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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	Congenital lactic acidosis, Increased circulating lactate concentration, Lactic acidosis, Metabol...	OMIM:615824
Ethylmalonic Encephalopathy	Lactic acidosis, Acrocyanosis, Ethylmalonic aciduria	ORPHA:51188
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Decreased circulating carnitine concentration, Mildly elevated creatine kinase, Severe lactic aci...	ORPHA:254864
Paternal Uniparental Disomy Of Chromosome 1	Proteinuria, Hypertension, Increased blood urea nitrogen, Membranoproliferative glomerulonephriti...	ORPHA:251004
Late-Onset Isolated Acth Deficiency	Hypotension, Hyperuricemia, Hyponatremia, Orthostatic hypotension, Hypercalcemia	ORPHA:199299
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemia, Renal phosphate wasting, Hypophosphatemic rickets	OMIM:193100
Adult Acute Respiratory Distress Syndrome	Vasculitis, Hypotension, Shock, Metabolic acidosis, Abnormal blood gas level, Hypoxemia, Diabetic...	ORPHA:70578
Analbuminemia	Hypoalbuminemia, Hypotension, Increased LDL cholesterol concentration, Elevated circulating trans...	OMIM:616000
Beta-Ureidopropionase Deficiency	Increased circulating lactate concentration, Elevated urinary ureidopropionic acid level, Metabol...	OMIM:613161
Primary Hyperoxaluria Type 3	Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo...	ORPHA:93600
Hereditary Amyloidosis With Primary Renal Involvement	Nephropathy, Gastrointestinal hemorrhage, Abnormal urinary electrolyte concentration, Congestive ...	ORPHA:85450
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Atrioventricular block, Dilated cardiomyopathy, Hype...	ORPHA:26793
Mitochondrial Trifunctional Protein Deficiency 1	Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, Congestive heart failur...	OMIM:609015
Cirrhosis, Familial	Hypertension, Increased level of propylene glycol in blood, Pulmonary arterial hypertension, Incr...	OMIM:215600
Moyamoya Disease With Early-Onset Achalasia	Hypertension, Raynaud phenomenon	ORPHA:401945
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy, Lactic acidosis, Cyanosis, Metabolic acidosis	OMIM:610773
Medullary Sponge Kidney	Hematuria, Distal renal tubular acidosis, Hypercalciuria, Nephrolithiasis	ORPHA:1309
Monocarboxylate Transporter 1 Deficiency	Ketoacidosis, Ketonuria	OMIM:616095
Combined Malonic And Methylmalonic Aciduria	Ketoacidosis, Methylmalonic aciduria	OMIM:614265
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Increased circulating lactate concentration, Oroticaciduria, Lactic acidosis, Hyperglycinemia, Hy...	OMIM:620358
Alg8-Cdg	Hyponatremia	ORPHA:79325
Familial Cervical Artery Dissection	Transient ischemic attack, Cerebral ischemia, Subarachnoid hemorrhage, Recurrent cerebral hemorrh...	ORPHA:36382
Potocki-Shaffer Syndrome	Micropenis, Hypertension, Nephroblastoma	ORPHA:52022
Glutaric Acidemia I	Glutaric aciduria, Metabolic acidosis, Elevated circulating glutaric acid concentration, Ketonuria	OMIM:231670
Posterior Urethral Valve	Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre...	ORPHA:93110
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Nephropathy, Homocystinuria, Acute kidney injury, Cystathioninemia, Hypotension, Methylmalonic ac...	OMIM:277400
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Increased circulating lactate concentration, Hypertrophic cardiomyopathy, Elevated circulating cr...	OMIM:615418
Combined Oxidative Phosphorylation Deficiency 18	Increased circulating lactate concentration, Lactic acidosis, Methylmalonic aciduria	OMIM:615578
Glycogen Storage Disease 0, Liver	Increased circulating lactate concentration	OMIM:240600
Mitochondrial Complex I Deficiency, Nuclear Type 3	Metabolic acidosis	OMIM:618224
Dent Disease	Renal hypophosphatemia, Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerul...	ORPHA:1652
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Lactic acidosis, Hyperl...	OMIM:232200
Juvenile Paget Disease	Hypertension, Hyperuricemia	ORPHA:2801
Familial Dysautonomia	Hyponatremia, Tachycardia, Hypertension, Orthostatic hypotension	ORPHA:1764
Combined Oxidative Phosphorylation Deficiency 17	Hypertrophic cardiomyopathy, Lactic acidosis, Congestive heart failure	OMIM:615440
Hypoparathyroidism, Familial Isolated, 2	Decreased circulating parathyroid hormone level, Hypocalcemic seizures, Hyperphosphatemia, Hypoca...	OMIM:618883
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Increased circulating lactate concentration, Congestive heart failure, Hypertrophic cardiomyopath...	ORPHA:70472
Coenzyme Q10 Deficiency, Primary, 2	Aortic regurgitation, Increased circulating lactate concentration, Mitral regurgitation, Pulmonar...	OMIM:614651
Alopecia Universalis	Hypertension, Abnormal circulating lipid concentration	ORPHA:701
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Hyperaldosteronism, Renal salt wasting, Adrenal insufficiency, Adrenocorticotropic hormone excess	OMIM:613743
Hypophosphatemic Rickets And Hyperparathyroidism	Renal phosphate wasting, Hyperparathyroidism, Elevated circulating parathyroid hormone level, Hyp...	OMIM:612089
Dent Disease 1	Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo...	OMIM:300009
Glutaric Aciduria Iii	Glutaric aciduria, Hypertension	OMIM:231690
Mitochondrial Complex I Deficiency, Nuclear Type 14	Hypertrophic cardiomyopathy, Increased circulating lactate concentration, Lactic acidosis	OMIM:618236
Oligomeganephronia	Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas...	ORPHA:2260
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypoalbuminemia, Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glome...	ORPHA:567546
Mitochondrial Complex I Deficiency, Nuclear Type 23	Increased circulating lactate concentration	OMIM:618244
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Hyponat...	OMIM:603553
Juvenile Polyposis Syndrome	Hypoalbuminemia, Hypokalemia	OMIM:174900
Hereditary Pheochromocytoma-Paraganglioma	Elevated urinary dopamine level, Elevated urinary norepinephrine level, Sinus tachycardia, Conges...	ORPHA:29072
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoalbuminemia, Aminoaciduria, Increased circulating lactate concentration, Lactic acidosis, Met...	OMIM:619055
Frasier Syndrome	Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Proteinuria, Glomerulopa...	ORPHA:347
Succinic Acidemia	Lactic acidosis	OMIM:600335
D-Glyceric Aciduria	Aminoaciduria, Metabolic acidosis, Bradycardia, Micropenis, Elevated circulating D-glyceric conce...	OMIM:220120
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Increased circulating lactate concentration, Hypertrophic cardiomyopathy, Lactic acidosis, Hypera...	OMIM:614052
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Hyperuricemia, Hyperuri...	ORPHA:411536
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Hypertension, Mitral regurgitation, Renal insufficiency	OMIM:173900
Congenital Tricuspid Stenosis	Hypotension, Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, ...	ORPHA:95459
Lactase Deficiency, Congenital	Metabolic acidosis	OMIM:223000
Mitochondrial Complex Iv Deficiency, Nuclear Type 11	Increased circulating lactate concentration, Elevated circulating creatine kinase concentration	OMIM:619054
Myopathy With Lactic Acidosis, Hereditary	Increased circulating lactate concentration, Lactic acidosis, Palpitations, Elevated circulating ...	OMIM:255125
Combined Oxidative Phosphorylation Deficiency 41	Lactic acidosis, Elevated circulating creatine kinase concentration	OMIM:618838
Arima Syndrome	Nephronophthisis, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, Proteinuria, R...	OMIM:243910
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Nephropathy, Aminoaciduria, Nephrocalcinosis, Reduced renal corticomedullary differentiation, Ren...	OMIM:208085
Mitochondrial Myopathy, Lethal, Infantile	Lactic acidosis	OMIM:551000
Nephroblastoma	Hematuria, Hypertension, Nephroblastoma	ORPHA:654
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Abnormal circulating copper concentration, Increased circulating lactate concentration	ORPHA:521411
Pituitary Apoplexy	Hyponatremia, Hypotension, Hypertension	ORPHA:95613
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Aminoaciduria, Increased circulating lactate concentration, Methylmalonic aciduria, Lactic acidos...	OMIM:612073
Aa Amyloidosis	Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Hypotension, Protein...	ORPHA:85445
Cardiomyopathy, Familial Restrictive, 3	Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de...	OMIM:612422
Pyruvate Carboxylase Deficiency	Neonatal hyperbilirubinemia, Increased circulating lactate concentration, Lactic acidosis, Hypera...	ORPHA:3008
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Increased circulating lactate concentration, Ketonuria, Lactic acidosis, 3-Methylglutaconic acidu...	OMIM:251900
Acute Liver Failure	Acidosis, Acute kidney injury, Alkalosis, Adrenal insufficiency, Hyperammonemia	ORPHA:90062
Idiopathic Hypercalciuria	Calcium oxalate nephrolithiasis, Renal calcium wasting, Hypercalciuria	ORPHA:2197
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Dilat...	ORPHA:71212
Tsh-Secreting Pituitary Adenoma	Increased circulating prolactin concentration, Central adrenal insufficiency, Elevated circulatin...	ORPHA:91347
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hyperparathyroidism, Nephrocalcinosis, Hyperphosphatemia, Decreased renal tubular phosphate excre...	OMIM:211900
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Increased circulating lactate concentration, Metabolic acidosis	OMIM:617290
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level, Increased ...	OMIM:616277
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Increased urinary glycerol, Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthr...	ORPHA:247598
Tricarboxylic Acid Cycle, Defect Of	Persistent lactic acidosis	OMIM:275370
Papillorenal Syndrome	Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Elevate...	OMIM:120330
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Hypertension, Glomerular sclerosis, Increased bloo...	OMIM:223900
Acute Intermittent Porphyria	Urinary retention, Dark urine, Increased urinary porphobilinogen, Renal insufficiency, Hyponatrem...	ORPHA:79276
Adenohypophysitis	Hyponatremia, Orthostatic hypotension	ORPHA:95512
Tyrosinemia, Type I	Hypermethioninemia, Nephrocalcinosis, Gastrointestinal hemorrhage, Elevated urinary succinylaceto...	OMIM:276700
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia, Metabolic acidosis, Increased urinary glycerol	OMIM:229700
Neuroblastoma, Susceptibility To, 1	Elevated urinary dopamine level, Elevated urinary homovanillic acid, Elevated urinary vanillylman...	OMIM:256700
Grange Syndrome	Aortic regurgitation, Hypertension	ORPHA:79094
Coenzyme Q10 Deficiency, Primary, 1	Focal segmental glomerulosclerosis, Hypertrophic cardiomyopathy, Lactic acidosis, Elevated circul...	OMIM:607426
Fabry Disease	Lipiduria, Congestive heart failure, Transient ischemic attack, Renal insufficiency, Proteinuria,...	OMIM:301500
Morgagni-Stewart-Morel Syndrome	Hypertension, Hypercholesterolemia, Hyperuricemia	ORPHA:77296
Bacterial Toxic-Shock Syndrome	Hypoalbuminemia, Increased circulating lactate concentration, Hypotension, Recurrent urinary trac...	ORPHA:36234
Andersen Cardiodysrhythmic Periodic Paralysis	Hypokalemia, Hyperthyroidism	OMIM:170390
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Increased circulating lactate concentration, Hypertrophic cardiomyopathy, Lactic acidosis, Cardia...	OMIM:604377
Rabin-Pappas Syndrome	Hyponatremia, Retinal telangiectasia	OMIM:620155
Coenzyme Q10 Deficiency, Primary, 4	Increased circulating lactate concentration, Lactic acidosis, Elevated lactate:pyruvate ratio	OMIM:612016
Acquired Aneurysmal Subarachnoid Hemorrhage	Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, ST segment depression, H...	ORPHA:90065
Lipodystrophy, Familial Partial, Type 3	Hypertension, Decreased HDL cholesterol concentration, Hyperuricemia, Hypertriglyceridemia	OMIM:604367
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Hypertrophic cardiomyopathy, Lactic acidosis	ORPHA:1369
Renal Dysplasia	Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Combined Oxidative Phosphorylation Deficiency 19	Lactic acidosis, Metabolic acidosis, Lacticaciduria	OMIM:615595
Developmental And Epileptic Encephalopathy 82	Increased circulating lactate concentration, Hyperammonemia	OMIM:618721
Mitochondrial Complex I Deficiency, Nuclear Type 36	Hyperprolinemia, Increased circulating lactate concentration, Hyperalaninemia	OMIM:619170
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Decreased circulating carnitine concentration, Organic aciduria, Abnormal circulating carnitine c...	ORPHA:431361
Narcolepsy Type 1	Syncope, Hypertension, Nocturia	ORPHA:2073
Combined Oxidative Phosphorylation Deficiency 33	Nephrotic syndrome, Increased circulating lactate concentration, Cardiomyopathy, Lactic acidosis,...	OMIM:617713
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hypertrophic cardiomyopathy, Lactic acidosis, Cardiomyopathy	OMIM:615119
Panhypophysitis	Hyponatremia, Orthostatic hypotension	ORPHA:95513
Multiple Endocrine Neoplasia, Type Iia	Elevated urinary dopamine level, Elevated urinary norepinephrine level, Palpitations, Elevated ur...	OMIM:171400
Moyamoya Disease 6 With Or Without Achalasia	Ischemic stroke, Hypertension, Raynaud phenomenon	OMIM:615750
Marburg Hemorrhagic Fever	Hypoalbuminemia, Elevated circulating creatinine concentration, Lactic acidosis, Hyperamylasemia,...	ORPHA:99826
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Hypertension	OMIM:600666
Hypophosphatemic Rickets, X-Linked Recessive	Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-mole...	OMIM:300554
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Lactic acidosis, Hyperl...	OMIM:232220
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hyperlipidemia, Incre...	OMIM:235400
Combined Oxidative Phosphorylation Deficiency 48	Increased circulating lactate concentration, Lactic acidosis	OMIM:619012
Mitochondrial Complex I Deficiency, Nuclear Type 5	Increased circulating lactate concentration, Lactic acidosis, Metabolic acidosis	OMIM:618226
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Lactic acidosis, Hypospadias	OMIM:620135
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Congestive heart failure, Hypophosphatemic rickets, Renal artery stenosis...	OMIM:208000
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertension, Hypertriglyceridemia	ORPHA:363400
Combined Oxidative Phosphorylation Deficiency 42	Lactic acidosis, Cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:618839
Combined Oxidative Phosphorylation Deficiency 40	Hypertrophic cardiomyopathy, Lactic acidosis, Elevated circulating creatine kinase concentration	OMIM:618835
Renal Hypodysplasia/Aplasia 1	Proteinuria, Hypertension, Bilateral renal agenesis, Renal dysplasia	OMIM:191830
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Hypertrophic cardiomyopathy, Lactic acidosis, Bradycardia, Elevated circulating creatine kinase c...	OMIM:618775
Pyruvate Dehydrogenase E1-Alpha Deficiency	Congenital lactic acidosis, Increased circulating lactate concentration, Lactic acidosis, Abnorma...	ORPHA:79243
Combined Oxidative Phosphorylation Deficiency 14	Aminoaciduria, Increased circulating lactate concentration, Lactic acidosis, Elevated hepatic iro...	OMIM:614946
Igg4-Related Retroperitoneal Fibrosis	Acute kidney injury, Budd-Chiari syndrome, Elevated circulating creatinine concentration, Large v...	ORPHA:49041
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hyperprolinemia, Increased circulating lactate concentration, Pulmonary arterial hypertension, Hy...	OMIM:619064
Microvillus Inclusion Disease	Hypovolemia, Nephrocalcinosis, Metabolic acidosis, Abnormal renal physiology	ORPHA:2290
Mitochondrial Complex I Deficiency, Nuclear Type 7	Hypertrophic cardiomyopathy, Lactic acidosis	OMIM:618229
Peripartum Cardiomyopathy	Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti...	ORPHA:563
Paroxysmal Nocturnal Hemoglobinuria	Chronic kidney disease, Decreased circulating iron concentration, Acute kidney injury, Pulmonary ...	ORPHA:447
Thrombotic Thrombocytopenic Purpura, Hereditary	Increased circulating lactate concentration, Elevated circulating creatinine concentration, Trans...	OMIM:274150
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Elevated circulating acylcarnitine concentration, Increased circulating lactate concentration, Ab...	OMIM:615838
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Transient ischemic attack, Ischemic stroke, Cerebral ischemia, Stress urinary incontinence, Cereb...	ORPHA:136
Alport Syndrome 1, X-Linked	Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Stag...	OMIM:301050
Senior-Boichis Syndrome	Chronic kidney disease, Renal hypoplasia, Abnormal urinary electrolyte concentration, Increased t...	ORPHA:84081
Glycogen Storage Disease Ixc	Increased circulating lactate concentration, Lactic acidosis, Hypertriglyceridemia	OMIM:613027
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Nephropathy, Gastrointestinal hemorrhage, Cardiomyopathy, Elevated circulating creatinine concent...	ORPHA:247691
Shigellosis	Hyponatremia, Abnormal blood ion concentration, Hypovolemic shock, Myocarditis	ORPHA:810
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Dilated cardiomyopathy, Ketonuria, Tricuspid regurgitation, Left ventricular systolic dysfunction...	OMIM:619167
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1	Elevated circulating hexacosanoic acid concentration, Increased circulating lactate concentration...	OMIM:614388
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Cyanosis, Elevated circulating C-reactive protein ...	ORPHA:79126
Glucose-Galactose Malabsorption	Hypercalcemia, Hypernatremia	ORPHA:35710
Schimke Immuno-Osseous Dysplasia	Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Congestive he...	ORPHA:1830
3-Methylglutaconic Aciduria Type 9	Urinary incontinence, Increased circulating lactate concentration, 3-Methylglutaconic aciduria	ORPHA:505216
Alport Syndrome	Thickened glomerular basement membrane, Focal segmental glomerulosclerosis, Glomerular basement m...	ORPHA:63
Sheehan Syndrome	Hyponatremia, Palpitations, Orthostatic hypotension, Bradycardia	ORPHA:91355
Mitochondrial Complex I Deficiency, Nuclear Type 18	Hydronephrosis, Lactic acidosis, Hydroureter	OMIM:618240
Mitochondrial Complex I Deficiency, Nuclear Type 20	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Dicarboxylic acidu...	OMIM:611126
3-Hydroxy-3-Methylglutaric Aciduria	3-Methylglutaric aciduria, Increased circulating lactate concentration, Hypotension, Ketonuria, D...	ORPHA:20
Immunodeficiency 87 And Autoimmunity	Elevated circulating C-reactive protein concentration, Hypokalemia, Metabolic acidosis, Hypertrig...	OMIM:619573
Eosinophilic Granulomatosis With Polyangiitis	Vasculitis, Recurrent intrapulmonary hemorrhage, Hypertrophic cardiomyopathy, Congestive heart fa...	ORPHA:183
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Hypotension	ORPHA:293978
Hypercalciuria, Absorptive, 2	Calcium oxalate nephrolithiasis, Hypercalciuria	OMIM:143870
Takayasu Arteritis	Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Cerebral ischemia, Pulmonary arteri...	ORPHA:3287
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Renal phosphate wasting, Calcium nephrolithiasis, Hypophosphatemic rickets, Renal tubular dysfunc...	OMIM:241530
Combined Oxidative Phosphorylation Deficiency 47	Increased circulating lactate concentration, Metabolic acidosis	OMIM:618958
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Aminoaciduria, Increased circulating lactate concentration, Glycosuria, Hypertrophic cardiomyopat...	OMIM:220110
Combined Oxidative Phosphorylation Deficiency 37	Hypoalbuminemia, Increased circulating lactate concentration, Hypertrophic cardiomyopathy, Lactic...	OMIM:618329
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Increased circulating lactate concentration, Lactic acidosis	ORPHA:139485
Coenzyme Q10 Deficiency, Primary, 7	Hypertrophic cardiomyopathy, Increased circulating lactate concentration, Bradycardia	OMIM:616276
Sepsis In Premature Infants	Hypotension, Oliguria, Reversible renal failure, Cyanosis, Metabolic acidosis, Bradycardia, Eleva...	ORPHA:90051
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Elevated circulating acylcarnitine concentration, Increased circulating lactate concentration, Ke...	ORPHA:480864
Pyruvate Dehydrogenase Phosphatase Deficiency	Lactic acidosis	OMIM:608782
Renal Tubular Dysgenesis	Hypotension, Abnormality of the urinary system, Renotubular dysgenesis, Anuria	OMIM:267430
Abdominal Obesity-Metabolic Syndrome 3	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Hypertension...	OMIM:615812
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Hypertrophic cardiomyopathy, Increased circulating lactate concentration, Lactic acidosis	OMIM:613561
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ...	ORPHA:159
Barth Syndrome	Dilated cardiomyopathy, Elevated monolysocardiolipin/cardiolipin ratio, Congestive heart failure,...	OMIM:302060
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia, Thickened glomerular basement membrane, Recurrent urinary tract infections, Hype...	OMIM:619487
Familial Partial Lipodystrophy, Köbberling Type	Hypertension	ORPHA:79084
Neurodegeneration With Brain Iron Accumulation 8	Increased circulating lactate concentration	OMIM:617917
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Aminoaciduria, Glycosuria, Hypertrophic cardiomyopathy, Lactic acidosis, Hyperphosphaturia, Renal...	ORPHA:436271
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hypokalemia, Hyponatremia	OMIM:618426
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Hypertrophic cardiomyopathy, Lactic acidosis, Hyperglycinemia, Dilated cardiomyopathy	OMIM:614299
Mitochondrial Complex I Deficiency, Nuclear Type 17	Increased circulating lactate concentration, Lactic acidosis	OMIM:618239
Porphyria, Acute Intermittent	Urinary retention, Hypertension, Urinary incontinence, Elevated urinary delta-aminolevulinic acid...	OMIM:176000
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Glomerulopathy, Hyperhomocystinemia, Hypertension, Hemolytic-uremic syndrome	ORPHA:2169
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency	Episodic ketoacidosis, Elevated urinary 3-hydroxybutyric acid, Ketonuria	OMIM:245050
Paganini-Miozzo Syndrome	Urinary incontinence, Increased circulating lactate concentration, Hyperalaninemia, Elevated lact...	OMIM:301025
Acquired Generalized Lipodystrophy	Abnormal circulating lipid concentration, Cardiomyopathy, Abnormal cardiovascular system physiolo...	ORPHA:79086
Glutathione Synthetase Deficiency	Chronic metabolic acidosis	ORPHA:32
Combined Oxidative Phosphorylation Deficiency 11	Renal hypoplasia, Increased circulating lactate concentration, Cardiomyopathy, Lactic acidosis, R...	OMIM:614922
Spinocerebellar Ataxia, Autosomal Recessive 30	Increased circulating lactate concentration, Increased serum pyruvate, Elevated circulating creat...	OMIM:619405
Mitochondrial Complex I Deficiency, Nuclear Type 25	Lactic acidosis	OMIM:618246
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Vesicovaginal fistula, Horseshoe kidney, Decreased circulating renin level, Hyponatremia, Hyperte...	OMIM:201750
3-Methylglutaconic Aciduria, Type Ix	Urinary incontinence, Increased circulating lactate concentration, 3-Methylglutaric aciduria, 3-M...	OMIM:617698
Acute Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia	ORPHA:529799
Chronic Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia	ORPHA:529808
Alg12-Cdg	Hyponatremia, Hypocholesterolemia, Hypoalbuminemia	ORPHA:79324
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Increased circulating lactate concentration, Dilated cardiomyopathy, Hypertrophic cardiomyopathy,...	OMIM:252011
Mitochondrial Complex I Deficiency, Nuclear Type 8	Increased circulating lactate concentration, Lactic acidosis	OMIM:618230
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia, Hypercalciuria	OMIM:242050
Carnitine-Acylcarnitine Translocase Deficiency	Hypotension, Atrioventricular block, Cardiomyopathy, Dicarboxylic aciduria, Hyperammonemia, Eleva...	OMIM:212138
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Glycosuria, Hypophosphatemic rickets, Proteinuria, Renal Fanconi syndrome, Abnormal circulating f...	ORPHA:263455
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hematochezia, Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Vesicoureteral re...	OMIM:615895
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Hypertension	OMIM:615954
Kearns-Sayre Syndrome	Third degree atrioventricular block, Cardiomyopathy, Lactic acidosis, Renal tubular acidosis, Arr...	OMIM:530000
Multiple Acyl-Coa Dehydrogenase Deficiency	Acidosis, Generalized aminoaciduria, Proximal tubulopathy, Elevated circulating glutaric acid con...	OMIM:231680
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Increased circulating lactate concentration, Lactic acidosis, Increased circulating ferritin conc...	OMIM:600462
Lujo Hemorrhagic Fever	Hypotension, Oliguria, Shock, Renal insufficiency, Metabolic acidosis, Myocarditis, Bradycardia, ...	ORPHA:319213
Neuroblastoma	Elevated urinary homovanillic acid, Increased circulating ferritin concentration, Elevated urinar...	ORPHA:635
Combined Oxidative Phosphorylation Deficiency 59	Increased circulating lactate concentration, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, ...	OMIM:620646
Obesity Due To Sim1 Deficiency	Hypotension, Postural hypotension with compensatory tachycardia	ORPHA:369873
Nephrogenic Diabetes Insipidus	Hypernatremia, Hypovolemia	ORPHA:223
Combined Oxidative Phosphorylation Deficiency 2	Increased circulating lactate concentration, Lactic acidosis	OMIM:610498
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Small pituitary gland, Unilateral renal agenesis, Hypomagnesemia, Decreased response to growth ho...	OMIM:619503
Fumarase Deficiency	Aminoaciduria, Elevated urine fumaric acid level, Hyperbilirubinemia, Lactic acidosis, Metabolic ...	OMIM:606812
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi...	OMIM:264800
Cocaine Intoxication	Acute kidney injury, Diffuse alveolar hemorrhage, Hypotension, Ventricular arrhythmia, Prolonged ...	ORPHA:90068
Renal Agenesis	Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins...	ORPHA:411709
Pparg-Related Familial Partial Lipodystrophy	Congestive heart failure, Hypertrophic cardiomyopathy, Hyperuricemia, Hypertriglyceridemia, Hyper...	ORPHA:79083
Simple Cryoglobulinemia	Nephritis, Vasculitis, Gastrointestinal hemorrhage, Congestive heart failure, Renal insufficiency...	ORPHA:91139
Inflammatory Skin And Bowel Disease, Neonatal, 2	Hypertension	OMIM:616069
Car T Cell Therapy-Associated Cytokine Release Syndrome	Decreased urine output, Elevated circulating creatinine concentration, Acute kidney injury, Hyper...	ORPHA:542323
Acquired Methemoglobinemia	Acidosis, Palpitations, Arrhythmia, Syncope, Tachycardia	ORPHA:464453
Overlap Myositis	Abnormal circulating lipid concentration, Elevated circulating creatine kinase concentration, Pul...	ORPHA:206572
Amish Lethal Microcephaly	Organic aciduria, Metabolic acidosis	ORPHA:99742
Multiple Mitochondrial Dysfunctions Syndrome 7	Metabolic acidosis, Hyperglycinemia, Cyanosis, Hypernatremia	OMIM:620423
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Hypertrophic cardiomyopathy, Increased circulating lactate concentration, Hyperalaninemia	OMIM:616896
Mitochondrial Complex Iii Deficiency, Nuclear Type 4	Increased circulating lactate concentration	OMIM:615159
Serotonin Syndrome	Hypotension, Acute kidney injury, Lactic acidosis, Tachycardia, Hypertension	ORPHA:43116
Erythrocytosis, Familial, 1	Hypertension, Myocardial infarction, Cerebral hemorrhage	OMIM:133100
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Increased circulating lactate concentration, Hypertrophic cardiomyopathy, Lactic acidosis, Renal ...	OMIM:615471
Sneddon Syndrome	Ischemic stroke, Hypertension, Cerebral hemorrhage	OMIM:182410
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Lactic acidosis	OMIM:619065
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypoalbuminemia, Pulmonic stenosis, Hypernatremia	OMIM:615508
Japanese Encephalitis	Hyponatremia	ORPHA:79139
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Micropenis, Tachycardia, Hypertension	OMIM:613870
3-Hydroxyisobutyric Aciduria	Lactic acidosis	ORPHA:939
Combined Oxidative Phosphorylation Deficiency 32	Horseshoe kidney, Increased circulating lactate concentration, Lactic acidosis	OMIM:617664
Xfe Progeroid Syndrome	Hypoalbuminemia, Proteinuria, Renal insufficiency, Hypertension	OMIM:610965
Systemic Lupus Erythematosus 17	Raynaud phenomenon, Hypertensive crisis, Mitral regurgitation	OMIM:301080
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypertrophic cardiomyopathy, Lactic acidosis	OMIM:618241
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Increased circulating lactate concentration	ORPHA:330050
Relapsing Fever	Epistaxis, Acute kidney injury, Abnormality of the urinary system, Hypotension, Increased total b...	ORPHA:91547
Diarrhea 12, With Microvillus Atrophy	Metabolic acidosis	OMIM:619445
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Dilated cardiomyopathy, Elevated circulating palmitoleylcarnitine concentration, Ketonuria, Methy...	ORPHA:79282
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Generalized aminoaciduria, Hyperbilirubinemia, Lactic acidosis, Portal hypertens...	OMIM:251880
Chédiak-Higashi Syndrome	Epistaxis, Increased circulating ferritin concentration, Hyponatremia, Hypertriglyceridemia, Hypo...	ORPHA:167
Fabry Disease	Nephropathy, Mitral regurgitation, Hematuria, Arrhythmia, Nephrotic syndrome, Hypertrophic cardio...	ORPHA:324
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Aminoaciduria, Renal hypoplasia, Increased circulating lactate concentration, 3-Methylglutaconic ...	OMIM:604273
Galloway-Mowat Syndrome 3	Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis, Glomer...	OMIM:617729
Mitochondrial Complex I Deficiency, Nuclear Type 2	Hypertrophic cardiomyopathy, Increased circulating lactate concentration, Increased serum pyruvat...	OMIM:618222
Spinocerebellar Ataxia With Epilepsy	Increased circulating lactate concentration, Hyperalaninemia	ORPHA:254881
Seckel Syndrome 10	Glycosuria, Congestive heart failure, Hypertriglyceridemia, Elevated hemoglobin A1c, Hypertension	OMIM:617253
Mitochondrial Myopathy And Sideroblastic Anemia	Lactic acidosis	ORPHA:2598
Glycerol Kinase Deficiency	Increased circulating lactate concentration, Ketoacidosis, Increased urinary glycerol, Metabolic ...	OMIM:307030
Hypophosphatemic Rickets, X-Linked Dominant	Renal phosphate wasting, Elevated circulating parathyroid hormone level, Hypophosphatemic rickets...	OMIM:307800
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Hypertension, Dilated cardiomyopathy, Ischemic stroke, Cerebral hemorrhage	ORPHA:280679
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Increased circulating lactate concentration, Glycosuria, Hypertrophic cardiomyopathy, Lactic acid...	OMIM:616539
X-Linked Hypohidrotic Ectodermal Dysplasia	Hypertension	ORPHA:181
Systemic Capillary Leak Syndrome	Hypotension, Oliguria, Renal insufficiency, Arrhythmia, Abnormal renal tubule morphology, Myocard...	ORPHA:188
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Aminoaciduria, Lactic acidosis, Ketonuria	OMIM:614520
Leigh Syndrome	Generalized aminoaciduria, Increased circulating lactate concentration, Ketoacidosis, Methylmalon...	ORPHA:506
Mitochondrial Complex I Deficiency, Nuclear Type 12	Increased circulating lactate concentration	OMIM:301020
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron...	OMIM:613159
Combined Oxidative Phosphorylation Defect Type 23	Congestive heart failure, Hypertrophic cardiomyopathy, Lactic acidosis, Cyanosis, Severely reduce...	ORPHA:444013
Mitochondrial Complex I Deficiency, Nuclear Type 37	Increased circulating lactate concentration, Lactic acidosis, Pulmonary arterial hypertension, Br...	OMIM:619272
Stevens-Johnson Syndrome	Dysuria, Hypokalemic metabolic alkalosis, Renal insufficiency, Abnormality of the urethra	ORPHA:36426
Pearson Marrow-Pancreas Syndrome	3-Methylglutaric aciduria, Hyperbilirubinemia, Lactic acidosis, Metabolic acidosis, Renal Fanconi...	OMIM:557000
Diarrhea 4, Malabsorptive, Congenital	Hyperchloremic metabolic acidosis	OMIM:610370
Caudal Regression Syndrome	Renal agenesis, Abnormality of the ureter, Renal insufficiency, Vesicoureteral reflux, Hypertensi...	ORPHA:3027
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Aminoaciduria, Elevated lactate:pyruvate ratio, Increased circulating lactate concentration, Hype...	OMIM:124000
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Increased circulating lactate concentration, Metabolic acidosis	ORPHA:88639
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Portal hyperte...	OMIM:263200
Striatonigral Degeneration, Infantile, Mitochondrial	Increased circulating lactate concentration	OMIM:500003
Schimke Immunoosseous Dysplasia	Focal segmental glomerulosclerosis, Transient ischemic attack, Stage 5 chronic kidney disease, Re...	OMIM:242900
Sickle Cell Disease	Hematuria, Renal insufficiency, Hypoxemia, Hypertension	OMIM:603903
Holoprosencephaly	Hyponatremia, Arrhythmia	ORPHA:2162
Coach Syndrome 1	Unilateral renal agenesis, Nephronophthisis, Multiple small medullary renal cysts, Stage 5 chroni...	OMIM:216360
Congenital Disorder Of Glycosylation, Type Iibb	Increased circulating lactate concentration	OMIM:620546
Leukodystrophy, Hypomyelinating, 4	Increased circulating lactate concentration, Ethylmalonic aciduria	OMIM:612233
Ganglioneuroma	Gastrointestinal hemorrhage, Hypertension	ORPHA:251992
Mitochondrial Complex I Deficiency, Nuclear Type 16	Lactic acidosis	OMIM:618238
Postinfectious Vasculitis	Cerebral vasculitis, Elevated haptoglobin level, Cardiomyopathy, Ischemic stroke, Hematuria, Prot...	ORPHA:48435
Riboflavin Transporter Deficiency	Hypertension	ORPHA:97229
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Increased circulating lactate concentration, Right bundle branch block, Elevated circulating crea...	OMIM:616479
Familial Cerebral Saccular Aneurysm	Subarachnoid hemorrhage, Transient ischemic attack, Hypertension, Intracranial hemorrhage	ORPHA:231160
Interstitial Lung And Liver Disease	Aminoaciduria, Hypoxemia, Lactic acidosis, Hyperammonemia	OMIM:615486
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Cardiomyopathy, Lactic acidosis, Renal tubular acidosis, Elevated circulating creatine kinase con...	ORPHA:264580
Mitochondrial Neurogastrointestinal Encephalomyopathy	Lactic acidosis, Hyperalaninemia	ORPHA:298
Lead Poisoning	Chronic kidney disease, Increased LDL cholesterol concentration, Renal tubular dysfunction, Decre...	ORPHA:330015
Autosomal Recessive Hypophosphatemic Rickets	Renal hypophosphatemia, Renal phosphate wasting, Hypophosphatemic rickets, Hyperphosphaturia, Abn...	ORPHA:289176
Immunodeficiency 44	Increased circulating lactate concentration	OMIM:616636
Long-Olsen-Distelmaier Syndrome	Increased circulating lactate concentration, Dilated cardiomyopathy, Congestive heart failure, Hy...	OMIM:620609
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Lactic acidosis, Renal tubular acidosis, Elevated circulating creatine kinase concentration, Myog...	ORPHA:79240
Postorgasmic Illness Syndrome	Palpitations, Hypertension	ORPHA:279947
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600
Cerebrooculofacioskeletal Syndrome 1	Metabolic acidosis	OMIM:214150
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Cardiomyopathy, Ethylmalonic aciduria, Episodic metabolic acidosis	OMIM:201470
Duplication Of Urethra	Anuria, Recurrent urinary tract infections, Dysuria, Rectourethral fistula, Distal urethral dupli...	ORPHA:237
Yellow Fever	Acute kidney injury, Anuria, Shock, Elevated circulating creatinine concentration, Reduced left v...	ORPHA:99829
Neurodegeneration And Seizures Due To Copper Transport Defect	Abnormal circulating copper concentration, Increased circulating lactate concentration, Abnormal ...	OMIM:620306
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Hyperlipidemia, Nephrolithiasis, Renal cell carcinoma, Hyperten...	ORPHA:189427
Acquired Von Willebrand Syndrome	Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,...	ORPHA:99147
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Epistaxis, Nephrocalcinosis, Stage 5 chronic kidney disease, Hyperlipidemia, Lactic acidosis, Hyp...	ORPHA:79259
Combined Oxidative Phosphorylation Defect Type 27	Increased circulating lactate concentration	ORPHA:477774
Pyridoxine-Dependent Epilepsy	Lactic acidosis	ORPHA:3006
Granulomatosis With Polyangiitis	Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Ureteral stenosis, Cerebral ischemia, Renal i...	ORPHA:900
Liver Disease, Severe Congenital	Increased circulating ferritin concentration, Systolic heart murmur, Hyperbilirubinemia, Hypocalc...	OMIM:619991
Central Hypoventilation Syndrome, Congenital, 3	Episodic hypertension	OMIM:619483
Mitochondrial Complex I Deficiency, Nuclear Type 1	Elevated lactate:pyruvate ratio, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopa...	OMIM:252010
Oncogenic Osteomalacia	Renal phosphate wasting, Hypophosphatemia, Hypocalcemia, Hyperphosphaturia	ORPHA:352540
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Increased circulating lactate concentration, Elevated urine acetoacetic acid level, Alpha-aminoad...	OMIM:620089
Charcot-Marie-Tooth Disease, Type 4K	Increased circulating lactate concentration	OMIM:616684
Lipodystrophy, Familial Partial, Type 7	Type I diabetes mellitus, Hypercholesterolemia, Polyuria, Hypertriglyceridemia	OMIM:606721
Leber Optic Atrophy And Dystonia	Increased circulating lactate concentration	OMIM:500001
Multiple Mitochondrial Dysfunctions Syndrome 6	Increased circulating lactate concentration	OMIM:617954
Leigh Syndrome, Nuclear	Increased circulating lactate concentration, Lactic acidosis	OMIM:256000
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Portal hypertension, Increased serum bile acid concentration, Hypona...	ORPHA:731
Combined Oxidative Phosphorylation Deficiency 13	Increased circulating lactate concentration	OMIM:614932
Wagro Syndrome	Proteinuria, Hypertension, Nephroblastoma	OMIM:612469
Developmental And Epileptic Encephalopathy 111	Premature ventricular contraction, Hypertension, Sinus tachycardia, Nephrolithiasis	OMIM:620504
Enamel-Renal Syndrome	Nephropathy, Nephrocalcinosis, Hypocalciuria, Abnormal circulating calcium-phosphate regulating h...	ORPHA:1031
Webb-Dattani Syndrome	Hypernatremia	OMIM:615926
Combined Oxidative Phosphorylation Deficiency 54	Tachycardia, Increased circulating lactate concentration, Elevated lactate:pyruvate ratio	OMIM:619737
Combined Oxidative Phosphorylation Deficiency 12	Increased circulating lactate concentration, Lactic acidosis, Elevated circulating alpha-fetoprot...	OMIM:614924
Arteriosclerosis, Severe Juvenile	Chronic kidney disease, Hypertension, Myocardial infarction	OMIM:208060
Cockayne Syndrome Type 1	Proteinuria, Renal insufficiency, Increased blood urea nitrogen, Hypertension	ORPHA:90321
Enteric Anendocrinosis	Portal hypertension, Hyperchloremic metabolic acidosis	ORPHA:83620
Diffuse Cutaneous Systemic Sclerosis	Hypertensive crisis, Oliguria, Congestive heart failure, Renal insufficiency, Pulmonary arterial ...	ORPHA:220393
Pseudohypoparathyroidism Type 1A	Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Hypocalcemic tetany, Hy...	ORPHA:79443
Osteopetrosis With Renal Tubular Acidosis	Distal renal tubular acidosis, Renal tubular acidosis, Hypocalcemia, Elevated circulating creatin...	ORPHA:2785
Acute Monoblastic/Monocytic Leukemia	Oliguria, Central hypothyroidism	ORPHA:514
Livedoid Vasculopathy	Abnormal circulating lipid concentration, Ischemic stroke, Telangiectasia of the skin, Hyperhomoc...	ORPHA:542643
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Increased circulating lactate concentration, Ventricular bigeminy, Elevated circulating creatine ...	OMIM:610131
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Hypertension	OMIM:610489
Pituitary Adenoma 1, Multiple Types	Hypertension, Cardiomyopathy	OMIM:102200
Pseudo-Torch Syndrome 2	Cerebral hemorrhage, Lactic acidosis, Abnormal renal corticomedullary differentiation, Bradycardia	OMIM:617397
Autosomal Dominant Dopa-Responsive Dystonia	Hypertension, Transient hyperphenylalaninemia	ORPHA:98808
Multiple Endocrine Neoplasia Type 2	Hypertensive crisis, Elevated urinary norepinephrine level, Palpitations, Hypertension associated...	ORPHA:653
Chronic Thromboembolic Pulmonary Hypertension	Increased HDL cholesterol concentration, Right ventricular failure, Pulmonary embolism, Congestiv...	ORPHA:70591
Spondyloenchondrodysplasia	Chronic kidney disease, Vasculitis, Hematuria, Proteinuria, Raynaud phenomenon, Hypertension	ORPHA:1855
Zttk Syndrome	Horseshoe kidney, Unilateral renal agenesis, Polyuria	OMIM:617140
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Increased circulating lactate concentration, Lactic acidosis, Cardiomyopathy	OMIM:617710
Isolated Complex I Deficiency	Hypertrophic cardiomyopathy, Proximal tubulopathy, Increased serum pyruvate, Lactic acidosis	ORPHA:2609
Paroxysmal Hemicrania	Hypertension	ORPHA:157835
Pierson Syndrome	Hyperechogenic kidneys, Stage 5 chronic kidney disease, Proteinuria, Hypertension, Diffuse mesang...	OMIM:609049
Lmna-Related Cardiocutaneous Progeria Syndrome	Aortic valve stenosis, Congestive heart failure, Papillary renal cell carcinoma, Mitral regurgita...	ORPHA:363618
Low Phospholipid-Associated Cholelithiasis	Hypertension, Hypercholesterolemia	ORPHA:69663
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Renal hypoplasia, Hypertension, Absence of renal corticomedullary differentiation	OMIM:619758
Dilated Cardiomyopathy With Ataxia	Increased circulating lactate concentration, Dilated cardiomyopathy, Elevated circulating glutari...	ORPHA:66634
Microscopic Polyangiitis	Hematuria, Glomerulopathy, Oliguria, Renal insufficiency	ORPHA:727
Harel-Yoon Syndrome	Hypertrophic cardiomyopathy, Increased circulating lactate concentration	OMIM:617183
Perry Syndrome	Hypotension	ORPHA:178509
Pheochromocytoma/Paraganglioma Syndrome 4	Palpitations, Hypertension associated with pheochromocytoma, Elevated urinary catecholamine level...	OMIM:115310
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Aminoaciduria, Nephrocalcinosis, Lactic acidosis, Cardiomyopathy	OMIM:616084
Dengue Fever	Epistaxis, Hypotension, Gastrointestinal hemorrhage, Cerebral hemorrhage, Hypoproteinemia	ORPHA:99828
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Hypertrophic cardiomyopathy, Increased circulating lactate concentration, 3-Methylglutaconic acid...	ORPHA:496790
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hypertrophic cardiomyopathy, Hypocholesterolemia, Increased circulating lactate concentration, Mi...	OMIM:618810
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Increased circulating lactate concentration, Renal insufficiency, Hyperalaninemia, Increased seru...	OMIM:619147
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Increased circulating lactate concentration, Abnormal renal collecting system morphology, Methylm...	ORPHA:17
Alagille Syndrome	Abnormality of the ureter, Renal hypoplasia/aplasia, Telangiectasia of the skin, Nephrotic syndro...	ORPHA:52
Microcephaly, Amish Type	Lactic acidosis	OMIM:607196
Monosomy 18P	Hypertension	ORPHA:1598
Alstrom Syndrome	Nephritis, Dilated cardiomyopathy, Congestive heart failure, Renal insufficiency, Hypertriglyceri...	OMIM:203800
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,...	ORPHA:137675
Gaucher Disease, Type I	Aortic valve stenosis, Epistaxis, Mitral regurgitation, Pulmonary arterial hypertension, Hyperten...	OMIM:230800
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Pulmonary arterial hypertension, Hypertension	OMIM:613320
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Nephrocalcinosis, Restrictive cardiomyopathy, Angina pectoris, Telan...	ORPHA:758
Acute Transverse Myelitis	Urinary retention, Urinary bladder sphincter dysfunction, Subarachnoid hemorrhage, Orthostatic hy...	ORPHA:139417
Melas	Nephropathy, Focal segmental glomerulosclerosis, Increased circulating lactate concentration, Pro...	ORPHA:550
Multicystic Dysplastic Kidney	Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure...	ORPHA:1851
Infant Acute Respiratory Distress Syndrome	Tachycardia, Hypotension, Cardiac arrest, Bradycardia	ORPHA:70587
Hyperglycinemia, Lactic Acidosis, And Seizures	Hypertrophic cardiomyopathy, Increased circulating lactate concentration, Lactic acidosis	OMIM:614462
Pheochromocytoma/Paraganglioma Syndrome 3	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:605373
Joubert Syndrome 14	Renal cyst, Intracranial hemorrhage, Hypertension	OMIM:614424
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Hypertension	OMIM:617763
Denys-Drash Syndrome	Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ...	OMIM:194080
Primary Progressive Freezing Gait	Urinary incontinence, Hypertension	ORPHA:75567
Crimean-Congo Hemorrhagic Fever	Hematuria, Tachycardia, Diffuse alveolar hemorrhage, Bundle branch block, Hemothorax, Hemoperiton...	ORPHA:99827
Pediatric-Onset Graves Disease	Sinus tachycardia, Congestive heart failure, Palpitations, Atrial fibrillation, Hypertension	ORPHA:525731
Pontocerebellar Hypoplasia, Type 6	Increased circulating lactate concentration	OMIM:611523
Congenital Short Bowel Syndrome	Metabolic acidosis	OMIM:615237
Pyruvate Dehydrogenase E2 Deficiency	Lactic acidosis	OMIM:245348
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Dilated cardiomyopathy, Hypertension, Cerebral hemorrhage	OMIM:300845
Isolated Ectopia Lentis	Hypertension	ORPHA:1885
Werner Syndrome	Congestive heart failure, Telangiectasia of the skin, Renal neoplasm, Hypertension, Myocardial in...	ORPHA:902
Extracranial Carotid Artery Aneurysm	Vasculitis, Arteritis, Cerebral ischemia, Subarachnoid hemorrhage, Hypertension	ORPHA:494424
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Lactic acidosis	ORPHA:1170
Von Hippel-Lindau Disease	Cardiomyopathy, Palpitations, Elevated urinary catecholamine level, Arrhythmia, Multiple renal cy...	ORPHA:892
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Increased circulating lactate concentration, Bradycardia, Cardiomyopathy, Arrhythmia	OMIM:609286
Biotinidase Deficiency	Organic aciduria, Hyperammonemia, Metabolic ketoacidosis	OMIM:253260
Nipah Virus Disease	Hypotension	ORPHA:99825
Scrub Typhus	Myocarditis, Hypotension, Renal insufficiency	ORPHA:83317
Stiff-Person Syndrome	Tachycardia, Hypertension	OMIM:184850
Infantile Liver Failure Syndrome 1	Lactic acidosis	OMIM:615438
Polycythemia Vera	Epistaxis, Gastrointestinal hemorrhage, Pulmonary embolism, Budd-Chiari syndrome, Portal hyperten...	ORPHA:729
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Hyperlipidemia	ORPHA:293987
Lassa Fever	Oliguria	ORPHA:99824
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Hypospadias, Increased circulating lactate concentration, Ketonuria, Hypertrophic cardiomyopathy,...	OMIM:220111
Meningococcal Meningitis	Elevated circulating C-reactive protein concentration, Hypotension, Shock, Renal insufficiency	ORPHA:33475
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Increased circulating lactate concentration	OMIM:619026
Mitochondrial Dna Depletion Syndrome 19	Increased circulating lactate concentration, Hypospadias	OMIM:618972
3-Methylglutaconic Aciduria Type 7	Increased circulating lactate concentration, Nephrocalcinosis, Cardiomyopathy, Renal insufficienc...	ORPHA:445038
Pontocerebellar Hypoplasia, Type 9	Increased circulating lactate concentration	OMIM:615809
Cutis Marmorata Telangiectatica Congenita	Telangiectasia, Hypertension	OMIM:219250
Combined Oxidative Phosphorylation Deficiency 15	Increased circulating lactate concentration, Hypertension, Wolff-Parkinson-White syndrome, Shorte...	OMIM:614947
Lipodystrophy, Familial Partial, Type 2	Hypertension, Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:151660
Glycogen Storage Disease Of Heart, Lethal Congenital	Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Left axis dev...	OMIM:261740
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Increased circulating lactate concentration	OMIM:619060
Fragile X-Associated Tremor/Ataxia Syndrome	Hypertension, Hypotension, Pollakisuria, Urinary bladder sphincter dysfunction	ORPHA:93256
Cutaneous Mastocytoma	Telangiectasia of the skin, Hypotension, Telangiectasia macularis eruptiva perstans	ORPHA:79455
Hurler Syndrome	Angina pectoris, Mucopolysacchariduria, Hypertension, Cardiomyopathy	ORPHA:93473
Aortic Arch Interruption	Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Shock, Blood pressure su...	ORPHA:2299
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Vasculitis, Dilated cardiomyopathy, Portal hypertension, Raynaud phenomenon, Elevated circulating...	OMIM:615688
Neuroendocrine Tumor Of The Colon	Hypotension, Right ventricular failure, Tricuspid regurgitation, Palpitations, Facial telangiecta...	ORPHA:100080
Lissencephaly 7 With Cerebellar Hypoplasia	Increased circulating lactate concentration	OMIM:616342
Familial Osteodysplasia, Anderson Type	Hypertension, Hyperuricemia	ORPHA:2769
Optic Atrophy 11	Increased circulating lactate concentration, Mildly elevated creatine kinase	OMIM:617302
Pheochromocytoma/Paraganglioma Syndrome 1	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:168000
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hematochezia, Renal tubular acidosis, Metabolic acidosis	OMIM:619575
Pigmented Nodular Adrenocortical Disease, Primary, 4	Hypertension	OMIM:615830
Aicardi-Goutieres Syndrome 7	Vasculitis, Hematochezia, Increased circulating ferritin concentration, Hypertrophic cardiomyopat...	OMIM:615846
Combined Oxidative Phosphorylation Defect Type 13	Increased circulating lactate concentration	ORPHA:319514
Lysinuric Protein Intolerance	Aminoaciduria, Hyperlysinuria, Increased circulating lactate concentration, Increased circulating...	OMIM:222700
Mitochondrial Complex I Deficiency, Nuclear Type 9	Lactic acidosis	OMIM:618232
Alkaptonuria	Aminoaciduria, Aortic valve stenosis, Elevated urinary homogentisic acid, Dark urine, Mitral regu...	ORPHA:56
Neuroendocrine Tumor Of The Rectum	Hematochezia, Hypotension, Right ventricular failure, Tricuspid regurgitation, Palpitations, Faci...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hematochezia, Hypotension, Right ventricular failure, Tricuspid regurgitation, Palpitations, Faci...	ORPHA:100082
Combined Oxidative Phosphorylation Deficiency 27	Increased circulating lactate concentration, Hyperammonemia	OMIM:616672
Erythrocytosis, Familial, 2	Hypotension, Pulmonary arterial hypertension, Cerebral hemorrhage	OMIM:263400
Vascular Ehlers-Danlos Syndrome	Cystocele, Hypokalemia, Bladder diverticulum, Renovascular hypertension, Hypospadias	ORPHA:286
Hellp Syndrome	Acute kidney injury, Hypotension, Proteinuria, Internal hemorrhage, Cerebral hemorrhage, Hemoglob...	ORPHA:244242
Acth-Independent Macronodular Adrenal Hyperplasia	Hypertension	OMIM:219080
Pigmented Nodular Adrenocortical Disease, Primary, 2	Hypertension	OMIM:610475
Inhalational Anthrax	Hypotension, Internal hemorrhage	ORPHA:247257
Tubulointerstitial Nephritis And Uveitis Syndrome	Aminoaciduria, Beta 2-microglobulinuria, Sterile pyuria, Elevated circulating creatinine concentr...	ORPHA:91500
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Increased circulating lactate concentration, Spastic/hyperactive bladder	ORPHA:137898
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Elevated circulating deoxyuridine concentration, Lactic acidosis, Elevated circulating thymidine ...	OMIM:603041
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Renal artery stenosis, Hyperlipidemia, Mitral regurgitat...	ORPHA:391665
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Micropenis, Increased circulating lactate concentration, Hyperalaninemia	OMIM:619847
Scalp-Ear-Nipple Syndrome	Duplication of renal pelvis, Recurrent urinary tract infections, Pyelonephritis, Abnormality of t...	ORPHA:2036
Arterial Tortuosity Syndrome	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Telangiectasia of ...	ORPHA:3342
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Atrioventricular block, Hypertension	ORPHA:371428
Hardikar Syndrome	Hypoplasia of the bladder, Hydroureter, Recurrent urinary tract infections, Pyelonephritis, Hyper...	OMIM:301068
Developmental And Epileptic Encephalopathy 51	Increased circulating lactate concentration, Elevated lactate:pyruvate ratio	OMIM:617339
Biotinidase Deficiency	Organic aciduria, Hyperammonemia, Metabolic ketoacidosis	ORPHA:79241
Mitochondrial Complex I Deficiency, Nuclear Type 28	Increased circulating lactate concentration, Hyperalaninemia	OMIM:618249
Bronchial Neuroendocrine Tumor	Hypotension, Cardiogenic shock, Right ventricular failure, Tricuspid regurgitation, Palpitations,...	ORPHA:97287
Systemic Lupus Erythematosus	Hematuria, Proteinuria, Lupus nephritis, Raynaud phenomenon, Hypertension, Pyuria	ORPHA:536
Biliary, Renal, Neurologic, And Skeletal Syndrome	Dilatation of the renal pelvis, Hyperbilirubinemia, Dark urine, Metabolic acidosis, Aortic regurg...	OMIM:619534
Congenital Enterovirus Infection	Hypoalbuminemia, Hypotension, Cardiomyopathy, Hyperammonemia, Myocarditis	ORPHA:292
Proximal Spinal Muscular Atrophy	Metabolic acidosis, Bradycardia	ORPHA:70
Staphylococcal Necrotizing Pneumonia	Elevated circulating C-reactive protein concentration, Hypotension, Shock	ORPHA:36238
Poliomyelitis	Hypovolemic shock, Hypotension, Hypertension	ORPHA:2912
Cockayne Syndrome	Unilateral renal agenesis, Renal hypoplasia, Renal insufficiency, Retinal hemorrhage, Hyperuricem...	ORPHA:191
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Renal cortical hyperechogenicity, Anuria, Megacystis, Pyelonephritis, Fetal megacystis	OMIM:619351
Arterial Tortuosity Syndrome	Aortic valve stenosis, Aortic regurgitation, Ischemic stroke, Telangiectases of the cheeks, Hyper...	OMIM:208050
Aromatic L-Amino Acid Decarboxylase Deficiency	Hypotension	ORPHA:35708
Chromosome 5Q12 Deletion Syndrome	Hypotension	OMIM:615668
Ileal Neuroendocrine Tumor	Hypotension, Cardiogenic shock, Right ventricular failure, Arterial occlusion, Palpitations, Hydr...	ORPHA:100078
Mitochondrial Dna-Associated Leigh Syndrome	Increased circulating lactate concentration, Dilated cardiomyopathy, Hypertrophic cardiomyopathy,...	ORPHA:255210
Oculopharyngodistal Myopathy 1	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Elevated cir...	OMIM:164310
Carey-Fineman-Ziter Syndrome	Glandular hypospadias, Hypertensive crisis, Hydronephrosis	ORPHA:1358
Au-Kline Syndrome	Chronic kidney disease, Dilatation of the renal pelvis, Vesicoureteral reflux, Hydronephrosis, Hy...	OMIM:616580
Pyruvate Dehydrogenase E1-Beta Deficiency	Lactic acidosis	ORPHA:255138
Nestor-Guillermo Progeria Syndrome	Sinus tachycardia, Mitral regurgitation, Right bundle branch block, Pulmonary arterial hypertensi...	OMIM:614008
Beare-Stevenson Cutis Gyrata Syndrome	Hypertension, Hypospadias	OMIM:123790
Combined Oxidative Phosphorylation Deficiency 58	Hyperprolinemia, Increased circulating lactate concentration, Hyperalaninemia, Lacticaciduria	OMIM:620451
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hypertension	ORPHA:449291
Wars2-Related Combined Oxidative Phosphorylation Defect	Increased circulating lactate concentration, Lactic acidosis, Cardiomyopathy	ORPHA:572798
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Retinal hemorrhage, Tachycardia, Hypertension, Bradycardia	OMIM:614653
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Increased circulating lactate concentration, Lactic acidosis	OMIM:617186
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Transient ischemic attack, Ischemic stroke, Subarachnoid hemorrhage, Abnorm...	ORPHA:91387
Smith-Lemli-Opitz Syndrome	Hypoalbuminemia, Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Hypertrophic cardio...	OMIM:270400
Williams Syndrome	Mitral regurgitation, Hypertrophic cardiomyopathy, Renal insufficiency, Renal duplication, Multip...	ORPHA:904
Generalized Arterial Calcification Of Infancy	Nephrocalcinosis, Cortical nephrocalcinosis, Medullary nephrocalcinosis, Hypophosphatemic rickets...	ORPHA:51608
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hypertension	ORPHA:1555
Aneurysm Of Sinus Of Valsalva	Oliguria	ORPHA:1054
Immunodeficiency 82 With Systemic Inflammation	Elevated circulating C-reactive protein concentration, Vasculitis in the skin, Hypernatremia, Hyp...	OMIM:619381
Carney Triad	Gastrointestinal hemorrhage, Tachycardia, Arrhythmia, Hypertension	ORPHA:139411
Scalp-Ear-Nipple Syndrome	Unilateral renal agenesis, Renal hypoplasia, Congestive heart failure, Pyelonephritis, Renal insu...	OMIM:181270
Tuberous Sclerosis Complex	Chronic kidney disease, Stage 5 chronic kidney disease, Renal insufficiency, Hypertension, Renal ...	ORPHA:805
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Increased circulating lactate concentration	ORPHA:438114
Multiple Endocrine Neoplasia Type 1	Shortened QT interval, Nephrolithiasis, Hypertension, Hypercalciuria, Hematemesis, Melena, Hyperc...	ORPHA:652
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Acute kidney injury, Nephronophthisis, Stage 5 chronic kidney disease, Reduced renal corticomedul...	OMIM:266920
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Increased circulating lactate concentration	OMIM:612949
Aorta Coarctation	Pulmonary arterial hypertension, Hypertension, Congestive heart failure	ORPHA:1457
Telangiectasia, Hereditary Hemorrhagic, Type 2	Nasal mucosa telangiectasia, Facial telangiectasia, Cerebral hemorrhage, Fingerpad telangiectases...	OMIM:600376
3-Methylglutaconic Aciduria, Type Viib	Increased circulating lactate concentration, 3-Methylglutaconic aciduria, Congestive heart failure	OMIM:616271
Cranioectodermal Dysplasia 2	Hypertension, Renal cyst, Hyperbilirubinemia, Renal insufficiency	OMIM:613610
Orofaciodigital Syndrome I	Proteinuria, Polycystic kidney dysplasia, Hypertension	OMIM:311200
Vici Syndrome	Acidosis, Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Penile hypospadias, E...	OMIM:242840
Orofaciodigital Syndrome Type 1	Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Hydronephrosis, Hypertension	ORPHA:2750
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hypertension	OMIM:616914
Cockayne Syndrome B	Renal insufficiency, Proteinuria, Arrhythmia, Micropenis, Hypertension	OMIM:133540
Neuroendocrine Tumor Of Stomach	Hypotension, Cardiogenic shock, Right ventricular failure, Tricuspid regurgitation, Palpitations,...	ORPHA:100075
Rett Syndrome	Increased circulating lactate concentration, Increased serum pyruvate, Hyperammonemia	ORPHA:778
Cockayne Syndrome A	Renal insufficiency, Proteinuria, Arrhythmia, Micropenis, Hypertension	OMIM:216400
Hartsfield Syndrome	Hypernatremia	OMIM:615465
Williams-Beuren Syndrome	Renal hypoplasia, Enuresis, Nephrocalcinosis, Recurrent urinary tract infections, Renal artery st...	OMIM:194050
Von Hippel-Lindau Syndrome	Hypertension, Multiple renal cysts, Renal cell carcinoma	OMIM:193300
Bardet-Biedl Syndrome 1	Micropenis, Hypertension, Abnormality of the kidney	OMIM:209900
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia, Hypercapnia	OMIM:601887
Post-Traumatic Pituitary Deficiency	Hypotension	ORPHA:95619
Combined Oxidative Phosphorylation Deficiency 7	Increased circulating lactate concentration	OMIM:613559
Mucopolysaccharidosis Type 2, Severe Form	Cardiomyopathy, Heparan sulfate excretion in urine, Arrhythmia, Dermatan sulfate excretion in uri...	ORPHA:217085
Alexander Disease	Hypertension, Hypotension, Sudden cardiac death	ORPHA:58
Mucopolysaccharidosis Type 2, Attenuated Form	Cardiomyopathy, Heparan sulfate excretion in urine, Arrhythmia, Dermatan sulfate excretion in uri...	ORPHA:217093
Pde4D Haploinsufficiency Syndrome	Hypotension, Hypospadias	ORPHA:439822
Myhre Syndrome	Abnormal penis morphology, Hypospadias, Epispadias, Hypertension	ORPHA:2588
Congenital Disorder Of Glycosylation, Type Iim	Hypertension, Neonatal hyperbilirubinemia, Vesicovaginal fistula, Ureteropelvic junction obstruction	OMIM:300896
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Gastrointestinal hemorrhage, Pulmonary embolism, Cerebral ischemia, Intracranial hemorrhage, Hype...	ORPHA:394
Bardet-Biedl Syndrome	Chronic kidney disease, Cardiomyopathy, Decreased HDL cholesterol concentration, Horseshoe kidney...	ORPHA:110
Apert Syndrome	Hypertension	ORPHA:87
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Unilateral renal agenesis, Abnormality of the urinary system, Dilatation of the renal pelvis, Ves...	ORPHA:95699
Autosomal Dominant Progressive External Ophthalmoplegia	Increased circulating lactate concentration, Dilated cardiomyopathy, Reduced left ventricular eje...	ORPHA:254892
Spastic Tetraplegia And Axial Hypotonia, Progressive	Increased circulating lactate concentration	OMIM:618598
Combined Oxidative Phosphorylation Defect Type 39	Increased circulating lactate concentration, Bradycardia	ORPHA:565624
Hallermann-Streiff Syndrome	Telangiectasia, Pulmonary arterial hypertension, Hypertension	OMIM:234100
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Lactic acidosis, Metabolic acidosis	OMIM:256810
Aggressive Systemic Mastocytosis	Hypotension, Gastrointestinal hemorrhage, Portal hypertension	ORPHA:98850
Hunter-Macdonald Syndrome	Aortic regurgitation, Hypospadias, Mitral regurgitation, Hypertension	OMIM:611962
Smooth Muscle Dysfunction Syndrome	Pulmonary arterial hypertension, Hypertension	OMIM:613834
Familial Bicuspid Aortic Valve	Aortic valve stenosis, Heart murmur, Aortic regurgitation, Hypertension	ORPHA:402075
Diffuse Cutaneous Mastocytosis	Hypotension, Gastrointestinal hemorrhage	ORPHA:79456
Combined Oxidative Phosphorylation Deficiency 39	Increased circulating lactate concentration, Sinus bradycardia	OMIM:618397
Atypical Werner Syndrome	Aortic valve stenosis, Glycosuria, Congestive heart failure, Telangiectasia of the skin, Hypertri...	ORPHA:79474
Congenital Disorder Of Deglycosylation 1	Increased circulating lactate concentration, Chondroitin sulfate excretion in urine, Keratan sulf...	OMIM:615273
Marshall-Smith Syndrome	Premature ventricular contraction, Pulmonary arterial hypertension, Hypertension	OMIM:602535
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Increased circulating lactate concentration, Dilated cardiomyopathy	ORPHA:70595
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Increased circulating lactate concentration, Dilated cardiomyopathy	OMIM:618321
Prader-Willi Syndrome	Hypertension	ORPHA:739
Cushing Disease	Increased urinary cortisol level, Capillary fragility, Hypertension, Myocardial infarction	ORPHA:96253
Xq21 Microdeletion Syndrome	Renal artery stenosis, Hypertension	ORPHA:1435
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Increased circulating lactate concentration	OMIM:620275
Blau Syndrome	Nephropathy, Large vessel vasculitis, Stage 5 chronic kidney disease, Clear cell renal cell carci...	ORPHA:90340
22Q11.2 Deletion Syndrome	Hypertensive crisis, Renal hypoplasia, Gastrointestinal hemorrhage, Vesicoureteral reflux, Hypoca...	ORPHA:567
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Mitral regurgitation, Increased circulating lactate concentration, Dilated cardiomyopathy, Mildly...	OMIM:607459
Leptospirosis	Acute kidney injury, Hypotension, Pulmonary hemorrhage, Arrhythmia, Cellular urinary casts, First...	ORPHA:509
Acute Radiation Syndrome	Telangiectasia, Hypotension	ORPHA:454831
Acromegaly	Long penis, Hypertrophic cardiomyopathy, Wide penis, Mitral regurgitation, Hypertension, Dysuria	ORPHA:963
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Renal hypoplasia, Hyperbilirubinemia, Hypertension, Renal cyst, Micropenis, Polycystic kidney dys...	OMIM:210710
Hutchinson-Gilford Progeria Syndrome	Aortic valve stenosis, Aortic regurgitation, Left ventricular systolic dysfunction, Transient isc...	ORPHA:740
Turner Syndrome Due To Structural X Chromosome Anomalies	Horseshoe kidney, Renal hypoplasia/aplasia, High urinary gonadotropin level, Ectopic kidney, Prol...	ORPHA:99413
Mosaic Monosomy X	Horseshoe kidney, Renal hypoplasia/aplasia, High urinary gonadotropin level, Ectopic kidney, Prol...	ORPHA:99228
Monosomy X	Horseshoe kidney, Renal hypoplasia/aplasia, High urinary gonadotropin level, Ectopic kidney, Prol...	ORPHA:99226
Turner Syndrome	Horseshoe kidney, Renal hypoplasia/aplasia, High urinary gonadotropin level, Ectopic kidney, Prol...	ORPHA:881
Absence Of The Pulmonary Artery	Atrial flutter, Congestive heart failure, Abnormal EKG, Reduced left ventricular ejection fractio...	ORPHA:980
Somatomammotropinoma	Hypertrophic cardiomyopathy, Dysuria, Mitral regurgitation, Hypertension	ORPHA:314769
Yunis-Varon Syndrome	Cardiomyopathy, Renal artery stenosis, Hypertension, Pulmonary arterial hypertension, Micropenis,...	ORPHA:3472
Hennekam-Beemer Syndrome	Hypotension, Arrhythmia, Telangiectasia of the skin	ORPHA:2135
Combined Oxidative Phosphorylation Deficiency 29	Increased circulating lactate concentration	OMIM:616811
3-Methylglutaconic Aciduria, Type Viii	3-Methylglutaric aciduria, Increased circulating lactate concentration, 3-Methylglutaconic acidur...	OMIM:617248
Blau Syndrome	Hypertension, Pericarditis	OMIM:186580
Combined Oxidative Phosphorylation Defect Type 29	Increased circulating lactate concentration	ORPHA:478029
Myhre Syndrome	Aortic valve stenosis, Hypertension	OMIM:139210
Mucopolysaccharidosis Type 2	Arrhythmia, Hypertension, Cardiomyopathy	ORPHA:580
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Aciduria, Increased circulating lactate concentration, Ethylmalonic aciduria, 3-Methylglutaconic ...	OMIM:203700
Neurofibromatosis, Type I	Renal artery stenosis, Hypertension	OMIM:162200
Systemic Mastocytosis With Associated Hematologic Neoplasm	Tachycardia, Hypotension, Syncope	ORPHA:98849
Aromatic L-Amino Acid Decarboxylase Deficiency	Hypotension	OMIM:608643
Central Hypoventilation Syndrome, Congenital, 1	Decreased heart rate variability, Hypoxemia, Hypercapnia	OMIM:209880
Adams-Oliver Syndrome 1	Aortic valve stenosis, Pulmonary arterial hypertension, Hypertension, Pulmonic stenosis	OMIM:100300
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Increased circulating lactate concentration	OMIM:157640
Ventilator-Induced Diaphragmatic Dysfunction	Hypercapnia	ORPHA:505395
17Q11 Microdeletion Syndrome	Hypertrophic cardiomyopathy, Renal artery stenosis, Telangiectasia of the skin, Pulmonary arteria...	ORPHA:97685
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Increased circulating lactate concentration, Hypertriglyceridemia	OMIM:619418
Neurofibromatosis Type 1	Abnormality of the upper urinary tract, Hypertension	ORPHA:636
Non-Functioning Pituitary Adenoma	Hypotension	ORPHA:91349
Neuroendocrine Neoplasm Of Appendix	Hypotension, Tricuspid stenosis, Palpitations, Heart murmur	ORPHA:100079
Cushing Syndrome Due To Ectopic Acth Secretion	Increased urinary cortisol level, Capillary fragility, Hypertension, Myocardial infarction	ORPHA:99889
Prolactinoma	Hypotension	ORPHA:2965
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Renal agenesis, Corneal neovascularizati...	OMIM:308205
Alström Syndrome	Chronic kidney disease, Detrusor sphincter dyssynergia, Dilated cardiomyopathy, Functional abnorm...	ORPHA:64
Hereditary Angioedema Type 1	Hypotension	ORPHA:100050
Keutel Syndrome	Hypertension, Pulmonic stenosis	OMIM:245150
Congenital Myopathy 13	Hypoxemia, Hypercapnia	OMIM:255995
Cerebrotendinous Xanthomatosis	Increased circulating lactate concentration	ORPHA:909
Congenital Fiber-Type Disproportion Myopathy	Hypoxemia, Hypercapnia	ORPHA:2020
Bickerstaff Brainstem Encephalitis	Hypercapnia	ORPHA:79138
Carney Complex	Hypertension, Congestive heart failure	ORPHA:1359
Plague	Hypotension, Tachycardia, Arrhythmia, Hematemesis	ORPHA:707
Non-Acquired Panhypopituitarism	Hypotension	ORPHA:90695
Combined Pituitary Hormone Deficiencies, Genetic Forms	Hypotension	ORPHA:95494

Histopathology

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

There is no histopathology data for Wnk4

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Wnk4.

No publications found that use IMPC mice or data for Wnk4.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Wnk4^{tm114920(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Wnk4^{tm366815(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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