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