathic Cystinosis	Renal Fanconi syndrome, Hyperphosphaturia, Renal tubular dysfunction, Hyperchloremic metabolic ac...	ORPHA:411629
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Hypertension	OMIM:605572
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Elevated circulating follicle stimulating hormone level, Midshaft hypospadias, Urogenital sinus a...	ORPHA:289548
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Elevated circulating follicle stimulating hormone level, Midshaft hypospadias, Urogenital sinus a...	ORPHA:168558
Hawkinsinuria	Abnormal circulating tyrosine concentration, Metabolic acidosis, 4-Hydroxyphenylpyruvic aciduria,...	ORPHA:2118
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A	Urinary incontinence, Urinary urgency, Hypotension	OMIM:156310
Coenzyme Q10 Deficiency, Primary, 3	Proteinuria, Increased serum lactate, Nephrotic syndrome	OMIM:614652
3-Hydroxyisobutyric Aciduria	Episodic ketoacidosis, Aminoaciduria, Lactic acidosis, Ketoacidosis	OMIM:236795
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Increased serum testosterone level, Increased circulating androstenedione concentration, Hypokale...	ORPHA:90795
Arterial Calcification, Generalized, Of Infancy, 2	Hypertension, Nephrocalcinosis, Myocardial infarction, Congestive heart failure, Hypophosphatemic...	OMIM:614473
Idiopathic Non-Lupus Full-House Nephropathy	Hypertension, Abnormal glomerular mesangium morphology, Nephrotic syndrome, Elevated circulating ...	ORPHA:567544
Mitochondrial Complex Iv Deficiency, Nuclear Type 18	Increased serum pyruvate, Increased serum lactate	OMIM:619062
Combined Oxidative Phosphorylation Deficiency 10	Hypertrophic cardiomyopathy, Increased serum lactate, Hyperalaninemia, Metabolic acidosis, Lactic...	OMIM:614702
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypercalcemia, Multiple small medullary renal cysts, Hypophosphatemia, Parathormone-independent i...	OMIM:600740
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, Secretory adrenocortical adenoma, D...	ORPHA:403
Combined Oxidative Phosphorylation Deficiency 52	Hypertrophic cardiomyopathy, Hyperamylasemia, Lacticaciduria, Elevated circulating creatine kinas...	OMIM:619386
Sulfide:Quinone Oxidoreductase Deficiency	Elevated circulating creatine kinase concentration, Lactic acidosis	OMIM:619221
Addison Disease	Hyperkalemia, Hypercalcemia, Hyponatremia, Androgen insufficiency, Decreased circulating aldoster...	ORPHA:85138
Senior-Loken Syndrome 1	Nephronophthisis, Polyuria, Stage 5 chronic kidney disease	OMIM:266900
Oxoglutarate Dehydrogenase Deficiency	Metabolic acidosis, Congenital lactic acidosis, Increased serum lactate	OMIM:203740
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hyperkalemia	OMIM:608885
Distal Renal Tubular Acidosis	Hyperphosphaturia, Aminoaciduria, Hypokalemia, Nephrocalcinosis, Hyperchloremic metabolic acidosi...	ORPHA:18
Combined Oxidative Phosphorylation Deficiency 16	Hypertrophic cardiomyopathy, Increased serum lactate	OMIM:615395
Combined Oxidative Phosphorylation Deficiency 44	Hypertrophic cardiomyopathy, Increased serum lactate	OMIM:618855
Cirrhosis, Familial	Hypertension, Pulmonary arterial hypertension, Increased level of L-fucose in urine, Increased le...	OMIM:215600
Cholera	Abnormality of renal excretion, Hyponatremia, Decreased urine output, Hypokalemia, Acute kidney i...	ORPHA:173
Hyperparathyroidism, Neonatal Severe	Elevated circulating parathyroid hormone level, Hypercalcemia, Hyperphosphaturia, Calcinosis, Ami...	OMIM:239200
Acetyl-Coa Acetyltransferase-2 Deficiency	Increased serum pyruvate, Increased serum lactate	OMIM:614055
Short Chain Acyl-Coa Dehydrogenase Deficiency	Ethylmalonic aciduria, Cardiomyopathy, Elevated circulating acylcarnitine concentration, Increase...	ORPHA:26792
Trimethylaminuria	Trimethylaminuria, Hypertension, Tachycardia	OMIM:602079
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Decreased plasma free carnitine, Increased serum lactate, Bradycardia, Hyperalaninemia, Congestiv...	OMIM:619048
Renal Glucosuria	Polyuria, Enuresis nocturna, Glycosuria	OMIM:233100
Maternally-Inherited Diabetes And Deafness	Hypertrophic cardiomyopathy, Hypertension, Abnormal circulating lipid concentration, Congestive h...	ORPHA:225
Pituitary Adenoma 4, Acth-Secreting	Hypokalemia, Nephrolithiasis, Pituitary adenoma, Alkalosis, Increased circulating ACTH level	OMIM:219090
Galactosemia I	Hypergalactosemia, Aminoaciduria, Hyperchloremic metabolic acidosis, Increased level of galactito...	OMIM:230400
Gitelman Syndrome	Tubulointerstitial nephritis, Renal potassium wasting, Type I diabetes mellitus, Enuresis, Parath...	ORPHA:358
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Hypospadias, Increased circulating progesterone, Elevated circulating follicle stimulating hormon...	ORPHA:90793
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Ketoacidosis, Episodic ketoacidosis, Increased serum lactate, Hyperammonemia, Lactic acidosis	OMIM:615453
Congenital Isolated Acth Deficiency	Hyponatremia, Hypotension	ORPHA:199296
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy...	OMIM:308990
Idiopathic Steroid-Resistant Nephrotic Syndrome	Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Abnormal circ...	ORPHA:567548
Senior-Loken Syndrome 4	Nephronophthisis, Polyuria, Stage 5 chronic kidney disease	OMIM:606996
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies	Renal cortical hyperechogenicity, Renal hypoplasia, Medullary nephrocalcinosis, Reduced renal cor...	OMIM:611555
Preeclampsia	Hypertension, Elevated diastolic blood pressure, Elevated circulating creatinine concentration, E...	ORPHA:275555
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Hypertrophic cardiomyopathy, Low-output congestive heart failure, Increased serum lactate, Cyanos...	ORPHA:91130
Combined Oxidative Phosphorylation Deficiency 31	Hypertrophic cardiomyopathy, Lactic acidosis, Increased serum lactate, Hyperalaninemia	OMIM:617228
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Megacystis, Polyuria, Nephrogenic diabetes insipidus, Hypernatremia	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Megacystis, Polyuria, Diabetes insipidus, Hypernatremia	OMIM:304800
Thyrotoxic Periodic Paralysis	Hyperkalemia, Thyrotoxicosis with toxic single thyroid nodule, Episodic hypokalemia, Urinary rete...	ORPHA:79102
Methylmalonyl-Coa Epimerase Deficiency	Metabolic acidosis, Methylmalonic acidemia, Methylmalonic aciduria, Ketonuria	OMIM:251120
Morbid Obesity And Spermatogenic Failure	Hypertension, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, H...	OMIM:615703
Necrotizing Enterocolitis	Shock, Hyponatremia, Increased serum lactate, Bradycardia, Metabolic acidosis, Acidosis, Hypotension	ORPHA:391673
Isolated Glycerol Kinase Deficiency	Elevated circulating creatine kinase concentration, Metabolic acidosis	ORPHA:408
Snakebite Envenomation	Hyponatremia, Intracranial hemorrhage, Epistaxis, Tachycardia, Cerebral ischemia, Cardiogenic sho...	ORPHA:449285
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Metabolic acidosis, Increased serum lactate	OMIM:615158
Familial Glucocorticoid Deficiency	Hyperkalemia, Hyponatremia, Hypertrophic cardiomyopathy, Recurrent urinary tract infections, Rena...	ORPHA:361
Familial Hypocalciuric Hypercalcemia	Hypercalcemia, Hypocalcemic seizures, Hypomagnesiuria, Parathormone-independent increased renal t...	ORPHA:405
Blue Diaper Syndrome	Hypercalcemia, Nephrocalcinosis, Metabolic acidosis, Hyperphosphatemia, Blue urine	ORPHA:94086
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Dilated cardiomyopathy, Ketoacidosis, Elevated circulating creatine kinase concentration, Hyperam...	OMIM:618120
Hypokalemic Periodic Paralysis	Adrenocortical adenoma, Mildly elevated creatine kinase, Episodic hypokalemia	ORPHA:681
Exercise-Induced Malignant Hyperthermia	Hyperkalemia, Abnormal T-wave, Prolonged QT interval, Elevated circulating creatine kinase concen...	ORPHA:466650
Romano-Ward Syndrome	Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Hypokalemia, Torsade de poin...	ORPHA:101016
Combined Oxidative Phosphorylation Deficiency 24	Elevated circulating creatine kinase concentration, Metabolic alkalosis, Focal segmental glomerul...	OMIM:616239
Mitochondrial Pyruvate Carrier Deficiency	Increased serum pyruvate, Lactic acidosis, Increased serum lactate, Organic aciduria	OMIM:614741
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Increased serum lactate, Hyperalaninemia, Hyperammonemia, Elevated circulating sebacic acid conce...	OMIM:615160
Autosomal Dominant Hypocalcemia	Nephrocalcinosis, Hypomagnesemia, Hypocalcemia, Hypermagnesiuria, Hypercalciuria, Hyperphosphatemia	ORPHA:428
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypomagnesemia, Hypokalemia, Hypocalcemia	OMIM:175500
Hypophosphatemia, Renal, With Intracerebral Calcifications	Renal phosphate wasting, Renal hypophosphatemia	OMIM:241519
Uremic Pruritus	Hypercalcemia, Stage 5 chronic kidney disease, Increased blood urea nitrogen, Renal hypophosphate...	ORPHA:94059
Glycogen Storage Disease Xi	Myoglobinuria, Elevated circulating creatine kinase concentration, Increased serum lactate, Incre...	OMIM:612933
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hyperthyroidism, Goiter, Hypokalemia	OMIM:188580
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hyperthyroidism, Goiter, Hypokalemia	OMIM:613239
Combined Oxidative Phosphorylation Deficiency 9	Hypertrophic cardiomyopathy, Tubulointerstitial nephritis, Ketoacidosis, Elevated lactate:pyruvat...	OMIM:614582
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Aminoaciduria, Hypokalemia, Nephrocalcinosis, Bicarbonate-wasting renal tubula...	ORPHA:47159
Generalized Glucocorticoid Resistance Syndrome	Adrenal hyperplasia, Metabolic alkalosis, Increased urinary cortisol level, Decreased circulating...	ORPHA:786
Isovaleric Acidemia	Metabolic acidosis	ORPHA:33
Hemorrhagic Fever-Renal Syndrome	Tubulointerstitial nephritis, Decreased glomerular filtration rate, Melena, Chronic kidney diseas...	ORPHA:340
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hyponatremia, Hypotension	ORPHA:91354
Pearson Syndrome	Adrenal insufficiency, Hypoparathyroidism, Hypokalemia, Lacticaciduria, Decreased response to gro...	ORPHA:699
Refractory Celiac Disease	Hypoproteinemia, Hypoalbuminemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia	ORPHA:398063
Kenny-Caffey Syndrome, Type 1	Hypomagnesemia, Congenital hypoparathyroidism, Hypocalcemia	OMIM:244460
Combined Oxidative Phosphorylation Deficiency 28	Congestive heart failure, Increased serum pyruvate, Increased serum lactate, Severe lactic acidosis	OMIM:616794
C3 Glomerulopathy	Hypertension, Nephrotic syndrome, Elevated circulating creatinine concentration, Hematuria, Stage...	ORPHA:329918
Acute Peripheral Arterial Occlusion	Absent ankle pulse, Supraventricular tachycardia, Myocardial infarction, Abnormality of venous ph...	ORPHA:90064
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Respiratory alkalosis, Hypoargininemia, Low plasma citrulline, Hyperammonemia, Episodic ammonia i...	OMIM:237300
Long Qt Syndrome 13	Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc...	OMIM:613485
Denys-Drash Syndrome	Hypertension, Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma	ORPHA:220
Amyloidosis, Familial Visceral	Hypertension, Nephrotic syndrome, Hematuria, Nephropathy, Proteinuria	OMIM:105200
Cardiogenic Shock	Right ventricular failure, Hypoxemia, Mitral regurgitation, Low pulse pressure, Elevated circulat...	ORPHA:97292
Nephronophthisis 1	Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst...	OMIM:256100
Mitochondrial Complex I Deficiency, Nuclear Type 32	Metabolic acidosis, Increased serum lactate	OMIM:618252
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hypospadias, Hypertrophic cardiomyopathy, Increased serum lactate, Hyperammonemia, 3-Methylglutac...	OMIM:604273
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Aminoaciduria, Acidosis	OMIM:204730
Apnea, Central Sleep	Cyanosis, Urinary incontinence, Lactic acidosis	OMIM:207720
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Respiratory alkalosis, Hyperglutaminemia, Episodic ammonia intoxication, Hyperammonemia, Low plas...	OMIM:311250
Cryoglobulinemia, Familial Mixed	Hypertension, Abnormal renal physiology, Hematuria, Elevated circulating creatinine concentration...	OMIM:123550
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hypertension	OMIM:166990
Multiple Mitochondrial Dysfunctions Syndrome 1	Hypertension, Lactic acidosis, Pulmonary arterial hypertension	OMIM:605711
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome	Decreased circulating ferritin concentration, Lactic acidosis	ORPHA:330054
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Decreased circulating aldosterone level, Increased serum testosterone level, Increased circulatin...	OMIM:202010
Combined Oxidative Phosphorylation Deficiency 30	Lactic acidosis, Increased serum lactate, Hyperalaninemia	OMIM:616974
Developmental And Epileptic Encephalopathy 53	Elevated circulating creatine kinase concentration, Increased serum lactate	OMIM:617389
Citrullinemia Type I	Elevated plasma citrulline, Respiratory alkalosis, Hyperammonemia	ORPHA:247525
Pyruvate Carboxylase Deficiency	Increased serum lactate, Proximal renal tubular acidosis, Hyperalaninemia, Increased serum pyruva...	OMIM:266150
2P21 Microdeletion Syndrome	Lactic acidosis, Nephrolithiasis, Cystinuria, Hypocalcemia	ORPHA:163693
Pyruvate Dehydrogenase E1-Beta Deficiency	Lactic acidosis, Hyperammonemia	OMIM:614111
Pheochromocytoma--Islet Cell Tumor Syndrome	Episodic hypertension, Hypercalcemia, Cerebral hemorrhage, Tachycardia, Elevated urinary norepine...	OMIM:171420
Citrullinemia, Classic	Oroticaciduria, Respiratory alkalosis, Hyperglutaminemia, Hypoargininemia, Hyperammonemia, Episod...	OMIM:215700
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Elevated circulating creatine kinase concentration, Lactic acidosis, Increased serum lactate, Hyp...	OMIM:618416
Lipodystrophy, Familial Partial, Type 4	Hypertension, Hypertriglyceridemia	OMIM:613877
Combined Oxidative Phosphorylation Deficiency 23	Increased serum lactate, Cardiomyopathy, Congestive heart failure, Lactic acidosis, Arrhythmia	OMIM:616198
Combined Oxidative Phosphorylation Deficiency 33	Nephrotic syndrome, Elevated circulating creatine kinase concentration, Cardiomyopathy, Increased...	OMIM:617713
Lipoyltransferase 1 Deficiency	Pulmonary arterial hypertension, Increased serum lactate, Increased total bilirubin, Bradycardia,...	OMIM:616299
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia	OMIM:618426
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:605115
Adenine Phosphoribosyltransferase Deficiency	Macroscopic hematuria, Hypertension, Urinary hesitancy, Urinary retention, Atrial fibrillation, D...	ORPHA:976
Coproporphyria, Hereditary	Increased urinary porphobilinogen, Hypertension, Tachycardia, Elevated urinary delta-aminolevulin...	OMIM:121300
Dent Disease 2	Nephrocalcinosis, Elevated circulating creatine kinase concentration, Proximal tubulopathy, Hypop...	OMIM:300555
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Metabolic acidosis, Increased serum lactate, Increased total bilirubin	OMIM:618528
Phosphoribosylpyrophosphate Synthetase Superactivity	Hypertension, Cardiomyopathy, Hyperuricemia, Renal insufficiency, Arrhythmia	ORPHA:3222
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Abnormal circulating neopterin concentration, Maturity-onset diabetes of the young, Hyperphenylal...	ORPHA:1578
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Decreased prealbumin level, Tubulointerstitial nephritis, Nephrotic syndrome, Membranous nephropa...	ORPHA:37042
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Myoglobinuria, Elevated circulating creatine kinase concentration, Increased serum lactate, Incre...	ORPHA:2364
Renal Tubular Acidosis, Proximal	Renal tubular acidosis, Proximal renal tubular acidosis, Hyperchloremic acidosis	OMIM:179830
Pyruvate Dehydrogenase E3 Deficiency	Abnormal cardiac ventricular function, Hyperisoleucinemia, Increased serum lactate, Increased uri...	ORPHA:2394
Mirage Syndrome	Hyperkalemia, Hyponatremia, Hypospadias, Intracranial hemorrhage, Recurrent urinary tract infecti...	OMIM:617053
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Hypertension, Anuria, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic ...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Hypertension, Anuria, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic ...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Hypertension, Anuria, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic ...	OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Hypertension, Anuria, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic ...	OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Hypertension, Anuria, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic ...	OMIM:612926
Hereditary Fructose Intolerance	Hypophosphatemia, Hyperuricemia, Metabolic acidosis, Chronic kidney disease, Hypermagnesemia, Ren...	ORPHA:469
Lysosomal Acid Lipase Deficiency	Hyperkalemia, Hyponatremia, Pulmonary arterial hypertension, Acidosis, Hypercholesterolemia, Hypo...	ORPHA:275761
Mitochondrial Complex I Deficiency, Nuclear Type 11	Metabolic acidosis, Congestive heart failure, Increased serum lactate, Hypertrophic cardiomyopathy	OMIM:618234
Mitochondrial Complex I Deficiency, Nuclear Type 13	Metabolic acidosis, Hypertrophic cardiomyopathy	OMIM:618235
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum lactate, Cardiomyopathy, Hyperalaninemia, Hyperprolinemia, Metabolic acidosis, In...	OMIM:619046
Paragangliomas 6	Hypertension	OMIM:618464
Infant Botulism	Hyponatremia, Hypertension, Cardiac arrest, Hypotension	ORPHA:178478
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus	Lactic acidosis, Alaninuria	OMIM:202900
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Ethylmalonic aciduria, Episodic metabolic acidosis, Cardiomyopathy	OMIM:201470
Gaisböck Syndrome	Hyperproteinemia, Nephrocalcinosis, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Di...	ORPHA:90041
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Glycosuria, Metabolic acidosis, Aminoaciduria, Proteinuria	OMIM:615605
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Lactic acidosis, Increased serum lactate	OMIM:614096
Mitochondrial Myopathy, Infantile, Transient	Elevated circulating creatine kinase concentration, Increased serum lactate, Increased serum pyru...	OMIM:500009
Hawkinsinuria	4-Hydroxyphenylpyruvic aciduria, Hypertyrosinemia, Metabolic acidosis, 4-hydroxyphenylacetic acid...	OMIM:140350
Central Diabetes Insipidus	Hyponatremia	ORPHA:178029
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Metabolic acidosis, Increased serum pyruvate, Lactic acidosis, Hyperalaninemia	OMIM:245349
Arterial Calcification, Generalized, Of Infancy, 1	Myocardial infarction, Hypertension, Congestive heart failure, Hypophosphatemic rickets	OMIM:208000
Lessel-Kubisch Syndrome	Renal hypoplasia, Hypertension, Renal insufficiency	OMIM:618681
Rhabdoid Tumor	Hypercalcemia, Hypertension, Hematuria, Renal neoplasm, Internal hemorrhage	ORPHA:69077
Coenzyme Q10 Deficiency, Primary, 5	Lactic acidosis, Bradycardia, Increased serum lactate, Hyperalaninemia	OMIM:614654
Mercury Poisoning	Acute kidney injury, Hypokalemia	ORPHA:330021
Glycerol Kinase Deficiency	Metabolic acidosis, Increased urinary glycerol, Hypertriglyceridemia, Ketoacidosis	OMIM:307030
Combined Malonic And Methylmalonic Acidemia	Dicarboxylic acidemia, Methylmalonic acidemia, Ketoacidosis, Methylmalonic aciduria, Dicarboxylic...	ORPHA:289504
Primary Intestinal Lymphangiectasia	Hypomagnesemia, Hypoproteinemia, Hypocalcemia, Hypoalbuminemia	ORPHA:90362
Argininosuccinic Aciduria	Oroticaciduria, Respiratory alkalosis, Hyperglutaminemia, Hypoargininemia, Hyperammonemia, Aminoa...	OMIM:207900
Alport Syndrome 3, Autosomal Dominant	Glomerular basement membrane lamellation, Hypertension, Nephrotic syndrome, Nephrocalcinosis, Glo...	OMIM:104200
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Elevated circulating creatine kinase concentration, Aminoaciduria, Lactic acidosis	OMIM:609560
Primary Hyperoxaluria Type 1	Calcinosis, Nephrocalcinosis, Hyperoxaluria, Hematuria, Decreased glomerular filtration rate, Dys...	ORPHA:93598
Rowley-Rosenberg Syndrome	Hypertension, Aminoaciduria, Pulmonary arterial hypertension	OMIM:268500
Nelson Syndrome	Increased urinary cortisol level, Type II diabetes mellitus, Diabetes insipidus, Hypokalemia, Inc...	ORPHA:199244
Hereditary Coproporphyria	Hyponatremia, Tachycardia, Abnormal circulating porphyrin concentration	ORPHA:79273
Gracile Syndrome	Renal Fanconi syndrome, Decreased transferrin saturation, Elevated hepatic iron concentration, In...	ORPHA:53693
Pyridoxal Phosphate-Responsive Seizures	Abnormal circulating threonine concentration, Hypoargininemia, Abnormal circulating histidine con...	ORPHA:79096
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Hypertrophic cardiomyopathy, Pulmonary arterial hypertension, Increased serum lactate, Tricuspid ...	OMIM:619051
Multicentric Carpotarsal Osteolysis Syndrome	Hypertension, Proteinuria, Renal insufficiency, Nephropathy	OMIM:166300
Hydroxykynureninuria	Renal tubular acidosis, Tachycardia, Abnormal circulating tryptophan concentration, Metabolic aci...	ORPHA:79155
Leprechaunism	Central hypothyroidism, Hypokalemia, Long penis, Nephrocalcinosis, Hyperaldosteronism, Increased ...	ORPHA:508
Methanol Poisoning	Cerebral hemorrhage, Hypertension, Intracranial hemorrhage, Hyperlipidemia, Permanent atrial fibr...	ORPHA:31825
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Glutaric aciduria, Hyperuricemia, Hyperammonemia, Increased level of hippuric acid in urine, 3-Me...	OMIM:246450
Nephronophthisis 3	Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst...	OMIM:604387
Sengers Syndrome	Hypertrophic cardiomyopathy, 3-Methylglutaconic aciduria, Exercise-induced lactic acidemia, Incre...	OMIM:212350
Familial Isolated Hyperparathyroidism	Elevated circulating parathyroid hormone level, Hyperphosphaturia, Hypercalcemia, Nephrocalcinosi...	ORPHA:99879
Infection-Related Hemolytic Uremic Syndrome	Hyperkalemia, Hyponatremia, Myocarditis, Decreased urine output, Hypertension, Anuria, Hypertensi...	ORPHA:544482
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Cerebral vasculitis	ORPHA:83601
Non-Functioning Paraganglioma	Cerebral hemorrhage, Hypercalcemia, Elevated urinary epinephrine, Palpitations, Hematuria, Elevat...	ORPHA:94080
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Proximal tubulopathy, Polyuria, Diabetes mellitus, Type I diabetes mellitus	OMIM:560000
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia, Hypertension	ORPHA:2111
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Proximal tubulopathy, Aminoaciduria, Lactic acidosis	OMIM:612075
Nephronophthisis 4	Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst...	OMIM:606966
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertension, Hypertriglyceridemia	ORPHA:71529
3-Methylglutaconic Aciduria Type 4	3-Methylglutaconic aciduria, Lactic acidosis, Cardiomyopathy	ORPHA:67048
Multiple Mitochondrial Dysfunctions Syndrome 5	Elevated circulating creatine kinase concentration, Increased serum lactate	OMIM:617613
Malonyl-Coa Decarboxylase Deficiency	Dilated cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Methylmalonic aciduria, Me...	OMIM:248360
Aapoaiv Amyloidosis	Abnormal cardiac ventricular function, Hypertrophic cardiomyopathy, Hypertension, Sinus bradycard...	ORPHA:439232
Melorheostosis With Osteopoikilosis	Hypertension	ORPHA:1879
Osteootohepatoenteric Syndrome	Grade II vesicoureteral reflux, Increased serum bile acid concentration, Proteinuria, Hypokalemia	OMIM:619377
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia, Nephrocalcinosis, Renal tubular acidosis, Hyperparathyroidism, Hypercalciuria	OMIM:239199
Posttransplant Acute Limbic Encephalitis	Hyponatremia	ORPHA:163921
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyperkalemia, Hyponatremia	ORPHA:90790
Glucocorticoid Resistance, Generalized	Hypertension, Metabolic alkalosis	OMIM:615962
Cystinosis, Nephropathic	Hyponatremia, Renal Fanconi syndrome, Generalized aminoaciduria, Nephrolithiasis, Glycosuria, Sta...	OMIM:219800
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Increased serum lactate, Mildly elevated creatine kinase	ORPHA:457050
Lipoid Congenital Adrenal Hyperplasia	Hypospadias, Renal salt wasting, Congenital adrenal hyperplasia, Adrenogenital syndrome	OMIM:201710
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Increased serum pyruvate, Increased serum lactate	OMIM:545000
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypertension, Lactic acidosis, Arrhythmia	OMIM:617021
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Increased serum lactate, Hyperglycinemia, Lacticaciduria	OMIM:619063
Rabson-Mendenhall Syndrome	Increased serum testosterone level, Hypokalemia, Long penis, Nephrocalcinosis, Diabetic ketoacido...	ORPHA:769
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Hypertension, Lactic acidosis, Congestive heart failure, Wolff-Parkinson-White syndrome, Abnormal...	OMIM:540000
Brachydactyly-Arterial Hypertension Syndrome	Hypertension	ORPHA:1276
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Hemoglobinuria, Unconjugated hyperbilirubinemia, Hypokalemia, Anuria, Elevated circ...	ORPHA:90038
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Dilated cardiomyopathy, Hypertension, Hypertrophic cardiomyopathy, Increased serum lactate, Conge...	ORPHA:1349
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Lactic acidosis, Increased serum lactate	OMIM:616111
Mitochondrial Myopathy With Lactic Acidosis	Increased serum pyruvate, Lactic acidosis, Increased serum lactate, Hyperalaninemia	OMIM:251950
Lethal Infantile Mitochondrial Myopathy	Cardiomyopathy, Renal insufficiency, Severe lactic acidosis	ORPHA:254857
Myopathy With Lactic Acidosis, Hereditary	Myoglobinuria, Elevated circulating creatine kinase concentration, Palpitations, Increased serum ...	OMIM:255125
Mitochondrial Complex I Deficiency, Nuclear Type 30	Metabolic acidosis, Congestive heart failure	OMIM:301021
Fanconi Renotubular Syndrome 2	Generalized aminoaciduria, Proximal tubulopathy, Hypophosphatemia, Glycosuria, Hypercalciuria, Re...	OMIM:613388
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Abnormal concentration of acylcarnitine in the urine, Increased seru...	ORPHA:391428
Liver Failure, Infantile, Transient	Lactic acidosis, Increased serum lactate, Hyperbilirubinemia	OMIM:613070
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Elevated circulating creatine kinase concentration, Increased serum lactate	OMIM:617069
Pseudohypoparathyroidism, Type Ib	Elevated circulating parathyroid hormone level, Low urinary cyclic AMP response to PTH administra...	OMIM:603233
Bardet-Biedl Syndrome 17	Renal cyst, Stage 5 chronic kidney disease, Hypogonadism, Micropenis, Polyuria	OMIM:615994
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal tubular atrophy, Renal hypoplasia, Hypertension, Tubulointerstitial nephritis, Renal cortic...	OMIM:174000
Senior-Loken Syndrome 3	Nephronophthisis, Renal corticomedullary cysts, Stage 5 chronic kidney disease, Enuresis, Polyuria	OMIM:606995
Combined Oxidative Phosphorylation Deficiency 43	Elevated circulating creatine kinase concentration, Increased serum lactate	OMIM:618851
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Abnormal circulating pyruvate family amino acid concentration, Lactic acidosis, Increased serum l...	ORPHA:255182
Senior-Loken Syndrome	Chronic kidney disease, Nephronophthisis, Hypertension, Stage 5 chronic kidney disease	ORPHA:3156
D-Glyceric Aciduria	Nonketotic hyperglycinemia, Hyperglycinemia, Increased circulating free fatty acid level, Hypergl...	ORPHA:941
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation	Proximal renal tubular acidosis, Bicarbonate-wasting renal tubular acidosis, Hyperchloremic acidosis	OMIM:604278
Hypertension And Brachydactyly Syndrome	Hypertension	OMIM:112410
Primary Hyperoxaluria	Nephrocalcinosis, Hyperoxaluria, Calcium oxalate nephrolithiasis, Hematuria, Aciduria, Stage 5 ch...	ORPHA:416
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Hypertrophic cardiomyopathy, Hypertension, Congestive heart failure, Pulmonary embolism, Arrhythmia	ORPHA:1345
Combined Oxidative Phosphorylation Deficiency 4	Metabolic acidosis, Lactic acidosis, Increased serum lactate, Hyperammonemia	OMIM:610678
Isovaleric Acidemia	Metabolic acidosis, Hyperglycinuria, Ketoacidosis, Cerebellar hemorrhage	OMIM:243500
Legionnaires Disease	Myocarditis, Hyponatremia, Pericarditis, Arrhythmia, Hypotension	ORPHA:549
Heme Oxygenase 1 Deficiency	Hypertension, Hematuria, Nephritis, Epistaxis, Increased circulating ferritin concentration, Prot...	OMIM:614034
Alagille Syndrome 2	Renal hypoplasia, Hypertension, Renal tubular acidosis, Hematuria, Renal cyst, Pulmonic stenosis,...	OMIM:610205
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypospadias, Renal salt wasting, Hypertension	OMIM:201910
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypertension, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Recu...	OMIM:613095
Mitochondrial Complex I Deficiency, Nuclear Type 33	Metabolic acidosis, Hyperammonemia	OMIM:618253
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome...	OMIM:310468
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hyperphosphaturia, Hypophosphatemia, Nephrolithiasis, Renal phosphate wasting, Hypercalciuria	OMIM:612286
Porphyria Due To Ala Dehydratase Deficiency	Hyponatremia, Increased erythrocyte protoporphyrin concentration, Abnormal circulating porphyrin ...	ORPHA:100924
Pyloric Stenosis, Infantile Hypertrophic, 1	Hypochloremic metabolic alkalosis	OMIM:179010
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hypertrophic cardiomyopathy, Hyperlipidemia, Postprandial hyperlactemia, Intermittent lactic acid...	ORPHA:369
Glucose/Galactose Malabsorption	Metabolic acidosis, Glycosuria	OMIM:606824
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Renal salt wasting, Adrenal insufficiency, Adrenocorticotropic hormone excess, Hyperaldosteronism	OMIM:613743
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pulmonary arterial hypertension, Increased serum lactate, Hyperglycinemia, Hyperalaninemia, Lacti...	OMIM:619059
Glutathione Synthetase Deficiency	Increased level of L-pyroglutamic acid in urine, Chronic metabolic acidosis	OMIM:266130
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Hypertension, Decreased glomerular filtration rate, Renal insufficiency, Stage 5 chronic kidney d...	OMIM:618061
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Metabolic acidosis, Increased serum lactate	OMIM:610090
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol...	OMIM:267700
Hyperoxaluria, Primary, Type I	Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hyperoxaluria, Hematuria, Atrioventricular blo...	OMIM:259900
Renal Hypoplasia	Urethral valve, Hydronephrosis, Abnormality of the ureter, Hypertension, Pelvic kidney, Glomerulo...	ORPHA:93101
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hypercalcemia, Hyperparathyroidism, Glomerulopathy, Proteinuria, Renal insufficiency	ORPHA:2668
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hypertrophic cardiomyopathy, Renal hypoplasia, Increased serum lactate, Metabolic acidosis, Keton...	OMIM:619053
Whipple Disease	Myocarditis, Hyponatremia, Pericarditis, Myocardial infarction, Gastrointestinal hemorrhage, Hypo...	ORPHA:3452
Small Cell Carcinoma Of The Bladder	Recurrent urinary tract infections, Hypercalcemia, Hematuria, Dysuria	ORPHA:284400
D-Glyceric Aciduria	Metabolic acidosis, Aminoaciduria, Nonketotic hyperglycinemia	OMIM:220120
Combined Oxidative Phosphorylation Deficiency 5	Metabolic acidosis, Abnormal renal tubule morphology, Increased serum lactate, Hypertrophic cardi...	OMIM:611719
Combined Oxidative Phosphorylation Deficiency 6	Increased serum pyruvate, Increased serum lactate	OMIM:300816
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Hypertension, Proteinuria, Nephrotic syndrome, Nephropathy	ORPHA:1192
Scorpion Envenomation	Hypokalemia, Respiratory alkalosis, Abnormality of acid-base homeostasis, Glycosuria, Increased c...	ORPHA:466677
Fanconi-Bickel Syndrome	Hyperphosphaturia, Generalized aminoaciduria, Nephrocalcinosis, Renal tubular acidosis, Hypophosp...	ORPHA:2088
Lactic Acidosis, Chronic Adult Form	Chronic lactic acidosis, Hyperuricemia	OMIM:150170
Pheochromocytoma	Episodic hypertension, Hypercalcemia, Cerebral hemorrhage, Tachycardia, Elevated urinary norepine...	OMIM:171300
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Metabolic acidosis, Decreased plasma carnitine, Medium chain dicarboxylic aciduria, Hyperglycinuria	OMIM:201450
Alport Syndrome 2, Autosomal Recessive	Glomerular basement membrane lamellation, Hypertension, Nephrotic syndrome, Hematuria, Nephritis,...	OMIM:203780
Coenzyme Q10 Deficiency, Primary, 8	Renal dysplasia, Elevated circulating creatinine concentration, Hypertension, Abnormal renal cort...	OMIM:616733
Combined Oxidative Phosphorylation Deficiency 45	Cardiac arrest, Increased serum lactate	OMIM:618951
Glutaric Acidemia Type 3	Ketoacidosis, Glutaric aciduria, Elevated circulating glutaric acid concentration, Abnormality of...	ORPHA:35706
Beta-Ketothiolase Deficiency	Hypertension, Ketoacidosis, Increased serum lactate, Hyperuricemia, Hyperammonemia, Metabolic aci...	ORPHA:134
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Hyperphosphaturia, Renal phosphate wasting, Hypophosphatemia, Nephrolithiasis	OMIM:612287
Nephronophthisis 11	Renal tubular atrophy, Nephronophthisis, Renal corticomedullary cysts, Stage 5 chronic kidney dis...	OMIM:613550
Combined Oxidative Phosphorylation Deficiency 14	Aminoaciduria, Lactic acidosis, Increased serum lactate	OMIM:614946
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypospadias, Hypercalcemia, Micropenis, Adrenal hypoplasia, Decreased response to growth hormone ...	OMIM:614732
Vipoma	Hypercalcemia, Adrenocortical adenoma, Hypokalemia, Increased circulating cortisol level, Increas...	ORPHA:97282
Glycogen Storage Disease Ic	Hypertension, Focal segmental glomerulosclerosis, Spider hemangioma, Hyperlipidemia, Hematuria, D...	OMIM:232240
Pearson Marrow-Pancreas Syndrome	Renal Fanconi syndrome, 3-Methylglutaric aciduria, Metabolic acidosis, Lactic acidosis, Complex o...	OMIM:557000
Barth Syndrome	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Intermittent lactic acidemia, Congestive hea...	OMIM:302060
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Hypertrophic cardiomyopathy, Lactic acidosis, Increased serum lactate	OMIM:604377
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	3-Methylglutaconic aciduria, Lactic acidosis, Increased serum lactate, Hyperammonemia	OMIM:614739
Pyruvate Dehydrogenase E1-Alpha Deficiency	Chronic lactic acidosis, Increased serum lactate, Severe lactic acidosis, Hyperalaninemia	OMIM:312170
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Nephrocalcinosis, Renal tubular acidosis, Conjugated hyperbilirubinemia, Nephropathy, Metabolic a...	OMIM:613404
Teratoma, Pineal	Polyuria	OMIM:273120
Perrault Syndrome 5	Elevated circulating creatine kinase concentration, Increased serum pyruvate, Increased serum lac...	OMIM:616138
Triokinase And Fmn Cyclase Deficiency Syndrome	Dilated cardiomyopathy, Lactic acidosis, Reduced systolic function, Hypoalbuminemia	OMIM:618805
Oculocerebrorenal Syndrome Of Lowe	Hypophosphatemia, Proximal renal tubular acidosis, Oligosacchariduria, Hyperaldosteronism, Hyperc...	ORPHA:534
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Adrenal hyperplasia, Adrenogenital syndrome, Hypokalemic alkalosis	OMIM:202110
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Metabolic acidosis, Myoglobinuria	OMIM:602199
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy	Increased serum lactate	OMIM:619196
Combined Oxidative Phosphorylation Deficiency 17	Hypertrophic cardiomyopathy, Lactic acidosis, Congestive heart failure	OMIM:615440
Polyarteritis Nodosa	Hypertension, Pericarditis, Cardiomyopathy, Raynaud phenomenon, Elevated circulating C-reactive p...	ORPHA:767
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Cyanosis, Renal steatosis, Lactic acidosis, Low plasma citrulline, Ketonuria	OMIM:261680
Mitochondrial Complex I Deficiency, Nuclear Type 12	Increased serum lactate	OMIM:301020
Plin1-Related Familial Partial Lipodystrophy	Hypertension, Hypertriglyceridemia	ORPHA:280356
Porphyria	Hypertension, Abnormal urinary color, Abnormal circulating porphyrin concentration	ORPHA:738
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Hypertrophic cardiomyopathy, Myoglobinuria, Elevated circulating creatine kinase concentration, V...	OMIM:616878
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Ethylmalonic aciduria, Severe lactic acidosis, Elevated circulating creatine kinase concentration...	OMIM:619355
Wolcott-Rallison Syndrome	Hyponatremia, Ketoacidosis, Hyperbilirubinemia, Hyperammonemia, Hypoalbuminemia	ORPHA:1667
Mitochondrial Complex I Deficiency, Nuclear Type 34	Metabolic acidosis, Lactic acidosis	OMIM:618776
Sneddon Syndrome	Hypertension, Intracranial hemorrhage, Nephropathy	ORPHA:820
Epilepsy, Early-Onset, Vitamin B6-Dependent	Metabolic acidosis	OMIM:617290
Combined Oxidative Phosphorylation Deficiency 38	Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Lactic acidosis, Increased serum lac...	OMIM:618378
Herpes Simplex Virus Encephalitis	Hyponatremia, Elevated circulating C-reactive protein concentration	ORPHA:1930
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Elevated circulating creatine kinase concentration, Increased serum lactate	OMIM:617070
Combined Oxidative Phosphorylation Deficiency 39	Increased serum lactate	OMIM:618397
Ochoa Syndrome	Hypertension, Hydronephrosis, Recurrent urinary tract infections, Urinary incontinence, Vesicoure...	ORPHA:2704
Autosomal Dominant Polycystic Kidney Disease	Hypertension, Elevated circulating creatinine concentration, Decreased glomerular filtration rate...	ORPHA:730
Sudden Cardiac Failure, Infantile	Hypertrophic cardiomyopathy, Myocarditis, Bradycardia, Congestive heart failure, Metabolic acidosis	OMIM:617222
Combined Oxidative Phosphorylation Deficiency 1	Metabolic acidosis, Elevated lactate:pyruvate ratio, Increased serum lactate	OMIM:609060
Propionic Acidemia	Cardiomyopathy, Hyperglycinemia, Hyperammonemia, Increased level of hippuric acid in urine, Hyper...	OMIM:606054
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Ketoacidosis, Acute hyperammonemia, Hyperglycinuria, Metabolic acidosis, Organic aciduria, Ketonuria	OMIM:210210
Hypotonia-Cystinuria Syndrome	Lactic acidosis, Nephrolithiasis, Cystinuria, Hypocalcemia	OMIM:606407
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Renal cortical cysts, Increased serum lactate, Hyperalaninemia, Increased serum pyruvate, Lactic ...	OMIM:617668
Acyl-Coa Dehydrogenase 9 Deficiency	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Dicarboxylic aciduria, Increased serum lacta...	ORPHA:99901
Phenformin 4-Hydroxylation	Lactic acidosis	OMIM:261590
Fructose Intolerance, Hereditary	Hyperphosphaturia, Transient aminoaciduria, Proximal tubulopathy, Hypophosphatemia, Hyperbilirubi...	OMIM:229600
Dihydrolipoamide Dehydrogenase Deficiency	Metabolic acidosis, Lactic acidosis, Hypertrophic cardiomyopathy	OMIM:246900
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Methylmalonic aciduria, Lacticaciduria, Elevated lactate:pyruvate ratio, Hyperglycinemia, Hyperta...	OMIM:245400
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Metabolic acidosis, Proximal renal tubular acidosis	OMIM:615824
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hyperphosphaturia, Hypophosphatemia, Nephrolithiasis, Increased circulating beta-C-terminal telop...	ORPHA:157215
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypospadias, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia, Micropenis, Lactic...	OMIM:618815
Combined Malonic And Methylmalonic Aciduria	Ketoacidosis, Methylmalonic aciduria	OMIM:614265
Mitochondrial Complex I Deficiency, Nuclear Type 14	Hypertrophic cardiomyopathy, Lactic acidosis, Increased serum lactate	OMIM:618236
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert	Hypertension, Telangiectases producing 'marbled' skin	OMIM:206570
Porphyria Variegata	Hyponatremia, Hypertension, Tachycardia, Abnormal circulating porphyrin concentration	ORPHA:79473
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Oroticaciduria, Respiratory alkalosis, Hyperammonemia, Abnormal circulating citrulline concentrat...	ORPHA:415
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Hyperuricosuria, Hyperuricemia, Renal insufficiency, Acute kidney injury, Uric acid nephrolithias...	ORPHA:411536
Mitochondrial Complex I Deficiency, Nuclear Type 22	Hypertrophic cardiomyopathy, Lactic acidosis	OMIM:618243
Multiple Acyl-Coa Dehydrogenase Deficiency	Ethylmalonic aciduria, Lacticaciduria, Elevated circulating creatine kinase concentration, Glutar...	ORPHA:26791
Glutaric Aciduria Iii	Hypertension, Glutaric aciduria	OMIM:231690
Coach Syndrome 2	Hyperechogenic kidneys, Hypertension, Elevated circulating creatinine concentration	OMIM:619111
Severe X-Linked Mitochondrial Encephalomyopathy	Increased serum pyruvate, Increased serum lactate	ORPHA:238329
Encephalopathy, Ethylmalonic	Ethylmalonic aciduria, Lactic acidosis, Acrocyanosis	OMIM:602473
Tako-Tsubo Cardiomyopathy	Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out...	ORPHA:66529
Adult Acute Respiratory Distress Syndrome	Shock, Hypoxemia, Diabetic ketoacidosis, Abnormal blood gas level, Vasculitis, Metabolic acidosis...	ORPHA:70578
Sporadic Pheochromocytoma/Secreting Paraganglioma	Cerebral hemorrhage, Hypercalcemia, Elevated urinary epinephrine, Palpitations, Hematuria, Glomer...	ORPHA:276621
Adrenal Hypoplasia, Congenital	Hyponatremia, Adrenal insufficiency, Decreased circulating aldosterone level, Hypogonadotropic hy...	OMIM:300200
Ethylmalonic Encephalopathy	Ethylmalonic aciduria, Lactic acidosis, Acrocyanosis	ORPHA:51188
Fructose-1,6-Bisphosphatase Deficiency	Neonatal hyperbilirubinemia, Intermittent lactic acidemia, Tachycardia, Hyperalaninemia, Hyperuri...	ORPHA:348
Hypophosphatemic Rickets And Hyperparathyroidism	Elevated circulating parathyroid hormone level, Hypercalcemia, Hypophosphatemia, Renal phosphate ...	OMIM:612089
Xfe Progeroid Syndrome	Hypertension, Proteinuria, Renal insufficiency	OMIM:610965
Pseudo-Torch Syndrome 3	Cerebral hemorrhage, Hypertension, Increased circulating ferritin concentration, Acute kidney inj...	OMIM:618886
Primary Hyperoxaluria Type 3	Calcium oxalate nephrolithiasis, Abnormality of urine homeostasis, Nephrocalcinosis, Hematuria, H...	ORPHA:93600
Atrial Fibrillation, Familial, 14	Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation	OMIM:615378
Hereditary Renal Hypouricemia	Hypouricemia, Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, D...	ORPHA:94088
Moyamoya Disease 6 With Or Without Achalasia	Ischemic stroke, Hypertension, Raynaud phenomenon	OMIM:615750
Late-Onset Isolated Acth Deficiency	Hyponatremia, Hypercalcemia, Orthostatic hypotension, Hyperuricemia, Hypotension	ORPHA:199299
Tetanus	Hypertension, Elevated urinary epinephrine, Elevated circulating creatine kinase concentration, T...	ORPHA:3299
Lipodystrophy, Familial Partial, Type 1	Hypertension, Hypertriglyceridemia	OMIM:608600
Mitochondrial Complex I Deficiency, Nuclear Type 3	Metabolic acidosis	OMIM:618224
Hypophosphatemic Rickets, Autosomal Dominant	Renal phosphate wasting, Hypophosphatemia, Hypophosphatemic rickets	OMIM:193100
Analbuminemia	Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypercho...	OMIM:616000
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Cystic renal dysplasia, Decreased plasma free carnitine, Tubulointerstitial nephritis, Myoglobinu...	ORPHA:228308
Glutaric Acidemia I	Metabolic acidosis, Glutaric aciduria, Elevated circulating glutaric acid concentration, Ketonuria	OMIM:231670
Hepatocellular Carcinoma	Hyponatremia, Hypercalcemia, Metabolic alkalosis, Hypokalemia, Budd-Chiari syndrome, Hyperbilirub...	ORPHA:88673
Andersen Cardiodysrhythmic Periodic Paralysis	Hypokalemia	OMIM:170390
Medullary Sponge Kidney	Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria	ORPHA:1309
Amelogenesis Imperfecta, Type Ig	Nephrocalcinosis, Impaired renal concentrating ability, Enuresis, Polyuria, Renal insufficiency	OMIM:204690
Maple Syrup Urine Disease	Increased level of hippuric acid in urine, Lactic acidosis, Elevated circulating L-alloisoleucine...	OMIM:248600
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Increased serum lactate, Mildly elevated creatine kinase	ORPHA:663
Coenzyme Q10 Deficiency, Primary, 1	Hypertrophic cardiomyopathy, Nephrotic syndrome, Elevated circulating creatine kinase concentrati...	OMIM:607426
Moyamoya Disease With Early-Onset Achalasia	Hypertension, Raynaud phenomenon	ORPHA:401945
Hypoparathyroidism, Familial Isolated, 2	Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalcemic seizures, Hypoca...	OMIM:618883
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Methylmalonic aciduria, Hyperglycinemia, Hyperammonemia, Metabolic acidos...	OMIM:251110
Alg8-Cdg	Hyponatremia	ORPHA:79325
Familial Cervical Artery Dissection	Hypertension, Recurrent cerebral hemorrhage, Cerebral ischemia, Transient ischemic attack, Subara...	ORPHA:36382
Monocarboxylate Transporter 1 Deficiency	Ketoacidosis, Ketonuria	OMIM:616095
Hyperparathyroidism 4	Hypercalcemia, Primary hyperparathyroidism, Parathyroid carcinoma, Nephrolithiasis	OMIM:617343
Posterior Urethral Valve	Hypertension, Hydronephrosis, Urinary retention, Urethral stenosis, Congenital posterior urethral...	ORPHA:93110
Glycogen Storage Disease 0, Liver	Increased serum lactate	OMIM:240600
Potocki-Shaffer Syndrome	Hypertension, Micropenis, Nephroblastoma	ORPHA:52022
Familial Dysautonomia	Orthostatic hypotension, Hyponatremia, Hypertension, Tachycardia	ORPHA:1764
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Nephrocalcinosis, Renal tubular acidosis, Conjugated hyperbilirubinemia, Nephropathy, Metabolic a...	OMIM:208085
Abdominal Obesity-Metabolic Syndrome 4	Hypertension, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, M...	OMIM:618620
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Increased circulating ferritin concentration, Lactic acidosis, Increased serum lactate	OMIM:600462
Hereditary Amyloidosis With Primary Renal Involvement	Renal tubular atrophy, Hypertension, Decreased HDL cholesterol concentration, Tubulointerstitial ...	ORPHA:85450
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