banner
Genes Phenotypes Help, News, Blog

Gene: Hsd11b2 MGI:104720

Log in to follow
Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
hydroxysteroid 11-beta dehydrogenase 2
Synonyms:
11(beta)-HSD2,  11HSD2

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Hsd11b2 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 Hsd11b2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Apparent Mineralocorticoid Excess
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypertension, Hypokal... ORPHA:320
Apparent Mineralocorticoid Excess
Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l... OMIM:218030

The table below shows human diseases predicted to be associated to Hsd11b2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... OMIM:300971
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Hypertension, Polycystic kidney dysplasia, Re... OMIM:617610
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal... OMIM:613090
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Hypertension, Multiple renal ... OMIM:620056
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... OMIM:602522
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Elevated left ventricular end-diastolic diameter, Polyuria, Dilated cardiomyopathy,... OMIM:620152
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... OMIM:601894
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Polyuria, Hypercalcemia,... OMIM:601678
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... OMIM:137950
Hypercalcemia, Infantile, 2
Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate... OMIM:616963
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Myocardial infarction, Chronic kidney disease, Stage 5 chronic ... ORPHA:54370
Bartter Syndrome Type 4
Hyponatremia, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abili... ORPHA:89938
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Situs inversus totalis, Hyperkalemia, Stage 5 ... OMIM:602088
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... OMIM:161900
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Malabsorption, Chronic kidney disease, Abno... ORPHA:85445
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hypertension, Hypokalemia, Hyperaldosteronism, Pol... OMIM:613677
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Hypokalemia, Hyp... OMIM:618314
Nephronophthisis-Like Nephropathy 2
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... OMIM:619468
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Renal salt wasting, Increased urina... OMIM:241200
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Renal insufficiency, Proteinuria, Malabsorption, Congestive heart failure, Hypert... ORPHA:225
Hypercalcemia, Infantile, 1
Polyuria, Hypercalcemia, Decreased circulating parathyroid hormone level, Nephrolithiasis, Hyperc... OMIM:143880
Type 1 Diabetes Mellitus
Diabetes mellitus, Polyuria, Decreased level of 1,5 anhydroglucitol in serum, Polydipsia, Polyphagia OMIM:222100
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria, Hypertension ORPHA:2820
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... OMIM:603965
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Hypertension,... OMIM:256100
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Hypertension, Microscopic hematuria ORPHA:2613
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... OMIM:613944
Bartter Syndrome, Type 3
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... OMIM:607364
Nephronophthisis 16
Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Aortic valve stenosi... OMIM:615382
Liddle Syndrome
Renal insufficiency, Hypertension, Hypokalemia, Cerebral ischemia, Nephropathy, Arrhythmia ORPHA:526
Iga Nephropathy, Susceptibility To, 3
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, Hypertension,... OMIM:616818
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Salt craving, Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Hyperaldosteronism, Hypocalciu... OMIM:612780
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... OMIM:613496
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Elevated stool chloride content, Hypochloremia, Hypokalemia, Hyperactive renin-angi... OMIM:214700
Senior-Loken Syndrome 4
Polydipsia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis OMIM:606996
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Nephrotic syndrome, Hypert... ORPHA:84090
Renal Glucosuria
Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia OMIM:233100
Preeclampsia
Helicobacter pylori infection, Proteinuria, Abnormality of the kidney, Chronic kidney disease, El... ORPHA:275555
Focal Segmental Glomerulosclerosis 5
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypertension, Mi... OMIM:613237
Apparent Mineralocorticoid Excess
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypertension, Hypokal... ORPHA:320
Hepatorenocardiac Degenerative Fibrosis
Portal hypertension, Renal cyst, Hepatosplenomegaly, Hypertrophic cardiomyopathy, Tubular luminal... OMIM:619902
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Proteinuria, Hematuria, Focal segmental glomerulosclerosis, Hypertension OMIM:607832
Preeclampsia/Eclampsia 1
Hypertension, Proteinuria OMIM:189800
Focal Segmental Glomerulosclerosis 1
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:603278
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... OMIM:248250
Coproporphyria, Hereditary
Hepatomegaly, Tachycardia, Increased fecal coproporphyrin 3, Increased fecal coproporphyrin III:c... OMIM:121300
Cystinosis
Renal insufficiency, Proteinuria, Portal hypertension, Malabsorption, Nephrogenic diabetes insipi... ORPHA:213
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal... ORPHA:251274
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney diseas... OMIM:613845
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased circulating cortisol level, Renal salt wasting, Premature adrenarche, Hyponatremia, Hyp... ORPHA:90794
Trimethylaminuria
Splenomegaly, Hypertension, Tachycardia, Trimethylaminuria OMIM:602079
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Hyperphosphaturia, Polyuria, Hypercalcemia, Splenomegaly, Primary hyper... OMIM:239200
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... ORPHA:730
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... OMIM:161950
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Gitelman Syndrome
Prolonged QT interval, Salt craving, Polyuria, Renal magnesium wasting, Ventricular tachycardia, ... OMIM:263800
Lessel-Kubisch Syndrome
Hypertension, Renal insufficiency, Hypogonadism, Renal hypoplasia OMIM:618681
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Increased blood urea nitrog... ORPHA:251004
Amyloidosis, Familial Visceral
Hepatomegaly, Proteinuria, Splenomegaly, Hematuria, Nephrotic syndrome, Hypertension, Nephropathy OMIM:105200
Aapoaiv Amyloidosis
Left bundle branch block, Sinus bradycardia, Elevated circulating creatinine concentration, Cardi... ORPHA:439232
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... OMIM:263200
Hypocalcemia, Autosomal Dominant 1
Decreased circulating parathyroid hormone level, Hypercalciuria, Nephrolithiasis, Nephrocalcinosi... OMIM:601198
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Epistaxis, Abnormal circ... ORPHA:369929
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Elevated cir... OMIM:613095
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Diabetes mellitus, Hypertension, Myocardial infarction OMIM:608320
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... ORPHA:329918
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Hypertension OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Hypertension OMIM:614495
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Atrial fibrillatio... ORPHA:976
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Proteinuria, ... ORPHA:567548
Helix Syndrome
Renal insufficiency, Hyperparathyroidism, Polyuria, Hypermagnesemia, Nephrolithiasis, Xerostomia,... OMIM:617671
Dibasic Amino Aciduria I
Dibasicaminoaciduria, Malabsorption, Ornithinuria, Argininuria, Hyperlysinuria OMIM:222690
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... OMIM:266900
Corticosteroid-Binding Globulin Deficiency
Decreased circulating cortisol level, Decreased urinary potassium, Hypertension, Hypokalemia, Hyp... OMIM:611489
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polyuria, Nephrogenic diabetes insipidus, Megacystis, Polydipsia, Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polyuria, Megacystis, Polydipsia, Hypernatremia, Diabetes insipidus OMIM:304800
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Sudden cardiac death, Myocardial infarction, Increased LDL cholesterol conc... OMIM:610947
East Syndrome
Salt craving, Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Hyperaldosteron... ORPHA:199343
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Hypertension OMIM:614496
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Hypertension, Hypokalemia,... OMIM:615474
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Glycogen Storage Disease Ia
Hepatomegaly, Proteinuria, Hepatocellular carcinoma, Hyperlipidemia, Nephrolithiasis, Focal segme... OMIM:232200
Hyperprolinemia Type 1
Nephropathy, Hyperprolinemia, Proteinuria, Prolinuria ORPHA:419
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior, Hyperglycinuria, Hyperprolinemia, Prolinuria, Hydroxyprolinur... OMIM:239500
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul... OMIM:308990
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Hypertension, Aminoaciduria, Glyco... OMIM:618913
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary h... ORPHA:231580
Glycogen Storage Disease Ib
Hepatomegaly, Proteinuria, Hepatocellular carcinoma, Splenomegaly, Hyperlipidemia, Nephrolithiasi... OMIM:232220
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Hypertension, Pseudohypoaldosteronism, Hyperchloremia, Decreased circulating renin ... OMIM:614492
Iminoglycinuria
Hydroxyprolinemia, Hyperglycinuria, Hyperprolinemia, Hyperglycinemia, Prolinuria, Hydroxyprolinuria ORPHA:42062
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... OMIM:615703
Cystinosis, Nephropathic
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... OMIM:219800
Hyperaldosteronism, Familial, Type Ii
Hypertension, Hypokalemia, Hyperaldosteronism OMIM:605635
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Polyuria, Pericardial effusion, Elevated circulating thyroid-... OMIM:618183
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Ne... ORPHA:231625
Saccharopinuria
Citrullinuria, Elevated circulating sacchoropine concentration, Histidinuria, Saccharopinuria, Hy... OMIM:268700
Liddle Syndrome 1
Renal insufficiency, Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decrease... OMIM:177200
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Hepatomegaly, Enlarged kidney OMIM:615285
Bardet-Biedl Syndrome 17
Polydipsia, Polyuria, Dextrocardia, Situs inversus totalis, Stage 5 chronic kidney disease, Renal... OMIM:615994
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension... ORPHA:403
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ... ORPHA:564178
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Proteinuria, Abnormal mitral valve morphology, Nephrotic syndrome, Hypertension, Type I diabetes ... ORPHA:1192
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Nephrocal... OMIM:614473
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, High pala... OMIM:608836
Hyperprolinemia, Type Ii
Hydroxyprolinuria, Hyperprolinemia, Hyperglycinuria, Prolinuria OMIM:239510
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Anorexia, Hepatosplenomegaly, Nephrocalcinosis, Hypokalemia, Distal renal tubular ac... OMIM:611590
Senior-Loken Syndrome
Hypertension, Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis ORPHA:3156
Renal Tubular Acidosis, Distal, 1
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... OMIM:179800
Meckel Syndrome, Type 8
Pericardial effusion, Cleft palate, Polycystic kidney dysplasia, Hyperechogenic kidneys, Enlarged... OMIM:613885
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Intestinal perforation, Tubulointerstitial nephritis, Ga... ORPHA:85450
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Hypertension, Type II diabetes mellitus, Polyphagia ORPHA:71529
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hypertension, Cardiomyopathy, Hyperuricemia, Arrhythmia ORPHA:3222
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Esophageal atresia, Tracheoesophageal fistula, Urethral atresia, Transposition of t... OMIM:314390
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Splenomegaly, Renal hypoplasia, Dysphagia, Nephrocalcinosis, Hypertensi... OMIM:617913
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi... OMIM:606995
Renal Hypoplasia, Bilateral
Hyponatremia, Proteinuria, Chronic kidney disease, Hyperkalemia, Oliguria, Renal hypoplasia, Rena... ORPHA:97362
Senior-Boichis Syndrome
Polydipsia, Thickening of the tubular basement membrane, Portal hypertension, Aggressive behavior... ORPHA:84081
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Hypertension, Abnormal renal corticomedullary diff... OMIM:616733
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... OMIM:612925
Juvenile Nephropathic Cystinosis
Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem... ORPHA:411634
Tyrosinemia, Type I
Hypertyrosinemia, Gastrointestinal hemorrhage, Renal insufficiency, Hepatomegaly, Elevated circul... OMIM:276700
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Renal salt wasting, Hyperkalemia, Hyperactive renin-angiotensin system, Hyperaldost... OMIM:264350
Ochoa Syndrome
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... ORPHA:2704
Denys-Drash Syndrome
Proteinuria, Nephrotic syndrome, Hypertension, Nephropathy, Nephroblastoma ORPHA:220
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Nephrocalcinosis, Distal renal tubular acidosis, Hypokalemia, Hypercalciuria OMIM:602722
Oligomeganephronia
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Secundum atrial septal defect, Abnor... ORPHA:2260
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Elevated circulating creatine kinase concentration, Cardiomegaly, Cong... OMIM:604765
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
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c... ORPHA:404
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis... OMIM:610205
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hyperamylasemia, Impaired renal tubular reabsorption of bicarbonate, Bicarbonate-wasting renal tu... OMIM:604278
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Colonic diverticula, Renal insufficiency, Mitral valve prolapse, Hypertension, Mitral regurgitati... OMIM:173900
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Orthostatic hypotension, Increased circulating corticosterone level, Renal salt was... OMIM:610600
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... OMIM:104200
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:613550
Combined Oxidative Phosphorylation Deficiency 52
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Anorexi... OMIM:619386
Rhabdoid Tumor
Renal neoplasm, Hypercalcemia, Hematuria, Hypertension, Neoplasm of the liver, Internal hemorrhage ORPHA:69077
Arima Syndrome
Hepatomegaly, Proteinuria, Polyuria, Esophageal varix, Stage 5 chronic kidney disease, Hematuria,... OMIM:243910
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612924
Nephronophthisis 18
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri... OMIM:615862
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... OMIM:614723
Homozygous 11P15-P14 Deletion Syndrome
Renal tubular dysfunction, Hyperinsulinemia, Generalized aminoaciduria, Abnormal intestine morpho... OMIM:606528
Frasier Syndrome
Glomerulopathy, Renal insufficiency, Streak ovary, Proteinuria, Hypergonadotropic hypogonadism, I... ORPHA:347
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephri... ORPHA:94080
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Congestive heart failure, Splenomegaly, Nephrotic syndrome, Focal segm... OMIM:617303
Colchicine Poisoning
Hyponatremia, Renal insufficiency, Congestive heart failure, Myocarditis, Hypovolemia, Oliguria, ... ORPHA:31824
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Increased serum prostaglandin E2, Hypokalemia, Proximal tubulopathy, Increased circulating renin ... OMIM:241150
Cryoglobulinemia, Familial Mixed
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Hy... OMIM:123550
Cystic Hamartoma Of Lung And Kidney
Hypertension, Multicystic kidney dysplasia ORPHA:2111
Mercury Poisoning
Tachycardia, Anorexia, Hypertension, Hypokalemia, Hypotension, Acute kidney injury ORPHA:330021
Fanconi-Bickel Syndrome
Hepatomegaly, Hyperphosphaturia, Ketonuria, Proteinuria, Hypouricemia, Malabsorption, Hypercalciu... OMIM:227810
Cystinuria
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... OMIM:220100
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Truncus arteriosus, Situs inversus totalis, Stillbirth, Aortic valve stenosis, Pulm... OMIM:615415
Gracile Syndrome
Increased serum pyruvate, Increased circulating ferritin concentration, Aminoaciduria, Increased ... OMIM:603358
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature pubarche, Premature thelarche, Renal salt wasting... ORPHA:90795
Autosomal Recessive Polycystic Kidney Disease
Fat malabsorption, Protein-losing enteropathy, Hepatoblastoma, Hyponatremia, Portal hypertension,... ORPHA:731
Multiple Endocrine Neoplasia, Type Iia
Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Elevated urinary norepine... OMIM:171400
Galactosemia Iii
Hepatomegaly, Splenomegaly, Aminoaciduria, Galactosuria, Hypergalactosemia OMIM:230350
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Type I diabetes mellitus, Hepatomegaly, Proximal tubulopathy, Polyuria OMIM:560000
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Abnormality of the thyroid gland, Splenomegaly, Abnormal circulating calcium-phosph... ORPHA:417
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Malabsorption, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nep... ORPHA:47159
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, I... ORPHA:556037
Ectopic Aldosterone-Producing Tumor
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Renal cortical adenoma, Hyperte... ORPHA:231632
Hypomagnesemia 2, Renal
Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia OMIM:154020
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Myocardial infarction, Intestinal perforation, Rectal prolapse, Elevated ci... ORPHA:90038
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Renal insufficiency, Intestinal malrotation, Portal hypertension, Situs inversus to... OMIM:208540
Cholera
Hyponatremia, Tachycardia, Abnormality of renal excretion, Achlorhydria, Abnormal blood ion conce... ORPHA:173
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrocalcinosis, Inflammation of the large intestine, Hypothyroidism, Tubulointerstitial fibrosi... ORPHA:79259
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Malabsorption, Xerostomia, Hematochezia, Hamartomatous polyposis, Hypokalemia, Protein-... OMIM:175500
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Abnormality of the urinary system, Hyp... OMIM:103900
Dent Disease 2
Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Hypop... OMIM:300555
Multicentric Carpotarsal Osteolysis Syndrome
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Bilateral renal a... OMIM:166300
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypospadias, Renal salt wasting, Adrenogenital syndrome, Hypertension OMIM:201910
Potocki-Shaffer Syndrome
Nephroblastoma, Hypertension, Delayed puberty, Micropenis, Hypothyroidism ORPHA:52022
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, I... ORPHA:556030
Teratoma, Pineal
Polydipsia, Polyuria OMIM:273120
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Insulin-resistant... ORPHA:90301
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el... OMIM:261740
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Male hypogonadism, Micropenis, Decreased circulating renin ... ORPHA:90793
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2
Lacunar stroke, Hypertension, Transient ischemic attack OMIM:616779
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... OMIM:194080
Sneddon Syndrome
Intracranial hemorrhage, Nephropathy, Hypertension ORPHA:820
Gitelman Syndrome
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Tubulointerstitial nephriti... ORPHA:358
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Pseudo-Torch Syndrome 3
Proteinuria, Cerebral hemorrhage, Cardiomegaly, Increased circulating ferritin concentration, Hyp... OMIM:618886
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev... OMIM:171420
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:203780
Renal Tubular Acidosis Iii
Nephrocalcinosis, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis OMIM:267200
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Tachycardia, Tricuspid regurgitation, Proteinuria, Heparan sulfate excretion in urine, Congestive... ORPHA:505248
Hyperlysinuria With Hyperammonemia
Dibasicaminoaciduria, Malabsorption, Hyperammonemia, Hyperlysinuria, Hyperlysinemia OMIM:238750
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... ORPHA:93110
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Heme Oxygenase 1 Deficiency
Hepatomegaly, Proteinuria, Epistaxis, Elevated circulating C-reactive protein concentration, Diff... OMIM:614034
Genetic Recurrent Myoglobinuria
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka... ORPHA:99845
Hypouricemia, Renal, 1
Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos... OMIM:220150
5-Oxoprolinase Deficiency
Increased level of L-pyroglutamic acid in urine, Enterocolitis, Prolinuria, Calcium oxalate nephr... OMIM:260005
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomyopathy, Carnosinuria OMIM:309930
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... OMIM:613239
Polyarteritis Nodosa
Abnormality of the gastrointestinal tract, Pericarditis, Abnormality of the kidney, Elevated circ... ORPHA:767
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Hypotension, D... OMIM:203400
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Aganglionic megacolon, Ventricular septal defect, Hypertension, Agitation, Atrial se... OMIM:613870
Alport Syndrome
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... ORPHA:63
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Hypertension, Polycystic kidney dysplasia, D... OMIM:618061
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Hypertension, Paraganglioma OMIM:618464
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Insulin-resis... ORPHA:280356
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension OMIM:166990
Eosinophilic Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Recurrent intrapulmonary hemorrhage, Proteinuria, Transient ... ORPHA:183
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Cerebr... ORPHA:276621
Porphyria Variegata
Hyponatremia, Neurogenic bladder, Tachycardia, Abnormal circulating porphyrin concentration, Chro... ORPHA:79473
Leprechaunism
Hepatomegaly, Enlarged ovaries, Rectal prolapse, Long penis, Hyperinsulinemia, Hypercalciuria, Ce... ORPHA:508
H Syndrome
Hypertriglyceridemia, Diabetes mellitus, Abnormality of the kidney, Malabsorption, Abnormal cardi... ORPHA:168569
Fabry Disease
Renal insufficiency, Proteinuria, Angina pectoris, Myocardial infarction, Transient ischemic atta... OMIM:301500
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Diabetes mellitus, Transient ischemic attack, Cerebral hemorrhage, Stress urinary incontinence, I... ORPHA:136
Stiff Skin Syndrome
Type II diabetes mellitus, Abnormal circulating lipid concentration, Hypertension, Nephrolithiasis ORPHA:2833
Acute Intermittent Porphyria
Dark urine, Hyponatremia, Renal insufficiency, Tachycardia, Restlessness, Dysuria, Urinary incont... ORPHA:79276
Tetanus
Tachycardia, Elevated circulating creatine kinase concentration, Elevated urinary norepinephrine ... ORPHA:3299
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Anorexia, Atrioventricular block, Nephropathy, ... ORPHA:324
Primary Fanconi Renotubular Syndrome
Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... ORPHA:3337
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Hyperlipidemia, Permanent atrial fibrillation, Inflam... ORPHA:31825
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormality of thyroid physiology, Abnormal blood ion concentration, Abnormal ... ORPHA:411629
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Renal insufficiency, Hyperkalemia, Renal hypoplasia, Tubulointers... OMIM:617595
Caudal Regression Syndrome
Ureteral duplication, Renal insufficiency, Renal agenesis, Maternal diabetes, Ectopic kidney, Imp... ORPHA:3027
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,... OMIM:145600
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Diabetes mellitus, Congestive heart failure, Abnormal left ventri... OMIM:540000
Pseudohypoaldosteronism, Type Iia
Hypertension, Pseudohypoaldosteronism, Hyperkalemia OMIM:145260
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Pericarditis,... OMIM:619487
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Renal insufficiency, Tachycardia, Atrial fibrillation, Gastritis, C... ORPHA:31826
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Diabetic... OMIM:615238
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav... ORPHA:101016
Familial Cervical Artery Dissection
Diabetes mellitus, Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral hemorrh... ORPHA:36382
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Igg4-Related Retroperitoneal Fibrosis
Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Hashimoto th... ORPHA:49041
Takayasu Arteritis
Abnormal endocardium morphology, Abnormal heart valve morphology, Myocardial infarction, Anorexia... ORPHA:3287
Renal Agenesis
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ventricular septal d... ORPHA:411709
Ganglioneuroma
Gastrointestinal hemorrhage, Functional intestinal obstruction, Neoplasm of the adrenal gland, Ha... ORPHA:251992
Carbamoyl-Phosphate Synthetase 1 Deficiency
Hypoargininemia, Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication ORPHA:147
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... OMIM:306955
Distal Renal Tubular Acidosis
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... ORPHA:18
Apparent Mineralocorticoid Excess
Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l... OMIM:218030
Neuroleptic Malignant Syndrome
Urinary incontinence, Elevated circulating creatine kinase concentration, Pulmonary embolism, Hyp... ORPHA:94093
Amelogenesis Imperfecta, Type Ig
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis OMIM:204690
Liddle Syndrome 2
Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l... OMIM:618114
Liddle Syndrome 3
Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l... OMIM:618126
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... ORPHA:449395
Diffuse Cutaneous Systemic Sclerosis
Renal insufficiency, Telangiectasia of the skin, Malabsorption, Congestive heart failure, Xerosto... ORPHA:220393
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Precocious puberty, Hyper... OMIM:614736
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Lipodystrophy, Familial Partial, Type 1
Hypertension, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hepatomegaly OMIM:608600
Rabson-Mendenhall Syndrome
Increased pineal volume, Enlarged ovaries, Ventricular septal defect, Precocious puberty, Insulin... ORPHA:769
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Nephrolithiasis OMIM:222730
Hemorrhagic Fever-Renal Syndrome
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... ORPHA:340
Hereditary Pheochromocytoma-Paraganglioma
Positive regitine blocking test, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, P... ORPHA:29072
Nephroblastoma
Hematuria, Hypertension, Nephroblastoma, Neoplasm of the liver ORPHA:654
Glycogen Storage Disease Ic
Hepatomegaly, Renal insufficiency, Proteinuria, Spider hemangioma, Hepatocellular carcinoma, Hype... OMIM:232240
Porphyria, Acute Intermittent
Tachycardia, Dysuria, Urinary incontinence, Paralytic ileus, Hypertension, Urinary retention, Hep... OMIM:176000
Diaphanospondylodysostosis
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cleft palate, Cystic renal dysplasia, En... OMIM:608022
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Nephropathy, Arrhythmia, Abnormal renal phy... ORPHA:85447
Camptodactyly-Taurinuria Syndrome
Increased urinary taurine, Aminoaciduria ORPHA:1325
Tiglic Acidemia
Aminoaciduria OMIM:275190
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Prolonged QTc interval, Hyp... ORPHA:90065
Familial Glucocorticoid Deficiency
Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Recurrent urinary tract... ORPHA:361
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Hype... ORPHA:1345
Pseudohypoaldosteronism Type 2
Hypertension, Hyperkalemia ORPHA:757
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... ORPHA:563
Beckwith-Wiedemann Syndrome
Hepatomegaly, Adrenocortical cytomegaly, Hepatoblastoma, Cardiomegaly, Adrenocortical carcinoma, ... OMIM:130650
Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Decreased urinary potassium, Renal salt wasting, Hyperkale... ORPHA:427
Coach Syndrome 2
Hypertension, Hyperechogenic kidneys, Elevated circulating creatinine concentration OMIM:619111
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma ORPHA:882
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Hyperthyroidism, Hypokalemia, Palpitations, Goiter OMIM:188580
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Nephrolithiasis, Increased circulating ACTH level, Hypertension, Hypokalemia OMIM:219090
Pheochromocytoma
Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev... OMIM:171300
Coach Syndrome 1
Hepatomegaly, Unilateral renal agenesis, Portal hypertension, Splenomegaly, Multiple small medull... OMIM:216360
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria OMIM:242550
Schimke Immuno-Osseous Dysplasia
Proteinuria, Abnormality of thyroid physiology, Transient ischemic attack, Minimal change glomeru... ORPHA:1830
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Hyperinsulinemia, Hypertension ORPHA:363400
Glutaric Aciduria Iii
Glutaric aciduria, Hyperthyroidism, Hypertension, Goiter OMIM:231690
Alstrom Syndrome
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Hypergonadotr... OMIM:203800
Ornithine Transcarbamylase Deficiency
Splenomegaly, Pyloric stenosis, Aminoaciduria, Hyperammonemia ORPHA:664
Familial Partial Lipodystrophy, Köbberling Type
Hypertension, Diabetes mellitus, Hyperinsulinemia, Hepatomegaly ORPHA:79084
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Pericardial effusion, Abnormal renal tubular resorption, Congestive heart f... ORPHA:73224
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Hypotension OMIM:620125
Glutamate Formiminotransferase Deficiency
Aminoaciduria, Elevated urinary formiminoglutamic acid level, Positive ferric chloride test OMIM:229100
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... OMIM:235400
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Pulmonary embolism, Hyperlipidemia, Chronic kidney disease, St... ORPHA:567546
Nelson Syndrome
Increased urinary cortisol level, Pituitary corticotropic cell adenoma, Adrenocorticotropic hormo... ORPHA:199244
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... ORPHA:189427
Mercaptolactate-Cysteine Disulfiduria
High, narrow palate, Aminoaciduria, High palate OMIM:249650
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Increased circulating renin level, Renal salt wasting OMIM:619406
Meacham Syndrome
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial anomalous pulmonary venou... OMIM:608978
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased c... OMIM:177735
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Congenital adrenal hyperplasia, Long penis, Decreased circulating aldosterone level, Adrenogenita... OMIM:202010
Gaisböck Syndrome
Hypertriglyceridemia, Diabetes mellitus, Angina pectoris, Myocardial infarction, Peptic ulcer, Sp... ORPHA:90041
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Elevated circulating creatinine concentration, Capillary leak, Reduced ... ORPHA:542323
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Aminoaciduria ORPHA:79238
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Renal insufficiency, Memb... ORPHA:91139
Lipodystrophy, Familial Partial, Type 6
Diabetes mellitus, Elevated circulating creatine kinase concentration, Hyperlipidemia, Hypertensi... OMIM:615980
Stimmler Syndrome
Aminoaciduria, Type II diabetes mellitus ORPHA:3199
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Proteinuria, Raynaud phenomenon, Elevated circulating creatinine con... ORPHA:247691
Alport Syndrome 1, X-Linked
Hypoparathyroidism, Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, T... OMIM:301050
Acute Adrenal Insufficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Decreased urinary potassium, Renal salt... ORPHA:95409
Overlap Myositis
Diabetes mellitus, Abnormality of the kidney, Elevated circulating creatine kinase concentration,... ORPHA:206572
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Ventricular septal defect, Hematuria, Hypertension, Second degree atrioventricu... OMIM:617021
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Hypertension, Increas... OMIM:615954
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Ventricula... ORPHA:159
Fanconi Renotubular Syndrome 2
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Hypophosphatemia, Re... OMIM:613388
Vipoma
Anorexia, Benign gastrointestinal tract tumors, Hepatomegaly, Follicular thyroid carcinoma, Hemat... ORPHA:97282
Galactosemia I
Hepatomegaly, Hypergonadotropic hypogonadism, Increased level of galactitol in plasma, Albuminuri... OMIM:230400
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Intestinal malrotation, Hamartoma of tongue, Cleft palate, Polycystic kidney dysplasia, Anal atre... OMIM:613091
Hyperkalemic Periodic Paralysis
Hyponatremia, Elevated circulating creatine kinase concentration, Congestive heart failure, Hyper... ORPHA:682
Cirrhosis, Familial
Esophageal varix, Increased level of L-fucose in urine, Increased level of propylene glycol in bl... OMIM:215600
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Hepatomegaly, Proteinuria, Ventricular septal defect, Conjugated hyperbilirubinemia, Nephrogenic ... OMIM:613404
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Increased serum pyruvate, Congestive heart failure, Dilated cardiomyopathy, Hypertension, Hypertr... ORPHA:1349
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Hypokalemia, Hyp... OMIM:174900
Lipodystrophy, Familial Partial, Type 4
Hypertension, Insulin-resistant diabetes mellitus, Hypertriglyceridemia OMIM:613877
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Diabetes mellitus, Acute colitis, Intestinal perforation, Myocarditis, Hype... ORPHA:544482
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Proteinuria, Increased intestinal transit time, Grade... OMIM:619377
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Adrenocortical adenoma, Mildly elevated creatine kinase, Impaired myocardia... ORPHA:681
Glycogen Storage Disease Due To Aldolase A Deficiency
Myoglobinuria, Hyperkalemia, Arrhythmia, Elevated creatine kinase after exercise, Acute kidney in... ORPHA:57
Melorheostosis With Osteopoikilosis
Hypertension ORPHA:1879
Pearson Syndrome
Decreased response to growth hormone stimulation test, Renal cyst, Hypocalcemia, Hypothyroidism, ... ORPHA:699
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria ORPHA:2278
Cocaine Intoxication
Prolonged QRS complex, Elevated circulating creatine kinase concentration, Myocardial infarction,... ORPHA:90068
Beta-Ketothiolase Deficiency
Hepatomegaly, Ketonuria, Anorexia, Hyperammonemia, Hypertension, Agitation, Hyperuricemia, Hypote... ORPHA:134
Moyamoya Disease 6 With Or Without Achalasia
Raynaud phenomenon, Hypertension, Ischemic stroke, Dysphagia, Achalasia OMIM:615750
Beckwith-Wiedemann Syndrome
Ureteral duplication, Cardiomegaly, Hepatoblastoma, Vesicoureteral reflux, Nephropathy, Hypothyro... ORPHA:116
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Aminoacidur... OMIM:249270
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Infant Botulism
Hyponatremia, Cardiac arrest, Anorexia, Xerostomia, Hypertension, Hypotension, Dysphagia ORPHA:178478
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... OMIM:102200
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hepatomegaly, Hypoplasia of the small intestine, Cystic renal dysplasia, Enlar... OMIM:200995
Phenylketonuria
Aminoaciduria ORPHA:716
Acquired Generalized Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Proteinuria, Insulin-resistant diabetes mellitus, Hyperinsuli... ORPHA:79086
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyroto... ORPHA:79102
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Epistaxis, Pericardial effusion, Splenomegaly, Hepatosplenomegaly, Subconjun... ORPHA:464329
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertensi... OMIM:208000
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Congestive... OMIM:252500
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Proteinuria, Hypouricemia, Hypophosphatemia, ... OMIM:616026
Riboflavin Transporter Deficiency
Aggressive behavior, Hypertension, Hypogonadism, Dysphagia, Diabetes insipidus ORPHA:97229
Alg9-Cdg
Hypoplasia of the bladder, Villous atrophy, Tricuspid regurgitation, Hepatomegaly, Ureteral hypop... ORPHA:79328
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Hypertension, Telangiectases producing 'marbled' skin OMIM:206570
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin-resista... OMIM:604367
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... OMIM:300009
Renal Hypodysplasia/Aplasia 1
Hypertension, Bilateral renal agenesis, Proteinuria, Renal dysplasia OMIM:191830
Bardet-Biedl Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Nephrotic syndrome, Hypertension, Hypoplasia o... ORPHA:110
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome... OMIM:255120
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Hypoalbuminemia, Cardiomegaly, Congenital hypothyroidism ORPHA:88643
Cardiac-Urogenital Syndrome
Tachycardia, Penoscrotal hypospadias, Cor triatrium sinister, Intestinal malrotation, Coronary si... OMIM:618280
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating creatine kinase concentration, Cardiomegaly, Heart block, High, narrow palat... ORPHA:228308
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypospadias, Renal salt wasting, Increased ci... ORPHA:90791
Scorpion Envenomation
Bundle branch block, Tachycardia, Ketonuria, Increased circulating NT-proBNP concentration, Restl... ORPHA:466677
Wagro Syndrome
Proteinuria, Aggressive behavior, Hypertension, Agitation, Compulsive behaviors, Nephroblastoma, ... OMIM:612469
Paroxysmal Nocturnal Hemoglobinuria
Hemosiderinuria, Renal insufficiency, Proteinuria, Esophageal spasms, Decreased serum iron, Myoca... ORPHA:447
Hypertension And Brachydactyly Syndrome
Hypertension OMIM:112410
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Neuroblastoma, Susceptibility To, 1
Elevated urinary catecholamine level, Elevated urinary dopamine level, Abnormality of urine catec... OMIM:256700
Dent Disease
Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent... ORPHA:1652
Pediatric-Onset Graves Disease
Hepatomegaly, Hyperactivity, Atrial fibrillation, Puberty and gonadal disorders, Congestive heart... ORPHA:525731
Multiple Endocrine Neoplasia Type 2
Elevated circulating parathyroid hormone level, Pheochromocytoma, Ganglioneuromatosis, Elevated u... ORPHA:653
Helsmoortel-Van Der Aa Syndrome
Recurrent urinary tract infections, Hyperactivity, Decreased response to growth hormone stimulati... OMIM:615873
Lymphoid Interstitial Pneumonia
Raynaud phenomenon, Hepatomegaly, Pulmonary venous hypertension, Enlarged kidney ORPHA:79128
Attrv122I Amyloidosis
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... ORPHA:85451
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Tachycardia, Elevated circulating creatinine concentration, Hypertension... OMIM:223900
Hydroxykynureninuria
Aminoaciduria OMIM:236800
Systemic Capillary Leak Syndrome
Renal insufficiency, Pericarditis, Myocarditis, Oliguria, Hypotension, Arrhythmia, Abnormal renal... ORPHA:188
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Hyperte... ORPHA:77296
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Diabetes mellitus, Hyperthyroidism, Aggressive behavior, Abnormal repetitive manne... ORPHA:449291
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hypertension, Polycystic kidney dysplasia OMIM:600666
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Lead Poisoning
Decreased HDL cholesterol concentration, Anorexia, Chronic kidney disease, Renal tubular dysfunct... ORPHA:330015
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Hypertension, Renal cor... OMIM:613159
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Elevated circulating creatine kin... OMIM:201475
Addison Disease
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Decreased urinar... ORPHA:85138
Seckel Syndrome 10
Ventricular hypertrophy, Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, Elevat... OMIM:617253
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Myocardia... OMIM:618620
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... OMIM:264800
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Maternal diabetes, Congestive heart failur... ORPHA:79083
Ogden Syndrome
Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Ventricula... OMIM:300855
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Gastroes... ORPHA:534
3-Hydroxyisobutyric Aciduria
Aminoaciduria OMIM:236795
Duplication Of Urethra
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... ORPHA:237
Cirrhotic Cardiomyopathy
Increased circulating NT-proBNP concentration, Cardiomegaly, Global systolic dysfunction, Hepatom... ORPHA:57777
Arteriosclerosis, Severe Juvenile
Myocardial infarction, Chronic kidney disease, Hypertension, Gastric ulcer, Delayed puberty OMIM:208060
Multiple Endocrine Neoplasia Type 1
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e... ORPHA:652
Andersen-Tawil Syndrome
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... ORPHA:37553
Schimke Immunoosseous Dysplasia
Renal insufficiency, Proteinuria, Transient ischemic attack, Elevated circulating thyroid-stimula... OMIM:242900
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Proteinuria, Hiatus hernia, Stage 5 chronic kidney disease, Nephroti... OMIM:617729
Renal Tubular Dysgenesis
Renotubular dysgenesis, Abnormality of the urinary system, Anuria, Hypotension OMIM:267430
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Adrenocorticotropic hormone excess, Adrenal insufficiency, Hyperaldosteronism, Renal salt wasting OMIM:613743
Fanconi-Bickel Syndrome
Hepatomegaly, Hyperphosphaturia, Hypertriglyceridemia, Diabetes mellitus, Hepatocellular carcinom... ORPHA:2088
Methylcobalamin Deficiency Type Cble
Glomerulopathy, Hypomethioninemia, Hemolytic-uremic syndrome, Hyperhomocystinemia, Hypertension ORPHA:2169
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Pericarditis, Epistaxis, Conges... ORPHA:727
Familial Dysautonomia
Hyponatremia, Glomerulopathy, Renal insufficiency, Orthostatic hypotension, Tachycardia, Abnormal... ORPHA:1764
Primary Progressive Freezing Gait
Hypertension, Restless legs, Urinary incontinence, Dysphagia ORPHA:75567
Hemochromatosis, Type 1
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Increased circulati... OMIM:235200
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Hyperparathyroidism, Gastroesophageal reflux, Unilateral renal agenesis OMIM:618188
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypospadias, Hyperammonemia, Hypertension, 3-Methylglutaconic aciduria, Arrhythmia, Neonatal deat... OMIM:614052
Hyperaldosteronism, Familial, Type Iv
Hypertension, Hyperaldosteronism OMIM:617027
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hyperactivity, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Aggr... OMIM:252920
Hardikar Syndrome
Vesicoureteral reflux, Atrial septal defect, Bladder exstrophy, Patent foramen ovale, Hepatomegal... OMIM:301068
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Abnormal endocardium morphology, Angina pectoris, Telangiectasia of ... ORPHA:758
Sickle Cell Disease
Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Hematuria, Hypertension OMIM:603903
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Atrophic gastritis, Hypertriglyceridemia, Villous atrophy, Necrotizing enterocoliti... OMIM:619573
Malignant Hyperthermia Of Anesthesia
High-output congestive heart failure, Myoglobinuria, Hyperkalemia, Ventricular tachycardia, Cardi... ORPHA:423
Zttk Syndrome
Aortic regurgitation, Ventricular septal defect, Polyuria, Unilateral renal agenesis, Submucous c... OMIM:617140
Endocrine-Cerebroosteodysplasia
Hypospadias, Adrenal hypoplasia, Microphallus, Hyperechogenic kidneys, Median cleft palate, Enlar... OMIM:612651
Methionine Malabsorption Syndrome
Aminoaciduria, Positive ferric chloride test OMIM:250900
Tuberous Sclerosis Complex
Pancreatic endocrine tumor, Renal cyst, Pheochromocytoma, Carcinoid tumor, Internal hemorrhage, H... ORPHA:805
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Hypertriglyceridemia, Polyuria, Hypertension, Pulmonary arterial hyperte... OMIM:606721
Congenital Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Adrenocorti... ORPHA:199296
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Atrial septal defect, Ventricular septal defect, Conjugated hyperbilirubinemia, Nephrogenic diabe... OMIM:208085
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria OMIM:204730
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level OMIM:620126
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... ORPHA:66529
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... ORPHA:91347
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Aminoaciduria, Elevated circulating creatine kinase concentration OMIM:609560
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... OMIM:615605
Serotonin Syndrome
Restlessness, Tachycardia, Hypertension, Agitation, Hypotension, Acute kidney injury ORPHA:43116
Alagille Syndrome
Hepatomegaly, Telangiectasia of the skin, Ventricular septal defect, Renal hypoplasia/aplasia, Ab... ORPHA:52
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria,... ORPHA:900
Osteopetrosis, Autosomal Recessive 9
Hyperparathyroidism, Stage 3 chronic kidney disease, Elevated circulating creatinine concentratio... OMIM:620366
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... OMIM:211900
Refsum Disease, Classic
Cardiomegaly, Congestive heart failure, Elevated circulating phytanic acid concentration, Cardiom... OMIM:266500
Postinfectious Vasculitis
Abnormal circulating protein concentration, Cerebral vasculitis, Membranoproliferative glomerulon... ORPHA:48435
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h... ORPHA:280679
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hepatomegaly, Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic aciduria OMIM:604273
Pheochromocytoma/Paraganglioma Syndrome 4
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tachycardia, Elevated urinary cate... OMIM:115310
Grange Syndrome
Aortic regurgitation, Hypertension, Ventricular septal defect ORPHA:79094
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Secundum atrial septal defect, Hypertension, Renal hypoplasia, Absence of renal corticomedullary ... OMIM:619758
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypoparathyroidism, Decreased circulating cortisol level, Orthostatic hypotension, ... ORPHA:199299
Glutamate-Cysteine Ligase Deficiency
Aminoaciduria, Hepatosplenomegaly ORPHA:33574
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... OMIM:300845
Sepsis In Premature Infants
Hepatomegaly, Tachycardia, Elevated circulating C-reactive protein concentration, Splenomegaly, G... ORPHA:90051
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... OMIM:618052
Pseudohypoparathyroidism Type 1A
Calcinosis, Prolonged QT interval, Hypergonadotropic hypogonadism, Decreased response to growth h... ORPHA:79443
Marburg Hemorrhagic Fever
Shock, Abnormality of the gastrointestinal tract, Renal insufficiency, Tachycardia, Pericarditis,... ORPHA:99826
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Glucocortocoid-insensitive primary hyperaldosteronism, Hyperkalemia, Hypovolemic sh... ORPHA:171876
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level OMIM:605115
Moyamoya Disease With Early-Onset Achalasia
Raynaud phenomenon, Hypertension ORPHA:401945
Fragile X-Associated Tremor/Ataxia Syndrome
Hypertension, Pollakisuria, Hypotension, Dysphagia, Compulsive behaviors, Urinary bladder sphinct... ORPHA:93256
Von Hippel-Lindau Disease
Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Myocardial infarction, Pancr... ORPHA:892
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Aminoaciduria, Proximal tubulopathy OMIM:612075
Joubert Syndrome 14
Ventricular septal defect, Cleft palate, Renal cyst, Intracranial hemorrhage, Hypertension OMIM:614424
Lujo Hemorrhagic Fever
Shock, Renal insufficiency, Elevated circulating C-reactive protein concentration, Myocarditis, O... ORPHA:319213
Encephalopathy Due To Sulfite Oxidase Deficiency
Aminoaciduria ORPHA:833
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... ORPHA:289548
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Telangiectasia of the skin, Enlarged kidney ORPHA:276280
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
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia, Ventricular arrhythmia OMIM:141000
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio... OMIM:615812
Pituitary Apoplexy
Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... ORPHA:95613
Lassa Fever
Shock, Oliguria, Dysphagia ORPHA:99824
Sneddon Syndrome
Hypertension, Bicuspid aortic valve, Ischemic stroke, Cerebral hemorrhage OMIM:182410
Juvenile Paget Disease
Hypertension, Hyperuricemia ORPHA:2801
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating ACTH concentration, Hypertension, Increased circulatin... OMIM:219080
X-Linked Hypohidrotic Ectodermal Dysplasia
Type I diabetes mellitus, Hypertension, Anterior hypopituitarism ORPHA:181
Andersen Cardiodysrhythmic Periodic Paralysis
Prolonged QT interval, Hyperthyroidism, Bidirectional ventricular ectopy, Cleft palate, Hypokalem... OMIM:170390
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Ventricular septal defect, Abnormal right ventri... ORPHA:500095
Glucocorticoid Resistance, Generalized
Increased circulating ACTH level, Hypertension, Increased circulating cortisol level, Increased s... OMIM:615962
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulo... OMIM:231680
Symptomatic Form Of Hfe-Related Hemochromatosis
Cholangiocarcinoma, Elevated jugular venous pressure, Diabetes mellitus, Hypogonadotropic hypogon... ORPHA:465508
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... ORPHA:95699
Mirage Syndrome
Hyponatremia, Recurrent urinary tract infections, Hypospadias, Hypergonadotropic hypogonadism, Ad... OMIM:617053
Xfe Progeroid Syndrome
Hypertension, Renal insufficiency, Proteinuria, Hypoalbuminemia OMIM:610965
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Increased circulating dehydr... OMIM:201810
Smith-Lemli-Opitz Syndrome
Gastrointestinal dysmotility, Renal cyst, Hypoalbuminemia, Gastroesophageal reflux, Hypocholester... OMIM:270400
Simpson-Golabi-Behmel Syndrome, Type 1
Renal cyst, Atrial septal defect, Hepatoblastoma, Exaggerated median tongue furrow, Hepatomegaly,... OMIM:312870
Alkaptonuria
Mitral valve calcification, Abnormal heart valve morphology, Myocardial infarction, Aortic valve ... ORPHA:56
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Elevated circulating creatine kinase concentration, Anorexia, Abnormal left ... ORPHA:99827
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Renal artery aneurysm, Portal hypertension, Elevated circulating C-reactive protein... OMIM:615688
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T... ORPHA:470
Williams-Beuren Syndrome
Bicuspid aortic valve, Rectal prolapse, Nephrocalcinosis, Early onset of sexual maturation, Gastr... OMIM:194050
Spondyloenchondrodysplasia
Proteinuria, Decreased response to growth hormone stimulation test, Raynaud phenomenon, Chronic k... ORPHA:1855
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ca... ORPHA:860
Secondary Intestinal Lymphangiectasia
Intestinal obstruction, Intestinal lymphedema, Increased stool alpha1-antitrypsin concentration, ... ORPHA:90363
Fixed Subaortic Stenosis
Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Bicuspid aortic valve, Ven... ORPHA:3092
Erythrocytosis, Familial, 1
Splenomegaly, Hypertension, Cerebral hemorrhage, Myocardial infarction OMIM:133100
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Hypertriglyceridemia, Congestive heart failu... ORPHA:363618
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiac arrest, Cardiomegaly, N... OMIM:617713
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomegaly, Right bundle bran... ORPHA:268
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Renal salt wasting, Abnormal urine pot... ORPHA:275761
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia, Adrenal hypoplasia, Adrenal insufficiency OMIM:240200
Paroxysmal Hemicrania
Hypertension, Restless legs, Diabetes mellitus ORPHA:157835
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension OMIM:616069
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Pulmonary arterial hypertension, Cardiomegaly OMIM:613320
Cockayne Syndrome Type 1
Hepatomegaly, Renal insufficiency, Proteinuria, Hypertension, Increased blood urea nitrogen, Male... ORPHA:90321
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, M... ORPHA:904
Werner Syndrome
Renal neoplasm, Telangiectasia of the skin, Myocardial infarction, Congestive heart failure, Hype... ORPHA:902
Dermotrichic Syndrome
Aminoaciduria, Aganglionic megacolon ORPHA:99688
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Ileal atresia, Megacystis, Pyelonephritis, Bidirectional shunt, Elevated pulmonary artery... OMIM:619351
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Aminoaciduria, Elevated circulating creatine kinase concentration, Methylmalonic aciduria ORPHA:1933
D-Glyceric Aciduria
Tongue thrusting, Nonketotic hyperglycinemia, Aminoaciduria, Gastroesophageal reflux, Bradycardia... OMIM:220120
Aortic Arch Interruption
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... ORPHA:2299
Familial Pseudohyperkalemia
Hypertension, Hyperkalemia ORPHA:90044
Acute Monoblastic/Monocytic Leukemia
Oliguria, Anorexia, Central hypothyroidism ORPHA:514
Acute Interstitial Pneumonia
Pericardial effusion, Hypertension, Elevated circulating creatinine concentration, Elevated circu... ORPHA:79126
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... ORPHA:436271
Hurler Syndrome
Hepatomegaly, Angina pectoris, Abnormal heart valve morphology, Splenomegaly, Macroglossia, Cardi... ORPHA:93473
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... OMIM:220110
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Tachycardia, ... OMIM:168000
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Aminoaciduria, Proteinuria, Pulmonary hemorrhage OMIM:603585
Argininosuccinic Aciduria
Hyperglutaminemia, Hyperammonemia, Aminoaciduria, Oroticaciduria, Hypoargininemia ORPHA:23
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricular ... ORPHA:308552
Wilson Disease
Hypoparathyroidism, Hepatomegaly, Hyperphosphaturia, Decreased circulating ceruloplasmin concentr... OMIM:277900
Systemic Lupus Erythematosus 17
Raynaud phenomenon, Mitral regurgitation, Hypertensive crisis OMIM:301080
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Tachycardia, Chemodectoma, Adrenal pheochromocytoma, Glomus jugula... OMIM:605373
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Transient ischemic attack, Cardiac arrest, Sudden cardiac ... OMIM:115197
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Sinus tachycardia, Elevated circulating creatine kinase concentration, Hyp... ORPHA:466650
Pigmented Nodular Adrenocortical Disease, Primary, 4
Diabetes mellitus, Adrenal hyperplasia, Hypertension, Increased circulating cortisol level, Prima... OMIM:615830
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Aminoaciduria, Hypogonadism, Arrhythmia OMIM:273400
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... ORPHA:729
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Congestive heart failure, Oliguria, Heart murmur, Bacterial endocarditis ORPHA:1054
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Autosomal Recessive Hypophosphatemic Rickets
Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Hypocalcemic tetany, M... ORPHA:289176
Bardet-Biedl Syndrome 1
Diabetes mellitus, Aganglionic megacolon, Abnormality of the kidney, Nephrogenic diabetes insipid... OMIM:209900
Monosomy 18P
Hypertension, Hypothyroidism, Cleft palate ORPHA:1598
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilir... OMIM:618528
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Aminoaciduria, Tetralogy of Fallot OMIM:250620
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Atrophic gastritis, Hematemesis, Increased circulating ferritin concentration, Peri... OMIM:615846
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Premature thelarche, Atri... ORPHA:371428
Au-Kline Syndrome
Chronic kidney disease, Dilatation of the renal pelvis, Cleft palate, Hypertension, Bifid uvula, ... OMIM:616580
Carey-Fineman-Ziter Syndrome
Aplasia/Hypoplasia of the tongue, Glandular hypospadias, Cleft palate, Glossoptosis, High palate,... ORPHA:1358
Danon Disease
Wolff-Parkinson-White syndrome, Myocardial necrosis, Elevated circulating creatine kinase concent... OMIM:300257
Autosomal Dominant Dopa-Responsive Dystonia
Hypertension, Hypothyroidism, Transient hyperphenylalaninemia, Compulsive behaviors ORPHA:98808
Pierson Syndrome
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Retinal hemorrhage, Nep... OMIM:609049
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... ORPHA:1457
Scalp-Ear-Nipple Syndrome
Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit... ORPHA:2036
Low Phospholipid-Associated Cholelithiasis
Diabetes mellitus, Hypertension, Neoplasm of the liver, Hepatocellular carcinoma, Hypercholestero... ORPHA:69663
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Increased circulating NT-proB... OMIM:232300
Gaucher Disease, Type I
Hepatomegaly, Epistaxis, Splenomegaly, Hypertension, Mitral regurgitation, Pulmonary arterial hyp... OMIM:230800
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Methylmalonic acidemia, Elevated circulating creatine kinase concentration, Methylmalonic aciduri... OMIM:612073
Von Hippel-Lindau Syndrome
Hypertension, Renal cell carcinoma, Multiple renal cysts, Pheochromocytoma, Paraganglioma, Hepati... OMIM:193300
Poliomyelitis
Anorexia, Paralytic ileus, Hypertension, Hypovolemic shock, Agitation, Hypotension, Dysphagia ORPHA:2912
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hepatomegaly, Cleft palate, Abnormal heart morphology, Aminoaciduria, Hypoplasia of the thymus, P... OMIM:214110
Gyrate Atrophy Of Choroid And Retina
Hyperornithinemia, Aminoaciduria ORPHA:414
Acute Transverse Myelitis
Orthostatic hypotension, Decreased circulating copper concentration, Urinary incontinence, Subara... ORPHA:139417
Netherton Syndrome
Aminoaciduria, Malabsorption, Hydronephrosis, Ectopic kidney ORPHA:634
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Insulin-resistant di... OMIM:151660
Hereditary Orotic Aciduria
Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria ORPHA:30
Postorgasmic Illness Syndrome
Hypertension, Xerostomia, Palpitations ORPHA:279947
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Hiatus hernia, Congestive hear... ORPHA:3342
Extracranial Carotid Artery Aneurysm
Diabetes mellitus, Subarachnoid hemorrhage, Vasculitis, Hypertension, Cerebral ischemia, Arteriti... ORPHA:494424
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Hypertension, Hypothyroidism OMIM:617763
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Sialidosis Type 1
Splenomegaly, Increased urinary O-linked sialopeptides, Aminoaciduria, Urinary excretion of sialy... ORPHA:812
Myhre Syndrome
Abnormal penis morphology, Hypospadias, Precocious puberty, Epispadias, Submucous cleft hard pala... ORPHA:2588
Prader-Willi Syndrome
Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Dec... ORPHA:739
Livedoid Vasculopathy
Diabetes mellitus, Telangiectasia of the skin, Hyperhomocystinemia, Hypertension, Ischemic stroke... ORPHA:542643
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Anorexia, Gastrointestinal stroma tumor, Hypertension, ... ORPHA:139411
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Orofaciodigital Syndrome I
Proteinuria, Hamartoma of tongue, Cleft palate, Tongue nodules, Abnormal heart morphology, Hypert... OMIM:311200
22Q11.2 Deletion Syndrome
Anorectal anomaly, Hypoplasia of the thymus, Hypocalcemia, Gastroesophageal reflux, Vesicouretera... ORPHA:567
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Transient aminoaciduria, Hyperphosphaturia, Hepatomegaly, Bicarbonat... OMIM:229600
Yellow Fever
Shock, Renal insufficiency, Anuria, Elevated circulating creatine kinase concentration, Supravent... ORPHA:99829
Familial Cerebral Saccular Aneurysm
Intracranial hemorrhage, Hypertension, Transient ischemic attack, Subarachnoid hemorrhage ORPHA:231160
Cockayne Syndrome
Hepatomegaly, Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilate... ORPHA:191
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Hypertension, Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Decreased response to growth hormone stimulation test, Central diabetes insipidus, ... ORPHA:293987
Classic Homocystinuria
Gastrointestinal hemorrhage, Hepatomegaly, Anorexia, Pulmonary embolism, Esophageal varix, Intrac... ORPHA:394
Scalp-Ear-Nipple Syndrome
Renal insufficiency, Unilateral renal agenesis, Congestive heart failure, Cardiac myxoma, Renal h... OMIM:181270
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Hepatomegaly, Stage 5 chronic kidney disease, Renal cyst, Hepatosplenomegal... OMIM:266920
Complete Atrioventricular Septal Defect
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... ORPHA:1329
Beare-Stevenson Cutis Gyrata Syndrome
Hypospadias, Narrow palate, Anteriorly placed anus, Hypertension, High palate, Bifid uvula OMIM:123790
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c... OMIM:201750
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hepatomegaly, Hypospadias, Ventricular septal defect, Adrenal hypoplasia, Protruding tongue, High... OMIM:214100
Cranioectodermal Dysplasia 2
Hepatomegaly, Renal insufficiency, Splenomegaly, Renal cyst, Cleft palate, Hypertension, High pal... OMIM:613610
Orofaciodigital Syndrome Type 1
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hamartoma of tongue, Cleft palate... ORPHA:2750
Homozygous Familial Hypercholesterolemia
Angina pectoris, Myocardial infarction, Sudden cardiac death, Hyperlipidemia, Renal steatosis, He... ORPHA:391665
Arterial Tortuosity Syndrome
Aortic regurgitation, Ventricular hypertrophy, Hiatus hernia, Hypertension, Ischemic stroke, High... OMIM:208050
Turner Syndrome Due To Structural X Chromosome Anomalies
Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, High, narrow palate, Gastrointestin... ORPHA:99413
Turner Syndrome
Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, High, narrow palate, Gastrointestin... ORPHA:881
Mosaic Monosomy X
Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, High, narrow palate, Gastrointestin... ORPHA:99228
Monosomy X
Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, High, narrow palate, Gastrointestin... ORPHA:99226
Alexander Disease
Diabetes mellitus, Sudden cardiac death, Precocious puberty, Hypertension, Self-injurious behavio... ORPHA:58
Systemic Lupus Erythematosus
Proteinuria, Lupus nephritis, Pyuria, Raynaud phenomenon, Hematuria, Hypertension ORPHA:536
Mucopolysaccharidosis Type 2
Hepatomegaly, Hyperactivity, Abnormal heart valve morphology, Abnormal pulmonary valve morphology... ORPHA:580
Atypical Werner Syndrome
Renal neoplasm, Hypertriglyceridemia, Diabetes mellitus, Telangiectasia of the skin, Abnormal cir... ORPHA:79474
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1,... ORPHA:293978
Stiff-Person Syndrome
Hypertension, Tachycardia, Diabetes mellitus OMIM:184850
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, ... ORPHA:91387
Mucopolysaccharidosis Type 2, Severe Form
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Heparan sulfate excretion i... ORPHA:217085
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Ketonuria, Hypospadias, Bicuspid aortic valve, Mitral atresia, Aortic valve atresia, Hyperammonem... OMIM:220111
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Heparan sulfate excretion i... ORPHA:217093
Cushing Syndrome Due To Ectopic Acth Secretion
Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Myocardial... ORPHA:99889
Acromegaly
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysuria, Elevated circulating growth hormone co... ORPHA:963
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Hyperphosphaturia, Transient ischemic attack, Adrenal calcification, Lef... ORPHA:51608
Lysinuric Protein Intolerance
Hepatomegaly, Hypolysinemia, Increased circulating ferritin concentration, Splenomegaly, Stage 5 ... OMIM:222700
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Nephrocalcinosis, Cardiomyopathy, Aminoaciduria, Splenomegaly OMIM:616084
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Elevated circulating creatine kinase concentration, Intraventricular hemorrhage, Aminoaciduria, H... OMIM:619055
Apert Syndrome
Esophageal atresia, Cleft palate, Narrow palate, Hypertension, Ectopic anus, Bifid uvula ORPHA:87
Central Hypoventilation Syndrome, Congenital, 3
Episodic hypertension OMIM:619483
Cockayne Syndrome A
Hepatomegaly, Renal insufficiency, Proteinuria, Splenomegaly, Hypertension, Thymic hormone decrea... OMIM:216400
Argininosuccinic Aciduria
Hepatomegaly, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Aminoaciduria, Or... OMIM:207900
Multisystemic Smooth Muscle Dysfunction Syndrome
Intestinal malrotation, Hypoperistalsis, Hypertension, Atrial septal defect, Pulmonary arterial h... OMIM:613834
Nestor-Guillermo Progeria Syndrome
Left atrial enlargement, Decreased serum leptin, Right bundle branch block, Hypertension, Mitral ... OMIM:614008
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Anteriorly placed anus, Hypertension, Cleft palate, Narrow palate ORPHA:1555
Congenital Disorder Of Glycosylation, Type Iim
Vesicovaginal fistula, Hypertension, High palate, Gastroesophageal reflux, Atrial septal defect, ... OMIM:300896
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Aminoaciduria, Ketonuria, High palate OMIM:614520
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Ventricular septal defect, Retinal hemorrhage, Hypertension, High palate, Bradycardi... OMIM:614653
Somatomammotropinoma
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysuria, Elevated circulating growth hormone co... ORPHA:314769
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Hyperkalemia, Increased ... ORPHA:90790
Fumarase Deficiency
Necrotizing enterocolitis, Bilateral fetal pyelectasis, Increased urine succinate level, Elevated... OMIM:606812
Liver Disease, Severe Congenital
Chronic gastritis, Cardiomegaly, Abnormal left ventricular function, Aminoaciduria, Protein-losin... OMIM:619991
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hypertension, High palate, High, narrow palate, Mitral valve prolapse OMIM:616914
Xq21 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... ORPHA:1435
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Hypokalemia, Gastroesophageal reflux OMIM:618426
Cockayne Syndrome B
Hepatomegaly, Renal insufficiency, Proteinuria, Splenomegaly, Hypertension, Arrhythmia, Micropenis OMIM:133540
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Ventricular septal defect, Muscular ventricular septal defect, Renal hypoplasia, Renal cyst, Hype... OMIM:210710
Blau Syndrome
Clear cell renal cell carcinoma, Pericarditis, Splenomegaly, Xerostomia, Stage 5 chronic kidney d... ORPHA:90340
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Eleva... OMIM:309000
Yunis-Varon Syndrome
Hypospadias, Ventricular septal defect, Cardiomegaly, High, narrow palate, Pyloric stenosis, Reno... ORPHA:3472
Hunter-Macdonald Syndrome
Aortic regurgitation, Bicuspid aortic valve, Hypospadias, Mitral valve prolapse, Hypertension, Mi... OMIM:611962
Combined Oxidative Phosphorylation Deficiency 14
Aminoaciduria, Elevated hepatic iron concentration OMIM:614946
Histidinemia
Histidinuria, Hyperactivity, Hyperhistidinemia ORPHA:2157
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating C-reactive protein concentration, Anorexia, Elevated circulating creatinine ... ORPHA:91500
Hallermann-Streiff Syndrome
Hyperactivity, High, narrow palate, Narrow palate, Telangiectasia, Hypertension, High palate, Pul... OMIM:234100
Marshall-Smith Syndrome
Ventricular septal defect, Pyloric stenosis, Premature ventricular contraction, Anteriorly placed... OMIM:602535
Alström Syndrome
Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali... ORPHA:64
Isolated Ectopia Lentis
Hypertension ORPHA:1885
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Ventricular sep... OMIM:614947
Vascular Ehlers-Danlos Syndrome
Hypospadias, Telangiectasia of the skin, Transient ischemic attack, Abnormal heart valve morpholo... ORPHA:286
Hutchinson-Gilford Progeria Syndrome
Myocardial infarction, Intracranial hemorrhage, High palate, Abnormal mitral valve morphology, Ra... ORPHA:740
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... OMIM:600376
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f... ORPHA:1677
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Multicystic kidney dysplasia, Renal agenesis, Hypospadias, Unilateral renal agenesis, Aganglionic... OMIM:308205
17Q11 Microdeletion Syndrome
Telangiectasia of the skin, Precocious puberty, Gastrointestinal stroma tumor, Renovascular hyper... ORPHA:97685
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Conjugated hyperbilirubinemia, Hepatomegaly, Hyperkalemia, Splenomegaly OMIM:608885
Familial Osteodysplasia, Anderson Type
Hypertension, Hyperuricemia ORPHA:2769
Neurofibromatosis Type 1
Abnormality of the upper urinary tract, Abnormality of the endocrine system, Precocious puberty, ... ORPHA:636
Interstitial Lung And Liver Disease
Hepatomegaly, Aminoaciduria, Hypothyroidism, Hyperammonemia OMIM:615486
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Elevated circulating growth hormone ... ORPHA:1359
Familial Bicuspid Aortic Valve
Aortic regurgitation, Bicuspid aortic valve, Aortic valve calcification, Heart murmur, Hypertensi... ORPHA:402075
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Ventricular septal defect, Cleft palate, Hypertension, Hypoplastic left he... OMIM:100300
Neurofibromatosis, Type I
Parathyroid adenoma, Hypertension, Pheochromocytoma, Renal artery stenosis OMIM:162200
Cutis Marmorata Telangiectatica Congenita
Hypertension, Telangiectasia OMIM:219250
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Lacticaciduria, Tubulointerstitial nephritis, Aminoaciduria, Neonatal death, Hy... OMIM:124000
Myhre Syndrome
Ventricular septal defect, Pericardial effusion, Cleft palate, Hypertension, Atrial septal defect... OMIM:139210
Kanzaki Disease
Telangiectasia of the oral mucosa, Increased urinary O-linked sialopeptides, Lip telangiectasia, ... OMIM:609242
X-Linked Intellectual Disability, Armfield Type
Cleft palate, Aminoaciduria, Organic aciduria, Abnormal cardiac septum morphology, Galactosuria ORPHA:85276
Xeroderma Pigmentosum
Conjunctival telangiectasia, Telangiectasia of the skin, Telangiectasia, Aminoaciduria, Hypogonadism ORPHA:910
Blau Syndrome
Hypertension, Pericarditis OMIM:186580
Keutel Syndrome
Hypertension, Ventricular septal defect, Pulmonic stenosis OMIM:245150

Histopathology

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

There is no histopathology data for Hsd11b2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Hsd11b2.

No publications found that use IMPC mice or data for Hsd11b2.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Hsd11b2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Hsd11b2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

The IMPC Newsletter

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

Subscribe to newsletter