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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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 Similarity of
phenotypes
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