Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

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 (1080 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, Hyperchloremic metabolic acidosis, Hyperkalemia, Hypertension	OMIM:614491

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

Disease	Matching phenotypes	Source
Pseudohypoaldosteronism, Type Iie	Hyperkalemia, Metabolic acidosis, Hypertension, Hyperchloremia, Hyperchloremic metabolic acidosis	OMIM:614496
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperchloremic metabolic acidosis, Hyperkalemia, Hypertension	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperchloremic metabolic acidosis, Hyperkalemia, Hypertension	OMIM:614495
Pseudohypoaldosteronism, Type Iic	Hyperkalemia, Metabolic acidosis, Hypertension, Decreased serum bicarbonate concentration, Hyperc...	OMIM:614492
Bartter Syndrome, Type 3	Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Hypokalemic metabolic alkalos...	OMIM:607364
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Renal insufficiency, Hypokalemic hypochloremic metabolic alkalosi...	OMIM:613090
Pseudohypoaldosteronism, Type Iia	Hyperchloremic acidosis, Hypertension, Hyperkalemia	OMIM:145260
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l...	OMIM:300971
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Hypokalemic alkalosis, Increased serum prostaglandin E2, Hypokalemia, Proximal tubulopathy, Incre...	OMIM:241150
Hypokalemic Tubulopathy And Deafness	Acidosis, Hyperaldosteronism, Increased circulating renin level, Renal salt wasting	OMIM:619406
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Metabolic alkalosis, Elevated serum bicarbonate concentration, Alkalosis, Hypochlor...	OMIM:214700
Hypocalcemia, Autosomal Dominant 1	Decreased circulating parathyroid hormone level, Nephrolithiasis, Hypercalciuria, Nephrocalcinosi...	OMIM:601198
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Elevated circulating creatine kinase concentration, Mixed respiratory and metabolic ...	OMIM:145600
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Polyuria, Nephrocalcinosis, Metabolic acidosis, Hypokalemia, Hypocalcemia, Hypomagn...	OMIM:620152
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Metabolic acidosis, Increased circulating renin level, Hypotension	OMIM:620125
East Syndrome	Renal salt wasting, Renal magnesium wasting, Metabolic alkalosis, Enuresis, Hypokalemia, Hyperald...	ORPHA:199343
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Increased circulating corticosterone level, Renal salt wasting, Decreased circulati...	OMIM:610600
Hyperchlorhidrosis, Isolated	Hyponatremia, Hyperkalemia	OMIM:143860
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Hyperparathyroidism, Hypokalemic metabolic alkalosis, Increased serum prostagla...	OMIM:601678
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Hypokalemic hypoc...	OMIM:602522
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ...	ORPHA:564178
Glomerulopathy With Fibronectin Deposits 1	Glomerulopathy, Renal insufficiency, Proteinuria, Acidosis, Stage 5 chronic kidney disease, Lobul...	OMIM:137950
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Renal salt wasting, Hyperkalemia, Metabolic acidosis, Hypotension	OMIM:264350
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium...	OMIM:618314
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Increased serum lacta...	OMIM:613845
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypokalemic metabolic alkalosis, Polyuria, Renal salt wasting, Elevated serum bicarbonate concent...	OMIM:612780
Pseudohypoaldosteronism Type 2	Hypertension, Hyperkalemia	ORPHA:757
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Polyuria, Hypercalciuria, Metabolic acidosis, Hypokalemia, Hyperaldosteronis...	OMIM:613677
Malignant Hyperthermia, Susceptibility To, 2	Lactic acidosis, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Metabolic acidosis, Hyperaldosteronism, Increased circulating renin l...	OMIM:620126
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hyperamylasemia, Impaired renal tubular reabsorption of bicarbonate, Bicarbonate-wasting renal tu...	OMIM:604278
Liddle Syndrome 1	Hypokalemic alkalosis, Renal insufficiency, Hypokalemia, Decreased circulating aldosterone level,...	OMIM:177200
Bartter Syndrome Type 4	Hyponatremia, Hypokalemic metabolic alkalosis, Renal salt wasting, Increased urinary potassium, I...	ORPHA:89938
Hypertension, Essential	Elevated mean arterial pressure, Elevated systolic blood pressure, Elevated diastolic blood pressure	OMIM:145500
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,...	OMIM:602088
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia, Ventricular arrhythmia	OMIM:141000
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Decreased circ...	OMIM:203400
Malignant Hyperthermia, Susceptibility To, 3	Lactic acidosis, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Hypomagnesemia 2, Renal	Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia	OMIM:154020
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Increased circulating reni...	ORPHA:556037
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ...	OMIM:161900
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Metabolic acidosis, Increased circulating renin level, Hypotension	OMIM:177735
Hypercalcemia, Infantile, 2	Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate...	OMIM:616963
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Myoglobinuria, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia	OMIM:609153
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Hypokalemic metabolic alkalosis, Increased serum prostaglandin E2, Polyuria, Re...	OMIM:241200
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Increased circulating reni...	ORPHA:556030
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Parathyroid agenesis, Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenital...	ORPHA:2239
Hypomagnesemia 6, Renal	Impaired renal tubular reabsorption of magnesium, Hypomagnesemia	OMIM:613882
Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Decreased urinary potassium, Renal salt wasting, Hyperkale...	ORPHA:427
Hypoadrenocorticism, Familial	Hyponatremia, Cyanosis, Hyperkalemia	OMIM:240200
Hyperkalemic Periodic Paralysis	Hyperkalemia	OMIM:170500
Apparent Mineralocorticoid Excess	Hypokalemic metabolic alkalosis, Renal insufficiency, Abnormal urine sodium concentration, Nephro...	ORPHA:320
Pentosuria	Abnormal urine carbohydrate level, Abnormal circulating carbohydrate concentration, Abnormality o...	ORPHA:2843
Hypomagnesemia 3, Renal	Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki...	OMIM:248250
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Hypertension, Multiple renal ...	OMIM:620056
Glomerulopathy With Fibronectin Deposits 2	Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di...	OMIM:601894
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypercalciuria, Nephrocalcinosis, Metabolic acidosis, Hypokalemia, Distal renal tubular acidosis	OMIM:602722
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Abnormal circulating aldosterone, Reduced blood urea nitrogen, Hypernatriuria, Hypo...	OMIM:300539
Hypercalcemia, Infantile, 1	Polyuria, Hypercalcemia, Decreased circulating parathyroid hormone level, Nephrolithiasis, Hyperc...	OMIM:143880
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Elevated urinary 3-hydroxybutyric acid, Respiratory alkalosis, Ketonuria, Increased serum lactate...	OMIM:615751
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Proteinuria, Myocardial infarction, Chronic kidney disease, Stage 5 chronic ...	ORPHA:54370
Primary Unilateral Adrenal Hyperplasia	Adrenal hyperplasia, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldoste...	ORPHA:231580
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Metabolic alk...	ORPHA:231625
Renal Hypoplasia, Bilateral	Hyponatremia, Proteinuria, Chronic kidney disease, Hyperkalemia, Renal hypoplasia, Renal cyst, Ol...	ORPHA:97362
Liddle Syndrome 2	Metabolic alkalosis, Hypertension, Hypokalemia, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Metabolic alkalosis, Hypertension, Hypokalemia, Decreased circulating renin level	OMIM:618126
Liddle Syndrome	Renal insufficiency, Hypertension, Hypokalemia, Cerebral ischemia, Nephropathy, Arrhythmia	ORPHA:526
Familial Hyperaldosteronism Type Iii	Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Metabolic alkalosis, ...	ORPHA:251274
Type 1 Diabetes Mellitus	Ketoacidosis, Diabetes mellitus, Polyuria, Decreased level of 1,5 anhydroglucitol in serum	OMIM:222100
Pyruvate Dehydrogenase Phosphatase Deficiency	Increased serum lactate, Lacticaciduria, Hyperprolinemia, Lactic acidosis, Hyperalaninemia	ORPHA:79246
Malignant Hyperthermia Of Anesthesia	Elevated creatine kinase after exercise, Hypercapnia, High-output congestive heart failure, Hyper...	ORPHA:423
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Increased serum lactate, Hyperkalemia, Metabolic acidosis, Hypoalb...	OMIM:618528
Gitelman Syndrome	Hypokalemic alkalosis, Polyuria, Renal magnesium wasting, Enuresis, Hypokalemia, Increased circul...	OMIM:263800
Iga Nephropathy, Susceptibility To, 3	Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, Hypertension,...	OMIM:616818
Nail-Patella-Like Renal Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Hypertension, Microscopic hematuria	ORPHA:2613
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N...	OMIM:179800
Apparent Mineralocorticoid Excess	Metabolic alkalosis, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating ...	OMIM:218030
Ectopic Aldosterone-Producing Tumor	Glucocortocoid-insensitive primary hyperaldosteronism, Metabolic alkalosis, Hypokalemia, Adrenoco...	ORPHA:231632
Hyperaldosteronism, Familial, Type Ii	Hypertension, Hypokalemia	OMIM:605635
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i...	OMIM:613944
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Hyponatremia	ORPHA:3225
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Metabolic alkalosis, ...	ORPHA:404
Congenital Isolated Acth Deficiency	Hyponatremia, Hyperkalemia, Hypotension	ORPHA:199296
Focal Segmental Glomerulosclerosis 2	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Hypertension, Focal segmenta...	OMIM:603965
Hsd10 Disease, Neonatal Type	Metabolic acidosis, Lactic acidosis, Hypertrophic cardiomyopathy, Abnormal concentration of acylc...	ORPHA:391457
Glycogen Storage Disease Due To Aldolase A Deficiency	Elevated creatine kinase after exercise, Hyperkalemia, Arrhythmia, Myoglobinuria, Acute kidney in...	ORPHA:57
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro...	OMIM:248190
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Glucocortocoid-insensitive primary hyperaldosteronism, Hyperkalemia, Metabolic acid...	ORPHA:171876
Colchicine Poisoning	Hyponatremia, Renal insufficiency, Abnormality of acid-base homeostasis, Abnormal blood ion conce...	ORPHA:31824
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Fibronectin Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Hypertension, Nephrotic sy...	ORPHA:84090
Nephronophthisis-Like Nephropathy 2	Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr...	OMIM:619468
Focal Segmental Glomerulosclerosis 5	Proteinuria, Stage 5 chronic kidney disease, Hypertension, Focal segmental glomerulosclerosis, Mi...	OMIM:613237
Gracile Syndrome	Increased serum pyruvate, Increased circulating ferritin concentration, Chronic lactic acidosis, ...	OMIM:603358
Mitochondrial Complex I Deficiency, Nuclear Type 35	Elevated lactate:pyruvate ratio, Elevated urinary 4-hydroxybutyric acid, Lacticaciduria, Hyperpro...	OMIM:619003
Familial Pseudohyperkalemia	Hypertension, Hyperkalemia	ORPHA:90044
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Metabolic acidosis, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis, Hy...	OMIM:611590
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Renal insufficiency, Proteinuria, Hematuria, Hypertension, Focal segmental glomerulosclerosis	OMIM:607832
Hypomagnesemia 4, Renal	Hypomagnesemia	OMIM:611718
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypokalemic metabolic alkalosis, Abnormal renal tubular resorption, Hypercalciuria, Hyperprostagl...	ORPHA:73224
Tiglic Acidemia	Aminoaciduria, Acidosis	OMIM:275190
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia, Arrhythmia	OMIM:616949
Genetic Recurrent Myoglobinuria	Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka...	ORPHA:99845
Coronary Artery Disease, Autosomal Dominant, 1	Hypertension, Hypercholesterolemia, Myocardial infarction	OMIM:608320
Mitochondrial Complex Iv Deficiency, Nuclear Type 18	Increased serum pyruvate, Increased serum lactate	OMIM:619062
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1	Hypomagnesemia	OMIM:616418
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Hyperkalemia, Renal salt wasting	OMIM:614736
Spastic Paraplegia-Nephritis-Deafness Syndrome	Nephropathy, Proteinuria, Hypertension	ORPHA:2820
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Renal insufficiency, Tachycardia, Atrial fibrillation, Cyanosis, Co...	ORPHA:31826
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Decreased circulating cortisol level, Hypospadias, Renal salt wasting, Increased ci...	ORPHA:90791
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Metabolic alkalosis, Nephrolithiasis, Hypokalemia, Primary hyperaldosteronism, Decreased circulat...	OMIM:615474
Corticosteroid-Binding Globulin Deficiency	Hypokalemia, Decreased circulating cortisol level, Decreased urinary potassium	OMIM:611489
Hyperkalemic Periodic Paralysis	Hyponatremia, Elevated circulating creatine kinase concentration, Congestive heart failure, Hyper...	ORPHA:682
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Glycosuria, Aminoaciduria, Hypertension, Hypophospha...	OMIM:618913
Hawkinsinuria	Metabolic acidosis, Abnormal circulating tyrosine concentration, 4-hydroxyphenylacetic aciduria, ...	ORPHA:2118
Acetyl-Coa Acetyltransferase-2 Deficiency	Increased serum pyruvate, Increased serum lactate	OMIM:614055
Renal Tubular Acidosis Iii	Nephrocalcinosis, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis	OMIM:267200
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Polyuria, Elevated circulating thyroid-stimulating hormone co...	OMIM:618183
Preeclampsia/Eclampsia 1	Hypertension, Proteinuria	OMIM:189800
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Increased ser...	OMIM:619743
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome	Metabolic acidosis, Hyperalaninemia	ORPHA:2597
Juvenile Nephropathic Cystinosis	Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem...	ORPHA:411634
Fanconi-Bickel Syndrome	Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Chronic acidosis, Hypercalciuria, Genera...	OMIM:227810
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Adrenal hyperplasia, Metabolic alkalosis, Abnormal circulating renin, Nephrolithiasis, Hypokalemi...	ORPHA:369929
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3	Lactic acidosis, Hypertrophic cardiomyopathy, 3-Methylglutaconic aciduria	OMIM:614053
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Alaninuria, Increased serum lactate, Metabolic acidosis	OMIM:615158
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra...	OMIM:614723
Acute Adrenal Insufficiency	Hyponatremia, Renal insufficiency, Decreased circulating cortisol level, Hypercalcemia, Adrenal h...	ORPHA:95409
Cystinosis	Renal insufficiency, Proteinuria, Nephrogenic diabetes insipidus, Renal tubular dysfunction, Hypo...	ORPHA:213
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia	OMIM:613345
Primary Fanconi Renotubular Syndrome	Low-molecular-weight proteinuria, Hypouricemia, Increased urinary potassium, Chronic kidney disea...	ORPHA:3337
Hypocalciuric Hypercalcemia, Familial, Type I	Hyperparathyroidism, Hypercalcemia, Hypermagnesemia, Nephrolithiasis, Hypercalciuria, Hypocalciur...	OMIM:145980
Sulfide:Quinone Oxidoreductase Deficiency	Lactic acidosis, Elevated circulating creatine kinase concentration	OMIM:619221
Osteopetrosis, Autosomal Recessive 9	Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperkalemia	OMIM:620366
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Primary hyp...	OMIM:145981
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Adrenogenital syndrome, Abnormality of the urinary system, Hyperaldosteronis...	OMIM:103900
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Decreased circulating cortisol level, Renal salt wasting, Hyperkalemic metabolic acidosis, Premat...	ORPHA:90794
Iga Nephropathy, Susceptibility To, 1	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i...	OMIM:161950
Intracranial Hypertension, Idiopathic	Hypertension	OMIM:243200
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Lactic acidosis, Dicarboxylic aciduria, Metabol...	OMIM:615026
Neuroleptic Malignant Syndrome	Hyponatremia, Tachycardia, Proteinuria, Urinary incontinence, Elevated circulating creatine kinas...	ORPHA:94093
Helix Syndrome	Renal insufficiency, Hyperparathyroidism, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia...	OMIM:617671
Myopathy, Isolated Mitochondrial, Autosomal Dominant	Increased serum lactate, Elevated circulating creatine kinase concentration	OMIM:616209
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal insufficiency, Hyperkalemia, Renal hypoplasia, Tubulointers...	OMIM:617595
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Sudden cardiac death, Myocardial infarction, Increased LDL cholesterol conc...	OMIM:610947
Malignant Hyperthermia, Susceptibility To, 4	Acidosis	OMIM:600467
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T4 conce...	OMIM:613239
Combined Oxidative Phosphorylation Deficiency 52	Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Increas...	OMIM:619386
Abdominal Obesity-Metabolic Syndrome 1	Hypertension	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Hypertension	OMIM:605572
3-Hydroxyisobutyric Aciduria	Ketoacidosis, Lactic acidosis, Aminoaciduria, Episodic ketoacidosis	OMIM:236795
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormality of thyroid physiology, Abnormal blood ion concentration, Abnormal ...	ORPHA:411629
Cystinosis, Nephropathic	Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets...	OMIM:219800
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Increased circulati...	ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti...	ORPHA:289548
Focal Segmental Glomerulosclerosis 1	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:603278
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Premature pubarche, Premature thelarche, Renal salt wasting...	ORPHA:90795
Mitochondrial Complex I Deficiency, Nuclear Type 24	Increased serum lactate	OMIM:618245
Maternally-Inherited Diabetes And Deafness	Glomerulopathy, Renal insufficiency, Proteinuria, Congestive heart failure, Hypertension, Arrhyth...	ORPHA:225
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab...	OMIM:600740
Pituitary Adenoma 4, Acth-Secreting	Pituitary adenoma, Nephrolithiasis, Alkalosis, Increased circulating ACTH level, Hypokalemia	OMIM:219090
Cholera	Hyponatremia, Abnormality of renal excretion, Acidosis, Abnormal blood ion concentration, Lactic ...	ORPHA:173
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Abnormal circulating renin, Hypokalemia, Dexamethasone-suppressible primary ...	ORPHA:403
Neurodevelopmental Disorder With Language Delay And Seizures	Hypothyroidism, Hypomagnesemia	OMIM:619908
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat...	ORPHA:567544
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Increased urine succinate level, Increased serum lactate, Congestive heart failure, Decreased pla...	OMIM:619048
Combined Oxidative Phosphorylation Deficiency 44	Increased serum lactate, Hypertrophic cardiomyopathy	OMIM:618855
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hyperphosphaturia, Hypercalcemia, Polyuria, Primary hyperparathyroidism, Hypercalciur...	OMIM:239200
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein c...	OMIM:613095
Addison Disease	Hyponatremia, Hypoparathyroidism, Decreased circulating cortisol level, Hypercalcemia, Adrenal ca...	ORPHA:85138
Trimethylaminuria	Hypertension, Tachycardia, Trimethylaminuria	OMIM:602079
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Metabolic acidosis, Cardiomyopathy, Ethylmaloni...	ORPHA:26792
Preeclampsia	Proteinuria, Abnormality of the kidney, Chronic kidney disease, Elevated circulating creatinine c...	ORPHA:275555
Lipoyltransferase 1 Deficiency	Increased serum lactate, Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninuria, Lactic a...	OMIM:616299
Intellectual Developmental Disorder, Autosomal Recessive 1	Increased serum lactate	OMIM:249500
Renal Glucosuria	Glycosuria, Polyuria, Enuresis nocturna	OMIM:233100
Distal Renal Tubular Acidosis	Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,...	ORPHA:18
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To	Metabolic acidosis, Increased level of L-pyroglutamic acid in urine	OMIM:231900
Isolated Glycerol Kinase Deficiency	Metabolic acidosis, Elevated circulating creatine kinase concentration	ORPHA:408
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ...	OMIM:615703
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav...	ORPHA:101016
Blue Diaper Syndrome	Hypercalcemia, Nephrocalcinosis, Blue urine, Metabolic acidosis, Hyperphosphatemia	ORPHA:94086
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased circulating cortisol level, Male hypogonadism, Micropenis, Decreased circulating renin ...	ORPHA:90793
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Elevated circulating creatinine concentration, Metabolic acidosis, Glycosuria,...	OMIM:615605
Dihydropyrimidinase Deficiency	Elevated circulating dihydrouracil concentration, Elevated circulating uracil concentration, Meta...	OMIM:222748
Orthostatic Hypotension 1	Reduced circulating prolactin concentration, Hypomagnesemia, Nocturia, Increased blood urea nitrogen	OMIM:223360
Gitelman Syndrome	Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Tubulointerstitial nephriti...	ORPHA:358
Methylmalonyl-Coa Epimerase Deficiency	Ketonuria, Methylmalonic aciduria, Elevated circulating palmitoleylcarnitine concentration, Metab...	OMIM:251120
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia	OMIM:170400
Idiopathic Hypercalciuria	Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalate nephrolith...	ORPHA:2197
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Metabo...	OMIM:611555
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome...	ORPHA:567548
Senior-Loken Syndrome 4	Stage 5 chronic kidney disease, Polyuria, Nephronophthisis	OMIM:606996
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Increased serum pyruvate, Increased serum lactate, Hyperammonemia, Metabolic acidosis, Elevated c...	OMIM:615160
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Elevated circulating creatine kinase concentration, Ketoacidosis, Dilated cardiomyopathy, Hyperam...	OMIM:618120
Galactosemia I	Increased level of galactitol in plasma, Metabolic acidosis, Albuminuria, Aminoaciduria, Galactos...	OMIM:230400
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Cyanosis, Increased serum lactate, Metabolic acidosis, Low-output congestive heart failure, Lacti...	ORPHA:91130
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Glycos...	OMIM:308990
Mitochondrial Pyruvate Carrier Deficiency	Increased serum pyruvate, Lactic acidosis, Organic aciduria, Increased serum lactate	OMIM:614741
Dihydrolipoamide Dehydrogenase Deficiency	Increased serum pyruvate, Ketoacidosis, Lactic acidosis, Metabolic acidosis, Hypertrophic cardiom...	OMIM:246900
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Nephrogenic diabetes insipidus, Hypernatremia, Megacystis, Polyuria	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Hypernatremia, Megacystis, Polyuria, Diabetes insipidus	OMIM:304800
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hypertension, Polycystic kidney dysplasia, Reduced renal corticom...	OMIM:617610
Glycogen Storage Disease Xi	Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinase concentration...	OMIM:612933
Combined Oxidative Phosphorylation Deficiency 28	Increased serum pyruvate, Congestive heart failure, Increased serum lactate, Severe lactic acidosis	OMIM:616794
Familial Glucocorticoid Deficiency	Hyponatremia, Recurrent urinary tract infections, Renal salt wasting, Hyperkalemia, Hypernatriuri...	ORPHA:361
Combined Oxidative Phosphorylation Deficiency 9	Elevated lactate:pyruvate ratio, Increased serum lactate, Ketoacidosis, Metabolic acidosis, Tubul...	OMIM:614582
Cryoglobulinemia, Familial Mixed	Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Hy...	OMIM:123550
Snakebite Envenomation	Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral is...	ORPHA:449285
Pyruvate Dehydrogenase E1-Beta Deficiency	Lactic acidosis, Hyperammonemia	OMIM:614111
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing...	ORPHA:79102
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, Sinus tachycardia, Elevated circulating creatine kinase concentration, Hyp...	ORPHA:466650
Mitochondrial Trifunctional Protein Deficiency 2	Increased circulating NT-proBNP concentration, Tricuspid regurgitation, Recurrent myoglobinuria, ...	OMIM:620300
Necrotizing Enterocolitis	Shock, Hyponatremia, Increased serum lactate, Metabolic acidosis, Bradycardia, Hypotension, Acidosis	ORPHA:391673
2P21 Microdeletion Syndrome	Lactic acidosis, Hypocalcemia, Nephrolithiasis, Cystinuria	ORPHA:163693
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext...	ORPHA:329918
Autosomal Dominant Hypocalcemia	Hypercalciuria, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypermagnesiuria	ORPHA:428
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:175500
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Metabolic alkalosis, I...	ORPHA:786
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Respiratory alkalosis, Low plasma citrulline, Hyperammonemia, Episodic ammonia intoxication, Hypo...	OMIM:237300
Uremic Pruritus	Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k...	ORPHA:94059
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Adrenocortical adenoma, Mildly elevated creatine kinase	ORPHA:681
Combined Oxidative Phosphorylation Deficiency 16	Increased serum lactate, Hypertrophic cardiomyopathy	OMIM:615395
Mitochondrial Myopathy With Lactic Acidosis	Increased serum pyruvate, Lactic acidosis, Elevated serum anion gap, Increased serum lactate	OMIM:251950
Coenzyme Q10 Deficiency, Primary, 3	Increased serum lactate, Nephrotic syndrome, Proteinuria, Hypoalbuminemia	OMIM:614652
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Familial Hypocalciuric Hypercalcemia	Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ...	ORPHA:405
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia, Hyperthyroidism, Goiter	OMIM:188580
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hyponatremia, Hypotension	ORPHA:91354
Hemorrhagic Fever-Renal Syndrome	Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis...	ORPHA:340
Isovaleric Acidemia	Metabolic acidosis	ORPHA:33
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome	Lactic acidosis, Decreased circulating ferritin concentration	ORPHA:330054
Refractory Celiac Disease	Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia	ORPHA:398063
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev...	OMIM:171420
Citrullinemia, Classic	Respiratory alkalosis, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Elevated...	OMIM:215700
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H...	ORPHA:47159
Combined Oxidative Phosphorylation Deficiency 24	Metabolic alkalosis, Focal segmental glomerulosclerosis, Increased serum lactate, Elevated circul...	OMIM:616239
Kenny-Caffey Syndrome, Type 1	Congenital hypoparathyroidism, Hypocalcemia, Hypomagnesemia	OMIM:244460
Pearson Syndrome	Hypoparathyroidism, Elevated lactate:pyruvate ratio, Renal insufficiency, Diabetes mellitus, Prot...	ORPHA:699
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:256100
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hypertension	OMIM:166990
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hypertension, Cardiomyopathy, Hyperuricemia, Arrhythmia	ORPHA:3222
Acute Peripheral Arterial Occlusion	Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Supraventricular tachyc...	ORPHA:90064
Pyruvate Carboxylase Deficiency	Increased serum pyruvate, Increased serum lactate, Proximal renal tubular acidosis, Lactic acidos...	OMIM:266150
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant	Lactic acidosis, Hypertrophic cardiomyopathy, Organic aciduria	OMIM:617184
Denys-Drash Syndrome	Proteinuria, Hypertension, Nephrotic syndrome, Nephropathy, Nephroblastoma	ORPHA:220
Amyloidosis, Familial Visceral	Proteinuria, Hematuria, Nephrotic syndrome, Hypertension, Nephropathy	OMIM:105200
Pyruvate Dehydrogenase E3 Deficiency	Increased urine alpha-ketoglutarate concentration, Abnormal cardiac ventricular function, Elevate...	ORPHA:2394
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St...	OMIM:612925
Citrullinemia Type I	Elevated plasma citrulline, Respiratory alkalosis, Hyperammonemia	ORPHA:247525
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612926
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612924
Coproporphyria, Hereditary	Increased urinary porphobilinogen, Tachycardia, Hypertension, Elevated urinary delta-aminolevulin...	OMIM:121300
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Congenital adrenal hyperplasia, Long penis, Decreased circulating aldosterone level, Adrenogenita...	OMIM:202010
Gracile Syndrome	Increased circulating ferritin concentration, Lactic acidosis, Renal Fanconi syndrome, Elevated h...	ORPHA:53693
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinase concentration...	ORPHA:2364
Mitochondrial Myopathy, Infantile, Transient	Increased serum pyruvate, Lactic acidosis, Increased serum lactate, Elevated circulating creatine...	OMIM:500009
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Aminoaciduria, Acidosis	OMIM:204730
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Increased serum lactate, Hyperprolinemia, Lactic acidosis, Cardiomyopat...	OMIM:619046
Hsd10 Mitochondrial Disease	Lactic acidosis, Hypertrophic cardiomyopathy, Elevated circulating tiglylglycine concentration, M...	OMIM:300438
Cardiomyopathy, Dilated, 2C	Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopat...	OMIM:618189
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Increased serum lactate, Chronic lactic acidosis, Lactic acidosis, Meta...	OMIM:312170
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Increased serum lactate, Metabolic acidosis, Hyperammonemia	OMIM:620137
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Respiratory alkalosis, Elevated circulating uracil concentration, Hyperglutaminemia, Low plasma c...	OMIM:311250
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hyperphosphaturia, Proteinuria, Hypouricemia, Hypophosphatemia, Nephrocalcinosis, Metabolic acido...	OMIM:616026
Sulfite Oxidase Deficiency, Isolated	Sulfocysteinuria, Elevated circulating creatine kinase concentration, Increased urinary sulfite l...	OMIM:272300
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Hypertension, Decreased circulating renin level	OMIM:605115
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2	Lacunar stroke, Hypertension, Transient ischemic attack	OMIM:616779
Mirage Syndrome	Hyponatremia, Recurrent urinary tract infections, Hypospadias, Hyperkalemia, Intracranial hemorrh...	OMIM:617053
Late-Onset Isolated Acth Deficiency	Hyponatremia, Orthostatic hypotension, Hypercalcemia, Hyperkalemia, Hyperuricemia, Hypotension	ORPHA:199299
Hypouricemia, Renal, 1	Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub...	OMIM:220150
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Tricuspid regurgitation, Increased serum lactate, Hyperammonemia, Lactic acidosis, Pulmonary arte...	OMIM:619051
Hawkinsinuria	Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Metabolic acid...	OMIM:140350
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Increased serum pyruvate, Hyperalaninemia, Lactic acidosis, Metabolic acidosis	OMIM:245349
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hyperthyroidism, Abnormality of the endocrine system, Abnormal blood ion concentration, Thyroidit...	ORPHA:37042
Combined Oxidative Phosphorylation Deficiency 10	Increased serum lactate, Hyperammonemia, Lactic acidosis, Metabolic acidosis, Bradycardia, Hypera...	OMIM:614702
Non-Functioning Paraganglioma	Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive heart failu...	ORPHA:94080
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Atrial fibrillation, Proteinuria, Recurrent urinary tract infections, Dysuri...	ORPHA:976
Primary Hyperoxaluria Type 1	Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ...	ORPHA:93598
Rhabdoid Tumor	Renal neoplasm, Hypercalcemia, Hematuria, Hypertension, Internal hemorrhage	ORPHA:69077
Adenosine Monophosphate Deaminase Deficiency	Increased serum lactate, Elevated creatine kinase after exercise	ORPHA:45
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Hypospadias, Scrotal hypospadias, Hyperkalemia, Perineal hypospadias, Microphallus,...	OMIM:201810
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
Combined Oxidative Phosphorylation Deficiency 38	Wolff-Parkinson-White syndrome, Increased serum lactate, Lactic acidosis, Hyperalaninemia, Hypert...	OMIM:618378
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Renal salt wasting, Hyperkalemia, Abnormal urine potassium co...	ORPHA:275761
Dent Disease 2	Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Nephr...	OMIM:300555
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Increased serum lactate, Mildly elevated creatine kinase	ORPHA:457050
Argininosuccinic Aciduria	Respiratory alkalosis, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Aminoaci...	OMIM:207900
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertension, Hypertriglyceridemia	ORPHA:71529
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Central Diabetes Insipidus	Hyponatremia	ORPHA:178029
Hereditary Fructose Intolerance	Renal insufficiency, Chronic kidney disease, Hypermagnesemia, Metabolic acidosis, Hyperuricemia, ...	ORPHA:469
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Increased serum lactate, Hematuria, Hypertension, Second degree atrioventricular block, Lactic ac...	OMIM:617021
Combined Oxidative Phosphorylation Deficiency 30	Elevated lactate:pyruvate ratio, Hyperalaninemia, Lactic acidosis, Increased serum lactate	OMIM:616974
Combined Malonic And Methylmalonic Acidemia	Dicarboxylic acidemia, Methylmalonic acidemia, Dicarboxylic aciduria, Ketoacidosis, Methylmalonic...	ORPHA:289504
Multiple Mitochondrial Dysfunctions Syndrome 5	Increased serum lactate, Elevated circulating creatine kinase concentration	OMIM:617613
Gaisböck Syndrome	Hypertriglyceridemia, Diabetes mellitus, Nephrocalcinosis, Hypernatriuria, Hyperproteinemia, Incr...	ORPHA:90041
Pheochromocytoma/Paraganglioma Syndrome 6	Hypertension	OMIM:618464
Infant Botulism	Hyponatremia, Hypertension, Cardiac arrest, Hypotension	ORPHA:178478
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Lactic acidosis, Increased serum lactate, Elevated circulating creatine kinase concentration, Hyp...	OMIM:618416
Combined Oxidative Phosphorylation Deficiency 43	Increased serum lactate, Elevated circulating creatine kinase concentration	OMIM:618851
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Increased serum pyruvate, Increased serum lactate	OMIM:545000
Renal Tubular Acidosis, Proximal	Hyperchloremic acidosis, Renal tubular acidosis, Proximal renal tubular acidosis	OMIM:179830
Glucocorticoid Resistance, Generalized	Metabolic alkalosis, Increased circulating ACTH level, Increased circulating cortisol level, Incr...	OMIM:615962
Mercury Poisoning	Hypokalemia, Acute kidney injury	ORPHA:330021
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Abnormal circulating biopterin concentration, Maturity-onset diabetes of the young, Hyperphenylal...	ORPHA:1578
Hydroxykynureninuria	Tachycardia, Abnormal circulating tryptophan concentration, Metabolic acidosis, Renal tubular aci...	ORPHA:79155
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Proteinuria, Atrial fibrillation, Cardiac ...	ORPHA:439232
Lessel-Kubisch Syndrome	Hypertension, Renal insufficiency, Renal hypoplasia	OMIM:618681
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Congestive heart failure, Nephrocalcinosis, Hyper...	OMIM:614473
Pyridoxal Phosphate-Responsive Seizures	Abnormal circulating glycine concentration, Abnormal circulating tyrosine concentration, Abnormal...	ORPHA:79096
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Increased serum pyruvate, Increased serum lactate, Congestive heart failure, Dilated cardiomyopat...	ORPHA:1349
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Increased serum lactate, Elevated circulating creatine kinase concentration	OMIM:617069
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Increased level of hippuric acid in urine, Glutaric aciduria, Hyperammonemia, Metabolic acidosis,...	OMIM:246450
Mitochondrial Complex I Deficiency, Nuclear Type 4	Increased serum pyruvate, Increased serum lactate, Metabolic acidosis	OMIM:618225
Methanol Poisoning	Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Hyperlipidemia, Permanent ...	ORPHA:31825
Lipodystrophy, Familial Partial, Type 5	Hypertension, Hypertriglyceridemia, Diabetic ketoacidosis, Increased C-peptide level	OMIM:615238
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	ORPHA:90362
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Elevated lactate:pyruvate ratio, Ketonuria, Metabolic ketoacidosis, Increased serum lactate, Keto...	OMIM:615453
Combined Oxidative Phosphorylation Deficiency 8	Increased serum lactate, Congestive heart failure, Lactic acidosis, Metabolic acidosis, Reduced l...	OMIM:614096
Mitochondrial Complex I Deficiency, Nuclear Type 26	Elevated lactate:pyruvate ratio, Increased serum lactate, Metabolic acidosis, Lacticaciduria	OMIM:618247
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Increased serum lactate, Hyperglycinemia, Lacticaciduria	OMIM:619063
Familial Cervical Artery Dissection	Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral hemorrhage, Hypertension, ...	ORPHA:36382
Malonyl-Coa Decarboxylase Deficiency	Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy, Methylmalonic aciduria, La...	OMIM:248360
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Renal hypoplasia, Nephrocalcinosis, Hypokalemia, Aminoaciduria, Hypocal...	OMIM:617913
Nelson Syndrome	Increased urinary cortisol level, Pituitary corticotropic cell adenoma, Adrenocorticotropic hormo...	ORPHA:199244
Combined Oxidative Phosphorylation Deficiency 23	Increased serum lactate, Congestive heart failure, Dilated cardiomyopathy, Lactic acidosis, Arrhy...	OMIM:616198
Multiple Mitochondrial Dysfunctions Syndrome 3	Elevated lactate:pyruvate ratio, Lactic acidosis, Metabolic acidosis, Hyperglycinemia, Beta-amino...	OMIM:615330
Cystic Hamartoma Of Lung And Kidney	Hypertension, Multicystic kidney dysplasia	ORPHA:2111
Combined Oxidative Phosphorylation Deficiency 31	Lactic acidosis, Hyperalaninemia, Hypertrophic cardiomyopathy, Increased serum lactate	OMIM:617228
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Combined Oxidative Phosphorylation Deficiency 5	Increased serum lactate, Hyperammonemia, Lactic acidosis, Metabolic acidosis, Hypertrophic cardio...	OMIM:611719
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Lactic acidosis, Aminoaciduria, Elevated circulating creatine kinase concentration	OMIM:609560
Leprechaunism	Long penis, Hyperinsulinemia, Hypercalciuria, Central hypothyroidism, Nephrocalcinosis, Hypokalem...	ORPHA:508
Posttransplant Acute Limbic Encephalitis	Hyponatremia	ORPHA:163921
Familial Isolated Hyperparathyroidism	Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Primary hyperparathyroidism, Hypercalciuri...	ORPHA:99879
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Anuria, Myocarditis, Hyperkalemia, Oliguria, Hypertension, Hypocalcemia, Acute kidn...	ORPHA:544482
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Hyperkalemia	ORPHA:90790
3-Methylglutaconic Aciduria Type 4	Lactic acidosis, Cardiomyopathy, 3-Methylglutaconic aciduria	ORPHA:67048
Combined Oxidative Phosphorylation Deficiency 4	Increased serum lactate, Lactic acidosis, Metabolic acidosis, Hyperammonemia	OMIM:610678
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Lactic acidosis, Increased serum lactate, Abnormal circulating pyruvate family amino acid concent...	ORPHA:255182
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Type I diabetes mellitus, Proximal tubulopathy, Polyuria	OMIM:560000
Hsd10 Disease, Infantile Type	Cyanosis, Increased serum lactate, Hyperammonemia, Lactic acidosis, Metabolic acidosis, Hypertrop...	ORPHA:391428
Melorheostosis With Osteopoikilosis	Hypertension	ORPHA:1879
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Increased serum pyruvate, Hyperalaninemia, Lactic acidosis, Increased serum lactate	OMIM:617668
Multiple Mitochondrial Dysfunctions Syndrome 1	Increased urine alpha-ketoglutarate concentration, Increased serum lactate, Lacticaciduria, Hyper...	OMIM:605711
Mitochondrial Complex I Deficiency, Nuclear Type 30	Metabolic acidosis, Congestive heart failure	OMIM:301021
Mitochondrial Complex I Deficiency, Nuclear Type 11	Wolff-Parkinson-White syndrome, Increased serum lactate, Congestive heart failure, Lactic acidosi...	OMIM:618234
Developmental And Epileptic Encephalopathy 53	Increased serum lactate, Elevated circulating creatine kinase concentration	OMIM:617389
Mitochondrial Complex I Deficiency, Nuclear Type 29	Elevated lactate:pyruvate ratio, Increased serum lactate, Stage 5 chronic kidney disease, Lactica...	OMIM:618250
D-Glyceric Aciduria	Increased circulating free fatty acid level, Nonketotic hyperglycinemia, Hyperglycinuria, Metabol...	ORPHA:941
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hyperparathyroidism, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis	OMIM:239199
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Congestive heart failure, Abnormal left ventricular function, Hyp...	OMIM:540000
Encephalopathy, Ethylmalonic	Lactic acidosis, Elevated circulating butyrylcarnitine concentration, Acrocyanosis, Ethylmalonic ...	OMIM:602473
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Elevated lactate:pyruvate ratio, Lactic acidosis, Increased serum lactate, Severe lactic acidosis	OMIM:616111
Lactic Acidosis, Chronic Adult Form	Hyperuricemia, Chronic lactic acidosis	OMIM:150170
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Conjugated hyperbilirubinemia, Hyperkalemia	OMIM:608885
Combined Oxidative Phosphorylation Deficiency 34	Increased serum lactate, Lactic acidosis, Elevated circulating creatinine concentration, Increase...	OMIM:617872
Osteootohepatoenteric Syndrome	Hypokalemia, Proteinuria, Grade II vesicoureteral reflux, Increased serum bile acid concentration	OMIM:619377
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast...	OMIM:613388
Combined Oxidative Phosphorylation Deficiency 20	Lactic acidosis, Hyperalaninemia, Hypertrophic cardiomyopathy	OMIM:615917
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Proteinuria, Abnormality of the kidney, Hyperlipidemia, Postprandial hyperlactemia, Hypertrophic ...	ORPHA:369
Sengers Syndrome	Cardiac arrest, Sudden cardiac death, Exercise-induced lactic acidemia, Increased serum lactate, ...	OMIM:212350
Lipoid Congenital Adrenal Hyperplasia	Congenital adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Renal salt wasting	OMIM:201710
Hypotonia-Cystinuria Syndrome	Increased serum lactate, Nephrolithiasis, Cystinuria, Lactic acidosis, Hypocalcemia, Cystine crys...	OMIM:606407
Heme Oxygenase 1 Deficiency	Proteinuria, Epistaxis, Elevated circulating C-reactive protein concentration, Diffuse alveolar h...	OMIM:614034
Primary Hyperoxaluria	Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Heart block, Raynaud phenomenon, Arteri...	ORPHA:416
Pheochromocytoma	Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev...	OMIM:171300
Combined Oxidative Phosphorylation Deficiency 6	Increased serum pyruvate, Increased serum lactate	OMIM:300816
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Methylmalonic acidemia, Increased serum lactate, Methylma...	OMIM:614105
Brachydactyly-Arterial Hypertension Syndrome	Hypertension	ORPHA:1276
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Elevated circulating creatine kinase concentration, Increased serum lactate, Chronic kidney disea...	ORPHA:324525
Senior-Loken Syndrome	Hypertension, Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis	ORPHA:3156
Hereditary Coproporphyria	Hyponatremia, Abnormal circulating porphyrin concentration, Tachycardia	ORPHA:79273
Lethal Infantile Mitochondrial Myopathy	Cardiomyopathy, Renal insufficiency, Severe lactic acidosis	ORPHA:254857
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Increased serum lactate, Lactic acidosis, Pulmonary arterial hypertension, Hyperglycinemia, Hyper...	OMIM:619059
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis	OMIM:606995
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Proteinuria, Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular acidosis, Aminoacidur...	OMIM:613404
Rabson-Mendenhall Syndrome	Increased pineal volume, Precocious puberty, Insulin-resistant diabetes mellitus, Long penis, Fas...	ORPHA:769
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Increased serum lactate, Hyperammonemia, Lactic acidosis, 3-Methylglutaconic aciduria, Hyperalani...	OMIM:614739
Glutaric Acidemia Type 3	Ketonuria, Ketoacidosis, Glutaric aciduria, Abnormality of circulating enzyme level, Elevated cir...	ORPHA:35706
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Anuria, Elevated circulating creatinine concentration, Hemoglobinuria, Hypokalemia,...	ORPHA:90038
Glycogen Storage Disease Ixa1	Lactic acidosis, Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia	OMIM:306000
Coenzyme Q10 Deficiency, Primary, 5	Lactic acidosis, Hyperalaninemia, Increased serum lactate, Bradycardia	OMIM:614654
Pyloric Stenosis, Infantile Hypertrophic, 1	Hypochloremic metabolic alkalosis	OMIM:179010
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Hyperkalemia, Hypotension	ORPHA:293978
Bardet-Biedl Syndrome 17	Polyuria, Stage 5 chronic kidney disease, Renal cyst, Hypogonadism, Micropenis	OMIM:615994
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Increased serum lactate, Cardiomyopathy, Supraventricular arrhythmia	ORPHA:320360
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Myocardia...	OMIM:618620
Isovaleric Acidemia	Ketoacidosis, Cerebellar hemorrhage, Metabolic acidosis, Hyperglycinuria	OMIM:243500
Hypertension And Brachydactyly Syndrome	Hypertension	OMIM:112410
Coenzyme Q10 Deficiency, Primary, 8	Renal dysplasia, Hypertension, Elevated circulating creatinine concentration, Abnormal renal cort...	OMIM:616733
Pseudohypoparathyroidism, Type Ib	Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypo...	OMIM:603233
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Lactic acidosis, Metabolic acidosis, Organic aciduria, Elevated urinary 3-methylc...	OMIM:253270
Fanconi-Bickel Syndrome	Hyperphosphaturia, Hypertriglyceridemia, Hypercalciuria, Generalized aminoaciduria, Hypophosphate...	ORPHA:2088
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hyperphosphaturia, Hypercalciuria, Nephrolithiasis, Renal phosphate wasting, Hypophosphatemia	OMIM:612286
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia	ORPHA:1345
Perrault Syndrome 5	Increased serum pyruvate, Increased serum lactate, Elevated circulating creatine kinase concentra...	OMIM:616138
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis...	OMIM:610205
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Ketonuria, Increased serum lactate, Renal hypoplasia, Metabolic acidosis, Hypertrophic cardiomyop...	OMIM:619053
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Nephropathy, Nephrotic syndrome, Proteinuria, Hypertension	ORPHA:1192
3-Methylglutaconic Aciduria, Type I	Metabolic acidosis, 3-Methylglutaconic aciduria, Urinary incontinence	OMIM:250950
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Metabolic ketoacidosis, Cerebellar hemorrhage, Stage 5 chronic kidney dis...	OMIM:251000
Triokinase And Fmn Cyclase Deficiency Syndrome	Lactic acidosis, Dilated cardiomyopathy, Hypoalbuminemia, Reduced systolic function	OMIM:618805
Glucose/Galactose Malabsorption	Metabolic acidosis, Glycosuria	OMIM:606824
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Raynaud phenomenon, Arterial...	OMIM:259900
Propionic Acidemia	Increased level of hippuric acid in urine, Cerebellar hemorrhage, Hyperglycinuria, Hyperammonemia...	OMIM:606054
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Increased serum lactate, Metabolic acidosis	OMIM:610090
2,4-Dienoyl-Coa Reductase Deficiency	Increased serum lactate, Metabolic acidosis, Hyperlysinuria, Decreased plasma free carnitine, Hyp...	OMIM:616034
Intellectual Developmental Disorder, Autosomal Dominant 70	Hyponatremia, Retinal telangiectasia	OMIM:620157
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Adrenocorticotropic hormone excess, Adrenal insufficiency, Hyperaldosteronism, Renal salt wasting	OMIM:613743
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Beta-Ketothiolase Deficiency	Ketonuria, Increased serum lactate, Ketoacidosis, Hyperammonemia, Metabolic acidosis, Hypertensio...	ORPHA:134
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Lactic acidosis, Aminoaciduria, Proximal tubulopathy, Severe lactic acidosis	OMIM:612075
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypertension, Hypospadias, Renal salt wasting	OMIM:201910
Lipodystrophy, Familial Partial, Type 4	Hypertension, Hypertriglyceridemia	OMIM:613877
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Acute hyperammonemia, Ketonuria, Ketoacidosis, Hyperglycinuria, Hyperammonemia, Metabolic acidosi...	OMIM:210210
Mitochondrial Complex I Deficiency, Nuclear Type 15	Increased serum lactate, Hypertrophic cardiomyopathy, Metabolic acidosis	OMIM:618237
Lipodystrophy, Familial Partial, Type 6	Hypertension, Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating crea...	OMIM:615980
Glutathione Synthetase Deficiency	Increased level of L-pyroglutamic acid in urine, Chronic metabolic acidosis	OMIM:266130
Scorpion Envenomation	Respiratory alkalosis, Increased circulating NT-proBNP concentration, Ketonuria, Abnormality of a...	ORPHA:466677
Polyarteritis Nodosa	Pericarditis, Abnormality of the kidney, Elevated circulating C-reactive protein concentration, R...	ORPHA:767
Plin1-Related Familial Partial Lipodystrophy	Hypertension, Hypertriglyceridemia	ORPHA:280356
Nephronophthisis 18	Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Hypertension, Tubulointer...	OMIM:615862
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Severe X-Linked Mitochondrial Encephalomyopathy	Increased serum pyruvate, Increased serum lactate	ORPHA:238329
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Ketonuria, Elevated circulating creatine kinase concentration, Cardiac arrest, Elevated circulati...	OMIM:616878
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	3-hydroxydicarboxylic aciduria, Elevated circulating dodecanoylcarnitine concentration, Increased...	OMIM:619355
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:613550
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Hypertension, Polycystic kidney dysplasia, D...	OMIM:618061
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Increased serum lactate, Elevated circulating creatine kinase concentration	OMIM:617070
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:203780
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Renal insufficiency, Hyperparathyroidism, Proteinuria, Hypercalcemia	ORPHA:2668
Legionnaires Disease	Hyponatremia, Pericarditis, Myocarditis, Hypotension, Arrhythmia	ORPHA:549
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia	OMIM:612287
Oxoglutarate Dehydrogenase Deficiency	Increased serum lactate, Metabolic acidosis, Congenital lactic acidosis	OMIM:203740
Small Cell Carcinoma Of The Bladder	Dysuria, Recurrent urinary tract infections, Hematuria, Hypercalcemia	ORPHA:284400
Mitochondrial Complex I Deficiency, Nuclear Type 6	Increased serum lactate, Lactic acidosis, Metabolic acidosis, Severe lactic acidosis, Hypertrophi...	OMIM:618228
Sporadic Pheochromocytoma/Secreting Paraganglioma	Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestiv...	ORPHA:276621
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy	Increased serum lactate	OMIM:619196
Coach Syndrome 2	Hypertension, Hyperechogenic kidneys, Elevated circulating creatinine concentration	OMIM:619111
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Hyponatr...	ORPHA:534
Multicentric Carpotarsal Osteolysis Syndrome	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Bilateral renal a...	OMIM:166300
Pseudo-Torch Syndrome 3	Proteinuria, Cerebral hemorrhage, Increased circulating ferritin concentration, Hypertension, Acu...	OMIM:618886
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia, Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Episodic metabol...	OMIM:210200
Ochoa Syndrome	Recurrent urinary tract infections, Renal insufficiency, Urinary incontinence, Urethral obstructi...	ORPHA:2704
Combined Oxidative Phosphorylation Deficiency 45	Increased serum lactate, Cardiac arrest	OMIM:618951
Whipple Disease	Gastrointestinal hemorrhage, Hyponatremia, Pericarditis, Myocardial infarction, Myocarditis, Hypo...	ORPHA:3452
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal...	OMIM:229600
Mitochondrial Complex I Deficiency, Nuclear Type 22	Elevated lactate:pyruvate ratio, Lactic acidosis, Hypertrophic cardiomyopathy	OMIM:618243
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Respiratory alkalosis, Hyperammonemia, Hyperornithinemia, Oroticaciduria, Abnormal circulating ci...	ORPHA:415
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula...	ORPHA:730
Sneddon Syndrome	Intracranial hemorrhage, Nephropathy, Hypertension	ORPHA:820
Porphyria Due To Ala Dehydratase Deficiency	Hyponatremia, Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin ...	ORPHA:100924
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Congestive heart failure, Hy...	ORPHA:247353
Teratoma, Pineal	Polyuria	OMIM:273120
Mitochondrial Complex I Deficiency, Nuclear Type 32	Hyponatremia, Increased serum lactate, Metabolic acidosis	OMIM:618252
Acyl-Coa Dehydrogenase 9 Deficiency	Dicarboxylic aciduria, Sudden cardiac death, Elevated circulating acylcarnitine concentration, Co...	ORPHA:99901
Maple Syrup Urine Disease	Lactic acidosis, Increased level of hippuric acid in urine, Elevated circulating branched chain a...	OMIM:248600
Amelogenesis Imperfecta, Type Ig	Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis	OMIM:204690
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Hypokalemic alkalosis, Adrenal hyperplasia, Adrenogenital syndrome	OMIM:202110
Mitochondrial Complex I Deficiency, Nuclear Type 34	Metabolic acidosis, Lactic acidosis	OMIM:618776
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Ketonuria, Cyanosis, Low plasma citrulline, Renal steatosis, Lactic acidosis	OMIM:261680
Wolcott-Rallison Syndrome	Hyponatremia, Ketoacidosis, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia	ORPHA:1667
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Elevated lactate:pyruvate ratio, Lacticaciduria, Methylmalonic aciduria, Lactic acidosis, Hypergl...	OMIM:245400
Liver Failure, Infantile, Transient	3-hydroxydicarboxylic aciduria, Dicarboxylic aciduria, Increased serum lactate, Lacticaciduria, L...	OMIM:613070
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri...	ORPHA:94088
Tetanus	Tachycardia, Elevated circulating creatine kinase concentration, Elevated urinary norepinephrine ...	ORPHA:3299
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)	Increased urine alpha-ketoglutarate concentration, Lactic acidosis, Increased serum lactate	OMIM:614458
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:26791
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Metabolic acidosis, Myoglobinuria	OMIM:602199
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Metabolic acidosis, Bradycardia, Hyp...	OMIM:617222
Mitochondrial Dna Depletion Syndrome 17	Acidosis, Low plasma citrulline, Hyperammonemia	OMIM:618567
Lipodystrophy, Familial Partial, Type 1	Hypertension, Hypertriglyceridemia	OMIM:608600
Adrenal Hypoplasia, Congenital	Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl...	OMIM:300200
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Cerebral vasculitis, Hyponatremia	ORPHA:83601
Mitochondrial Complex I Deficiency, Nuclear Type 13	Cardiac arrest, Metabolic acidosis, Bradycardia, Hypertrophic cardiomyopathy, Acidosis	OMIM:618235
Combined Oxidative Phosphorylation Deficiency 21	Increased serum lactate, Hyperalaninemia, Hyperprolinemia	OMIM:615918
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Elevated circulating creatine kinase concentration, Increased serum lactate, Dilate...	OMIM:610505
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia, Increased urinary glycerol, Intermittent lactic acidemia, Lactic acidosis, Metabolic...	ORPHA:348
Combined Oxidative Phosphorylation Deficiency 36	Increased serum lactate, Hyperalaninemia, Aciduria	OMIM:617950
Aica-Ribosuria Due To Atic Deficiency	Hyponatremia	OMIM:608688
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypospadias, Dilated cardiomyopathy, Micropenis, Lactic acidosis, Bradycardia, Hypertrophic cardi...	OMIM:618815
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, E...	ORPHA:228308
Combined Oxidative Phosphorylation Deficiency 1	Elevated lactate:pyruvate ratio, Increased serum lactate, Metabolic acidosis	OMIM:609060
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Hyperammonemia, ...	OMIM:251100
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Increased circulating osteocalcin level, Hyperphosphaturia, Decreased circulating parathyroid hor...	ORPHA:157215
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p...	ORPHA:3282
Atrial Fibrillation, Familial, 14	ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval	OMIM:615378
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert	Hypertension, Telangiectases producing 'marbled' skin	OMIM:206570
Porphyria Variegata	Hyponatremia, Neurogenic bladder, Tachycardia, Abnormal circulating porphyrin concentration, Chro...	ORPHA:79473
Phenformin 4-Hydroxylation	Lactic acidosis	OMIM:261590
Mitochondrial Complex I Deficiency, Nuclear Type 33	Hypospadias, Increased serum lactate, Hyperammonemia, Lactic acidosis, Metabolic acidosis	OMIM:618253
Glycogen Storage Disease Ic	Renal insufficiency, Proteinuria, Spider hemangioma, Hyperlipidemia, Hematuria, Focal segmental g...	OMIM:232240
Vipoma	Diabetes mellitus, Hypercalcemia, Follicular thyroid carcinoma, Elevated circulating growth hormo...	ORPHA:97282
Stiff Skin Syndrome	Hypertension, Abnormal circulating lipid concentration, Nephrolithiasis	ORPHA:2833
Isolated Atp Synthase Deficiency	Dilated cardiomyopathy, Renal hypoplasia, Hyperammonemia, Lactic acidosis, 3-Methylglutaconic aci...	ORPHA:254913
Mitochondrial Complex Ii Deficiency, Nuclear Type 4	Increased urine alpha-ketoglutarate concentration, Increased serum lactate, Increased serum pyruvate	OMIM:619224
Herpes Simplex Virus Encephalitis	Hyponatremia, Elevated circulating C-reactive protein concentration	ORPHA:1930
Adult Acute Respiratory Distress Syndrome	Shock, Vasculitis, Hypoxemia, Metabolic acidosis, Diabetic ketoacidosis, Abnormal blood gas level...	ORPHA:70578
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Increased serum lactate, Proximal renal tubular acidosis, Lactic acidosis, Metabolic acidosis, Co...	OMIM:615824
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Increased serum lactate, Cardiomyopathy, Abnormal circulating creatine kinase concentration, Abno...	ORPHA:521411
Analbuminemia	Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu...	OMIM:616000
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Tricuspid regurgitation, Metabolic acidosis, Lactic acidosis, Reduced left ...	OMIM:616501
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Macroscopic hematuria, Hype...	ORPHA:251004
Primary Hyperoxaluria Type 3	Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri...	ORPHA:93600
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Hyperglutamatemia, Increased serum lactate, Low plasma citrulline, Hyperammonemia, Hyperprolinemi...	OMIM:620358
Mitochondrial Trifunctional Protein Deficiency 1	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	OMIM:609015
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Renal phosphate wasting, Hypophosphatemia	OMIM:193100
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Severe lactic acidosis, Mildly elevated creatine kinase, Decreased circulating carnitine concentr...	ORPHA:254864
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Ketonuria, Methylmalonic aciduria, Hyperammonemia, Metabolic acidosis, Hy...	OMIM:251110
Hyperaldosteronism, Familial, Type Iv	Hypertension	OMIM:617027
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Tachycardia, Elevated circulating creatine kinase concentration, Increased...	ORPHA:26793
Mitochondrial Phosphate Carrier Deficiency	Metabolic acidosis, Lactic acidosis, Hypertrophic cardiomyopathy, Cyanosis	OMIM:610773
Medullary Sponge Kidney	Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria	ORPHA:1309
Moyamoya Disease With Early-Onset Achalasia	Raynaud phenomenon, Hypertension	ORPHA:401945
Pseudohypoparathyroidism Type 2	Calcinosis, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid hormone...	ORPHA:94090
Ethylmalonic Encephalopathy	Lactic acidosis, Acrocyanosis, Ethylmalonic aciduria	ORPHA:51188
Combined Malonic And Methylmalonic Aciduria	Ketoacidosis, Methylmalonic aciduria	OMIM:614265
Cirrhosis, Familial	Increased level of propylene glycol in blood, Hypertension, Pulmonary arterial hypertension, Incr...	OMIM:215600
Juvenile Paget Disease	Hypertension, Hyperuricemia	ORPHA:2801
Potocki-Shaffer Syndrome	Hypertension, Micropenis, Nephroblastoma	ORPHA:52022
Alg8-Cdg	Hyponatremia	ORPHA:79325
Monocarboxylate Transporter 1 Deficiency	Ketoacidosis, Ketonuria	OMIM:616095
Glutaric Acidemia I	Metabolic acidosis, Glutaric aciduria, Ketonuria, Elevated circulating glutaric acid concentration	OMIM:231670
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye...	ORPHA:93110
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Elevated circulating creatine kinase concentration, Increased serum lactate, Heart murmur, Severe...	OMIM:615418
Glycogen Storage Disease Ia	Proteinuria, Hyperlipidemia, Nephrolithiasis, Lactic acidosis, Focal segmental glomerulosclerosis...	OMIM:232200
Glycogen Storage Disease 0, Liver	Increased serum lactate	OMIM:240600
Hypoparathyroidism, Familial Isolated, 2	Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalcemia, Hypocalcemic se...	OMIM:618883
Hypophosphatemic Rickets And Hyperparathyroidism	Hyperparathyroidism, Hypercalcemia, Parathyroid hyperplasia, Renal phosphate wasting, Elevated ci...	OMIM:612089
Mitochondrial Complex I Deficiency, Nuclear Type 3	Metabolic acidosis	OMIM:618224
Combined Oxidative Phosphorylation Deficiency 17	Lactic acidosis, Congestive heart failure, Hypertrophic cardiomyopathy	OMIM:615440
Oligomeganephronia	Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl...	ORPHA:2260
Dent Disease	Renal insufficiency, Hyperphosphaturia, Renal hypophosphatemia, Elevated circulating creatine kin...	ORPHA:1652
Combined Oxidative Phosphorylation Deficiency 18	Increased serum lactate, Lactic acidosis, Methylmalonic aciduria	OMIM:615578
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Increased serum lactate, Congestive heart failure, Lactic acidosis, Metabolic acidosis, Hypertrop...	ORPHA:70472
Juvenile Polyposis Syndrome	Hypokalemia, Hypoalbuminemia	OMIM:174900
Glutaric Aciduria Iii	Glutaric aciduria, Hypertension	OMIM:231690
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N...	OMIM:300009
Mitochondrial Complex I Deficiency, Nuclear Type 14	Increased serum lactate, Lactic acidosis, Hypertrophic cardiomyopathy	OMIM:618236
Coenzyme Q10 Deficiency, Primary, 2	Aortic regurgitation, Elevated lactate:pyruvate ratio, Increased serum lactate, Mitral regurgitat...	OMIM:614651
Familial Dysautonomia	Hyponatremia, Hypertension, Orthostatic hypotension, Tachycardia	ORPHA:1764
Mitochondrial Complex I Deficiency, Nuclear Type 23	Increased serum lactate	OMIM:618244
Hereditary Pheochromocytoma-Paraganglioma	Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestiv...	ORPHA:29072
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Hemolytic-uremic syn...	OMIM:277400
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Elevated circulating creatine kinase concentration, Increased serum lactate, Intraventricular hem...	OMIM:619055
Frasier Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc...	ORPHA:347
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Hypospadias, Increased serum lactate, Hyperammonemia, Lactic acidosis, Hypertension, 3-Methylglut...	OMIM:614052
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Pulmonary embolism, Hyperlipidemia, Chronic kidney disease, St...	ORPHA:567546
Succinic Acidemia	Lactic acidosis	OMIM:600335
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Hypertension, Mitral regurgitation, Renal insufficiency, Polycystic kidney dysplasia	OMIM:173900
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia...	OMIM:603553
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection...	ORPHA:66529
Myopathy With Lactic Acidosis, Hereditary	Elevated circulating creatine kinase concentration, Increased serum lactate, Lactic acidosis, Pal...	OMIM:255125
Tsh-Secreting Pituitary Adenoma	Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis...	ORPHA:91347
Mitochondrial Complex Iv Deficiency, Nuclear Type 11	Increased serum lactate, Elevated circulating creatine kinase concentration	OMIM:619054
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Metabolic...	OMIM:208085
Nephroblastoma	Hematuria, Hypertension, Nephroblastoma	ORPHA:654
Arima Syndrome	Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R...	OMIM:243910
Pituitary Apoplexy	Hyponatremia, Hypertension, Hypotension	ORPHA:95613
Mitochondrial Myopathy, Lethal, Infantile	Lactic acidosis	OMIM:551000
Combined Oxidative Phosphorylation Deficiency 41	Lactic acidosis, Elevated circulating creatine kinase concentration	OMIM:618838
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Lactic acidosis, Hypoalbuminemia, Hyperthreoninemia, Ket...	ORPHA:247598
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Methylmalonic acidemia, Elevated circulating creatine kinase concentration, Increased serum lacta...	OMIM:612073
D-Glyceric Aciduria	Nonketotic hyperglycinemia, Metabolic acidosis, Aminoaciduria, Bradycardia, Micropenis	OMIM:220120
Cardiomyopathy, Familial Restrictive, 3	Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation...	OMIM:612422
Lactase Deficiency, Congenital	Metabolic acidosis	OMIM:223000
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Elevated lactate:pyruvate ratio, Hyperglutamatemia, I...	ORPHA:3008
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Metabolic acidosis, Medium chain dicarboxylic aciduria, Hyperglycinuria	OMIM:201450
Fructose-1,6-Bisphosphatase Deficiency	Metabolic acidosis, Tachycardia, Increased urinary glycerol	OMIM:229700
Acute Intermittent Porphyria	Hyponatremia, Dark urine, Renal insufficiency, Tachycardia, Urinary incontinence, Dysuria, Porphy...	ORPHA:79276
Acute Liver Failure	Hyperammonemia, Alkalosis, Adrenal insufficiency, Acidosis, Acute kidney injury	ORPHA:90062
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Ketonuria, Elevated circulating creatine kinase concentration, Increased serum lactate, Lactic ac...	OMIM:251900
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Prolonged QT interval, Dicarboxylic aciduria, I...	ORPHA:71212
Developmental And Epileptic Encephalopathy 82	Increased serum lactate, Hyperammonemia	OMIM:618721
Morgagni-Stewart-Morel Syndrome	Hypercholesterolemia, Hypertension, Hyperuricemia	ORPHA:77296
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Aa Amyloidosis	Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Renal amyloid...	ORPHA:85445
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Increased serum lactate, Metabolic acidosis	OMIM:617290
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Cyanosis, Hyperlipidemia, Hyperkalemia, Enuresis	ORPHA:293987
Tricarboxylic Acid Cycle, Defect Of	Persistent lactic acidosis	OMIM:275370
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Increased serum pyruvate, Elevated lactate:pyruvate ratio, Cardiac arrest, Increased serum lactat...	OMIM:604377
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypertension, Hyperuricemia	OMIM:604367
Neuroblastoma, Susceptibility To, 1	Elevated urinary catecholamine level, Elevated urinary dopamine level, Abnormality of urine catec...	OMIM:256700
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Hyperuricemia, Uric acid...	ORPHA:411536
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc...	OMIM:211900
Coenzyme Q10 Deficiency, Primary, 1	Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Lactic ...	OMIM:607426
Bacterial Toxic-Shock Syndrome	Shock, Renal insufficiency, Recurrent urinary tract infections, Tachycardia, Elevated circulating...	ORPHA:36234
Fabry Disease	Renal insufficiency, Proteinuria, Angina pectoris, Myocardial infarction, Transient ischemic atta...	OMIM:301500
Adenohypophysitis	Hyponatremia, Orthostatic hypotension	ORPHA:95512
Andersen Cardiodysrhythmic Periodic Paralysis	Hypokalemia, Hyperthyroidism	OMIM:170390
Grange Syndrome	Aortic regurgitation, Hypertension	ORPHA:79094
Coenzyme Q10 Deficiency, Primary, 4	Elevated lactate:pyruvate ratio, Lactic acidosis, Increased serum lactate	OMIM:612016
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Rabin-Pappas Syndrome	Hyponatremia, Retinal telangiectasia	OMIM:620155
Glycogen Storage Disease Ib	Proteinuria, Hyperlipidemia, Nephrolithiasis, Lactic acidosis, Focal segmental glomerulosclerosis...	OMIM:232220
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Stress/infection-induced lactic acidosis, Abnormal circulating carnitine concentration, Renal tub...	ORPHA:431361
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Orthostatic hypotension, Tachycardia, Elevated circulating creatinine concentration, Hypertension...	OMIM:223900
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch...	ORPHA:90065
Combined Oxidative Phosphorylation Deficiency 19	Lactic acidosis, Metabolic acidosis, Lacticaciduria	OMIM:615595
Tyrosinemia, Type I	Hypertyrosinemia, Gastrointestinal hemorrhage, Renal insufficiency, Elevated circulating alpha-fe...	OMIM:276700
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Lactic acidosis, Hypertrophic cardiomyopathy	ORPHA:1369
Mitochondrial Complex I Deficiency, Nuclear Type 36	Increased serum lactate, Hyperalaninemia, Hyperprolinemia	OMIM:619170
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,...	OMIM:235400
Multiple Endocrine Neoplasia, Type Iia	Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated urinary epinephr...	OMIM:171400
Moyamoya Disease 6 With Or Without Achalasia	Raynaud phenomenon, Hypertension, Ischemic stroke	OMIM:615750
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hypertension, Polycystic kidney dysplasia	OMIM:600666
Glycogen Storage Disease Ixc	Increased serum lactate, Lactic acidosis, Hypertriglyceridemia	OMIM:613027
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertension, Hypertriglyceridemia	ORPHA:363400
Beta-Ureidopropionase Deficiency	Increased serum lactate, Elevated circulating N-carbamyl-beta-alanine concentration, Bladder exst...	OMIM:613161
Marburg Hemorrhagic Fever	Renal insufficiency, Abnormality of acid-base homeostasis, Elevated circulating creatine kinase c...	ORPHA:99826
Panhypophysitis	Hyponatremia, Orthostatic hypotension	ORPHA:95513
Combined Oxidative Phosphorylation Deficiency 33	Elevated circulating creatine kinase concentration, Cardiac arrest, Increased serum lactate, Lact...	OMIM:617713
Mitochondrial Complex I Deficiency, Nuclear Type 5	Lactic acidosis, Increased serum lactate, Metabolic acidosis	OMIM:618226
Hypophosphatemic Rickets, X-Linked Recessive	Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypophosphatemia, N...	OMIM:300554
Arterial Calcification, Generalized, Of Infancy, 1	Myocardial infarction, Congestive heart failure, Dilated cardiomyopathy, Hypertension, Renal arte...	OMIM:208000
Combined Oxidative Phosphorylation Deficiency 48	Increased serum lactate, Lactic acidosis	OMIM:619012
Renal Hypodysplasia/Aplasia 1	Hypertension, Bilateral renal agenesis, Proteinuria, Renal dysplasia	OMIM:191830
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hyperalaninemia, Pulmonary arterial hypertension, Increased serum lactate, Hyperprolinemia	OMIM:619064
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Lactic acidosis, Cardiomyopathy, Hypertrophic cardiomyopathy	OMIM:615119
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Increased serum lactate, Abnormal medullary pyramid morphology, Lactic ...	ORPHA:79243
Glucose-Galactose Malabsorption	Hypernatremia, Hypercalcemia	ORPHA:35710
Igg4-Related Retroperitoneal Fibrosis	Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Elevated cir...	ORPHA:49041
Combined Oxidative Phosphorylation Deficiency 14	Lactic acidosis, Aminoaciduria, Increased serum lactate, Elevated hepatic iron concentration	OMIM:614946
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Elevated circulating creatine kinase concentration, Stress/infectio...	OMIM:618775
Combined Oxidative Phosphorylation Deficiency 42	Lactic acidosis, Cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:618839
Thrombotic Thrombocytopenic Purpura, Hereditary	Transient ischemic attack, Proteinuria, Myocardial infarction, Hemolytic-uremic syndrome, Increas...	OMIM:274150
Combined Oxidative Phosphorylation Deficiency 40	Lactic acidosis, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:618835
Paroxysmal Nocturnal Hemoglobinuria	Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Myocardial infarction, P...	ORPHA:447
Microvillus Inclusion Disease	Nephrocalcinosis, Metabolic acidosis, Hypovolemia, Abnormal renal physiology	ORPHA:2290
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio...	OMIM:615812
Mitochondrial Complex I Deficiency, Nuclear Type 7	Lactic acidosis, Hypertrophic cardiomyopathy	OMIM:618229
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Elevated circulating acylcarnitine concentration, Increased serum lactate, Lactic acidosis, Abnor...	OMIM:615838
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Transient ischemic attack, Cerebral hemorrhage, Stress urinary incontinence, Intracranial hemorrh...	ORPHA:136
Peripartum Cardiomyopathy	Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card...	ORPHA:563
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Increased serum lactate, Mildly elevated creatine kinase	ORPHA:663
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1	Lactic acidosis, Hyperalaninemia, Increased serum lactate, Elevated circulating hexacosanoic acid...	OMIM:614388
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Portal hypertension, Chronic kidney disease, Renal a...	ORPHA:84081
Mitochondrial Complex I Deficiency, Nuclear Type 39	Lactic acidosis, Hypertrophic cardiomyopathy, Hypospadias	OMIM:620135
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Proteinuria, Raynaud phenomenon, Elevated circulating creatinine con...	ORPHA:247691
Schimke Immuno-Osseous Dysplasia	Proteinuria, Transient ischemic attack, Minimal change glomerulonephritis, Congestive heart failu...	ORPHA:1830
3-Methylglutaconic Aciduria Type 9	Increased serum lactate, 3-Methylglutaconic aciduria, Urinary incontinence	ORPHA:505216
Acute Interstitial Pneumonia	Cyanosis, Elevated circulating C-reactive protein concentration, Elevated circulating creatinine ...	ORPHA:79126
Alport Syndrome 1, X-Linked	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ...	OMIM:301050
Shigellosis	Hyponatremia, Myocarditis, Hypovolemic shock, Abnormal blood ion concentration	ORPHA:810
Sheehan Syndrome	Hyponatremia, Palpitations, Orthostatic hypotension, Bradycardia	ORPHA:91355
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Tricuspid regurgitation, Ketonuria, Dilated cardiomyopathy, Lacticaciduria, Lactic acidosis, Mitr...	OMIM:619167
Porphyria, Acute Intermittent	Tachycardia, Dysuria, Urinary incontinence, Hypertension, Urinary retention, Elevated urinary del...	OMIM:176000
Mitochondrial Complex I Deficiency, Nuclear Type 18	Lactic acidosis, Hydroureter, Hydronephrosis	OMIM:618240
Takayasu Arteritis	Myocardial infarction, Vasculitis, Hypertension, Cerebral ischemia, Pulmonary arterial hypertensi...	ORPHA:3287
Carnitine-Acylcarnitine Translocase Deficiency	Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Oliguria, Hyperammonemia...	ORPHA:159
Aicardi-Goutieres Syndrome 9	Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Pericarditis, Portal hypert...	OMIM:619487
Sepsis In Premature Infants	Tachycardia, Cyanosis, Elevated circulating C-reactive protein concentration, Oliguria, Metabolic...	ORPHA:90051
3-Hydroxy-3-Methylglutaric Aciduria	Ketonuria, Cardiac arrest, Increased serum lactate, Dilated cardiomyopathy, Hyperammonemia, Metab...	ORPHA:20
Hypercalciuria, Absorptive, 2	Hypercalciuria, Calcium oxalate nephrolithiasis	OMIM:143870
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hyperphosphaturia, Proteinuria, Increased serum lactate, Renal tubular dysfunction, Lactic acidos...	OMIM:220110
Mitochondrial Complex I Deficiency, Nuclear Type 20	Dicarboxylic aciduria, Congestive heart failure, Dilated cardiomyopathy, Lactic acidosis, Hypertr...	OMIM:611126
Combined Oxidative Phosphorylation Deficiency 37	Increased serum lactate, Lactic acidosis, 3-Methylglutaconic aciduria, Hypoalbuminemia, Hyperalan...	OMIM:618329
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Calcium nephrolithiasis, Decreased circulating parathyroid hormone level, Abnormal circulating ca...	OMIM:241530
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Lactic acidosis, Increased serum lactate	ORPHA:139485
Combined Oxidative Phosphorylation Deficiency 47	Increased serum lactate, Metabolic acidosis	OMIM:618958
Renal Tubular Dysgenesis	Renotubular dysgenesis, Abnormality of the urinary system, Anuria, Hypotension	OMIM:267430
Eosinophilic Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Recurrent intrapulmonary hemorrhage, Proteinuria, Transient ...	ORPHA:183
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency	Elevated urinary 3-hydroxybutyric acid, Ketonuria, Episodic ketoacidosis	OMIM:245050
Alport Syndrome	Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo...	ORPHA:63
Pyruvate Dehydrogenase Phosphatase Deficiency	Lactic acidosis	OMIM:608782
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Lactic acidosis, Hypertrophic cardiomyopathy, Increased serum lactate	OMIM:613561
Carnitine-Acylcarnitine Translocase Deficiency	Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiac arrest, Ventri...	OMIM:212138
Familial Partial Lipodystrophy, Köbberling Type	Hypertension	ORPHA:79084
Coenzyme Q10 Deficiency, Primary, 7	Increased serum lactate, Hypertrophic cardiomyopathy, Bradycardia	OMIM:616276
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Prolonged QT interval, Abnormal EKG, Ketonuria, Elevated circulating creatine kinase concentratio...	ORPHA:480864
Neurodegeneration With Brain Iron Accumulation 8	Increased serum lactate	OMIM:617917
Immunodeficiency 87 And Autoimmunity	Metabolic acidosis, Hypokalemia, Hypertriglyceridemia, Elevated circulating C-reactive protein co...	OMIM:619573
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Lactic acidosis, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hyperglycinemia	OMIM:614299
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr...	ORPHA:189427
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Lactic acidosis, Aminoaciduria, Renal ...	ORPHA:436271
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Hypokalemia	OMIM:618426
Mitochondrial Complex I Deficiency, Nuclear Type 17	Lactic acidosis, Increased serum lactate	OMIM:618239
Spinocerebellar Ataxia, Autosomal Recessive 30	Increased serum pyruvate, Increased serum lactate, Elevated circulating creatine kinase concentra...	OMIM:619405
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Glomerulopathy, Hemolytic-uremic syndrome, Hyperhomocystinemia, Hypertension	ORPHA:2169
Acquired Generalized Lipodystrophy	Hypertriglyceridemia, Proteinuria, Abnormal cardiovascular system physiology, Cardiomyopathy, Hyp...	ORPHA:79086
Paganini-Miozzo Syndrome	Elevated lactate:pyruvate ratio, Hyperalaninemia, Increased serum lactate, Urinary incontinence	OMIM:301025
3-Methylglutaconic Aciduria, Type Ix	Increased serum lactate, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Urinary incontin...	OMIM:617698
Combined Oxidative Phosphorylation Deficiency 11	Renal insufficiency, Increased serum lactate, Renal hypoplasia, Renal cyst, Lactic acidosis, Rena...	OMIM:614922
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Elevated lactate:pyruvate ratio, Increased serum lactate, Stress/infection-induced lactic acidosi...	OMIM:252011
Mitochondrial Complex I Deficiency, Nuclear Type 25	Lactic acidosis	OMIM:618246
Glutathione Synthetase Deficiency	Chronic metabolic acidosis	ORPHA:32
Chronic Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529808
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia, Hypercalciuria	OMIM:242050
Acute Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529799
Alg12-Cdg	Hyponatremia, Hypoalbuminemia, Hypocholesterolemia	ORPHA:79324
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Tachycardia, Proteinuria, Metabolic ketoacidosis, Abnormal circulating fatty-acid concentration, ...	ORPHA:263455
Kearns-Sayre Syndrome	Lactic acidosis, Renal tubular acidosis, Cardiomyopathy, Renal Fanconi syndrome, Third degree atr...	OMIM:530000
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma...	OMIM:231680
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Hypertension	OMIM:615954
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated circulating creatine kinase concentration, Congestive heart failure, Dilated cardiomyopa...	OMIM:615895
Mitochondrial Complex I Deficiency, Nuclear Type 8	Increased serum lactate, Lactic acidosis	OMIM:618230
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Hypospadias, Vesicovaginal fistula, Hyperkalemia, Horseshoe kidney, Hypertension, C...	OMIM:201750
Hypophosphatemic Rickets, X-Linked Dominant	Abnormal circulating calcium concentration, Renal tubular dysfunction, Renal phosphate wasting, E...	OMIM:307800
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Increased serum lactate, Hypertrophic cardiomyopathy, Bradycardia	OMIM:616277
Overlap Myositis	Elevated circulating creatine kinase concentration, Abnormality of the kidney, Raynaud phenomenon...	ORPHA:206572
Car T Cell Therapy-Associated Cytokine Release Syndrome	Acute kidney injury, Elevated circulating creatinine concentration, Decreased urine output, Hyper...	ORPHA:542323
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Renal insufficiency, Membranoproliferative glomerulonephritis, Prote...	ORPHA:91139
Pparg-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Congestive heart failure, Hypertension, Hyperuricemia, Hypertrophic cardiom...	ORPHA:79083
Nephrogenic Diabetes Insipidus	Hypernatremia, Hypovolemia	ORPHA:223
Combined Oxidative Phosphorylation Deficiency 2	Lactic acidosis, Increased serum lactate	OMIM:610498
Lujo Hemorrhagic Fever	Shock, Renal insufficiency, Elevated circulating C-reactive protein concentration, Myocarditis, O...	ORPHA:319213
Renal Agenesis	Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, H...	ORPHA:411709
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Lactic acidosis, Increased circulating ferritin concentration, Increased serum lactate	OMIM:600462
Alstrom Syndrome	Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Congestive he...	OMIM:203800
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Proteinuria, Glomerulonephritis, Elevated circulating creatin...	ORPHA:90068
Inflammatory Skin And Bowel Disease, Neonatal, 2	Hypertension	OMIM:616069
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Unilateral renal agenesis, Urinary urgency...	OMIM:619503
Acquired Methemoglobinemia	Tachycardia, Syncope, Palpitations, Arrhythmia, Acidosis	ORPHA:464453
Fumarase Deficiency	Increased urine succinate level, Bilateral fetal pyelectasis, Elevated urine fumaric acid level, ...	OMIM:606812
Serotonin Syndrome	Tachycardia, Lactic acidosis, Hypertension, Hypotension, Acute kidney injury	ORPHA:43116
Mitochondrial Complex Iii Deficiency, Nuclear Type 4	Increased serum lactate	OMIM:615159
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Hypospadias, Increased serum lactate, Hyperammonemia, Lactic acidosis, Renal tubular acidosis, Ar...	OMIM:615471
Erythrocytosis, Familial, 1	Hypertension, Cerebral hemorrhage, Myocardial infarction	OMIM:133100
Sneddon Syndrome	Hypertension, Ischemic stroke, Cerebral hemorrhage	OMIM:182410
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov...	OMIM:264800
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Lactic acidosis	OMIM:619065
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Portal hypertension, Elevated circulating alpha-fetoprotein concentration, Generalized aminoacidu...	OMIM:251880
Mitochondrial Complex I Deficiency, Nuclear Type 2	Increased serum pyruvate, Hypertrophic cardiomyopathy, Increased serum lactate, Hypercapnia	OMIM:618222
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Glomerulopathy, Ketonuria, Renal insufficiency, Pulmon...	ORPHA:79282
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Nephropathy, Glomerulop...	ORPHA:324
Seckel Syndrome 10	Hypertriglyceridemia, Elevated hemoglobin A1c, Congestive heart failure, Hypertension, Glycosuria	OMIM:617253
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypernatremia, Hypoalbuminemia, Pulmonic stenosis	OMIM:615508
Chédiak-Higashi Syndrome	Hyponatremia, Hypertriglyceridemia, Epistaxis, Increased circulating ferritin concentration, Hypo...	ORPHA:167
Amish Lethal Microcephaly	Metabolic acidosis, Organic aciduria	ORPHA:99742
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Hypertension, Micropenis, Tachycardia	OMIM:613870
Congenital Tricuspid Stenosis	Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,...	ORPHA:95459
Japanese Encephalitis	Hyponatremia	ORPHA:79139
3-Hydroxyisobutyric Aciduria	Lactic acidosis	ORPHA:939
Mitochondrial Complex I Deficiency, Nuclear Type 19	Lactic acidosis, Hypertrophic cardiomyopathy	OMIM:618241
Combined Oxidative Phosphorylation Deficiency 32	Lactic acidosis, Increased serum lactate, Horseshoe kidney	OMIM:617664
Xfe Progeroid Syndrome	Hypertension, Renal insufficiency, Hypoalbuminemia, Proteinuria	OMIM:610965
Glycerol Kinase Deficiency	Increased urinary glycerol, Hypertriglyceridemia, Hyperglycerolemia, Ketoacidosis, Metabolic acid...	OMIM:307030
Systemic Lupus Erythematosus 17	Raynaud phenomenon, Mitral regurgitation, Hypertensive crisis	OMIM:301080
Spinocerebellar Ataxia With Epilepsy	Increased serum lactate, Hyperalaninemia	ORPHA:254881
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Increased serum lactate	ORPHA:330050
Mitochondrial Myopathy And Sideroblastic Anemia	Lactic acidosis	ORPHA:2598
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Increased serum lactate, Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic acid...	OMIM:604273
Diarrhea 12, With Microvillus Atrophy	Metabolic acidosis	OMIM:619445
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Hypertension, Dilated cardiomyopathy, Ischemic stroke, Cerebral hemorrhage	ORPHA:280679
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp...	OMIM:617729
Relapsing Fever	Tachycardia, Epistaxis, Elevated circulating C-reactive protein concentration, Elevated circulati...	ORPHA:91547
X-Linked Hypohidrotic Ectodermal Dysplasia	Hypertension	ORPHA:181
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Elevated hemoglobin A1c, Increased serum lactate, Renal tubular dysfunction, Lactic acidosis, Gly...	OMIM:616539
Leigh Syndrome	Increased serum lactate, Congestive heart failure, Ketoacidosis, Lacticaciduria, Methylmalonic ac...	ORPHA:506
Mitochondrial Complex I Deficiency, Nuclear Type 12	Increased serum lactate	OMIM:301020
Combined Oxidative Phosphorylation Defect Type 23	Wolff-Parkinson-White syndrome, Cyanosis, Congestive heart failure, Severely reduced left ventric...	ORPHA:444013
Pearson Marrow-Pancreas Syndrome	Hypercalciuria, Lactic acidosis, Metabolic acidosis, 3-Methylglutaric aciduria, Renal Fanconi syn...	OMIM:557000
Mitochondrial Complex I Deficiency, Nuclear Type 37	Hypospadias, Increased serum lactate, Lactic acidosis, Bradycardia, Pulmonary arterial hypertension	OMIM:619272
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Lactic acidosis, Aminoaciduria, Ketonuria	OMIM:614520
Caudal Regression Syndrome	Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Abnormality of the ure...	ORPHA:3027
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Elevated lactate:pyruvate ratio, Increased serum lactate, Lacticaciduria, Lacti...	OMIM:124000
Diarrhea 4, Malabsorptive, Congenital	Hyperchloremic metabolic acidosis	OMIM:610370
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Increased serum lactate, Metabolic acidosis	ORPHA:88639
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Hypertension, Renal cor...	OMIM:613159
Striatonigral Degeneration, Infantile, Mitochondrial	Increased serum lactate	OMIM:500003
Stevens-Johnson Syndrome	Abnormality of the urethra, Hypokalemic metabolic alkalosis, Renal insufficiency, Dysuria	ORPHA:36426
Schimke Immunoosseous Dysplasia	Renal insufficiency, Proteinuria, Transient ischemic attack, Stage 5 chronic kidney disease, Foca...	OMIM:242900
Holoprosencephaly	Hyponatremia, Arrhythmia	ORPHA:2162
Leukodystrophy, Hypomyelinating, 4	Increased serum lactate, Ethylmalonic aciduria	OMIM:612233
Mitochondrial Complex I Deficiency, Nuclear Type 16	Lactic acidosis	OMIM:618238
Bardet-Biedl Syndrome	Nephrotic syndrome, Hypoplasia of penis, Multicystic kidney dysplasia, Hypertension	ORPHA:110
Coach Syndrome 1	Unilateral renal agenesis, Portal hypertension, Multiple small medullary renal cysts, Stage 5 chr...	OMIM:216360
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differentiation, Hema...	OMIM:263200
Ganglioneuroma	Gastrointestinal hemorrhage, Hypertension	ORPHA:251992
Postinfectious Vasculitis	Abnormal circulating protein concentration, Cerebral vasculitis, Membranoproliferative glomerulon...	ORPHA:48435
Riboflavin Transporter Deficiency	Hypertension	ORPHA:97229
Sickle Cell Disease	Hematuria, Hypertension, Renal insufficiency, Hypoxemia	OMIM:603903
Familial Cerebral Saccular Aneurysm	Intracranial hemorrhage, Hypertension, Transient ischemic attack, Subarachnoid hemorrhage	ORPHA:231160
Barth Syndrome	Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur...	OMIM:302060
Obesity Due To Sim1 Deficiency	Postural hypotension with compensatory tachycardia, Hypotension	ORPHA:369873
Autosomal Recessive Hypophosphatemic Rickets	Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Renal phosphate wastin...	ORPHA:289176
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Right bundle branch block, Increased serum lactate, Elevated circulating creatine kinase concentr...	OMIM:616479
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Lactic acidosis, Renal ...	ORPHA:264580
Mitochondrial Neurogastrointestinal Encephalomyopathy	Lactic acidosis, Hyperalaninemia	ORPHA:298
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Lactic acidosis, Renal ...	ORPHA:79240
Postorgasmic Illness Syndrome	Hypertension, Palpitations	ORPHA:279947
Lead Poisoning	Decreased HDL cholesterol concentration, Chronic kidney disease, Renal tubular dysfunction, Tubul...	ORPHA:330015
Yellow Fever	Shock, Renal insufficiency, Anuria, Elevated circulating creatine kinase concentration, Supravent...	ORPHA:99829
Systemic Capillary Leak Syndrome	Renal insufficiency, Pericarditis, Myocarditis, Oliguria, Hypotension, Arrhythmia, Abnormal renal...	ORPHA:188
Interstitial Lung And Liver Disease	Hypoxemia, Lactic acidosis, Aminoaciduria, Hyperammonemia	OMIM:615486
Cerebrooculofacioskeletal Syndrome 1	Metabolic acidosis	OMIM:214150
Immunodeficiency 44	Increased serum lactate	OMIM:616636
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Cardiomyopathy, Episodic metabolic acidosis, Ethylmalonic aciduria	OMIM:201470
Neurodegeneration And Seizures Due To Copper Transport Defect	Tricuspid regurgitation, Increased serum lactate, Glandular hypospadias, Abnormal circulating cer...	OMIM:620306
Duplication Of Urethra	Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence...	ORPHA:237
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Proteinuria, Epistaxis, Hyperlipidemia, Stage 5 chronic kidney disease, Nep...	ORPHA:79259
Pyridoxine-Dependent Epilepsy	Lactic acidosis	ORPHA:3006
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600
Childhood-Onset Spasticity With Hyperglycinemia	Increased serum lactate, Nonketotic hyperglycinemia	ORPHA:401866
Acquired Von Willebrand Syndrome	Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Hematuria, Intracranial hemorrhage,...	ORPHA:99147
Combined Oxidative Phosphorylation Defect Type 27	Increased serum lactate	ORPHA:477774
Liver Disease, Severe Congenital	Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti...	OMIM:619991
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria,...	ORPHA:900
Central Hypoventilation Syndrome, Congenital, 3	Episodic hypertension	OMIM:619483
Combined Oxidative Phosphorylation Deficiency 12	Lactic acidosis, Increased serum lactate, Elevated circulating alpha-fetoprotein concentration	OMIM:614924
Charcot-Marie-Tooth Disease, Type 4K	Increased serum lactate	OMIM:616684
Oncogenic Osteomalacia	Renal phosphate wasting, Hyperphosphaturia, Hypocalcemia, Hypophosphatemia	ORPHA:352540
Enamel-Renal Syndrome	Increased circulating osteocalcin level, Renal insufficiency, Hypophosphaturia, Impaired renal co...	ORPHA:1031
Leber Optic Atrophy And Dystonia	Increased serum lactate	OMIM:500001
Mitochondrial Complex I Deficiency, Nuclear Type 1	3-hydroxydicarboxylic aciduria, Elevated lactate:pyruvate ratio, Cyanosis, Hypospadias, Lacticaci...	OMIM:252010
Lipodystrophy, Familial Partial, Type 7	Type I diabetes mellitus, Hypercholesterolemia, Hypertriglyceridemia, Polyuria	OMIM:606721
Multiple Mitochondrial Dysfunctions Syndrome 6	Increased serum lactate	OMIM:617954
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Increased serum lactate, Cardiomyopathy, Elevated urine acetoacetic acid level, 3-Methylglutaconi...	OMIM:620089
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Hyponatremia, Portal hypertension, Hypertension, Increased serum bil...	ORPHA:731
Combined Oxidative Phosphorylation Deficiency 13	Increased serum lactate	OMIM:614932
Pseudohypoparathyroidism Type 1A	Calcinosis, Prolonged QT interval, Hypertension, Hyperphosphatemia, Hypocalcemia, Low urinary cyc...	ORPHA:79443
Osteopetrosis With Renal Tubular Acidosis	Elevated circulating creatine kinase concentration, Proximal renal tubular acidosis, Nephrolithia...	ORPHA:2785
Wagro Syndrome	Hypertension, Nephroblastoma, Proteinuria	OMIM:612469
Combined Oxidative Phosphorylation Deficiency 54	Elevated lactate:pyruvate ratio, Tachycardia, Increased serum lactate	OMIM:619737
Arteriosclerosis, Severe Juvenile	Hypertension, Chronic kidney disease, Myocardial infarction	OMIM:208060
Webb-Dattani Syndrome	Hypernatremia	OMIM:615926
Autosomal Dominant Dopa-Responsive Dystonia	Hypertension, Transient hyperphenylalaninemia	ORPHA:98808
Livedoid Vasculopathy	Telangiectasia of the skin, Hyperhomocystinemia, Hypertension, Ischemic stroke, Abnormal circulat...	ORPHA:542643
Cockayne Syndrome Type 1	Hypertension, Renal insufficiency, Proteinuria, Increased blood urea nitrogen	ORPHA:90321
Acute Monoblastic/Monocytic Leukemia	Oliguria, Central hypothyroidism	ORPHA:514
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Hypertension	OMIM:610489
Polycythemia Vera	Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,...	ORPHA:729
Diffuse Cutaneous Systemic Sclerosis	Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Oliguria, Pulmonary ar...	ORPHA:220393
Multiple Endocrine Neoplasia Type 2	Elevated urinary catecholamine level, Hypercalcemia, Elevated urinary norepinephrine level, Nephr...	ORPHA:653
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Elevated circulating creatine kinase concentration, Increased serum lactate, Left bundle branch b...	OMIM:610131
Spondyloenchondrodysplasia	Proteinuria, Raynaud phenomenon, Vasculitis, Chronic kidney disease, Hematuria, Hypertension	ORPHA:1855
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Congestive heart failure, Papillary renal cell carcinoma, Intracranial hemo...	ORPHA:363618
Pseudo-Torch Syndrome 2	Lactic acidosis, Bradycardia, Abnormal renal corticomedullary differentiation, Cerebral hemorrhage	OMIM:617397
Zttk Syndrome	Polyuria, Unilateral renal agenesis, Horseshoe kidney	OMIM:617140
Enteric Anendocrinosis	Hyperchloremic metabolic acidosis, Portal hypertension	ORPHA:83620
Low Phospholipid-Associated Cholelithiasis	Hypercholesterolemia, Hypertension	ORPHA:69663
Pierson Syndrome	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Retinal hemorrhage, Nep...	OMIM:609049
Leigh Syndrome	Lactic acidosis, Increased serum lactate	OMIM:256000
Dilated Cardiomyopathy With Ataxia	Prolonged QT interval, Hypoplasia of penis, Increased serum lactate, Dilated cardiomyopathy, Peri...	ORPHA:66634
Isolated Complex I Deficiency	Increased serum pyruvate, Lactic acidosis, Hypertrophic cardiomyopathy, Proximal tubulopathy	ORPHA:2609
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Lactic acidosis, Cardiomyopathy, Increased serum lactate	OMIM:617710
Microscopic Polyangiitis	Hematuria, Glomerulopathy, Renal insufficiency, Oliguria	ORPHA:727
Pituitary Adenoma 1, Multiple Types	Hypertension, Cardiomyopathy	OMIM:102200
Pheochromocytoma/Paraganglioma Syndrome 4	Tachycardia, Elevated urinary catecholamine level, Renal cell carcinoma, Palpitations, Hypertensi...	OMIM:115310
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Increased serum pyruvate, Renal insufficiency, Increased serum lactate, Mild proteinuria, Hyperal...	OMIM:619147
Perry Syndrome	Hypotension	ORPHA:178509
Dengue Fever	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Hypotension, Hypoproteinemia	ORPHA:99828
Chronic Thromboembolic Pulmonary Hypertension	Cardiac shunt, Elevated circulating C-reactive protein concentration, Pulmonary embolism, Right v...	ORPHA:70591
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Nephrocalcinosis, Cardiomyopathy, Aminoaciduria, Lactic acidosis	OMIM:616084
Harel-Yoon Syndrome	Increased serum lactate, Hypertrophic cardiomyopathy	OMIM:617183
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Methylmalonic acidemia, Hypospadias, Increased serum lactate, Methylmalonic aciduria, Lactic acid...	ORPHA:17
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Hypertension, Renal hypoplasia, Absence of renal corticomedullary differentiation	OMIM:619758
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Increased serum lactate, Hypertrophic cardiomyopathy, Micropenis, Hypocholesterolemia	OMIM:618810
Paroxysmal Hemicrania	Hypertension	ORPHA:157835
Pheochromocytoma/Paraganglioma Syndrome 3	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:605373
Alagille Syndrome	Telangiectasia of the skin, Renal hypoplasia/aplasia, Abnormality of the ureter, Nephrotic syndro...	ORPHA:52
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Increased serum lactate, Hypertrophic cardiomyopathy, 3-Methylglutaconic aciduria	ORPHA:496790
Monosomy 18P	Hypertension	ORPHA:1598
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Hypertension, Pulmonary arterial hypertension	OMIM:613320
Microcephaly, Amish Type	Lactic acidosis	OMIM:607196
Gaucher Disease, Type I	Epistaxis, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, Aortic valve sten...	OMIM:230800
Melas	Wolff-Parkinson-White syndrome, Proteinuria, Cardiac conduction abnormality, Increased serum lact...	ORPHA:550
Extracranial Carotid Artery Aneurysm	Subarachnoid hemorrhage, Vasculitis, Hypertension, Cerebral ischemia, Arteritis	ORPHA:494424
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Cyanosis, Junct...	ORPHA:137675
Primary Progressive Freezing Gait	Hypertension, Urinary incontinence	ORPHA:75567
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R...	ORPHA:758
Hyperglycinemia, Lactic Acidosis, And Seizures	Lactic acidosis, Hypertrophic cardiomyopathy, Increased serum lactate	OMIM:614462
Infant Acute Respiratory Distress Syndrome	Tachycardia, Bradycardia, Cardiac arrest, Hypotension	ORPHA:70587
Joubert Syndrome 14	Intracranial hemorrhage, Hypertension, Renal cyst	OMIM:614424
Acute Transverse Myelitis	Orthostatic hypotension, Decreased circulating copper concentration, Urinary incontinence, Subara...	ORPHA:139417
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ...	OMIM:194080
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula...	ORPHA:99827
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Hypertension	OMIM:617763
Pediatric-Onset Graves Disease	Atrial fibrillation, Congestive heart failure, Hypertension, Palpitations, Sinus tachycardia	ORPHA:525731
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Hypertension, Dilated cardiomyopathy, Cerebral hemorrhage	OMIM:300845
Pontocerebellar Hypoplasia, Type 6	Increased serum lactate	OMIM:611523
Pyruvate Dehydrogenase E2 Deficiency	Lactic acidosis	OMIM:245348
Isolated Ectopia Lentis	Hypertension	ORPHA:1885
Biotinidase Deficiency	Organic aciduria, Hyperammonemia, Metabolic ketoacidosis	OMIM:253260
Congenital Short Bowel Syndrome	Metabolic acidosis	OMIM:615237
Von Hippel-Lindau Disease	Elevated urinary catecholamine level, Myocardial infarction, Myocarditis, Abnormal left ventricul...	ORPHA:892
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Lactic acidosis	ORPHA:1170
Werner Syndrome	Renal neoplasm, Telangiectasia of the skin, Myocardial infarction, Congestive heart failure, Hype...	ORPHA:902
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Increased serum lactate, Cardiomyopathy, Arrhythmia, Bradycardia	OMIM:609286
Stiff-Person Syndrome	Hypertension, Tachycardia	OMIM:184850
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Ketonuria, Hypospadias, Increased serum lactate, Hyperammonemia, Lactic acidosis, Hypertension, M...	OMIM:220111
Meningococcal Meningitis	Hypotension, Renal insufficiency, Shock, Elevated circulating C-reactive protein concentration	ORPHA:33475
Nipah Virus Disease	Hypotension	ORPHA:99825
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Hypertension	OMIM:151660
Infantile Liver Failure Syndrome 1	Lactic acidosis	OMIM:615438
Lassa Fever	Oliguria	ORPHA:99824
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Increased serum lactate	OMIM:619026
Cutis Marmorata Telangiectatica Congenita	Hypertension, Telangiectasia	OMIM:219250
Pontocerebellar Hypoplasia, Type 9	Increased serum lactate	OMIM:615809
3-Methylglutaconic Aciduria Type 7	Renal insufficiency, Increased serum lactate, Renal cyst, Nephrocalcinosis, Cardiomyopathy, 3-Met...	ORPHA:445038
Combined Oxidative Phosphorylation Deficiency 15	Wolff-Parkinson-White syndrome, Hypertension, Increased serum lactate, Shortened PR interval	OMIM:614947
Mitochondrial Dna Depletion Syndrome 19	Increased serum lactate, Hypospadias	OMIM:618972
Scrub Typhus	Myocarditis, Renal insufficiency, Hypotension	ORPHA:83317
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Increased serum lactate	OMIM:619060
Fragile X-Associated Tremor/Ataxia Syndrome	Pollakisuria, Urinary bladder sphincter dysfunction, Hypertension, Hypotension	ORPHA:93256
Familial Osteodysplasia, Anderson Type	Hypertension, Hyperuricemia	ORPHA:2769
Pheochromocytoma/Paraganglioma Syndrome 1	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:168000
Aortic Arch Interruption	Aortic regurgitation, Shock, Tricuspid regurgitation, Cyanosis, Blood pressure substantially high...	ORPHA:2299
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Renal artery aneurysm, Portal hypertension, Elevated circulating C-reactive protein concentration...	OMIM:615688
Hurler Syndrome	Cardiomyopathy, Mucopolysacchariduria, Hypertension, Angina pectoris	ORPHA:93473
Systemic Lupus Erythematosus	Proteinuria, Lupus nephritis, Pyuria, Raynaud phenomenon, Hematuria, Hypertension	ORPHA:536
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short...	OMIM:261740
Lissencephaly 7 With Cerebellar Hypoplasia	Increased serum lactate	OMIM:616342
Alkaptonuria	Hypertension, Aminoaciduria, Nephrolithiasis, Myocardial infarction	ORPHA:56
Cutaneous Mastocytoma	Telangiectasia of the skin, Hypotension, Telangiectasia macularis eruptiva perstans	ORPHA:79455
Optic Atrophy 11	Increased serum lactate, Mildly elevated creatine kinase	OMIM:617302
Pigmented Nodular Adrenocortical Disease, Primary, 4	Hypertension	OMIM:615830
Lysinuric Protein Intolerance	Hypolysinemia, Increased serum lactate, Increased circulating ferritin concentration, Stage 5 chr...	OMIM:222700
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hematochezia, Renal tubular acidosis, Metabolic acidosis	OMIM:619575
Neuroendocrine Tumor Of The Colon	Tricuspid regurgitation, Right ventricular failure, Melena, Palpitations, Hypotension, Facial tel...	ORPHA:100080
Combined Oxidative Phosphorylation Defect Type 13	Increased serum lactate	ORPHA:319514
Andersen-Tawil Syndrome	Renal tubular dysfunction, Hyperaldosteronism, Renal hypoplasia	ORPHA:37553
Aicardi-Goutieres Syndrome 7	Hematemesis, Increased circulating ferritin concentration, Vasculitis, Hematochezia, Nephrotic sy...	OMIM:615846
Combined Oxidative Phosphorylation Deficiency 27	Increased serum lactate, Hyperammonemia	OMIM:616672
Hellp Syndrome	Proteinuria, Cerebral hemorrhage, Hemoglobinuria, Hypotension, Acute kidney injury, Internal hemo...	ORPHA:244242
Mitochondrial Complex I Deficiency, Nuclear Type 9	Lactic acidosis	OMIM:618232
Homozygous Familial Hypercholesterolemia	Angina pectoris, Myocardial infarction, Sudden cardiac death, Hyperlipidemia, Renal steatosis, He...	ORPHA:391665
Vascular Ehlers-Danlos Syndrome	Hypospadias, Cystocele, Renovascular hypertension, Bladder diverticulum, Hypokalemia	ORPHA:286
Erythrocytosis, Familial, 2	Hypotension, Pulmonary arterial hypertension, Cerebral hemorrhage	OMIM:263400
Tubulointerstitial Nephritis And Uveitis Syndrome	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:91500
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Increased serum lactate, Spastic/hyperactive bladder	ORPHA:137898
Acth-Independent Macronodular Adrenal Hyperplasia	Hypertension	OMIM:219080
Pigmented Nodular Adrenocortical Disease, Primary, 2	Hypertension	OMIM:610475
Neuroendocrine Tumor Of The Rectum	Tricuspid regurgitation, Right ventricular failure, Hematochezia, Melena, Palpitations, Hypotensi...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Tricuspid regurgitation, Right ventricular failure, Hematochezia, Melena, Palpitations, Hypotensi...	ORPHA:100082
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Lactic acidosis, Elevated circulating thymidine concentration, Elevated circulating deoxyuridine ...	OMIM:603041
Hardikar Syndrome	Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Hydroureter, ...	OMIM:301068
Inhalational Anthrax	Internal hemorrhage, Hypotension	ORPHA:247257
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Increased serum lactate, Hyperalaninemia, Micropenis	OMIM:619847
Scalp-Ear-Nipple Syndrome	Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit...	ORPHA:2036
Arterial Tortuosity Syndrome	Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Myoc...	ORPHA:3342
Developmental And Epileptic Encephalopathy 51	Elevated lactate:pyruvate ratio, Increased serum lactate	OMIM:617339
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Hypertension, Atrioventricular block	ORPHA:371428
Biotinidase Deficiency	Organic aciduria, Hyperammonemia, Metabolic ketoacidosis	ORPHA:79241
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Hypoalbuminemia, Tricuspid regurgitation, Portal hypertension, Ele...	OMIM:619534
Congenital Enterovirus Infection	Myocarditis, Hyperammonemia, Cardiomyopathy, Hypoalbuminemia, Hypotension	ORPHA:292
Mitochondrial Complex I Deficiency, Nuclear Type 28	Increased serum lactate, Hyperalaninemia	OMIM:618249
Rett Syndrome	Increased serum pyruvate, Increased serum lactate, Hyperammonemia	ORPHA:778
Poliomyelitis	Hypertension, Hypovolemic shock, Hypotension	ORPHA:2912
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hyperechogenicity	OMIM:619351
Proximal Spinal Muscular Atrophy	Metabolic acidosis, Bradycardia	ORPHA:70
Ileal Neuroendocrine Tumor	Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Palpitations, Hypotension, Pul...	ORPHA:100078
Cockayne Syndrome	Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen...	ORPHA:191
Arterial Tortuosity Syndrome	Aortic regurgitation, Hypertension, Ischemic stroke, Aortic valve stenosis, Telangiectases of the...	OMIM:208050
Staphylococcal Necrotizing Pneumonia	Shock, Elevated circulating C-reactive protein concentration, Hypotension	ORPHA:36238
Carey-Fineman-Ziter Syndrome	Hydronephrosis, Glandular hypospadias, Hypertensive crisis	ORPHA:1358
Au-Kline Syndrome	Chronic kidney disease, Dilatation of the renal pelvis, Hypertension, Vesicoureteral reflux, Hydr...	OMIM:616580
Bronchial Neuroendocrine Tumor	Tricuspid regurgitation, Right ventricular failure, Palpitations, Facial telangiectasia, Hypotens...	ORPHA:97287
Chromosome 5Q12 Deletion Syndrome	Hypotension	OMIM:615668
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hypertension	ORPHA:449291
Beare-Stevenson Cutis Gyrata Syndrome	Hypertension, Hypospadias	OMIM:123790
Pyruvate Dehydrogenase E1-Beta Deficiency	Lactic acidosis	ORPHA:255138
Wars2-Related Combined Oxidative Phosphorylation Defect	Lactic acidosis, Cardiomyopathy, Increased serum lactate	ORPHA:572798
Smith-Lemli-Opitz Syndrome	Ureteropelvic junction obstruction, Duplicated collecting system, Hypospadias, Renal agenesis, Un...	OMIM:270400
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Transient ischemic attack, Subarachnoid hemorrhage, Hypovolemia, Abnormal l...	ORPHA:91387
Mitochondrial Dna-Associated Leigh Syndrome	Multiple glomerular cysts, Cardiac conduction abnormality, Increased serum lactate, Low plasma ci...	ORPHA:255210
Generalized Arterial Calcification Of Infancy	Hyperphosphaturia, Cyanosis, Transient ischemic attack, Left ventricular systolic dysfunction, Re...	ORPHA:51608
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Lactic acidosis, Increased serum lactate	OMIM:617186
Williams-Beuren Syndrome	Recurrent urinary tract infections, Renal insufficiency, Hypercalcemia, Portal hypertension, Abno...	OMIM:194050
Oculopharyngodistal Myopathy 1	Paroxysmal atrial fibrillation, Elevated circulating creatine kinase concentration, Hypercapnia, ...	OMIM:164310
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia	OMIM:614653
Carney Triad	Gastrointestinal hemorrhage, Hypertension, Tachycardia, Arrhythmia	ORPHA:139411
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hypertension	ORPHA:1555
Williams Syndrome	Hypoplasia of penis, Elevated circulating creatine kinase concentration, Myocardial infarction, A...	ORPHA:904
Tuberous Sclerosis Complex	Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di...	ORPHA:805
Aneurysm Of Sinus Of Valsalva	Oliguria	ORPHA:1054
Multiple Endocrine Neoplasia Type 1	Hypercalcemia, Hematemesis, Shortened QT interval, Nephrolithiasis, Hypercalciuria, Melena, Hyper...	ORPHA:652
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Increased serum lactate	ORPHA:438114
Scalp-Ear-Nipple Syndrome	Renal insufficiency, Unilateral renal agenesis, Congestive heart failure, Renal hypoplasia, Pyelo...	OMIM:181270
Nestor-Guillermo Progeria Syndrome	Right bundle branch block, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, S...	OMIM:614008
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Fingerpad telangiectas...	OMIM:600376
Orofaciodigital Syndrome Type 1	Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hypertension, Hydronephrosis	ORPHA:2750
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Increased serum lactate	OMIM:612949
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Stage 5 chronic kidney disease, Renal cyst, Hypertension, Nephronophthisis,...	OMIM:266920
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hypertension	OMIM:616914
Immunodeficiency 82 With Systemic Inflammation	Hypernatremia, Hypoalbuminemia, Vasculitis in the skin, Elevated circulating C-reactive protein c...	OMIM:619381
3-Methylglutaconic Aciduria, Type Viib	Increased serum lactate, Congestive heart failure, 3-Methylglutaconic aciduria	OMIM:616271
Von Hippel-Lindau Syndrome	Hypertension, Renal cell carcinoma, Multiple renal cysts	OMIM:193300
Cranioectodermal Dysplasia 2	Hypertension, Renal insufficiency, Hyperbilirubinemia, Renal cyst	OMIM:613610
Hartsfield Syndrome	Hypernatremia	OMIM:615465
Vici Syndrome	Elevated circulating creatine kinase concentration, Acidosis, Congestive heart failure, Dilated c...	OMIM:242840
Orofaciodigital Syndrome I	Hypertension, Proteinuria, Polycystic kidney dysplasia	OMIM:311200
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia, Hypercapnia	OMIM:601887
Post-Traumatic Pituitary Deficiency	Hypotension	ORPHA:95619
Cockayne Syndrome B	Renal insufficiency, Proteinuria, Hypertension, Arrhythmia, Micropenis	OMIM:133540
Bardet-Biedl Syndrome 1	Hypertension, Micropenis, Abnormality of the kidney	OMIM:209900
Cockayne Syndrome A	Renal insufficiency, Proteinuria, Hypertension, Arrhythmia, Micropenis	OMIM:216400
Pde4D Haploinsufficiency Syndrome	Hypospadias, Hypotension	ORPHA:439822
Congenital Disorder Of Glycosylation, Type Iim	Ureteropelvic junction obstruction, Hypertension, Vesicovaginal fistula, Neonatal hyperbilirubinemia	OMIM:300896
Alexander Disease	Hypotension, Hypertension, Sudden cardiac death	ORPHA:58
Neuroendocrine Tumor Of Stomach	Tricuspid regurgitation, Right ventricular failure, Hematemesis, Melena, Palpitations, Hypotensio...	ORPHA:100075
Myhre Syndrome	Abnormal penis morphology, Epispadias, Hypospadias, Hypertension	ORPHA:2588
Combined Oxidative Phosphorylation Deficiency 7	Increased serum lactate	OMIM:613559
Classic Homocystinuria	Gastrointestinal hemorrhage, Pulmonary embolism, Intracranial hemorrhage, Hypertension, Cerebral ...	ORPHA:394
Mucopolysaccharidosis Type 2, Severe Form	Heparan sulfate excretion in urine, Heart murmur, Dermatan sulfate excretion in urine, Cardiomyop...	ORPHA:217085
Apert Syndrome	Hypertension	ORPHA:87
Mucopolysaccharidosis Type 2, Attenuated Form	Heparan sulfate excretion in urine, Heart murmur, Dermatan sulfate excretion in urine, Cardiomyop...	ORPHA:217093
Secondary Intestinal Lymphangiectasia	Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr...	ORPHA:90363
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Hypospadias, Unilateral renal agenesis, Dilatation of the renal pelvis, Hypertension, Abnormality...	ORPHA:95699
Autosomal Dominant Progressive External Ophthalmoplegia	Atrial fibrillation, Elevated circulating creatine kinase concentration, Increased serum lactate,...	ORPHA:254892
Aorta Coarctation	Congestive heart failure, Hypertension, Pulmonary arterial hypertension	ORPHA:1457
Combined Oxidative Phosphorylation Defect Type 39	Increased serum lactate, Bradycardia	ORPHA:565624
Spastic Tetraplegia And Axial Hypotonia, Progressive	Increased serum lactate	OMIM:618598
Hallermann-Streiff Syndrome	Hypertension, Pulmonary arterial hypertension, Telangiectasia	OMIM:234100
Hunter-Macdonald Syndrome	Aortic regurgitation, Hypertension, Mitral regurgitation, Hypospadias	OMIM:611962
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Lactic acidosis, Metabolic acidosis	OMIM:256810
Multisystemic Smooth Muscle Dysfunction Syndrome	Hypertension, Pulmonary arterial hypertension	OMIM:613834
Aggressive Systemic Mastocytosis	Hypotension, Gastrointestinal hemorrhage, Portal hypertension	ORPHA:98850
Familial Bicuspid Aortic Valve	Aortic regurgitation, Hypertension, Aortic valve stenosis, Heart murmur	ORPHA:402075
Atypical Werner Syndrome	Renal neoplasm, Hypertriglyceridemia, Telangiectasia of the skin, Congestive heart failure, Hyper...	ORPHA:79474
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hypotension	ORPHA:79456
Combined Oxidative Phosphorylation Deficiency 39	Increased serum lactate, Sinus bradycardia	OMIM:618397
Marshall-Smith Syndrome	Pulmonary arterial hypertension, Hypertension, Premature ventricular contraction	OMIM:602535
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Increased serum lactate, Dilated cardiomyopathy	ORPHA:70595
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Increased serum lactate, Tachycardia, Dilated cardiomyopathy	OMIM:618321
Congenital Disorder Of Deglycosylation 1	Hyperalaninemia, Elevated circulating alpha-fetoprotein concentration, Heparan sulfate excretion ...	OMIM:615273
Cushing Disease	Increased urinary cortisol level, Hypertension, Capillary fragility, Myocardial infarction	ORPHA:96253
Prader-Willi Syndrome	Hypertension	ORPHA:739
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Hypospadias, Renal hypoplasia, Multiple renal cysts, Hypocalcemia, P...	ORPHA:567
Blau Syndrome	Clear cell renal cell carcinoma, Pericarditis, Stage 5 chronic kidney disease, Large vessel vascu...	ORPHA:90340
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Increased serum lactate	OMIM:620275
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Increased serum lactate, Mitral regurgitation, Dilated cardiomyopathy, Mildly elevated creatine k...	OMIM:607459
Xq21 Microdeletion Syndrome	Hypertension, Renal artery stenosis	ORPHA:1435
Acromegaly	Dysuria, Wide penis, Long penis, Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy	ORPHA:963
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Renal hypoplasia, Renal cyst, Hypertension, Hyperbilirubinemia, Polycystic kidney dysplasia, Micr...	OMIM:210710
Acute Radiation Syndrome	Hypotension, Telangiectasia	ORPHA:454831
Leptospirosis	Pericarditis, First degree atrioventricular block, Cellular urinary casts, Retinal hemorrhage, Su...	ORPHA:509
Hutchinson-Gilford Progeria Syndrome	Aortic regurgitation, Cyanosis, Mitral stenosis, Angina pectoris, Myocardial infarction, Transien...	ORPHA:740
Yunis-Varon Syndrome	Hypospadias, Renovascular hypertension, Hypertension, Cardiomyopathy, Renal artery stenosis, Pulm...	ORPHA:3472
Somatomammotropinoma	Hypertension, Mitral regurgitation, Dysuria, Hypertrophic cardiomyopathy	ORPHA:314769
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Cyanosis, Congestive heart failur...	ORPHA:980
Turner Syndrome Due To Structural X Chromosome Anomalies	Prolonged QT interval, High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic kidney,...	ORPHA:99413
Mosaic Monosomy X	Prolonged QT interval, High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic kidney,...	ORPHA:99228
Monosomy X	Prolonged QT interval, High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic kidney,...	ORPHA:99226
Turner Syndrome	Prolonged QT interval, High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic kidney,...	ORPHA:881
Hennekam-Beemer Syndrome	Arrhythmia, Telangiectasia of the skin, Hypotension	ORPHA:2135
Combined Oxidative Phosphorylation Deficiency 29	Increased serum lactate	OMIM:616811
Blau Syndrome	Hypertension, Pericarditis	OMIM:186580
3-Methylglutaconic Aciduria, Type Viii	Increased serum lactate, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Bradycardia	OMIM:617248
Neurofibromatosis, Type I	Hypertension, Renal artery stenosis	OMIM:162200
Combined Oxidative Phosphorylation Defect Type 29	Increased serum lactate	ORPHA:478029
Myhre Syndrome	Hypertension, Aortic valve stenosis	OMIM:139210
Mucopolysaccharidosis Type 2	Cardiomyopathy, Arrhythmia, Hypertension	ORPHA:580
Aromatic L-Amino Acid Decarboxylase Deficiency	Hypotension	OMIM:608643
Systemic Mastocytosis With Associated Hematologic Neoplasm	Tachycardia, Syncope, Hypotension	ORPHA:98849
17Q11 Microdeletion Syndrome	Telangiectasia of the skin, Renovascular hypertension, Hypertension, Renal artery stenosis, Pulmo...	ORPHA:97685
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Increased serum lactate, 3-Methylglutaconic aciduria, Ethylmalonic aciduria, Aciduria	OMIM:203700
Central Hypoventilation Syndrome, Congenital, 1	Hypoxemia, Decreased heart rate variability, Hypercapnia	OMIM:209880
Neurofibromatosis Type 1	Hypertension, Abnormality of the upper urinary tract	ORPHA:636
Adams-Oliver Syndrome 1	Hypertension, Aortic valve stenosis, Pulmonary arterial hypertension, Pulmonic stenosis	OMIM:100300
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Increased serum lactate	OMIM:157640
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Increased serum lactate, Hypertriglyceridemia	OMIM:619418
Non-Functioning Pituitary Adenoma	Hypotension	ORPHA:91349
Ventilator-Induced Diaphragmatic Dysfunction	Hypercapnia	ORPHA:505395
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Multicystic kidney dysplasia, Renal agenesis, Hypospadias, Unilateral renal agenesis, Hypertensio...	OMIM:308205
Neuroendocrine Neoplasm Of Appendix	Palpitations, Heart murmur, Tricuspid stenosis, Hypotension	ORPHA:100079
Cushing Syndrome Due To Ectopic Acth Secretion	Increased urinary cortisol level, Hypertension, Capillary fragility, Myocardial infarction	ORPHA:99889
Prolactinoma	Hypotension	ORPHA:2965
Hereditary Angioedema Type 1	Hypotension	ORPHA:100050
Alström Syndrome	Recurrent urinary tract infections, Recurrent cystitis, Detrusor sphincter dyssynergia, Dysuria, ...	ORPHA:64
Keutel Syndrome	Hypertension, Pulmonic stenosis	OMIM:245150
Congenital Myopathy 13	Hypoxemia, Hypercapnia	OMIM:255995
Cerebrotendinous Xanthomatosis	Increased serum lactate	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	Hematemesis, Tachycardia, Arrhythmia, Hypotension	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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us