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 (1091 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		Hyperchloremia, Hyperkalemia, Hypertension, 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 Iie	Metabolic acidosis, Hyperchloremia, Hyperkalemia, Hypertension, Hyperchloremic metabolic acidosis	OMIM:614496
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia, Hypertension, Hyperchloremic metabolic acidosis	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia, Hypertension, Hyperchloremic metabolic acidosis	OMIM:614495
Pseudohypoaldosteronism, Type Iic	Metabolic acidosis, Decreased circulating renin level, Hyperchloremia, Hyperkalemia, Hypertension...	OMIM:614492
Bartter Syndrome, Type 3	Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Hyperaldosteronism, Increased urinary potassiu...	OMIM:607364
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hypokalemic hypochloremic metabolic alkalosis, Hyperchloriduria, Hypernatriuria, Hyperaldosteroni...	OMIM:613090
Pseudohypoaldosteronism, Type Iia	Hyperkalemia, Hypertension, Hyperchloremic acidosis	OMIM:145260
Bartter Syndrome, Type 5, Antenatal, Transient	Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Hypochloremia, I...	OMIM:300971
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Proximal tubulopathy, Increased serum prostaglandin E2, Hypokalemia, Hypokalemic alkalosis, Abnor...	OMIM:241150
Diarrhea 1, Secretory Chloride, Congenital	Alkalosis, Hyperaldosteronism, Elevated serum bicarbonate concentration, Hypokalemia, Hyponatremi...	OMIM:214700
Malignant Hyperthermia, Susceptibility To, 1	Hypotension, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Myoglobinuria...	OMIM:145600
Hypocalcemia, Autosomal Dominant 1	Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Decreased glomerular filtration rate, Hypoca...	OMIM:601198
Hypokalemic Tubulopathy And Deafness	Hyperaldosteronism, Renal salt wasting, Acidosis, Increased circulating renin level	OMIM:619406
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Nephrocalcinosis, Hypomagnesemia, Hypocalcemia, Metabolic acidosis, Hypokalemia, Hyponatremia, Po...	OMIM:620152
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hypotension, Metabolic acidosis, Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620125
East Syndrome	Abnormal urinary electrolyte concentration, Renal magnesium wasting, Hypomagnesemia, Hyperaldoste...	ORPHA:199343
Corticosterone Methyloxidase Type Ii Deficiency	Increased circulating 18-hydroxycortisone level, Hyponatremia, Increased circulating corticostero...	OMIM:610600
Hyperchlorhidrosis, Isolated	Hyponatremia, Hyperkalemia	OMIM:143860
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Renal potassium ...	ORPHA:564178
Bartter Syndrome, Type 1, Antenatal	Hyperparathyroidism, Nephrocalcinosis, Hyperchloriduria, Increased serum prostaglandin E2, Renal ...	OMIM:601678
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hypokalemic hypochloremic metabolic alkalosis, Hyperchloriduria, Hypernatriuria, Hyperaldosteroni...	OMIM:602522
Glomerulopathy With Fibronectin Deposits 1	Nephropathy, Acidosis, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal ins...	OMIM:137950
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hypotension, Metabolic acidosis, Hyponatremia, Renal salt wasting, Hyperkalemia	OMIM:264350
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Hypokalemia, Polyuria, Renal potassium...	OMIM:618314
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Chronic kidney disease, Increased circulating lactate concentration, Hypomagnesemia, Hyperechogen...	OMIM:613845
Pseudohypoaldosteronism Type 2	Hyperkalemia, Hypertension	ORPHA:757
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypocalciuria, Enuresis, Hypomagnesemia, Hyperaldosteronism, Renal sodium wasting, Hypokalemia, P...	OMIM:612780
Malignant Hyperthermia, Susceptibility To, 2	Hyperkalemia, Hyperphosphatemia, Lactic acidosis, Elevated circulating creatine kinase concentration	OMIM:154275
Bartter Syndrome Type 4	Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Hypomagnesemia, Hyperaldosteronism...	ORPHA:89938
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Metabolic acidosis, Increased circulating renin level	OMIM:620126
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hyperamylasemia, Bicarbonate-wasting renal tubular acidosis, Metabolic acidosis, Hypokalemia, Hyp...	OMIM:604278
Hemangioma-Thrombocytopenia Syndrome	Ventricular arrhythmia, Hyperkalemia	OMIM:141000
Nephronophthisis 2	Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ...	OMIM:602088
Hypertension, Essential	Elevated mean arterial pressure, Elevated systolic blood pressure, Elevated diastolic blood pressure	OMIM:145500
Malignant Hyperthermia, Susceptibility To, 3	Hyperkalemia, Hyperphosphatemia, Lactic acidosis, Elevated circulating creatine kinase concentration	OMIM:154276
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Decreased circulating aldosterone level, Renal salt wasting, Hyperkalemia, Increase...	OMIM:203400
Hyperaldosteronism, Familial, Type Iii	Hyperaldosteronism, Adrenal hyperplasia, Metabolic acidosis, Decreased circulating renin level, H...	OMIM:613677
Liddle Syndrome 1	Renal insufficiency, Decreased circulating renin level, Hypokalemia, Decreased circulating aldost...	OMIM:177200
Late-Onset Familial Hypoaldosteronism	Renal sodium wasting, Hyponatremia, Decreased circulating aldosterone level, Elevated serum 11-de...	ORPHA:556037
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hypotension, Metabolic acidosis, Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:177735
Hypomagnesemia 2, Renal	Hypocalciuria, Renal magnesium wasting, Hypomagnesemia, Renal insufficiency, Hypokalemia	OMIM:154020
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Acute kidney injury, Hyperkalemia, Myoglobinuria, Elevated circulating creatine kinase concentration	OMIM:268200
Renal Failure, Progressive, With Hypertension	Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i...	OMIM:161900
Hypercalcemia, Infantile, 2	Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis, Hypophosphatemia, Hypercal...	OMIM:616963
Bartter Syndrome, Type 2, Antenatal	Nephrocalcinosis, Hyperchloriduria, Increased serum prostaglandin E2, Renal juxtaglomerular cell ...	OMIM:241200
Early-Onset Familial Hypoaldosteronism	Renal sodium wasting, Hyponatremia, Decreased circulating aldosterone level, Elevated serum 11-de...	ORPHA:556030
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Parathyroid agenesis, Congenital hypoparathyroid...	ORPHA:2239
Familial Hypoaldosteronism	Hypotension, Metabolic acidosis, Hyponatremia, Hypovolemia, Decreased urinary potassium, Orthosta...	ORPHA:427
Hypomagnesemia 6, Renal	Impaired renal tubular reabsorption of magnesium, Hypomagnesemia	OMIM:613882
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia, Cyanosis	OMIM:240200
Hyperkalemic Periodic Paralysis	Hyperkalemia	OMIM:170500
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia	OMIM:609153
Fanconi Renotubular Syndrome 1	Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur...	OMIM:134600
Polycystic Kidney Disease 7	Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ...	OMIM:620056
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Nephrocalcinosis, Distal renal tubular acidosis, Metabolic acidosis, Hypokalemia, Hypercalciuria	OMIM:602722
Apparent Mineralocorticoid Excess	Nephrocalcinosis, Renal insufficiency, Abnormality of circulating cortisol level, Decreased circu...	ORPHA:320
Glomerulopathy With Fibronectin Deposits 2	Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis...	OMIM:601894
Hypercalcemia, Infantile, 1	Decreased circulating parathyroid hormone level, Nephrocalcinosis, Medullary nephrocalcinosis, Ne...	OMIM:143880
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoornithinemia, Elevated urine acetoacetic acid level, Elevated urine suberic acid level, Eleva...	OMIM:615751
Renal Hypoplasia, Bilateral	Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas...	ORPHA:97362
Liddle Syndrome	Nephropathy, Cerebral ischemia, Renal insufficiency, Hypokalemia, Arrhythmia, Hypertension	ORPHA:526
Liddle Syndrome 2	Hypokalemia, Metabolic alkalosis, Hypertension, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypokalemia, Metabolic alkalosis, Hypertension, Decreased circulating renin level	OMIM:618126
Malignant Hyperthermia Of Anesthesia	Acute kidney injury, Hyperphosphatemia, Supraventricular tachycardia, High-output congestive hear...	ORPHA:423
Primary Unilateral Adrenal Hyperplasia	Increased urinary potassium, Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia,...	ORPHA:231580
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Increased circulating cortisol level, Increased urinary potassium, Decreased circulating renin le...	ORPHA:231625
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia, Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Ren...	ORPHA:54370
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Increased circulating lactate concentration, Increased total bilirubin, Metaboli...	OMIM:618528
Gitelman Syndrome	Hypocalciuria, Enuresis, Renal magnesium wasting, Hypomagnesemia, Hypokalemia, Hypokalemic alkalo...	OMIM:263800
Pyruvate Dehydrogenase Phosphatase Deficiency	Increased circulating lactate concentration, Lactic acidosis, Hyperprolinemia, Hyperalaninemia, L...	ORPHA:79246
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Chronic kidney disease, Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Recurrent urin...	OMIM:248190
Type 1 Diabetes Mellitus	Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus, Polyuria, Ketoacidosis	OMIM:222100
Iga Nephropathy, Susceptibility To, 3	IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro...	OMIM:616818
Nail-Patella-Like Renal Disease	Renal insufficiency, Proteinuria, Glomerulopathy, Microscopic hematuria, Hypertension	ORPHA:2613
Renal Tubular Acidosis, Distal, 1	Nephrocalcinosis, Elevated circulating creatinine concentration, Distal renal tubular acidosis, H...	OMIM:179800
Familial Hyperaldosteronism Type Iii	Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, Hypercalciuria, Metabolic alkalosis...	ORPHA:251274
Cardiomyopathy, Familial Hypertrophic, 30, Atrial	Atrial flutter, Reduced left ventricular ejection fraction, Increased circulating brain natriuret...	OMIM:620734
Generalized Pseudohypoaldosteronism Type 1	Hypovolemic shock, Metabolic acidosis, Hyponatremia, Arrhythmia, Hyperkalemia, Increased circulat...	ORPHA:171876
Iga Nephropathy, Susceptibility To, 2	Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematur...	OMIM:613944
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Hyponatremia	ORPHA:3225
Hyperaldosteronism, Familial, Type Ii	Hypokalemia, Hypertension	OMIM:605635
Glycogen Storage Disease Due To Aldolase A Deficiency	Acute kidney injury, Myoglobinuria, Arrhythmia, Hyperkalemia, Elevated creatine kinase after exer...	ORPHA:57
Focal Segmental Glomerulosclerosis 2	Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote...	OMIM:603965
Apparent Mineralocorticoid Excess	Hypokalemia, Decreased circulating aldosterone level, Metabolic alkalosis, Decreased circulating ...	OMIM:218030
Hsd10 Disease, Neonatal Type	Abnormal concentration of acylcarnitine in the urine, Lactic acidosis, Hypertrophic cardiomyopath...	ORPHA:391457
Familial Pseudohyperkalemia	Hyperkalemia, Hypertension	ORPHA:90044
Colchicine Poisoning	Oliguria, Hypomagnesemia, Lactic acidosis, Renal insufficiency, Hypocalcemia, Metabolic acidosis,...	ORPHA:31824
Ectopic Aldosterone-Producing Tumor	Renal cortical adenoma, Hypokalemia, Decreased circulating renin level, Metabolic alkalosis, Gluc...	ORPHA:231632
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Fibronectin Glomerulopathy	Hypoalbuminemia, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Micr...	ORPHA:84090
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hypertension, Mi...	OMIM:613237
Genetic Recurrent Myoglobinuria	Acute kidney injury, Oliguria, Hyperphosphatemia, Exercise-induced myoglobinuria, Dark urine, Ren...	ORPHA:99845
Mitochondrial Complex I Deficiency, Nuclear Type 35	Cardiomyopathy, Lactic acidosis, Metabolic acidosis, Hyperprolinemia, Pulmonary arterial hyperten...	OMIM:619003
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal insufficienc...	OMIM:619468
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Nephrocalcinosis, Distal renal tubular acidosis, Metabolic acidosis, Hypokalemia, Isothenuria, Hy...	OMIM:611590
Familial Hyperaldosteronism Type Ii	Secretory adrenocortical adenoma, Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, M...	ORPHA:404
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Hematuria, Hypertension	OMIM:607832
Corticosteroid-Binding Globulin Deficiency	Hypokalemia, Decreased circulating cortisol level, Decreased urinary potassium, Reduced circulati...	OMIM:611489
Hypomagnesemia 3, Renal	Chronic kidney disease, Hyperphosphatemia, Hematuria, Macroscopic hematuria, Abnormal circulating...	OMIM:248250
Hypomagnesemia 4, Renal	Hypomagnesemia	OMIM:611718
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia, Arrhythmia	OMIM:616949
Gracile Syndrome	Aminoaciduria, Increased circulating iron concentration, Increased circulating ferritin concentra...	OMIM:603358
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Abnormal renal tubular resorption, Nephrocalcinosis, Hypomagnesemia, Hyperaldosteronism, Hypocalc...	ORPHA:73224
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Renal salt wasting, Hyperkalemia	OMIM:614736
Coronary Artery Disease, Autosomal Dominant, 1	Hypertension, Hypercholesterolemia, Myocardial infarction	OMIM:608320
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hypernatriuria, Abnormal circulating aldosterone, Decreased circulating renin level, Hyponatremia...	OMIM:300539
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1	Hypomagnesemia	OMIM:616418
Ethylene Glycol Poisoning	Hypotension, Elevated serum anion gap, Congestive heart failure, Shock, Lactic acidosis, Renal in...	ORPHA:31826
Mitochondrial Complex Iv Deficiency, Nuclear Type 18	Increased circulating lactate concentration, Increased serum pyruvate	OMIM:619062
Spastic Paraplegia-Nephritis-Deafness Syndrome	Nephropathy, Proteinuria, Hypertension	ORPHA:2820
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Congenital adren...	ORPHA:90791
Fanconi Renotubular Syndrome 5	Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemic rickets, Proteinuria,...	OMIM:618913
Hyperkalemic Periodic Paralysis	Congestive heart failure, Elevated circulating creatine kinase concentration, Hypokalemia, Hypona...	ORPHA:682
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Elevated circulating thyroid-stimulating hormone concentration, Hypomagnesemia, ...	OMIM:618183
Renal Tubular Acidosis Iii	Hypokalemia, Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis	OMIM:267200
Adrenocortical Carcinoma	Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre...	ORPHA:1501
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Nephrolithiasis, Hypokalemia, Decreased circulating renin level, Metabolic alkalosis, Primary hyp...	OMIM:615474
Preeclampsia/Eclampsia 1	Proteinuria, Hypertension	OMIM:189800
Fanconi-Bickel Syndrome	Hypouricemia, Generalized aminoaciduria, Acidosis, Ketonuria, Beta 2-microglobulinuria, Glycosuri...	OMIM:227810
Combined Oxidative Phosphorylation Deficiency 55	Increased circulating lactate concentration, Proximal tubulopathy, Organic aciduria, Hypomagnesem...	OMIM:619743
Juvenile Nephropathic Cystinosis	Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Metabolic acidosis, Hypophosphatem...	ORPHA:411634
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3	Hypertrophic cardiomyopathy, Lactic acidosis, 3-Methylglutaconic aciduria	OMIM:614053
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Alaninuria, Increased circulating lactate concentration, Metabolic acidosis	OMIM:615158
Primary Fanconi Renotubular Syndrome	Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Decreased circulating carnitine co...	ORPHA:3337
Osteopetrosis, Autosomal Recessive 9	Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperkalemia	OMIM:620366
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome	Hyperalaninemia, Metabolic acidosis	ORPHA:2597
Acute Adrenal Insufficiency	Androgen insufficiency, Increased circulating ACTH level, Primary adrenal insufficiency, Renal in...	ORPHA:95409
Cystinosis	Nephropathy, Aminoaciduria, Type I diabetes mellitus, Renal insufficiency, Renal tubular dysfunct...	ORPHA:213
Adenine Phosphoribosyltransferase Deficiency	Oliguria, Elevated circulating creatinine concentration, Urolithiasis, Renal insufficiency, 2,8-d...	OMIM:614723
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hyperparathyroidism, Hypocalciuria, Nephrolithiasis, Hypercalciuria, Parathyroid...	OMIM:145980
Sulfide:Quinone Oxidoreductase Deficiency	Lactic acidosis, Elevated circulating creatine kinase concentration	OMIM:619221
Hawkinsinuria	Abnormal circulating tyrosine concentration, 4-Hydroxyphenylpyruvic aciduria, 4-hydroxyphenylacet...	ORPHA:2118
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypocalciuria, Nephrolithiasis, Parathormone-independent increased renal tubular...	OMIM:145981
Acetyl-Coa Acetyltransferase-2 Deficiency	Increased circulating lactate concentration, Increased serum pyruvate	OMIM:614055
Neuroleptic Malignant Syndrome	Hypertensive crisis, Acute kidney injury, Hypotension, Hyperphosphatemia, Pulmonary embolism, Hyp...	ORPHA:94093
Iga Nephropathy, Susceptibility To, 1	Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematur...	OMIM:161950
Intracranial Hypertension, Idiopathic	Hypertension	OMIM:243200
Idiopathic Non-Lupus Full-House Nephropathy	Acute kidney injury, Elevated circulating creatinine concentration, Abnormal glomerular mesangium...	ORPHA:567544
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Premature adrenarche, Renal salt wasting, Hyperkalemia, Abnormal circulating dehydroepiandrostero...	ORPHA:90794
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Hyperaldosteronism, Adrenal hyperplasia, Nephrolithiasis, Hypokalemia, Abnormal circulating renin...	ORPHA:369929
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Lactic acidosis, Metabolic acidosis, Dicarboxyl...	OMIM:615026
Helix Syndrome	Hypermagnesemia, Hyperparathyroidism, Hypocalciuria, Renal insufficiency, Nephrolithiasis, Hypoka...	OMIM:617671
Birk-Landau-Perez Syndrome	Renal hypoplasia, Hyperechogenic kidneys, Stage 3 chronic kidney disease, Renal insufficiency, In...	OMIM:617595
Myopathy, Isolated Mitochondrial, Autosomal Dominant	Increased circulating lactate concentration, Elevated circulating creatine kinase concentration	OMIM:616209
Malignant Hyperthermia, Susceptibility To, 4	Acidosis	OMIM:600467
Combined Oxidative Phosphorylation Deficiency 52	Aminoaciduria, Increased circulating lactate concentration, Hypertrophic cardiomyopathy, Hypergly...	OMIM:619386
Abdominal Obesity-Metabolic Syndrome 1	Hypertension	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Hypertension	OMIM:605572
Cystinosis, Nephropathic	Decreased circulating carnitine concentration, Metabolic acidosis, Hematuria, Hypophosphatemia, E...	OMIM:219800
3-Hydroxyisobutyric Aciduria	Aminoaciduria, Episodic ketoacidosis, Lactic acidosis, Ketoacidosis	OMIM:236795
Coronary Artery Disease, Autosomal Dominant 2	Increased LDL cholesterol concentration, Hypertension, Hypertriglyceridemia, Sudden cardiac death...	OMIM:610947
Infantile Nephropathic Cystinosis	Aminoaciduria, Acidosis, Glycosuria, Low-molecular-weight proteinuria, Abnormality of thyroid phy...	ORPHA:411629
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Goiter, Decreased thyroid-stimulating hormone level, Hypokalemia, Increased circulating free T4 c...	OMIM:613239
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia	OMIM:613345
Focal Segmental Glomerulosclerosis 1	Hypoalbuminemia, Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Stage 5 chronic kidn...	OMIM:603278
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Midshaft hypospadias, Elevated circulating luteinizing hormone level, Abnormal circulating choles...	ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Midshaft hypospadias, Elevated circulating luteinizing hormone level, Abnormal circulating choles...	ORPHA:289548
Romano-Ward Syndrome	Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Hypokalemia, Syncope, Ventricular arrhyth...	ORPHA:101016
Mitochondrial Complex I Deficiency, Nuclear Type 24	Increased circulating lactate concentration	OMIM:618245
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Premature adrenarche, Increased urinary 11-deoxycorticosterone level, Precocious puberty, Long pe...	ORPHA:90795
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephro...	OMIM:600740
Cholera	Acidosis, Acute kidney injury, Lactic acidosis, Hypocalcemia, Hypokalemia, Hyponatremia, Decrease...	ORPHA:173
Distal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease...	ORPHA:18
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Recurrent urinary tract infections, Elevated circulating creatinine concentration, Stage 5 chroni...	OMIM:613095
Neurodevelopmental Disorder With Language Delay And Seizures	Hypothyroidism, Hypomagnesemia	OMIM:619908
Combined Oxidative Phosphorylation Deficiency 44	Hypertrophic cardiomyopathy, Increased circulating lactate concentration	OMIM:618855
Trimethylaminuria	Tachycardia, Trimethylaminuria, Hypertension	OMIM:602079
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Increased circulating lactate concentration, Congestive heart failure, Decreased plasma free carn...	OMIM:619048
Familial Hyperaldosteronism Type I	Secretory adrenocortical adenoma, Dexamethasone-suppressible primary hyperaldosteronism, Adrenal ...	ORPHA:403
Pituitary Adenoma 4, Acth-Secreting	Alkalosis, Pituitary adenoma, Increased circulating ACTH level, Nephrolithiasis, Hypokalemia	OMIM:219090
Lipoyltransferase 1 Deficiency	Increased circulating lactate concentration, Increased total bilirubin, Lactic acidosis, Bradycar...	OMIM:616299
Intellectual Developmental Disorder, Autosomal Recessive 1	Increased circulating lactate concentration	OMIM:249500
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Cardiomyopathy, Increased level of methylsuccin...	ORPHA:26792
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To	Increased level of L-pyroglutamic acid in urine, Metabolic acidosis	OMIM:231900
Addison Disease	Thymoma, Type I diabetes mellitus, Androgen insufficiency, Adrenal calcification, Increased circu...	ORPHA:85138
Blue Diaper Syndrome	Nephrocalcinosis, Hyperphosphatemia, Metabolic acidosis, Blue urine, Hypercalcemia	ORPHA:94086
Isolated Glycerol Kinase Deficiency	Metabolic acidosis, Elevated circulating creatine kinase concentration	ORPHA:408
Hyperparathyroidism, Neonatal Severe	Aminoaciduria, Elevated circulating parathyroid hormone level, Hyperphosphaturia, Hypophosphatemi...	OMIM:239200
Renal Glucosuria	Enuresis nocturna, Glycosuria, Polyuria	OMIM:233100
Orthostatic Hypotension 1	Hypomagnesemia, Increased blood urea nitrogen, Nocturia, Elevated circulating dihydroxyphenylacet...	OMIM:223360
Fanconi Renotubular Syndrome 3	Aminoaciduria, Glycosuria, Elevated circulating creatinine concentration, Low-molecular-weight pr...	OMIM:615605
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia	OMIM:170400
Methylmalonyl-Coa Epimerase Deficiency	Elevated circulating palmitoleylcarnitine concentration, Methylmalonic aciduria, Ketonuria, Metab...	OMIM:251120
Congenital Isolated Acth Deficiency	Hyponatremia, Hypotension	ORPHA:199296
Gitelman Syndrome	Type II diabetes mellitus, Parathyroid adenoma, Urinary incontinence, Tubulointerstitial nephriti...	ORPHA:358
Familial Glucocorticoid Deficiency	Hypotension, Hypernatriuria, Recurrent urinary tract infections, Hypertrophic cardiomyopathy, Hyp...	ORPHA:361
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal...	OMIM:611555
Morbid Obesity And Spermatogenic Failure	Congestive heart failure, Decreased HDL cholesterol concentration, Increased LDL cholesterol conc...	OMIM:615703
Senior-Loken Syndrome 4	Stage 5 chronic kidney disease, Nephronophthisis, Polyuria	OMIM:606996
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Dilated cardiomyopathy, Ketoacidosis, Elevated serum anion gap, Lactic acidosis, Hyperammonemia, ...	OMIM:618120
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased circul...	ORPHA:90793
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Increased circulating lactate concentration, Hypertrophic cardiomyopathy, Lactic acidosis, Cyanos...	ORPHA:91130
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Graves disease, Urinary retention, Hypomagnesemia, Decreased urinary potass...	ORPHA:79102
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos...	OMIM:308990
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Acute kid...	ORPHA:567548
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Nephrogenic diabetes insipidus, Megacystis, Polyuria, Hypernatremia	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Megacystis, Diabetes insipidus, Polyuria, Hypernatremia	OMIM:304800
Mitochondrial Pyruvate Carrier Deficiency	Increased circulating lactate concentration, Increased serum pyruvate, Organic aciduria, Lactic a...	OMIM:614741
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Adrenocortical adenoma, Mildly elevated creatine kinase	ORPHA:681
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Increased circulating lactate concentration, Elevated circulating sebacic acid concentration, Ele...	OMIM:615160
Polycystic Kidney Disease 5	Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduced renal corticomedullary differenti...	OMIM:617610
Cryoglobulinemia, Familial Mixed	Chronic kidney disease, Elevated circulating creatinine concentration, Proteinuria, Hematuria, Hy...	OMIM:123550
N-Acetylglutamate Synthase Deficiency	Alkalosis, Hyperammonemia, Hyperglutamatemia, Hyperglutaminemia, Low plasma citrulline, Hyperalan...	OMIM:237310
Dihydrolipoamide Dehydrogenase Deficiency	Ketoacidosis, Hypertrophic cardiomyopathy, Lactic acidosis, Metabolic acidosis, Increased serum p...	OMIM:246900
Exercise-Induced Malignant Hyperthermia	Acute kidney injury, Oliguria, Hyperphosphatemia, Hypotension, Abnormal pulse pressure, Sinus tac...	ORPHA:466650
Snakebite Envenomation	Epistaxis, Hypotension, Cardiogenic shock, Cerebral ischemia, Hyponatremia, Tachycardia, Intracra...	ORPHA:449285
Galactosemia I	Increased level of galactitol in red blood cells, Aminoaciduria, Galactosuria, Metabolic acidosis...	OMIM:230400
Combined Oxidative Phosphorylation Deficiency 9	Increased circulating lactate concentration, Elevated serum anion gap, Ketoacidosis, Hypertrophic...	OMIM:614582
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome	Lactic acidosis, Decreased circulating ferritin concentration	ORPHA:330054
Pyruvate Dehydrogenase E1-Beta Deficiency	Lactic acidosis, Hyperammonemia	OMIM:614111
Combined Oxidative Phosphorylation Deficiency 28	Increased circulating lactate concentration, Increased serum pyruvate, Congestive heart failure, ...	OMIM:616794
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Elevated circulating parathyroid hormone level, Nephrolithiasis, Parathyroid h...	OMIM:617994
Mitochondrial Trifunctional Protein Deficiency 2	Increased circulating lactate concentration, Hypotension, Dilated cardiomyopathy, Tricuspid regur...	OMIM:620300
C3 Glomerulopathy	Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Elevated...	ORPHA:329918
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hyponatremia, Hypotension	ORPHA:91354
Glycogen Storage Disease Xi	Increased circulating lactate concentration, Renal insufficiency, Elevated circulating creatine k...	OMIM:612933
2P21 Microdeletion Syndrome	Cystinuria, Hypocalcemia, Lactic acidosis, Nephrolithiasis	ORPHA:163693
Hemorrhagic Fever-Renal Syndrome	Chronic kidney disease, Hyperphosphatemia, Hematuria, Glomerulonephritis, Tubulointerstitial neph...	ORPHA:340
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:175500
Autosomal Dominant Hypocalcemia	Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypercalciuria, Hypermagnesiuria	ORPHA:428
Nephronophthisis 3	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico...	OMIM:604387
Combined Oxidative Phosphorylation Deficiency 16	Hypertrophic cardiomyopathy, Increased circulating lactate concentration	OMIM:615395
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia, Proteinuria, Nephrotic syndrome, Increased circulating lactate concentration	OMIM:614652
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypermagnesemia, Hypocalciuria, Hypomagnesiuria, Nephrolithiasis, Paratho...	ORPHA:405
Uremic Pruritus	Renal hypophosphatemia, Hypermagnesemia, Chronic kidney disease, Stage 5 chronic kidney disease, ...	ORPHA:94059
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Respiratory alkalosis, Hyperammonemia, Low plasma citrulline, Hypoargininemia, Episodic ammonia i...	OMIM:237300
Generalized Glucocorticoid Resistance Syndrome	Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis...	ORPHA:786
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia, Hyperthyroidism, Goiter	OMIM:188580
Isovaleric Acidemia	Metabolic acidosis	ORPHA:33
Nephronophthisis 9	Stage 5 chronic kidney disease, Nephronophthisis, Polyuria, Renal cortical microcysts	OMIM:613824
Refractory Celiac Disease	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia	ORPHA:398063
Proximal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypernatriuria, Low-molecular-weight proteinuria, Bi...	ORPHA:47159
Pheochromocytoma--Islet Cell Tumor Syndrome	Elevated urinary norepinephrine level, Congestive heart failure, Positive regitine blocking test,...	OMIM:171420
Mitochondrial Myopathy With Lactic Acidosis	Increased circulating lactate concentration, Increased serum pyruvate, Elevated serum anion gap, ...	OMIM:251950
Kenny-Caffey Syndrome, Type 1	Congenital hypoparathyroidism, Hypocalcemia, Hypomagnesemia	OMIM:244460
Combined Oxidative Phosphorylation Deficiency 24	Focal segmental glomerulosclerosis, Increased circulating lactate concentration, Metabolic alkalo...	OMIM:616239
Pearson Syndrome	Elevated lactate:pyruvate ratio, Increased circulating lactate concentration, Glycosuria, Hypomag...	ORPHA:699
Nephronophthisis 1	Nephronophthisis, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Renal...	OMIM:256100
Senior-Loken Syndrome 1	Nephronophthisis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ...	OMIM:266900
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hypertension	OMIM:166990
Acute Peripheral Arterial Occlusion	Acidosis, Abnormal capillary physiology, Supraventricular tachycardia, Abnormality of venous phys...	ORPHA:90064
Amyloidosis, Hereditary Systemic 2	Nephropathy, Renal amyloidosis, Proteinuria, Hematuria, Nephrotic syndrome, Hypertension	OMIM:105200
Coproporphyria, Hereditary	Elevated urinary coproporphyrin level, Increased urinary porphobilinogen, Elevated urinary delta-...	OMIM:121300
Phosphoribosylpyrophosphate Synthetase Superactivity	Cardiomyopathy, Renal insufficiency, Hyperuricemia, Arrhythmia, Hypertension	ORPHA:3222
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant	Hypertrophic cardiomyopathy, Lactic acidosis, Organic aciduria	OMIM:617184
Citrullinemia, Classic	Respiratory alkalosis, Oroticaciduria, Hyperammonemia, Hyperglutaminemia, Hypoargininemia, Elevat...	OMIM:215700
Hyperaldosteronism, Familial, Type I	Abnormality of the urinary system, Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating...	OMIM:103900
Denys-Drash Syndrome	Nephropathy, Nephroblastoma, Proteinuria, Nephrotic syndrome, Hypertension	ORPHA:220
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Increased circulating lactate concentration, Mildly elevated creatine kinase	ORPHA:457050
Hsd10 Mitochondrial Disease	Hypertrophic cardiomyopathy, Metabolic acidosis, Lactic acidosis, Elevated circulating tiglylglyc...	OMIM:300438
Combined Oxidative Phosphorylation Deficiency 38	Increased circulating lactate concentration, Hypertrophic cardiomyopathy, Lactic acidosis, Hypera...	OMIM:618378
Pyruvate Dehydrogenase E3 Deficiency	Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid...	ORPHA:2394
Mirage Syndrome	Microphallus, Recurrent urinary tract infections, Hyponatremia, Intracranial hemorrhage, Hyperkal...	OMIM:617053
Pyruvate Carboxylase Deficiency	Increased circulating lactate concentration, Lactic acidosis, Hyperalaninemia, Proximal renal tub...	OMIM:266150
Citrullinemia Type I	Respiratory alkalosis, Elevated plasma citrulline, Hyperammonemia	ORPHA:247525
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Stage 5 chronic kidne...	OMIM:612925
Cardiomyopathy, Dilated, 2C	Pulmonary arterial hypertension, Reduced left ventricular ejection fraction, Increased circulatin...	OMIM:618189
Mitochondrial Myopathy, Infantile, Transient	Increased circulating lactate concentration, Decreased circulating carnitine concentration, Lacti...	OMIM:500009
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
Gracile Syndrome	Increased circulating ferritin concentration, Lactic acidosis, Renal Fanconi syndrome, Elevated h...	ORPHA:53693
Cardiogenic Shock	Mitral regurgitation, Metabolic acidosis, Arrhythmia, Elevated jugular venous pressure, ST segmen...	ORPHA:97292
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri...	OMIM:612924
Necrotizing Enterocolitis	Acidosis, Hypotension, Increased circulating lactate concentration, Shock, Metabolic acidosis, Hy...	ORPHA:391673
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Aminoaciduria, Nephrocalcinosis, Glycosuria, Hyperphosphaturia, Metabolic acidosis,...	OMIM:616026
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Aminoaciduria, Acidosis	OMIM:204730
Spasticity, Childhood-Onset, With Hyperglycinemia	Increased circulating lactate concentration, Hyperglycinemia	OMIM:616859
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2	Lacunar stroke, Transient ischemic attack, Hypertension	OMIM:616779
Mitochondrial Complex I Deficiency, Nuclear Type 13	Acidosis, Decreased circulating carnitine concentration, Hypertrophic cardiomyopathy, Metabolic a...	OMIM:618235
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased circulating lactate concentration, Cardiomyopathy, Lactic acidosis, Metabolic acidosis,...	OMIM:619046
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hypoalbuminemia, Nephrotic syndrome, Type I diabetes mellitus, Hypomagnesemia, Hypocalcemia, Decr...	ORPHA:37042
Sulfite Oxidase Deficiency, Isolated	Sulfocysteinuria, Decreased urinary sulfate, Metabolic acidosis, Elevated circulating creatine ki...	OMIM:272300
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Increased circulating lactate concentration, Hyperammonemia, Metabolic acidosis	OMIM:620137
Lysosomal Acid Lipase Deficiency	Acidosis, Hypotension, Hypernatriuria, Abnormal urine potassium concentration, Hyponatremia, Pulm...	ORPHA:275761
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased circulating lactate concentration, Chronic lactic acidosis, Lactic acidosis, Metabolic ...	OMIM:312170
Hydroxykynureninuria	Hypotension, Abnormal circulating tryptophan concentration, Renal tubular acidosis, Metabolic aci...	ORPHA:79155
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, Increased circulating an...	OMIM:202010
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Increased circulating lactate concentration, Renal insufficiency, Elevated circulating creatine k...	ORPHA:2364
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Microphallus, Hyponatremia, Penoscrotal hypospadias, Micropenis, Perineal hypospadias, Hyperkalem...	OMIM:201810
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Increased circulating lactate concentration, Hypertrophic cardiomyopathy, Tricuspid regurgitation...	OMIM:619051
Hypouricemia, Renal, 1	Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati...	OMIM:220150
Adenine Phosphoribosyltransferase Deficiency	Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract...	ORPHA:976
Hawkinsinuria	Metabolic acidosis, Hawkinsinuria, 4-Hydroxyphenylpyruvic aciduria, Hypertyrosinemia, 4-hydroxyph...	OMIM:140350
Non-Functioning Paraganglioma	Elevated urinary dopamine level, Elevated urinary norepinephrine level, Sinus tachycardia, Conges...	ORPHA:94080
Alport Syndrome 3A, Autosomal Dominant	Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph...	OMIM:104200
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Respiratory alkalosis, Oroticaciduria, Hyperammonemia, Hyperglutaminemia, Low plasma citrulline, ...	OMIM:311250
Primary Hyperoxaluria Type 1	Nephrocalcinosis, Enuresis, Recurrent urinary tract infections, Decreased glomerular filtration r...	ORPHA:93598
Combined Oxidative Phosphorylation Deficiency 10	Increased circulating lactate concentration, Hypertrophic cardiomyopathy, Lactic acidosis, Hypera...	OMIM:614702
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Hypertension, Decreased circulating renin level	OMIM:605115
Preeclampsia	Chronic kidney disease, Elevated systolic blood pressure, Acute kidney injury, Elevated diastolic...	ORPHA:275555
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Increased serum pyruvate, Hyperalaninemia, Lactic acidosis, Metabolic acidosis	OMIM:245349
Argininosuccinic Aciduria	Aminoaciduria, Respiratory alkalosis, Oroticaciduria, Hyperammonemia, Increased circulating argin...	OMIM:207900
Dent Disease 2	Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig...	OMIM:300555
Aapoaiv Amyloidosis	Chronic kidney disease, Atrial fibrillation, Renal amyloidosis, Atrial flutter, Hypertrophic card...	ORPHA:439232
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Maturity-onset diabetes of the young, Abnormal circulating biopterin concentration, Hypomagnesemi...	ORPHA:1578
Central Diabetes Insipidus	Hyponatremia	ORPHA:178029
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia, Increased circulating lactate concentration, Second degree atrioventricular bloc...	OMIM:617021
Gaisböck Syndrome	Nephrocalcinosis, Hypernatriuria, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hype...	ORPHA:90041
Mercury Poisoning	Hypokalemia, Acute kidney injury	ORPHA:330021
Combined Oxidative Phosphorylation Deficiency 43	Increased circulating lactate concentration, Elevated circulating creatine kinase concentration	OMIM:618851
Hereditary Fructose Intolerance	Chronic kidney disease, Hypermagnesemia, Renal insufficiency, Hyperuricemia, Metabolic acidosis, ...	ORPHA:469
Rhabdoid Tumor	Hypercalcemia, Hematuria, Internal hemorrhage, Renal neoplasm, Hypertension	ORPHA:69077
Multiple Mitochondrial Dysfunctions Syndrome 5	Increased circulating lactate concentration, Elevated circulating creatine kinase concentration	OMIM:617613
Pheochromocytoma/Paraganglioma Syndrome 6	Hypertension	OMIM:618464
Combined Malonic And Methylmalonic Acidemia	Acidosis, Ketoacidosis, Methylmalonic aciduria, Dicarboxylic aciduria, Dicarboxylic acidemia, Met...	ORPHA:289504
Arterial Calcification, Generalized, Of Infancy, 2	Nephrocalcinosis, Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regur...	OMIM:614473
Combined Oxidative Phosphorylation Deficiency 30	Increased circulating lactate concentration, Lactic acidosis, Hyperalaninemia, Elevated lactate:p...	OMIM:616974
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Increased circulating lactate concentration, Lactic acidosis, Hyperammonemia, Elevated circulatin...	OMIM:618416
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertension, Hypertriglyceridemia	ORPHA:71529
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia	ORPHA:90362
Lessel-Kubisch Syndrome	Hypertension, Renal hypoplasia, Renal insufficiency	OMIM:618681
Glucocorticoid Resistance, Generalized	Increased circulating cortisol level, Increased circulating ACTH level, Increased circulating and...	OMIM:615962
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Increased circulating lactate concentration, Dilated cardiomyopathy, Congestive heart failure, Hy...	ORPHA:1349
Methanol Poisoning	Permanent atrial fibrillation, Inflammatory arteriopathy, Hyperlipidemia, Metabolic acidosis, Cer...	ORPHA:31825
Mitochondrial Complex I Deficiency, Nuclear Type 26	Elevated lactate:pyruvate ratio, Increased circulating lactate concentration, Metabolic acidosis,...	OMIM:618247
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Increased circulating lactate concentration, Ketonuria, Ketoacidosis, Episodic ketoacidosis, Lact...	OMIM:615453
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Increased circulating lactate concentration, Elevated circulating creatine kinase concentration	OMIM:617069
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Increased circulating lactate concentration, Increased serum pyruvate	OMIM:545000
Combined Oxidative Phosphorylation Deficiency 8	Increased circulating lactate concentration, Congestive heart failure, Hypertrophic cardiomyopath...	OMIM:614096
Lipodystrophy, Familial Partial, Type 5	Diabetic ketoacidosis, Hypertension, Increased C-peptide level, Hypertriglyceridemia	OMIM:615238
Infant Botulism	Hyponatremia, Cardiac arrest, Hypotension, Hypertension	ORPHA:178478
Supravalvular Aortic Stenosis	Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart...	ORPHA:3193
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Hypocalcemia, Hypokalem...	OMIM:617913
Mitochondrial Complex I Deficiency, Nuclear Type 4	Increased circulating lactate concentration, Increased serum pyruvate, Metabolic acidosis	OMIM:618225
Infection-Related Hemolytic Uremic Syndrome	Hypertensive crisis, Acute kidney injury, Oliguria, Anuria, Hypocalcemia, Hyponatremia, Decreased...	ORPHA:544482
Combined Oxidative Phosphorylation Deficiency 23	Increased circulating lactate concentration, Dilated cardiomyopathy, Congestive heart failure, Hy...	OMIM:616198
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Increased circulating lactate concentration, Hyperglycinemia, Lacticaciduria	OMIM:619063
Combined Oxidative Phosphorylation Deficiency 31	Hypertrophic cardiomyopathy, Increased circulating lactate concentration, Lactic acidosis, Hypera...	OMIM:617228
Malonyl-Coa Decarboxylase Deficiency	Elevated urine suberic acid level, Dilated cardiomyopathy, Methylmalonic aciduria, Left ventricul...	OMIM:248360
Nelson Syndrome	Increased circulating cortisol level, Increased circulating prolactin concentration, Pituitary ca...	ORPHA:199244
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Hyperkalemia	ORPHA:90790
Nephronophthisis 4	Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia...	OMIM:606966
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia, Hypertension	ORPHA:2111
Multiple Mitochondrial Dysfunctions Syndrome 3	Lactic acidosis, Hyperglycinemia, Metabolic acidosis, Beta-aminoisobutyric aciduria, Elevated lac...	OMIM:615330
Combined Oxidative Phosphorylation Deficiency 5	Increased circulating lactate concentration, Hypertrophic cardiomyopathy, Lactic acidosis, Hypera...	OMIM:611719
Posttransplant Acute Limbic Encephalitis	Hyponatremia	ORPHA:163921
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hyperkalemia, Conjugated hyperbilirubinemia	OMIM:608885
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Aminoaciduria, Lactic acidosis, Elevated circulating creatine kinase concentration	OMIM:609560
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating free fatty acid level, Elevated urinary 3-hydroxybutyric acid, Ketonuria, D...	OMIM:605911
Leprechaunism	Nephrocalcinosis, Long penis, Central hypothyroidism, Hyperaldosteronism, Hyperinsulinemia, Hypok...	ORPHA:508
Encephalopathy, Ethylmalonic	Elevated circulating butyrylcarnitine concentration, Lactic acidosis, Acrocyanosis, Ethylmalonic ...	OMIM:602473
3-Methylglutaconic Aciduria Type 4	Cardiomyopathy, Lactic acidosis, 3-Methylglutaconic aciduria	ORPHA:67048
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Type I diabetes mellitus, Proximal tubulopathy, Polyuria	OMIM:560000
Pyridoxal Phosphate-Responsive Seizures	Increased circulating lactate concentration, Abnormal circulating arginine concentration, Abnorma...	ORPHA:79096
Hsd10 Disease, Infantile Type	Increased circulating lactate concentration, Hypertrophic cardiomyopathy, Lactic acidosis, Hypera...	ORPHA:391428
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, H...	OMIM:174000
Osteootohepatoenteric Syndrome	Hypokalemia, Proteinuria, Grade II vesicoureteral reflux, Increased serum bile acid concentration	OMIM:619377
Developmental And Epileptic Encephalopathy 53	Increased circulating lactate concentration, Elevated circulating creatine kinase concentration	OMIM:617389
Melorheostosis With Osteopoikilosis	Hypertension	ORPHA:1879
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary 3-hydroxyisobutyric acid level, Increased circulating lactate concentration, Ele...	OMIM:614105
Combined Oxidative Phosphorylation Deficiency 4	Increased circulating lactate concentration, Lactic acidosis, Hyperammonemia, Metabolic acidosis	OMIM:610678
Mitochondrial Complex I Deficiency, Nuclear Type 30	Metabolic acidosis, Congestive heart failure	OMIM:301021
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Cerebral vasculitis	ORPHA:83601
Acetyl-Coa Carboxylase-Alpha Deficiency	Increased circulating lactate concentration	OMIM:613933
Familial Isolated Hyperparathyroidism	Nephrocalcinosis, Elevated circulating parathyroid hormone level, Renal insufficiency, Hyperphosp...	ORPHA:99879
Mitochondrial Complex I Deficiency, Nuclear Type 11	Increased circulating lactate concentration, Congestive heart failure, Hypertrophic cardiomyopath...	OMIM:618234
Hereditary Coproporphyria	Hyponatremia, Tachycardia, Abnormal circulating porphyrin concentration	ORPHA:79273
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Increased circulating lactate concentration, Abnormal circulating pyruvate family amino acid conc...	ORPHA:255182
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hyperparathyroidism, Nephrocalcinosis, Renal tubular acidosis, Hypercalciuria, Hypercalcemia	OMIM:239199
Multiple Mitochondrial Dysfunctions Syndrome 1	Increased urine alpha-ketoglutarate concentration, Hyperglycinuria, Increased circulating lactate...	OMIM:605711
Sengers Syndrome	Increased circulating lactate concentration, Exercise-induced lactic acidemia, Hypertrophic cardi...	OMIM:212350
Mitochondrial Complex I Deficiency, Nuclear Type 29	Increased circulating lactate concentration, Hypertrophic cardiomyopathy, Stage 5 chronic kidney ...	OMIM:618250
Dihydropyrimidinase Deficiency	Elevated circulating thymine concentration, Elevated urinary thymine level, Elevated urinary dihy...	OMIM:222748
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Congestive heart failure, Lactic acidosis, Arrhythmia, Wolff-Parkinson-White syndrome, Abnormal l...	OMIM:540000
Fanconi Renotubular Syndrome 2	Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Elevated circulating pa...	OMIM:613388
D-Glyceric Aciduria	Hyperglycinuria, Increased circulating free fatty acid level, Hyperglycinemia, Metabolic acidosis...	ORPHA:941
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating creatinine concentration, Increased circulating lactate concentration, Lacti...	OMIM:617872
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Increased circulating lactate concentration, Increased serum pyruvate, Hyperalaninemia, Lactic ac...	OMIM:617668
Primary Hyperoxaluria	Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Arterial occlusion,...	ORPHA:416
Hypotonia-Cystinuria Syndrome	Increased circulating lactate concentration, Cystine crystalluria, Lactic acidosis, Hypocalcemia,...	OMIM:606407
Isovaleric Acidemia	Hyperglycinuria, Ketoacidosis, Metabolic acidosis, Cerebellar hemorrhage, Elevated urinary isoval...	OMIM:243500
Lactic Acidosis, Chronic Adult Form	Chronic lactic acidosis, Hyperuricemia	OMIM:150170
Senior-Loken Syndrome 3	Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Enuresis	OMIM:606995
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	3-Methylglutaric aciduria, Glutaric aciduria, Increased circulating lactate concentration, Decrea...	OMIM:246450
Combined Oxidative Phosphorylation Deficiency 20	Hypertrophic cardiomyopathy, Lactic acidosis, Hyperalaninemia	OMIM:615917
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hypertrophic cardiomyopathy, Intermittent lactic acidemia, Hyperlipidemia, Proteinuria, Abnormali...	ORPHA:369
Pheochromocytoma	Elevated urinary norepinephrine level, Congestive heart failure, Positive regitine blocking test,...	OMIM:171300
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hypokalemia, Hyponatr...	ORPHA:90038
Brachydactyly-Arterial Hypertension Syndrome	Hypertension	ORPHA:1276
Lethal Infantile Mitochondrial Myopathy	Renal insufficiency, Cardiomyopathy, Severe lactic acidosis	ORPHA:254857
Lipoid Congenital Adrenal Hyperplasia	Congenital adrenal hyperplasia, Renal salt wasting, Adrenogenital syndrome, Hypospadias	OMIM:201710
Combined Oxidative Phosphorylation Deficiency 6	Increased circulating lactate concentration, Increased serum pyruvate	OMIM:300816
Glutaric Acidemia Type 3	Glutaric aciduria, Ketoacidosis, Elevated circulating glutaric acid concentration, Ketonuria, Abn...	ORPHA:35706
Senior-Loken Syndrome	Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis, Hypertension	ORPHA:3156
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Chronic kidney disease, Increased circulating lactate concentration, Cardiomyopathy, Renal tubula...	ORPHA:324525
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Increased circulating lactate concentration, Lactic acidosis, Hyperammonemia, 3-Methylglutaconic ...	OMIM:614739
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Elevated lactate:pyruvate ratio, Increased circulating lactate concentration, Lactic acidosis, Se...	OMIM:616111
Renal Tubular Acidosis, Proximal	Elevated circulating creatinine concentration, Hypercalciuria, Hyperchloremic acidosis, Proximal ...	OMIM:179830
Heme Oxygenase 1 Deficiency	Nephritis, Diffuse alveolar hemorrhage, Epistaxis, Increased circulating ferritin concentration, ...	OMIM:614034
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Increased circulating lactate concentration, Lactic acidosis, Hyperglycinemia, Pulmonary arterial...	OMIM:619059
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Nephropathy, Aminoaciduria, Nephrocalcinosis, Glycosuria, Renal tubular acidosis, Metabolic acido...	OMIM:613404
Rabson-Mendenhall Syndrome	Precocious puberty, Nephrocalcinosis, Long penis, Insulin-resistant diabetes mellitus, Fasting hy...	ORPHA:769
Coenzyme Q10 Deficiency, Primary, 5	Increased circulating lactate concentration, Lactic acidosis, Hyperalaninemia, Bradycardia	OMIM:614654
Pyloric Stenosis, Infantile Hypertrophic, 1	Hypochloremic metabolic alkalosis	OMIM:179010
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hyperglycinuria, Decreased circulating carnitine concentration, Medium chain dicarboxylic aciduri...	OMIM:201450
Hypertension And Brachydactyly Syndrome	Hypertension	OMIM:112410
Bardet-Biedl Syndrome 17	Hypogonadism, Stage 5 chronic kidney disease, Renal cyst, Polyuria, Micropenis	OMIM:615994
Glucose/Galactose Malabsorption	Glycosuria, Metabolic acidosis	OMIM:606824
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Increased circulating lactate concentration, Renal hypoplasia, Ketonuria, Hypertrophic cardiomyop...	OMIM:619053
Beta-Ketothiolase Deficiency	Acidosis, Increased circulating lactate concentration, Hypotension, Ketonuria, Ketoacidosis, Hype...	ORPHA:134
2,4-Dienoyl-Coa Reductase Deficiency	Hyperlysinuria, Increased circulating lactate concentration, Elevated circulating 2-trans,4-cis-d...	OMIM:616034
Fanconi-Bickel Syndrome	Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Glycosuria, Renal tubular acidosis, Hyp...	ORPHA:2088
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Increased circulating lactate concentration, Metabolic acidosis	OMIM:610090
Alagille Syndrome 2	Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Proteinuria, Renal cyst, Hematuria...	OMIM:610205
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Elevated circulating parathyroid hormone level, Low urinary cyclic AMP respons...	OMIM:603233
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,...	OMIM:310468
Glycogen Storage Disease Ixa1	Lactic acidosis, Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia	OMIM:306000
3-Methylglutaconic Aciduria, Type I	Urinary incontinence, Metabolic acidosis, 3-Methylglutaconic aciduria	OMIM:250950
Hyperoxaluria, Primary, Type I	Nephrocalcinosis, Atrioventricular block, Arterial occlusion, Hyperoxaluria, Renal insufficiency,...	OMIM:259900
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Nephropathy, Nephrotic syndrome, Hypertension, Proteinuria	ORPHA:1192
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythmia, Hypertension	ORPHA:1345
Coenzyme Q10 Deficiency, Primary, 8	Hypertension, Elevated circulating creatinine concentration, Abnormal renal corticomedullary diff...	OMIM:616733
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Lactic acidosis, Reduced systolic function, Dilated cardiomyopathy	OMIM:618805
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertriglyceri...	OMIM:618620
Mitochondrial Complex I Deficiency, Nuclear Type 15	Hypertrophic cardiomyopathy, Increased circulating lactate concentration, Metabolic acidosis	OMIM:618237
Intellectual Developmental Disorder, Autosomal Dominant 70	Hyponatremia, Retinal telangiectasia	OMIM:620157
Propionic Acidemia	Hyperglycinuria, Increased level of hippuric acid in urine, Cardiomyopathy, Lactic acidosis, Hype...	OMIM:606054
Legionnaires Disease	Hypotension, Hyponatremia, Arrhythmia, Myocarditis, Pericarditis	ORPHA:549
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Aminoaciduria, Proximal tubulopathy, Lactic acidosis, Severe lactic acidosis	OMIM:612075
Scorpion Envenomation	Acute kidney injury, Ketonuria, Glycosuria, Respiratory alkalosis, Hypokalemia, Increased circula...	ORPHA:466677
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia, Hypercalciuria	OMIM:612286
Glutathione Synthetase Deficiency	Increased level of L-pyroglutamic acid in urine, Chronic metabolic acidosis	OMIM:266130
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Hyperglycinuria, Decreased circulating carnitine concentration, Ketonuria, Organic aciduria, Keto...	OMIM:210210
Holocarboxylase Synthetase Deficiency	Organic aciduria, Elevated urinary 3-methylcrotonylglycine level, Lactic acidosis, Hyperammonemia...	OMIM:253270
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas...	OMIM:267700
Perrault Syndrome 5	Increased circulating lactate concentration, Increased serum pyruvate, Elevated circulating creat...	OMIM:616138
Alport Syndrome 2, Autosomal Recessive	Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag...	OMIM:203780
Mitochondrial Complex I Deficiency, Nuclear Type 32	Hyponatremia, Increased circulating lactate concentration, Metabolic acidosis	OMIM:618252
Nephronophthisis 18	Thickened glomerular basement membrane, Nephronophthisis, Stage 5 chronic kidney disease, Renal t...	OMIM:615862
Lipodystrophy, Familial Partial, Type 6	Hypertension, Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating crea...	OMIM:615980
Renal Hypoplasia	Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec...	ORPHA:93101
Lipodystrophy, Familial Partial, Type 4	Hypertension, Hypertriglyceridemia	OMIM:613877
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hyperparathyroidism, Renal insufficiency, Proteinuria, Glomerulopathy, Hypercalcemia	ORPHA:2668
Polyarteritis Nodosa	Cardiomyopathy, Raynaud phenomenon, Abnormality of the kidney, Elevated circulating C-reactive pr...	ORPHA:767
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated circulating acylcarnitine concentration, Increased circulating lactate concentration, Ke...	OMIM:616878
Severe X-Linked Mitochondrial Encephalomyopathy	Increased circulating lactate concentration, Increased serum pyruvate	ORPHA:238329
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Elevated circulating tetradecanoylcarnitine concentration, Increased urine alpha-ketoglutarate co...	OMIM:619355
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Increased circulating lactate concentration, Mildly elevated creatine kinase	ORPHA:663
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hypert...	OMIM:618061
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Increased circulating lactate concentration, Elevated circulating creatine kinase concentration	OMIM:617070
Oxoglutarate Dehydrogenase Deficiency	Congenital lactic acidosis, Increased circulating lactate concentration, Metabolic acidosis	OMIM:203740
Small Cell Carcinoma Of The Bladder	Dysuria, Hematuria, Hypercalcemia, Recurrent urinary tract infections	ORPHA:284400
Nephronophthisis 11	Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal...	OMIM:613550
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy	Increased circulating lactate concentration	OMIM:619196
Plin1-Related Familial Partial Lipodystrophy	Hypertension, Hypertriglyceridemia	ORPHA:280356
Tako-Tsubo Cardiomyopathy	Abnormal circulating B-type natriuretic peptide concentration, Mitral regurgitation, Arrhythmia, ...	ORPHA:66529
Mitochondrial Complex I Deficiency, Nuclear Type 6	Increased circulating lactate concentration, Hypertrophic cardiomyopathy, Lactic acidosis, Metabo...	OMIM:618228
Sporadic Pheochromocytoma/Secreting Paraganglioma	Elevated urinary dopamine level, Elevated urinary norepinephrine level, Sinus tachycardia, Conges...	ORPHA:276621
Whipple Disease	Hypotension, Gastrointestinal hemorrhage, Hyponatremia, Myocarditis, Myocardial infarction, Peric...	ORPHA:3452
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec...	ORPHA:730
Maple Syrup Urine Disease, Type Ia	Elevated circulating branched chain amino acid concentration, Increased level of hippuric acid in...	OMIM:248600
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Renal phosphate wasting, Hypophosphatemia, Hyperphosphaturia, Nephrolithiasis	OMIM:612287
Ochoa Syndrome	Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficie...	ORPHA:2704
Combined Oxidative Phosphorylation Deficiency 45	Cardiac arrest, Increased circulating lactate concentration	OMIM:618951
Porphyria Due To Ala Dehydratase Deficiency	Hyponatremia, Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin ...	ORPHA:100924
Multicentric Carpotarsal Osteolysis Syndrome	Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Hypert...	OMIM:166300
Pseudo-Torch Syndrome 3	Acute kidney injury, Increased circulating ferritin concentration, Proteinuria, Cerebral hemorrha...	OMIM:618886
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Increased circulating lactate concentration, De...	ORPHA:99901
Mitochondrial Complex I Deficiency, Nuclear Type 22	Hypertrophic cardiomyopathy, Lactic acidosis, Elevated lactate:pyruvate ratio	OMIM:618243
Sneddon Syndrome	Nephropathy, Intracranial hemorrhage, Hypertension	ORPHA:820
Generalized Pustular Psoriasis	Hypoalbuminemia, Congestive heart failure, Hypocalcemia, Hyponatremia, Elevated circulating C-rea...	ORPHA:247353
Oculocerebrorenal Syndrome Of Lowe	Hematuria, Hypophosphatemia, Proximal renal tubular acidosis, Aminoaciduria, Increased circulatin...	ORPHA:534
Coach Syndrome 2	Elevated circulating creatinine concentration, Hypertension, Hyperechogenic kidneys	OMIM:619111
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Proximal tubulopathy, Transient aminoaciduria, Glycosuria, Hyperbili...	OMIM:229600
Mitochondrial Complex I Deficiency, Nuclear Type 34	Lactic acidosis, Metabolic acidosis	OMIM:618776
Aica-Ribosiduria Due To Atic Deficiency	Hyponatremia	OMIM:608688
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Acute hyperammonemia, 3-hydroxyisovale...	OMIM:210200
Liver Failure, Infantile, Transient	Hypoalbuminemia, Increased circulating lactate concentration, Dicarboxylic aciduria, Hyperbilirub...	OMIM:613070
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Respiratory alkalosis, Oroticaciduria, Abnormal circulating citrulline concentration, Hyperornith...	ORPHA:415
Wolcott-Rallison Syndrome	Hypoalbuminemia, Ketoacidosis, Hyperbilirubinemia, Hyperammonemia, Hyponatremia	ORPHA:1667
Multiple Acyl-Coa Dehydrogenase Deficiency	3-Methylglutaric aciduria, Elevated circulating acylcarnitine concentration, Glutaric aciduria, D...	ORPHA:26791
Amelogenesis Imperfecta, Type Ig	Nephrocalcinosis, Renal insufficiency, Impaired renal concentrating ability, Polyuria, Enuresis	OMIM:204690
Combined Oxidative Phosphorylation Deficiency 3	Increased circulating lactate concentration, Dilated cardiomyopathy, Concentric hypertrophic card...	OMIM:610505
Teratoma, Pineal	Polyuria	OMIM:273120
Sudden Cardiac Failure, Infantile	Congestive heart failure, Hypertrophic cardiomyopathy, Metabolic acidosis, Bradycardia, Myocardit...	OMIM:617222
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, ...	ORPHA:94088
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)	Increased urine alpha-ketoglutarate concentration, Increased circulating lactate concentration, L...	OMIM:614458
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Methylmalonic aciduria, Lactic acidosis, Hyperglycinemia, Lacticaciduria, Hypertaurinemia, Elevat...	OMIM:245400
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Myoglobinuria, Metabolic acidosis	OMIM:602199
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Hypokalemic alkalosis, Adrenogenital syndrome, Adrenal hyperplasia	OMIM:202110
Methylmalonic Aciduria, Cblb Type	Dilated cardiomyopathy, Ketonuria, Methylmalonic aciduria, Elevated circulating propionylcarnitin...	OMIM:251110
Mitochondrial Dna Depletion Syndrome 17	Acidosis, Low plasma citrulline, Hyperammonemia	OMIM:618567
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Ketonuria, Lactic acidosis, Cyanosis, Renal steatosis, Low plasma citrulline	OMIM:261680
Tetanus	Elevated urinary norepinephrine level, Elevated circulating creatine kinase concentration, Bradyc...	ORPHA:3299
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Lactic acidosis, Bradycardia, Micropenis, Hy...	OMIM:618815
Methylmalonic Aciduria, Cbla Type	Ketonuria, Methylmalonic aciduria, Elevated serum anion gap, Hyperglycinemia, Hyperammonemia, Ele...	OMIM:251100
Stiff Skin Syndrome	Hypertension, Abnormal circulating lipid concentration, Nephrolithiasis	ORPHA:2833
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic aciduria, Cardiomyopathy, Stage 5 chronic kidney disease, Hyperglycinemia, Hyperamm...	OMIM:251000
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypertension, Renal salt wasting, Hypospadias	OMIM:201910
Herpes Simplex Virus Encephalitis	Elevated circulating C-reactive protein concentration, Hyponatremia	ORPHA:1930
Combined Oxidative Phosphorylation Deficiency 1	Increased circulating lactate concentration, Metabolic acidosis, Elevated lactate:pyruvate ratio	OMIM:609060
Vipoma	Follicular thyroid carcinoma, Pituitary adenoma, Increased circulating cortisol level, Increased ...	ORPHA:97282
Lipodystrophy, Familial Partial, Type 1	Hypertension, Hypertriglyceridemia	OMIM:608600
Multifocal Atrial Tachycardia	Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ...	ORPHA:3282
Fructose-1,6-Bisphosphatase Deficiency	Neonatal hyperbilirubinemia, Increased urinary glycerol, Intermittent lactic acidemia, Lactic aci...	ORPHA:348
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating acylcarnitine concentration, Red-brown urine, Cardiomyopathy, Dicarboxylic a...	ORPHA:228308
Combined Oxidative Phosphorylation Deficiency 21	Hyperprolinemia, Increased circulating lactate concentration, Hyperalaninemia	OMIM:615918
Combined Oxidative Phosphorylation Deficiency 36	Aciduria, Increased circulating lactate concentration, Hyperalaninemia	OMIM:617950
Glycogen Storage Disease Ic	Focal segmental glomerulosclerosis, Spider hemangioma, Decreased glomerular filtration rate, Lact...	OMIM:232240
Porphyria Variegata	Hyponatremia, Tachycardia, Abnormal circulating porphyrin concentration, Hypertension	ORPHA:79473
Atrial Fibrillation, Familial, 14	Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension	OMIM:615378
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert	Hypertension, Telangiectases producing 'marbled' skin	OMIM:206570
Phenformin 4-Hydroxylation	Lactic acidosis	OMIM:261590
Hyperaldosteronism, Familial, Type Iv	Hypertension	OMIM:617027
Mitochondrial Complex I Deficiency, Nuclear Type 33	Increased circulating lactate concentration, Lactic acidosis, Hyperammonemia, Metabolic acidosis,...	OMIM:618253
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Increased circulating beta-C-terminal telopeptide concentration, Medullary nephrocalcinosis, Hypo...	ORPHA:157215
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Tricuspid regurgitation, Hypertrophic cardiomyopathy, Reduced left ventricu...	OMIM:616501
Isolated Atp Synthase Deficiency	Renal hypoplasia, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Lactic acidosis, Hyperammo...	ORPHA:254913
Adrenal Hypoplasia, Congenital	Precocious puberty, Absence of pubertal development, Adrenal insufficiency, Primary adrenal insuf...	OMIM:300200
Mitochondrial Complex Ii Deficiency, Nuclear Type 4	Increased urine alpha-ketoglutarate concentration, Increased circulating lactate concentration, I...	OMIM:619224
Mitochondrial Complex Iii Deficiency, Nuclear Type 7

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us