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Gene: Cyp11b2 MGI:88584

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
cytochrome P450, family 11, subfamily b, polypeptide 2
Synonyms:
steroid-11-beta-hydroxylase,  Cyp11b,  aldosterone synthase,  Cyp11b-2

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 Cyp11b2 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 Cyp11b2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Corticosterone Methyloxidase Type Ii Deficiency
Failure to thrive, Decreased circulating aldosterone level, Orthostatic hypotension, Increased ci... OMIM:610600
Early-Onset Familial Hypoaldosteronism
Failure to thrive, Decreased circulating aldosterone level, Orthostatic hypotension, Elevated ser... ORPHA:556030
Corticosterone Methyloxidase Type I Deficiency
Failure to thrive, Decreased circulating aldosterone level, Hypotension, Increased circulating re... OMIM:203400
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Adrenogenital syndrome, Decreased circulating renin level, Hyperaldosteronis... OMIM:103900
Familial Hyperaldosteronism Type I
Hypokalemia, Intracranial hemorrhage, Adrenal hyperplasia, Abnormal circulating renin, Hypertensi... ORPHA:403
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Decreased circulating aldosterone level, Hypokalemia, Hyperte... OMIM:202010
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Precocious puberty, Hypokalemia, Decreased circulating cortis... ORPHA:90795

The table below shows human diseases predicted to be associated to Cyp11b2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Corticosterone Methyloxidase Type Ii Deficiency
Failure to thrive, Decreased circulating aldosterone level, Orthostatic hypotension, Increased ci... OMIM:610600
Late-Onset Familial Hypoaldosteronism
Failure to thrive, Decreased circulating aldosterone level, Orthostatic hypotension, Elevated ser... ORPHA:556037
Early-Onset Familial Hypoaldosteronism
Failure to thrive, Decreased circulating aldosterone level, Orthostatic hypotension, Elevated ser... ORPHA:556030
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperactive renin-angiotensin system, Failure to thrive, Hyperaldosteronism, Increased circulatin... OMIM:177735
Corticosterone Methyloxidase Type I Deficiency
Failure to thrive, Decreased circulating aldosterone level, Hypotension, Increased circulating re... OMIM:203400
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Adrenogenital syndrome, Decreased circulating renin level, Hyperaldosteronis... OMIM:103900
Genetic Recurrent Myoglobinuria
Dark urine, Recurrent myoglobinuria, Hypocalcemia, Elevated aldolase level, Type 2 muscle fiber a... ORPHA:99845
Adenine Phosphoribosyltransferase Deficiency
Nephrolithiasis, Dysuria, Chronic kidney disease, Abnormal enzyme/coenzyme activity, Macroscopic ... ORPHA:976
Diarrhea 1, Secretory Chloride, Congenital
Hyperactive renin-angiotensin system, Failure to thrive, Hypokalemia, Hyponatremia, Hyperaldoster... OMIM:214700
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Hypovolemic shock, Glucocortocoid-insensitive primary hyperaldosteronism, Arrhyth... ORPHA:171876
Liddle Syndrome
Hypokalemia, Nephropathy, Arrhythmia, Cerebral ischemia, Renal insufficiency, Hypertension ORPHA:526
Apparent Mineralocorticoid Excess
Failure to thrive, Decreased circulating aldosterone level, Hypokalemia, Small for gestational ag... OMIM:218030
Familial Hypoaldosteronism
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Orthostatic hy... ORPHA:427
Adenine Phosphoribosyltransferase Deficiency
Nephrolithiasis, 2,8-dihydroxyadenine crystalluria, Urolithiasis, Hematuria, Oliguria, Elevated c... OMIM:614723
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased serum testosterone level, Decreased circulating aldosterone level, Adrenocorticotropic ... ORPHA:90791
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperactive renin-angiotensin system, Failure to thrive, Hyperaldosteronism, Hypotension, Hyponat... OMIM:264350
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Increased circulating renin level OMIM:619406
Nephronophthisis-Like Nephropathy 2
Polydipsia, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibrosis, Ren... OMIM:619468
Renal Glucosuria
Polydipsia, Polyuria, Glycosuria, Polyphagia, Enuresis nocturna OMIM:233100
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism, Hyperten... OMIM:613677
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Elevated circulating alkaline phosphatase concentration, Elevated alpha-fetoprotein,... OMIM:613095
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating renin level, Decreased circulating aldosterone level, Hypertension OMIM:605115
Diabetes Insipidus, Neurohypophyseal, X-Linked
Polyuria, Hypokalemia, Hydronephrosis, Polydipsia OMIM:304900
Pseudohypoaldosteronism, Type Iib
Hypertension, Pseudohypoaldosteronism, Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hypertension, Pseudohypoaldosteronism, Hyperchloremia, Hyperkalemia OMIM:614495
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Hypophosphatemia, Polyuria, Hypercalciuria, Hypercalcemia, Medullary nep... OMIM:616963
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Hypochloremia, Increased circulating renin level OMIM:300971
Familial Hyperaldosteronism Type Ii
Hypokalemia, Intracranial hemorrhage, Adrenal hyperplasia, Abnormal circulating renin, Hypertensi... ORPHA:404
Hypocalcemia, Autosomal Dominant 1
Decreased circulating parathyroid hormone level, Hypomagnesemia, Hypokalemia, Hypocalcemia, Incre... OMIM:601198
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Hypotension, Adrenal hypoplasia, Hepatitis, Hyponatremia, P... ORPHA:199296
Type 1 Diabetes Mellitus
Polyphagia, Polyuria, Decreased level of 1,5 anhydroglucitol in serum, Polydipsia OMIM:222100
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Hyperammonemia, Elevated creatine kinase after ... ORPHA:159
Familial Hyperaldosteronism Type I
Hypokalemia, Intracranial hemorrhage, Adrenal hyperplasia, Abnormal circulating renin, Hypertensi... ORPHA:403
Acute Adrenal Insufficiency
Failure to thrive, Decreased circulating aldosterone level, Decreased circulating cortisol level,... ORPHA:95409
Nephronophthisis 1
Polydipsia, Renal tubular atrophy, Nephronophthisis, Polyuria, Hyposthenuria, Tubulointerstitial ... OMIM:256100
Primary Unilateral Adrenal Hyperplasia
Hypokalemia, Palpitations, Adrenal hyperplasia, Decreased circulating renin level, Epistaxis, Hyp... ORPHA:231580
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypokalemia, Abnormal T-wave, Neoplasm of the adrenal gland, Increased circulating cortisol level... ORPHA:231625
Pseudohypoaldosteronism, Type Iic
Hypertension, Pseudohypoaldosteronism, Hyperchloremia, Hyperkalemia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hypertension, Pseudohypoaldosteronism, Hyperchloremia, Hyperkalemia OMIM:614496
Liddle Syndrome 2
Decreased circulating renin level, Decreased circulating aldosterone level, Hypokalemia, Hyperten... OMIM:618114
Senior-Loken Syndrome 4
Polyuria, Polydipsia, Nephronophthisis, Stage 5 chronic kidney disease OMIM:606996
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentration, Increased circul... OMIM:241150
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypomagnesemia, Hypokalemia, Polyuria, Renal potassium wasting, Renal magnesium wasting OMIM:618314
Colchicine Poisoning
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypovolemia, Arrhythmia, Cardiogenic... ORPHA:31824
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Failure to thrive, Hypokalemia, Hyponatremia, Hyperaldosteronism, Hypochloremia, Hyperchloriduria OMIM:613090
Apparent Mineralocorticoid Excess
Polydipsia, Hypokalemia, Left ventricular hypertrophy, Abnormal urine sodium concentration, Renal... ORPHA:320
Bartter Syndrome, Type 3
Hyperactive renin-angiotensin system, Hypokalemia, Increased circulating renin level, Hypotension... OMIM:607364
Familial Hyperaldosteronism Type Iii
Polydipsia, Hypokalemia, Left ventricular hypertrophy, Intracranial hemorrhage, Epistaxis, Hyperc... ORPHA:251274
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Ovarian cyst, Abnormal response to ACTH stimulation test, I... ORPHA:90793
Bartter Syndrome, Type 1, Antenatal
Hyperactive renin-angiotensin system, Failure to thrive, Hypomagnesemia, Hypokalemia, Small for g... OMIM:601678
Addison Disease
Thymoma, Decreased circulating cortisol level, Orthostatic hypotension, Increased circulating ren... ORPHA:85138
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612925
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperactive renin-angiotensin system, Decreased circulating cortisol level, Abnormal response to ... ORPHA:90794
Cardiogenic Shock
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... ORPHA:97292
Liddle Syndrome 1
Decreased circulating renin level, Decreased circulating aldosterone level, Hypokalemia, Hyperten... OMIM:177200
Cystinosis
Renal tubular dysfunction, Polydipsia, Hypophosphatemia, Hypokalemia, Aminoaciduria, Nephropathy,... ORPHA:213
Hypercalcemia, Infantile, 1
Nephrolithiasis, Aortic valve stenosis, Pulmonic stenosis, Polyuria, Hypercalciuria, Infantile hy... OMIM:143880
Fanconi Renotubular Syndrome 1
Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Aminoaciduria, Glycosuria, Renal insuff... OMIM:134600
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612922
East Syndrome
Hypomagnesemia, Hypokalemia, Polydipsia, Abnormal urinary electrolyte concentration, Salt craving... ORPHA:199343
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612926
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... ORPHA:289548
Glycogen Storage Disease Due To Aldolase A Deficiency
Muscle fiber atrophy, Elevated creatine kinase after exercise, EMG: myopathic abnormalities, Redu... ORPHA:57
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... ORPHA:168558
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Failure to thrive, Hypokalemia, Hyponatremia, Hyperaldosteronism, Hypochloremia, Hyperchloriduria OMIM:602522
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Chronic kidney disease, Type 2 muscle fiber atrophy, Polyuria, Hyperechogenic kid... OMIM:613845
Gitelman Syndrome
Hypomagnesemia, Hypokalemia, Polydipsia, Polyuria, Hypocalciuria, Nocturia, Palpitations, Increas... OMIM:263800
Pseudohypoaldosteronism, Type Iia
Hypertension, Pseudohypoaldosteronism, Hyperkalemia OMIM:145260
Systemic Capillary Leak Syndrome
Abnormal renal tubule morphology, Arrhythmia, Myocarditis, Hypotension, Oliguria, Renal insuffici... ORPHA:188
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Congenital adrenal hyperplasia OMIM:613571
Obesity Due To Sim1 Deficiency
Obesity, Hyperinsulinemia, Hypotension, Postural hypotension with compensatory tachycardia ORPHA:369873
Bartter Syndrome Type 4
Hyperactive renin-angiotensin system, Failure to thrive, Hypomagnesemia, Hypokalemia, Severe fail... ORPHA:89938
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Nephrolithiasis, Hypokalemia, Left ventricular hypertrophy, Ventricular septal defect, Biventricu... OMIM:615474
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Decreased circulating aldosterone level, Hypokalemia, Hyperte... OMIM:202010
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Elevated systolic blood pressure, Decreased serum creatinine, ... OMIM:300539
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Elevated circulating creatine kinase concentration, Acute rhabdomyolysis, Increase... OMIM:268200
Ectopic Aldosterone-Producing Tumor
Hypokalemia, Ovarian neoplasm, Decreased circulating renin level, Epistaxis, Hypertension, Glucoc... ORPHA:231632
Juvenile Nephropathic Cystinosis
Polydipsia, Glycosuria, Elevated circulating creatinine concentration, Proteinuria, Proximal tubu... ORPHA:411634
Hemorrhagic Fever-Renal Syndrome
Melena, Decreased glomerular filtration rate, Hematuria, Hyperkalemia, Elevated circulating creat... ORPHA:340
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Nephrolithiasis, Polydipsia, Hypokalemia, Intracranial hemorrhage, Ventricular septal defect, Sec... ORPHA:369929
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Hypomagnesemia, Episodic hypokalemia, Renal potassium wasting, Nephrocalcinosis, Renal magnesium ... ORPHA:564178
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypomagnesemia, Hypokalemia, Polydipsia, Polyuria, Hypocalciuria, Salt craving, Increased circula... OMIM:612780
Renal Tubular Acidosis, Distal, 1
Nephrolithiasis, Hypokalemia, Hypocalcemia, Distal renal tubular acidosis, Elevated circulating c... OMIM:179800
Diffuse Cutaneous Systemic Sclerosis
Telangiectasia of the skin, Flexion contracture, Oliguria, Renal insufficiency, Hypertensive cris... ORPHA:220393
Hypomagnesemia 2, Renal
Hypomagnesemia, Hypokalemia, Hypocalciuria, Renal insufficiency, Renal magnesium wasting OMIM:154020
Bartter Syndrome, Type 2, Antenatal
Hyperactive renin-angiotensin system, Failure to thrive, Hypomagnesemia, Hypokalemia, Small for g... OMIM:241200
Hypomagnesemia 3, Renal
Nephrolithiasis, Renal calcium wasting, Hypomagnesemia, Chronic kidney disease, Renal tubular aci... OMIM:248250
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased circulating cortisol level, Increased body weight, Macronodular adre... OMIM:615954
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Hypokalemia, Proximal renal tubular acidosis, Impaired renal tubular reabsorption of bicarbonate,... OMIM:604278
Familial Glucocorticoid Deficiency
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub... ORPHA:361
Hyperaldosteronism, Familial, Type Ii
Hypertension, Hypokalemia OMIM:605635
Nephronophthisis 4
Polydipsia, Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal... OMIM:606966
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Glomerular deposits, Glomerulomegaly, Proteinuria, Renal insufficiency, Hyper... OMIM:601894
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Distal renal tubular acidosis, Hypokalemia, Nephrocalcinosis, Hypercalciuria OMIM:602722
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Precocious puberty, Hypokalemia, Decreased circulating cortis... ORPHA:90795
Fanconi-Bickel Syndrome
Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Elevated circulating alkaline phosphata... OMIM:227810
Helix Syndrome
Nephrolithiasis, Polydipsia, Hypokalemia, Polyuria, Hypocalciuria, Renal insufficiency, Hypermagn... OMIM:617671
Nephronophthisis 3
Polydipsia, Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal... OMIM:604387
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Nephropathy, Renal insufficiency, Proteinuria, Glomerulopathy, Lobular glomer... OMIM:137950
Microscopic Polyangiitis
Arrhythmia, Hematuria, Vasculitis, Oliguria, Renal insufficiency, Glomerulopathy, Gastrointestina... ORPHA:727
Senior-Loken Syndrome 1
Impaired renal concentrating ability, Polydipsia, Nephronophthisis, Polyuria, Tubulointerstitial ... OMIM:266900
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Failure to thrive, Precocious puberty, Congenital hypothyroidism, Hyponatremia, Cryptorchidism, H... OMIM:614736
Hyperphosphatemia, Polyuria, And Seizures
Polyuria, Hyperphosphatemia OMIM:239350
Lassa Fever
Oliguria, Shock, Dysphagia, Jaundice ORPHA:99824
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Adrenocorticotropic hormone deficiency, Precocious puberty, Decreased response to growth hormone ... ORPHA:91354
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Increased body weight, Adrenal hyperplasia, Primary hyperco... OMIM:615830
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Truncal obesity, Adrenal hyperplasia, Primary hypercortisol... OMIM:219080
Lujo Hemorrhagic Fever
Elevated circulating C-reactive protein concentration, Fulminant hepatitis, Myocarditis, Hypotens... ORPHA:319213
Hypoadrenocorticism, Familial
Adrenal insufficiency, Adrenal hypoplasia, Hyperkalemia, Hyponatremia OMIM:240200
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Hypotens... OMIM:616000
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Failure to thrive, Decreased circulating cortisol level, In... ORPHA:90790
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Nephrotic syndrome, Myocardial infarction, Glomerular subendothelial elec... ORPHA:54370
Liddle Syndrome 3
Hypertension, Hypokalemia OMIM:618126
Adrenocortical Carcinoma
Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocorticotropic h... ORPHA:1501
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Renal insufficiency, Proteinuria, Hyper... OMIM:161900
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Megacystis, Polyuria, Hypernatremia, Polydipsia OMIM:125800
Senior-Loken Syndrome 3
Polydipsia, Nephronophthisis, Polyuria, Renal corticomedullary cysts, Enuresis, Stage 5 chronic k... OMIM:606995
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polyuria, Megacystis, Hypernatremia, Polydipsia OMIM:304800
Aneurysm Of Sinus Of Valsalva
Bacterial endocarditis, Heart murmur, Oliguria, Aortic regurgitation, Congestive heart failure ORPHA:1054
Post-Traumatic Pituitary Deficiency
Abnormal prolactin level, Decreased response to growth hormone stimulation test, Hypogonadotropic... ORPHA:95619
Bronchial Neuroendocrine Tumor
Increased serum serotonin, Elevated circulating growth hormone concentration, Tricuspid regurgita... ORPHA:97287
Renal Tubular Acidosis Iii
Nephrolithiasis, Hypokalemia, Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis OMIM:267200
Neuroendocrine Tumor Of The Colon
Increased serum serotonin, Atypical pulmonary carcinoid tumor, Melena, Tricuspid regurgitation, C... ORPHA:100080
Nephronophthisis 2
Nephronophthisis, Chronic tubulointerstitial nephritis, Absence of renal corticomedullary differe... OMIM:602088
Cholera
Hypokalemia, Hypocalcemia, Abnormality of renal excretion, Hypovolemic shock, Tachycardia, Hypote... ORPHA:173
Bardet-Biedl Syndrome 17
Polydipsia, Micropenis, Polyuria, Situs inversus totalis, Dextrocardia, Renal cyst, Stage 5 chron... OMIM:615994
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Hyperparathyroidism, Neonatal Severe
Polydipsia, Hypophosphatemia, Aminoaciduria, Polyuria, Hypercalciuria, Hypercalcemia, Calcinosis,... OMIM:239200
Exercise-Induced Malignant Hyperthermia
Decreased liver function, Hypocalcemia, Abnormal pulse pressure, Abnormal T-wave, ST segment depr... ORPHA:466650
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypertension, Adrenogenital syndrome OMIM:201910
Gaisböck Syndrome
Angina pectoris, Hypovolemia, Hyperproteinemia, Increased circulating renin level, Hypertriglycer... ORPHA:90041
Proximal Renal Tubular Acidosis
Nephrolithiasis, Polydipsia, Hypokalemia, Aminoaciduria, Hyperuricosuria, Hypovolemia, Glycosuria... ORPHA:47159
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria, Elevated circulating creatine kinase concentration, Tachycardia, Hypotension, Rhab... OMIM:145600
Teratoma, Pineal
Polyuria, Polydipsia OMIM:273120
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Distal renal tubular acidosis, Nephrocalcinosis, Hypokalemia, Isothenuria OMIM:611590
Renal Hypoplasia
Chronic kidney disease, Polydipsia, Abnormal renal tubule morphology, Unilateral renal agenesis, ... ORPHA:93101
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Failure to thrive, Adrenocorticotropic hormone deficiency, Graves disease, Pi... ORPHA:199299
Acute Monoblastic/Monocytic Leukemia
Oliguria, Increased circulating lactate dehydrogenase concentration ORPHA:514
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Bicarbonate-was... ORPHA:3337
Iga Nephropathy, Susceptibility To, 2
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Hypertension, Stage 5 chroni... OMIM:613944
Romano-Ward Syndrome
Torsade de pointes, Hypokalemia, Abnormal T-wave, Sudden cardiac death, Ventricular arrhythmia, S... ORPHA:101016
Nail-Patella-Like Renal Disease
Renal insufficiency, Proteinuria, Glomerulopathy, Hypertension, Microscopic hematuria ORPHA:2613
Focal Segmental Glomerulosclerosis 2
Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Hype... OMIM:603965
Renal Tubular Dysgenesis
Anuria, Abnormality of the urinary system, Renotubular dysgenesis, Hypotension OMIM:267430
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia, Myopathy OMIM:613345
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Nephrotic range proteinuria, Hypertension, Myocarditis, Oliguria, Acute kidney inju... ORPHA:544482
Iga Nephropathy, Susceptibility To, 3
Mesangial hypercellularity, Hematuria, IgA deposition in the glomerulus, Proteinuria, Hypertensio... OMIM:616818
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Tachycardia, Arrhythmia, Hypotension, Elevated hepatic transaminase, Elevated... ORPHA:542323
Nephronophthisis 11
Polydipsia, Renal tubular atrophy, Nephronophthisis, Polyuria, Tubular basement membrane disinteg... OMIM:613550
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level, Decreased circulating al... ORPHA:3453
Neuroendocrine Tumor Of The Rectum
Increased serum serotonin, Atypical pulmonary carcinoid tumor, Melena, Tricuspid regurgitation, C... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Increased serum serotonin, Atypical pulmonary carcinoid tumor, Melena, Tricuspid regurgitation, C... ORPHA:100082
Mercury Poisoning
Hypokalemia, Tachycardia, Hypotension, Acute kidney injury, Hypertension ORPHA:330021
Sepsis In Premature Infants
Decreased liver function, Elevated circulating C-reactive protein concentration, Tachycardia, Hyp... ORPHA:90051
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal urine output, Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Pul... ORPHA:567548
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Hypertension, Adrenogenital syndrome OMIM:202110
Cystinosis, Nephropathic
Polydipsia, Glycosuria, Hematuria, Proteinuria, Skeletal muscle atrophy, Stage 5 chronic kidney d... OMIM:219800
Erythrocytosis, Familial, 2
Failure to thrive, Elevated circulating erythropoietin concentration, Cerebral hemorrhage, Hypote... OMIM:263400
Autosomal Recessive Polycystic Kidney Disease
Polydipsia, Reduced renal corticomedullary differentiation, Recurrent urinary tract infections, E... ORPHA:731
Infantile Nephropathic Cystinosis
Renal tubular dysfunction, Polydipsia, Hypophosphatemia, Hypokalemia, Aminoaciduria, Glycosuria, ... ORPHA:411629
Primary Pigmented Nodular Adrenocortical Disease
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pi... ORPHA:189439
Malignant Hyperthermia Of Anesthesia
Supraventricular tachycardia, High-output congestive heart failure, Premature ventricular contrac... ORPHA:423
Hyperkalemic Periodic Paralysis
Hypokalemia, Flexion contracture, Skeletal muscle hypertrophy, Elevated circulating creatine kina... ORPHA:682
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Hemoglobinuria, Increased circulating lactate dehydrogenase concentration, Myocardia... ORPHA:90038
Gitelman Syndrome
Polydipsia, Proteinuria, Renal potassium wasting, Prolonged QT interval, Renal tubular acidosis, ... ORPHA:358
Distal Renal Tubular Acidosis
Nephrolithiasis, Polydipsia, Hypokalemia, Aminoaciduria, Decreased glomerular filtration rate, Lo... ORPHA:18
Ochoa Syndrome
Polydipsia, Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Urethral obs... ORPHA:2704
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Failure to thrive, Decreased circulating androgen concentration, Decreased response to growth hor... ORPHA:293978
Hyperchlorhidrosis, Isolated
Failure to thrive, Hyperkalemia, Hyponatremia OMIM:143860
Neuroendocrine Tumor Of Stomach
Increased serum serotonin, Atypical pulmonary carcinoid tumor, Melena, Hematemesis, Tricuspid reg... ORPHA:100075
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia, Hyperthyroidism, Palpitations, Tachycardia, Weight loss, Goiter OMIM:188580
Snakebite Envenomation
Intracranial hemorrhage, Tachycardia, Cardiogenic shock, Hypotension, Cerebral ischemia, Myocardi... ORPHA:449285
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pi... ORPHA:189427
Scorpion Envenomation
Glycosuria, Elevated circulating aspartate aminotransferase concentration, Myocarditis, Bundle br... ORPHA:466677
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Hypokalemia, Hyperthyroidism, Tachycardia, Weight lo... OMIM:613239
Fibronectin Glomerulopathy
Nephrotic syndrome, Cerebral hemorrhage, Abnormal glomerular mesangium morphology, Renal insuffic... ORPHA:84090
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Increased blood urea nitrogen, Elevated circulating creatinine concentration, Acu... OMIM:235400
Tako-Tsubo Cardiomyopathy
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Abnormal B-type natr... ORPHA:66529
Lysosomal Acid Lipase Deficiency
Decreased liver function, Failure to thrive, Elevated circulating alkaline phosphatase concentrat... ORPHA:275761
Generalized Glucocorticoid Resistance Syndrome
Decreased circulating aldosterone level, Precocious puberty, Hypokalemia, Increased circulating c... ORPHA:786
Thyrotoxic Periodic Paralysis
Hypomagnesemia, Abnormal muscle fiber morphology, Episodic hypokalemia, Transient hypophosphatemi... ORPHA:79102
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Proteinuria, Hypertension, Microscopic hematuria, Stage 5 chr... OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Hypertension OMIM:607832
Ethylene Glycol Poisoning
Renal tubular dysfunction, Hypocalcemia, Tachycardia, Hematuria, Hypotension, Atrial fibrillation... ORPHA:31826
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Polyuria, Renal dysplasia, Hematochezia, Hypertriglyceridemia, Hypo... OMIM:618183
Non-Functioning Pituitary Adenoma
Central adrenal insufficiency, Hypogonadism, Central diabetes insipidus, Abnormality of the pitui... ORPHA:91349
Oligomeganephronia
Polydipsia, Secundum atrial septal defect, Congenital diaphragmatic hernia, Decreased glomerular ... ORPHA:2260
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia, Myopathy OMIM:170400
Pituitary Apoplexy
Adrenocorticotropic hormone deficiency, Pituitary adenoma, Elevated circulating growth hormone co... ORPHA:95613
Leprechaunism
Failure to thrive, Hyperinsulinemia, Hypokalemia, Decreased body weight, Increased circulating re... ORPHA:508
Iga Nephropathy, Susceptibility To, 1
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Hypertension, Stage 5 chroni... OMIM:161950
Neuroleptic Malignant Syndrome
Elevated circulating alkaline phosphatase concentration, Proteinuria, Hyperuricemia, Elevated cir... ORPHA:94093
Hypokalemic Periodic Paralysis
Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology, Episodic hypokalemia... ORPHA:681
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Hyperammonemia, Elevated circulating creatine kinase concentra... OMIM:212138
Ileal Neuroendocrine Tumor
Increased serum serotonin, Hepatic failure, Tricuspid stenosis, Pulmonic stenosis, Right ventricu... ORPHA:100078
Jejunal Neuroendocrine Tumor
Increased serum serotonin, Hepatic failure, Tricuspid stenosis, Pulmonic stenosis, Right ventricu... ORPHA:100077
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... OMIM:174000
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Central adrenal insufficiency, Increased circulating prolactin conce... ORPHA:91347
Chromosome 5Q12 Deletion Syndrome
Decreased body mass index, Hypotension OMIM:615668
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinuria, Hypertension, S... OMIM:603278
Pigmented Nodular Adrenocortical Disease, Primary, 1
Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased serum testo... OMIM:610489
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula... OMIM:610475
Pituitary Adenoma 4, Acth-Secreting
Nephrolithiasis, Hypertension, Hypokalemia, Skeletal muscle atrophy OMIM:219090
Relapsing Fever
Elevated circulating C-reactive protein concentration, Epistaxis, Tachycardia, Hypotension, Incre... ORPHA:91547
Nephrogenic Diabetes Insipidus
Polydipsia, Hypovolemia, Hyposthenuria, Hydroureter, Hypernatremia, Functional abnormality of the... ORPHA:223
Pseudohypoaldosteronism Type 2
Hypertension, Hyperkalemia ORPHA:757
Pearson Syndrome
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Lacticaciduria, Hepatic failure, Gly... ORPHA:699
Staphylococcal Necrotizing Pneumonia
Elevated circulating C-reactive protein concentration, Hypotension, Increased circulating procalc... ORPHA:36238
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Polyuria, Proximal tubulopathy OMIM:560000
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A
Hypotension OMIM:156310
Osteootohepatoenteric Syndrome
Hypokalemia, Grade II vesicoureteral reflux, Proteinuria, Prolonged neonatal jaundice, Increased ... OMIM:619377
Aa Amyloidosis
Adrenal insufficiency, Hypotension, Hypothyroidism ORPHA:85445
Amelogenesis Imperfecta, Type Ig
Impaired renal concentrating ability, Polyuria, Renal insufficiency, Enuresis, Nephrocalcinosis OMIM:204690
Senior-Boichis Syndrome
Renal atrophy, Chronic kidney disease, Polydipsia, Elevated circulating alkaline phosphatase conc... ORPHA:84081
Duodenal Neuroendocrine Tumor
Melena, Elevated circulating growth hormone concentration, Hematemesis, Glucagonoma, Hepatic fail... ORPHA:100076
Malignant Hyperthermia, Susceptibility To, 2
Alcohol-induced rhabdomyolysis, Elevated circulating creatine kinase concentration, Exercise-indu... OMIM:154275
Congenital Hypothyroidism
Abnormality of the thyroid gland, Prolonged neonatal jaundice, Thyroid dysgenesis, Arrhythmia, An... ORPHA:442
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia, Hyperkalemia OMIM:141000
Rabson-Mendenhall Syndrome
Polydipsia, Hypokalemia, Atrial septal defect, Macroglossia, Increased C-peptide level, Long peni... ORPHA:769
Prolactinoma
Abnormality of the pituitary gland, Adrenocorticotropic hormone deficiency, Elevated circulating ... ORPHA:2965
Whipple Disease
Cachexia, Myocarditis, Hypotension, Hypothyroidism, Myocardial infarction, Hyponatremia, Gastroin... ORPHA:3452
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Limb hypertonia, Hyperechogenic kidneys, Tubulointerstitial nephr... OMIM:617595
Adult Acute Respiratory Distress Syndrome
Diabetic ketoacidosis, Vasculitis, Shock, Hypotension ORPHA:70578
Malignant Hyperthermia, Susceptibility To, 3
Alcohol-induced rhabdomyolysis, Elevated circulating creatine kinase concentration, Exercise-indu... OMIM:154276
Duplication Of Urethra
Bladder duplication, Chordee, Dysuria, Distal urethral duplication, Epispadias, Micropenis, Hyper... ORPHA:237
Perry Syndrome
Weight loss, Hypotension ORPHA:178509
Central Diabetes Insipidus
Polydipsia, Nocturia, Hyponatremia ORPHA:178029
Nelson Syndrome
Quadriceps muscle atrophy, Hypokalemia, Intracranial hemorrhage, Lower limb muscle weakness, Hype... ORPHA:199244
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Adrenal insufficiency, Hyperaldosteronism, Adrenocorticotropic hormone excess OMIM:613743
Pde4D Haploinsufficiency Syndrome
Elevated circulating parathyroid hormone level, Obesity, Cryptorchidism, Hypotension ORPHA:439822
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:66628
Adrenal Hypoplasia, Congenital
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub... OMIM:300200
Yellow Fever
Supraventricular arrhythmia, Hyperbilirubinemia, Hematemesis, Elevated circulating creatine kinas... ORPHA:99829
Mirage Syndrome
Adrenal insufficiency, Decreased body weight, Hypergonadotropic hypogonadism, Intracranial hemorr... OMIM:617053
Denys-Drash Syndrome
Nephrotic syndrome, Nephroblastoma, Nephropathy, Proteinuria, Hypertension ORPHA:220
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Hypokalemia, Hematochezia, Hypocalcemia OMIM:175500
Cutaneous Mastocytoma
Telangiectasia macularis eruptiva perstans, Elevated total serum tryptase, Hypotension, Telangiec... ORPHA:79455
Immunodeficiency 87 And Autoimmunity
Hypokalemia, Elevated circulating C-reactive protein concentration, Atrial septal defect, Atriove... OMIM:619573
Hepatocellular Carcinoma
Type II diabetes mellitus, Hypokalemia, Hyperbilirubinemia, Budd-Chiari syndrome, Hypotension, El... ORPHA:88673
Neuroendocrine Neoplasm Of Appendix
Increased serum serotonin, Adrenocorticotropic hormone excess, Ovarian neoplasm, Tricuspid stenos... ORPHA:100079
Marburg Hemorrhagic Fever
Hypokalemia, Hyperammonemia, Hypovolemia, Elevated circulating creatine kinase concentration, Tac... ORPHA:99826
Aggressive Systemic Mastocytosis
Decreased liver function, Elevated circulating alkaline phosphatase concentration, Hypotension, G... ORPHA:98850
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:179494
Aapoaiv Amyloidosis
Cardiac amyloidosis, Hyperlipidemia, Chronic kidney disease, Abnormal renal medulla morphology, L... ORPHA:439232
Dengue Fever
Cerebral hemorrhage, Hypoproteinemia, Hypotension, Gastrointestinal hemorrhage, Epistaxis ORPHA:99828
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Increased serum testosterone level, Congenital adrenal hyperplasia ORPHA:96181
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Necrotizing Enterocolitis
Small for gestational age, Hypotension, Shock, Hyponatremia, Bradycardia ORPHA:391673
Andersen Cardiodysrhythmic Periodic Paralysis
Hypokalemia, Palpitations, Bidirectional ventricular ectopy, Syncope, Prolonged QTc interval, Pro... OMIM:170390
Congenital Enterovirus Infection
Hyperammonemia, Hepatic failure, Myocarditis, Hypotension, Hepatitis, Hypoalbuminemia, Cardiomyop... ORPHA:292
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Elevated pulmonary artery pressure, Renal cortical hyperechogenicity, Fetal megacystis, Pyeloneph... OMIM:619351
Legionnaires Disease
Arrhythmia, Myocarditis, Hypotension, Hepatitis, Hyponatremia, Pericarditis, Jaundice ORPHA:549
Vipoma
Elevated calcitonin, Neoplasm of the pancreas, Pituitary adenoma, Abnormality of the thyroid glan... ORPHA:97282
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Failure to thrive, Decreased serum testosterone concentration, Decreased circulating androgen con... ORPHA:90796
Acquired Central Diabetes Insipidus
Polydipsia, Pollakisuria ORPHA:95626
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosi... OMIM:618913
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Infant Botulism
Hypotension, Cardiac arrest, Hypertension, Hyponatremia ORPHA:178478
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Abnormal renal physiology, Hematuria, Elevated circulating creatinine con... OMIM:123550
Hydroxykynureninuria
Tachycardia, Hypotension, Abnormal circulating tryptophan concentration ORPHA:79155
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormal resp... ORPHA:95699
Non-Acquired Panhypopituitarism
Ectopic anterior pituitary gland, Abnormal prolactin level, Decreased response to growth hormone ... ORPHA:90695
Alagille Syndrome 2
Renal tubular acidosis, Atrial septal defect, Pulmonic stenosis, Hematuria, Tetralogy of Fallot, ... OMIM:610205
Meningococcal Meningitis
Shock, Elevated circulating C-reactive protein concentration, Hypotension ORPHA:33475
Nipah Virus Disease
Hypotension ORPHA:99825
Crimean-Congo Hemorrhagic Fever
Melena, Hemoperitoneum, Subdural hemorrhage, Hepatic failure, Hemothorax, Myocarditis, Jaundice, ... ORPHA:99827
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Elevated circulating creatine kinase concentration, Tachycardia, Myocarditis, Hypot... ORPHA:36234
Bardet-Biedl Syndrome 9
Polyphagia, Polydipsia, Renal insufficiency OMIM:615986
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Jaundice, Hyperkalemia OMIM:608885
Oculocerebrorenal Syndrome Of Lowe
Nephrolithiasis, Hypophosphatemia, Hypokalemia, Oligosacchariduria, Aminoaciduria, Hypoammonemia,... ORPHA:534
Alport Syndrome 3, Autosomal Dominant
Hypophosphatemia, Nephrotic syndrome, Nephritis, Azotemia, Hematuria, Thickened glomerular baseme... OMIM:104200
Corticosteroid-Binding Globulin Deficiency
Hypertension, Hypotension OMIM:611489
Inhalational Anthrax
Internal hemorrhage, Abnormal sweat gland morphology, Hypotension ORPHA:247257
Alport Syndrome 2, Autosomal Recessive
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Proteinuria, Re... OMIM:203780
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cardiac arrest, Hypotension, Bradycardia ORPHA:70587
Beta-Ketothiolase Deficiency
Hyperammonemia, Hypotension, Hyperuricemia, Hypertension, Weight loss ORPHA:134
Cocaine Intoxication
Supraventricular arrhythmia, Prolonged QRS complex, Cerebral hemorrhage, Diffuse alveolar hemorrh... ORPHA:90068
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Hypotension OMIM:618480
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... ORPHA:730
Familial Pseudohyperkalemia
Hypertension, Hyperkalemia ORPHA:90044
Cushing Disease
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, In... ORPHA:96253
3-Hydroxy-3-Methylglutaric Aciduria
Cardiac arrest, Hyperammonemia, Hypotension, Elevated hepatic transaminase, Dilated cardiomyopath... ORPHA:20
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Polydipsia, Renal agenesis, Hypospadias, Multicystic kidney dysplasia, Renal Fanconi syndrome, El... ORPHA:93111
Alexander Disease
Failure to thrive, Precocious puberty, Sudden cardiac death, Hypotension, Hypothyroidism, Diabete... ORPHA:58
Mastocytosis
Telangiectasia of the skin, Arrhythmia, Hypotension, Hypercalcemia, Gastrointestinal hemorrhage ORPHA:98292
Diffuse Cutaneous Mastocytosis
Elevated total serum tryptase, Gastrointestinal hemorrhage, Hypotension ORPHA:79456
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Decreased renal tubular phosphate excretion, Increased renal tubular phosphate reabsorption, Hype... OMIM:211900
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Hypotension, Heart murmur, Pulmonary arterial hypert... ORPHA:95459
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Mitral regurgitation, Mitral valve prolapse, Polycystic kidney dysplasia, Renal insufficiency, Hy... OMIM:173900
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hypocalcemia, Arrhythmia, Hypotension, Hyperphosphatemia, Congestive heart failure ORPHA:428
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Adrenal hyperplasia, Premature pubarche OMIM:201810
Posterior Urethral Valve
Dysuria, Unilateral renal dysplasia, Chronic kidney disease, Recurrent urinary tract infections, ... ORPHA:93110
Zollinger-Ellison Syndrome
Pituitary growth hormone cell adenoma, Elevated circulating parathyroid hormone level, Neuroendoc... ORPHA:913
Hyperparathyroidism-Jaw Tumor Syndrome
Nephrolithiasis, Polydipsia, Hypophosphatemia, Nephroblastoma, Hypercalciuria, Shortened QT inter... ORPHA:99880
Adenohypophysitis
Adrenocorticotropic hormone deficiency, Decreased serum testosterone concentration, Reduced circu... ORPHA:95512
Panhypophysitis
Adrenocorticotropic hormone deficiency, Decreased serum testosterone concentration, Reduced circu... ORPHA:95513
Acquired Von Willebrand Syndrome
Joint hemorrhage, Melena, Aortic valve stenosis, Pulmonic stenosis, Mitral regurgitation, Intracr... ORPHA:99147
Parathyroid Carcinoma
Nephrolithiasis, Polydipsia, Hypophosphatemia, Nephroblastoma, Hypercalciuria, Shortened QT inter... ORPHA:143
Renal Dysplasia
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Hyp... ORPHA:93108
Serotonin Syndrome
Hypertension, Tachycardia, Hypotension, Hepatic failure ORPHA:43116
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Polyuria, Lower limb muscle weakness, Hypertriglyceridemia, Hypercholest... OMIM:606721
Toxic Epidermal Necrolysis
Dysuria, Polydipsia, Acute hepatic failure, Sudden cardiac death, Abnormality of the urethra, Ele... ORPHA:537
Cushing Syndrome Due To Ectopic Acth Secretion
Medullary thyroid carcinoma, Neuroendocrine neoplasm, Neoplasm of the thymus, Myocardial infarcti... ORPHA:99889
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic anterior pituitary gland, Abnormal prolactin level, Decreased response to growth hormone ... ORPHA:95494
Pediatric-Onset Graves Disease
Polydipsia, Sinus tachycardia, Palpitations, Elevated hepatic transaminase, Polyphagia, Hypertens... ORPHA:525731
Zttk Syndrome
Atrial septal defect, Flexion contracture, Unilateral renal agenesis, Polyuria, Ventricular septa... OMIM:617140
Systemic Mastocytosis With Associated Hematologic Neoplasm
Tachycardia, Hypotension, Syncope, Elevated total serum tryptase, Weight loss ORPHA:98849
Andersen-Tawil Syndrome
Torsade de pointes, Abnormal T-wave, Premature ventricular contraction, Polymorphic ventricular t... ORPHA:37553
Brain-Lung-Thyroid Syndrome
Abnormal cardiac septum morphology, Atrial septal defect, Hypospadias, Abnormal eating behavior, ... ORPHA:209905
Scrub Typhus
Hypotension, Myocarditis ORPHA:83317
Fragile X-Associated Tremor/Ataxia Syndrome
Hypothyroidism, Hypertension, Hypotension ORPHA:93256
Acute Liver Failure
Adrenal insufficiency, Hyperammonemia, Intracranial hemorrhage, Hypotension, Elevated hepatic tra... ORPHA:90062
Hellp Syndrome
Cerebral hemorrhage, Hypotension, Increased circulating lactate dehydrogenase concentration, Elev... ORPHA:244242
Hennekam-Beemer Syndrome
Telangiectasia of the skin, Failure to thrive, Arrhythmia, Hypotension ORPHA:2135
Wolfram Syndrome
Dysuria, Polydipsia, Abnormality of the urinary system, Recurrent urinary tract infections, Nephr... ORPHA:3463
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypomagnesemia, Hypocalcemia, Sudden cardiac death, Hypocalcemic tetany, Dilated cardiomyopathy, ... ORPHA:73224
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia, Hematochezia OMIM:174900
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Shortened PR interval, Bradycardia, Cardiomyopathy, Congestive heart failure OMIM:261740
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Adrenal gland agenesis OMIM:611812
Erdheim-Chester Disease
Dysuria, Polydipsia, Abnormal pericardium morphology, Abnormal aortic valve morphology, Renal ins... ORPHA:35687
Hereditary Central Diabetes Insipidus
Polydipsia ORPHA:30925
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Budd-Chiari syndrome, Increased blood urea nitrogen, Hemoglobinuria, Glyc... ORPHA:447
Autosomal Recessive Hypophosphatemic Rickets
Renal phosphate wasting, Hypophosphatemic rickets, Abnormality of renal excretion, Renal hypophos... ORPHA:289176
Poliomyelitis
Hypertension, Hypotension, Hypovolemic shock ORPHA:2912
Leptospirosis
Pulmonary hemorrhage, Hyperproteinemia, Arrhythmia, Retinal hemorrhage, Hypotension, Hepatitis, E... ORPHA:509
Familial Cold Urticaria
Polydipsia ORPHA:47045
Vascular Ehlers-Danlos Syndrome
Bladder diverticulum, Telangiectasia of the skin, Hypokalemia, Cystocele, Hypospadias, Aplasia/Hy... ORPHA:286
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypotension OMIM:608643
Secondary Intestinal Lymphangiectasia
Intestinal bleeding, Reduced circulating transferrin concentration, Secondary hyperaldosteronism,... ORPHA:90363
Hydrolethalus Syndrome 1
Stillbirth, Adrenal gland dysgenesis OMIM:236680
Hereditary Angioedema Type 1
Hypotension ORPHA:100050
Septo-Optic Dysplasia Spectrum
Polydipsia, Hypoplasia of penis ORPHA:3157
Tetraamelia Syndrome 1
Adrenal gland agenesis OMIM:273395
Homozygous Familial Hypercholesterolemia
Angina pectoris, Abnormal left ventricular function, Hyperlipidemia, Increased LDL cholesterol co... ORPHA:391665
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Polydipsia, Hyperlipidemia, Elevated hepatic transaminase, Polyphagia, Hyponatremia, Enuresis ORPHA:293987
African Trypanosomiasis
Abnormality of the endocrine system, Abnormal prolactin level, Abnormality of renin-angiotensin s... ORPHA:3385
Doors Syndrome
Adrenal hyperplasia, Congenital hypothyroidism ORPHA:79500
Plague
Tachycardia, Arrhythmia, Hematemesis, Hypotension ORPHA:707
Pituitary Dermoid And Epidermoid Cysts
Polydipsia ORPHA:91351

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 Cyp11b2

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 Cyp11b2.

No publications found that use IMPC mice or data for Cyp11b2.

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MGI Allele Allele Type Produced
Cyp11b2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Cyp11b2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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