banner
Genes Phenotypes Help, News, Blog

Gene: Cyp4a10 MGI:88611

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:
cytochrome P450, family 4, subfamily a, polypeptide 10
Synonyms:
Msp-3,  D4Rp1,  Cyp4a,  RP1

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 Cyp4a10 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Cyp4a10 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Hypertension, Multiple renal ... OMIM:620056
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... OMIM:601894
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... OMIM:137950
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Hypertension, Microscopic hematuria ORPHA:2613
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... OMIM:603965
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Atrial fibrillatio... ORPHA:976
Iga Nephropathy, Susceptibility To, 3
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, Hypertension,... OMIM:616818
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... OMIM:613944
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... OMIM:161900
Focal Segmental Glomerulosclerosis 5
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypertension, Mi... OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Proteinuria, Hematuria, Focal segmental glomerulosclerosis, Hypertension OMIM:607832
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Myocardial infarction, Chronic kidney disease, Stage 5 chronic ... ORPHA:54370
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria, Hypertension ORPHA:2820
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... OMIM:161950
Hypertension, Essential
Elevated mean arterial pressure, Elevated systolic blood pressure, Elevated diastolic blood pressure OMIM:145500
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Nephrotic syndrome, Hypert... ORPHA:84090
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... OMIM:614723
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hypertension, Polycystic kidney dysplasia, Reduced renal corticom... OMIM:617610
Preeclampsia/Eclampsia 1
Hypertension, Proteinuria OMIM:189800
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612924
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
Abdominal Obesity-Metabolic Syndrome 1
Hypertension, Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension, Abdominal obesity OMIM:605572
Renal Hypoplasia, Bilateral
Hyponatremia, Failure to thrive, Proteinuria, Small for gestational age, Chronic kidney disease, ... ORPHA:97362
Denys-Drash Syndrome
Proteinuria, Nephrotic syndrome, Hypertension, Nephropathy, Nephroblastoma ORPHA:220
Liddle Syndrome
Renal insufficiency, Hypertension, Hypokalemia, Cerebral ischemia, Nephropathy, Arrhythmia ORPHA:526
Hypouricemia, Renal, 1
Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos... OMIM:220150
Coronary Artery Disease, Autosomal Dominant, 1
Hypertension, Hypercholesterolemia, Obesity, Myocardial infarction OMIM:608320
Trimethylaminuria
Hypertension, Tachycardia, Trimethylaminuria OMIM:602079
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Lessel-Kubisch Syndrome
Hypertension, Renal insufficiency, Renal hypoplasia OMIM:618681
Amyloidosis, Familial Visceral
Proteinuria, Hematuria, Nephrotic syndrome, Hypertension, Nephropathy OMIM:105200
Systemic Capillary Leak Syndrome
Renal insufficiency, Pericarditis, Myocarditis, Oliguria, Weight loss, Hypotension, Arrhythmia, A... ORPHA:188
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Focal Segmental Glomerulosclerosis 1
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:603278
Genetic Recurrent Myoglobinuria
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka... ORPHA:99845
Cryoglobulinemia, Familial Mixed
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Hy... OMIM:123550
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Cystic Hamartoma Of Lung And Kidney
Hypertension, Multicystic kidney dysplasia ORPHA:2111
Preeclampsia
Small for gestational age, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Elevat... ORPHA:275555
Renal Tubular Dysgenesis
Renotubular dysgenesis, Abnormality of the urinary system, Anuria, Hypotension OMIM:267430
Colchicine Poisoning
Hyponatremia, Renal insufficiency, Congestive heart failure, Myocarditis, Hypovolemia, Oliguria, ... ORPHA:31824
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Renal insufficiency, Proteinuria, Congestive heart failure, Hypertension, Arrhyth... ORPHA:225
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Hypertension, Polycystic kidney dysplasia, D... OMIM:618061
Nephronophthisis 18
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri... OMIM:615862
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Hypertension,... OMIM:256100
Diffuse Cutaneous Systemic Sclerosis
Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Oliguria, Pulmonary ar... ORPHA:220393
Carnitine-Acylcarnitine Translocase Deficiency
Dicarboxylic aciduria, Elevated creatine kinase after exercise, Elevated circulating acylcarnitin... ORPHA:159
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... ORPHA:329918
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hypertension, Cardiomyopathy, Hyperuricemia, Arrhythmia ORPHA:3222
Senior-Loken Syndrome
Hypertension, Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis ORPHA:3156
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:203780
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension OMIM:166990
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Sudden cardiac death, Myocardial infarction, Increased LDL cholesterol conc... OMIM:610947
Liddle Syndrome 1
Hypertension, Renal insufficiency, Hypokalemia, Decreased circulating renin level OMIM:177200
Hemorrhagic Fever-Renal Syndrome
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... ORPHA:340
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... OMIM:615703
Ochoa Syndrome
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... ORPHA:2704
Coproporphyria, Hereditary
Increased urinary porphobilinogen, Tachycardia, Hypertension, Elevated urinary delta-aminolevulin... OMIM:121300
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Elevated left ventricular end-diastolic diameter, Polyuria, Dilated cardiomyopathy,... OMIM:620152
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Hypertension, Aminoaciduria, Glyco... OMIM:618913
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2
Lacunar stroke, Hypertension, Transient ischemic attack OMIM:616779
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Hyperkalemia, Stage 5 chronic kidney disease, ... OMIM:602088
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Congestive heart failure, Oliguria, Heart murmur ORPHA:1054
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Pericarditis, Epistaxis, Conges... ORPHA:727
Hypercalcemia, Infantile, 2
Failure to thrive, Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcin... OMIM:616963
Hyperaldosteronism, Familial, Type Ii
Hypertension, Hypokalemia OMIM:605635
Pheochromocytoma/Paraganglioma Syndrome 6
Hypertension OMIM:618464
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hypertension, Renal insufficiency, Mitral regurgitation, Polycystic kidney dysplasia OMIM:173900
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... OMIM:235400
Nephroblastoma
Hematuria, Hypertension, Nephroblastoma, Weight loss ORPHA:654
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypertension, Hypospadias, Renal salt wasting OMIM:201910
Melorheostosis With Osteopoikilosis
Hypertension ORPHA:1879
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... OMIM:104200
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... ORPHA:93110
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertension, Hypertriglyceridemia, Childhood-onset truncal obesity, Obesity ORPHA:71529
Glutaric Aciduria Iii
Glutaric aciduria, Failure to thrive, Hypertension OMIM:231690
Sneddon Syndrome
Intracranial hemorrhage, Nephropathy, Hypertension ORPHA:820
Hyperaldosteronism, Familial, Type Iii
Polyuria, Hypercalciuria, Hypertension, Hypokalemia, Decreased circulating renin level OMIM:613677
Corticosteroid-Binding Globulin Deficiency
Hypertension, Hypokalemia, Hypotension, Decreased urinary potassium OMIM:611489
Pseudohypoaldosteronism, Type Iia
Hypertension, Hyperkalemia OMIM:145260
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Nephrotic syndrome, Proteinuria, Hypertension ORPHA:1192
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Proteinuria, Atrial fibrillation, Cardiac ... ORPHA:439232
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Lassa Fever
Shock, Oliguria ORPHA:99824
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis... OMIM:610205
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Congestive heart failure, Nephrocalcinosis, Hyper... OMIM:614473
Hypertension And Brachydactyly Syndrome
Hypertension OMIM:112410
Hyperaldosteronism, Familial, Type I
Hypertension, Abnormality of the urinary system, Decreased circulating renin level OMIM:103900
Sepsis In Premature Infants
Tachycardia, Small for gestational age, Elevated circulating C-reactive protein concentration, Ol... ORPHA:90051
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev... OMIM:171420
Frasier Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... ORPHA:347
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hypertension, Polycystic kidney dysplasia OMIM:600666
Multicentric Carpotarsal Osteolysis Syndrome
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Bilateral renal a... OMIM:166300
Rhabdoid Tumor
Renal neoplasm, Hypercalcemia, Weight loss, Hematuria, Hypertension, Internal hemorrhage ORPHA:69077
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Elevated circulating creatinine concentration, Capillary leak, Reduced ... ORPHA:542323
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Non-Functioning Paraganglioma
Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive heart failu... ORPHA:94080
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Myocarditis, Hyperkalemia, Oliguria, Hypertension, Hypocalcemia, Acute kidn... ORPHA:544482
Apparent Mineralocorticoid Excess
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypertension, Hypokal... ORPHA:320
Pseudohypoaldosteronism Type 2
Hypertension, Hyperkalemia ORPHA:757
Nephronophthisis-Like Nephropathy 2
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... OMIM:619468
Coenzyme Q10 Deficiency, Primary, 8
Small for gestational age, Elevated circulating creatinine concentration, Hypertension, Abnormal ... OMIM:616733
Pseudohypoaldosteronism, Type Iib
Hypertension, Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hypertension, Hyperchloremia, Hyperkalemia OMIM:614495
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein c... OMIM:613095
Lujo Hemorrhagic Fever
Shock, Renal insufficiency, Elevated circulating C-reactive protein concentration, Myocarditis, O... ORPHA:319213
Polyarteritis Nodosa
Pericarditis, Abnormality of the kidney, Elevated circulating C-reactive protein concentration, R... ORPHA:767
Acute Monoblastic/Monocytic Leukemia
Oliguria, Weight loss ORPHA:514
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia ORPHA:1345
Apparent Mineralocorticoid Excess
Small for gestational age, Hypertension, Hypokalemia, Failure to thrive, Decreased circulating re... OMIM:218030
Hypercalcemia, Infantile, 1
Failure to thrive, Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Weight loss, Nephroc... OMIM:143880
Cholera
Hyponatremia, Tachycardia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypo... ORPHA:173
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... ORPHA:730
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Proteinuria, ... ORPHA:567548
Potocki-Shaffer Syndrome
Hypertension, Micropenis, Nephroblastoma ORPHA:52022
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Sinus tachycardia, Elevated circulating creatine kinase concentration, Hyp... ORPHA:466650
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Hypertension, Decreased circulating renin level OMIM:605115
Liddle Syndrome 2
Hypertension, Hypokalemia, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypertension, Hypokalemia, Decreased circulating renin level OMIM:618126
Alport Syndrome 1, X-Linked
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ... OMIM:301050
Heme Oxygenase 1 Deficiency
Proteinuria, Epistaxis, Elevated circulating C-reactive protein concentration, Diffuse alveolar h... OMIM:614034
Oligomeganephronia
Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Abnormal ... ORPHA:2260
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Renal insufficiency, Tachycardia, Atrial fibrillation, Congestive h... ORPHA:31826
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Hypertension, Renal cor... OMIM:613159
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Hypertension, Telangiectases producing 'marbled' skin OMIM:206570
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Myocardia... OMIM:618620
Pseudohypoaldosteronism, Type Iie
Hypertension, Hyperchloremia, Hyperkalemia OMIM:614496
Bartter Syndrome, Type 3
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... OMIM:607364
Renal Glucosuria
Glycosuria, Polyuria, Enuresis nocturna OMIM:233100
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Moyamoya Disease With Early-Onset Achalasia
Raynaud phenomenon, Hypertension ORPHA:401945
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Myocardial infarction, Elevated circulating creatinine concentration, Hemog... ORPHA:90038
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Hyponatremia, Recurrent urinary tract infections, Renal insufficienc... ORPHA:731
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Hypertension, Abdominal obesity, Increased body weight OMIM:615954
Familial Cervical Artery Dissection
Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral hemorrhage, Hypertension, ... ORPHA:36382
Neuroblastoma, Susceptibility To, 1
Elevated urinary catecholamine level, Elevated urinary dopamine level, Abnormality of urine catec... OMIM:256700
Senior-Loken Syndrome 4
Stage 5 chronic kidney disease, Polyuria, Nephronophthisis OMIM:606996
Coach Syndrome 2
Hypertension, Hyperechogenic kidneys, Elevated circulating creatinine concentration OMIM:619111
Pseudo-Torch Syndrome 3
Proteinuria, Cerebral hemorrhage, Increased circulating ferritin concentration, Hypertension, Acu... OMIM:618886
Renal Agenesis
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, H... ORPHA:411709
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Increased urinary potassium, Intracranial hemorrhage, Hypertension, Hypokalemia, Palpi... ORPHA:231625
Stiff Skin Syndrome
Hypertension, Abnormal circulating lipid concentration, Nephrolithiasis ORPHA:2833
Renal Hypodysplasia/Aplasia 1
Hypertension, Bilateral renal agenesis, Proteinuria, Renal dysplasia OMIM:191830
Pseudohypoaldosteronism, Type Iic
Hypertension, Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Decreased HDL cholesterol concentration, Renal insufficiency, Decrea... ORPHA:85450
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Increased blood ... OMIM:613845
Alport Syndrome
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... ORPHA:63
Pheochromocytoma
Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev... OMIM:171300
Primary Unilateral Adrenal Hyperplasia
Epistaxis, Increased urinary potassium, Hypertension, Hypokalemia, Palpitations, Decreased circul... ORPHA:231580
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium... OMIM:618314
Mercury Poisoning
Tachycardia, Hypertension, Hypokalemia, Hypotension, Acute kidney injury ORPHA:330021
Ectopic Aldosterone-Producing Tumor
Epistaxis, Renal cortical adenoma, Hypertension, Hypokalemia, Decreased circulating renin level ORPHA:231632
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Renal insufficiency, Failure to thrive in infancy, Hyperkalemia, ... OMIM:617595
Fabry Disease
Renal insufficiency, Proteinuria, Angina pectoris, Myocardial infarction, Transient ischemic atta... OMIM:301500
Porphyria, Acute Intermittent
Tachycardia, Dysuria, Urinary incontinence, Hypertension, Urinary retention, Elevated urinary del... OMIM:176000
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Polyuria, Renal salt wasting, Enuresis, Hypertension, Hypokalemia, Hypocalciuria, Increased circu... OMIM:612780
Sporadic Pheochromocytoma/Secreting Paraganglioma
Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestiv... ORPHA:276621
Multiple Endocrine Neoplasia, Type Iia
Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated urinary epinephr... OMIM:171400
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Congestive heart failure, Abnormal left ventricular function, Hyp... OMIM:540000
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Epistaxis, Hypercalciuria, Intracranial hemorrhage, Hypertension, Hypokalemia ORPHA:251274
Lipodystrophy, Familial Partial, Type 6
Elevated circulating creatine kinase concentration, Hyperlipidemia, Hypertension, Abdominal obesi... OMIM:615980
Grange Syndrome
Aortic regurgitation, Hypertension ORPHA:79094
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Lipodystrophy, Familial Partial, Type 4
Hypertension, Hypertriglyceridemia OMIM:613877
Duplication Of Urethra
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... ORPHA:237
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Failure to thrive, Polyuria, Hypocitraturia, Renal magnesium ... OMIM:248250
Bartter Syndrome Type 4
Hyponatremia, Failure to thrive, Small for gestational age, Renal salt wasting, Increased urinary... ORPHA:89938
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Elevated systolic blood pressure, Hypo... OMIM:300539
Moyamoya Disease 6 With Or Without Achalasia
Raynaud phenomenon, Hypertension, Ischemic stroke OMIM:615750
Bardet-Biedl Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Obesity, Nephrotic syndrome, Hypertension ORPHA:110
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Pulmonary embolism, Hyperlipidemia, Chronic kidney disease, St... ORPHA:567546
Plin1-Related Familial Partial Lipodystrophy
Hypertension, Hypertriglyceridemia ORPHA:280356
Tetanus
Tachycardia, Elevated circulating creatine kinase concentration, Elevated urinary norepinephrine ... ORPHA:3299
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Cerebral hemorrhage, Stress urinary incontinence, Intracranial hemorrh... ORPHA:136
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Increased serum pyruvate, Congestive heart failure, Dilated cardiomyopathy, Hypertension, Hypertr... ORPHA:1349
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... OMIM:300971
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal... OMIM:613090
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Hypertension, Hypokalemia, Epistaxis ORPHA:403
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differentiation, Hema... OMIM:263200
Arteriosclerosis, Severe Juvenile
Hypertension, Chronic kidney disease, Myocardial infarction OMIM:208060
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Megacystis, Pyelonephritis, Bidirectional shunt, Elevated pulmonary artery pressure, Feta... OMIM:619351
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension, Failure to thrive OMIM:616069
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Obesity, Increased blood ur... ORPHA:251004
Type 1 Diabetes Mellitus
Polyuria, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Nephrolithiasis, Hypertension, Second degree atrioventricular block, Hypokalemia, Pulmonary arter... OMIM:615474
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Renal insufficiency, Membranoproliferative glomerulonephritis, Prote... ORPHA:91139
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Small for gestational age, Hematuria, Hypertension, Second degree atrioventricular block, Hypoalb... OMIM:617021
Caudal Regression Syndrome
Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Abnormality of the ure... ORPHA:3027
Igg4-Related Retroperitoneal Fibrosis
Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Elevated cir... ORPHA:49041
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... OMIM:266900
Cirrhosis, Familial
Hypertension, Pulmonary arterial hypertension, Increased level of L-fucose in urine, Increased le... OMIM:215600
Lipodystrophy, Familial Partial, Type 1
Hypertension, Hypertriglyceridemia OMIM:608600
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Truncal obe... OMIM:615812
Familial Hyperaldosteronism Type Ii
Intracranial hemorrhage, Hypertension, Hypokalemia, Epistaxis ORPHA:404
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Portal hypertension, Chronic kidney disease, Renal a... ORPHA:84081
Familial Pseudohyperkalemia
Hypertension, Hyperkalemia ORPHA:90044
Familial Partial Lipodystrophy, Köbberling Type
Hypertension ORPHA:79084
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... ORPHA:66529
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... ORPHA:31825
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... OMIM:264800
Gitelman Syndrome
Prolonged QT interval, Polyuria, Renal magnesium wasting, Hypomagnesemia, Ventricular tachycardia... OMIM:263800
Lipodystrophy, Familial Partial, Type 5
Hypertension, Hypertriglyceridemia, Increased C-peptide level OMIM:615238
Porphyria Variegata
Hyponatremia, Neurogenic bladder, Tachycardia, Abnormal circulating porphyrin concentration, Chro... ORPHA:79473
Hereditary Pheochromocytoma-Paraganglioma
Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestiv... ORPHA:29072
Takayasu Arteritis
Myocardial infarction, Vasculitis, Weight loss, Hypertension, Cerebral ischemia, Pulmonary arteri... ORPHA:3287
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Nephrolithiasis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular... ORPHA:369929
Peripartum Cardiomyopathy
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... ORPHA:563
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Hypertension, Micropenis, Tachycardia OMIM:613870
Eosinophilic Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Recurrent intrapulmonary hemorrhage, Proteinuria, Transient ... ORPHA:183
Methylcobalamin Deficiency Type Cble
Glomerulopathy, Hypomethioninemia, Hemolytic-uremic syndrome, Hyperhomocystinemia, Hypertension, ... ORPHA:2169
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Small for gestational age, Polyuria, Increased serum prostaglandin E2, Renal sa... OMIM:601678
Erythrocytosis, Familial, 1
Hypertension, Cerebral hemorrhage, Myocardial infarction OMIM:133100
Adrenocortical Carcinoma
Increased urinary cortisol level, Increased body weight, Weight loss, Hypertension, Hypokalemia, ... ORPHA:1501
Aicardi-Goutieres Syndrome 9
Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Pericarditis, Portal hypert... OMIM:619487
Acute Intermittent Porphyria
Dark urine, Hyponatremia, Renal insufficiency, Tachycardia, Dysuria, Urinary incontinence, Porphy... ORPHA:79276
Schimke Immuno-Osseous Dysplasia
Failure to thrive, Proteinuria, Small for gestational age, Transient ischemic attack, Minimal cha... ORPHA:1830
Neuroleptic Malignant Syndrome
Hyponatremia, Tachycardia, Proteinuria, Urinary incontinence, Elevated circulating creatine kinas... ORPHA:94093
Juvenile Paget Disease
Hypertension, Hyperuricemia ORPHA:2801
Morgagni-Stewart-Morel Syndrome
Hypertension, Hypercholesterolemia, Obesity, Hyperuricemia ORPHA:77296
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... OMIM:602522
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis OMIM:606995
Sneddon Syndrome
Hypertension, Ischemic stroke, Cerebral hemorrhage OMIM:182410
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... OMIM:194080
Coach Syndrome 1
Unilateral renal agenesis, Portal hypertension, Multiple small medullary renal cysts, Stage 5 chr... OMIM:216360
X-Linked Hypohidrotic Ectodermal Dysplasia
Hypertension ORPHA:181
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Tachycardia, Elevated circulating creatinine concentration, Hypertension... OMIM:223900
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Proteinuria, Raynaud phenomenon, Punctate vasculitis skin lesions, E... ORPHA:247691
Glycogen Storage Disease Ia
Proteinuria, Hyperlipidemia, Nephrolithiasis, Focal segmental glomerulosclerosis, Hypertension, H... OMIM:232200
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Congestive heart failure, Dilated cardiomyopathy, Hypertension, Renal arte... OMIM:208000
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... ORPHA:90065
Pituitary Adenoma 4, Acth-Secreting
Nephrolithiasis, Obesity, Hypertension, Abdominal obesity, Hypokalemia OMIM:219090
Yellow Fever
Shock, Renal insufficiency, Anuria, Elevated circulating creatine kinase concentration, Supravent... ORPHA:99829
Schimke Immunoosseous Dysplasia
Renal insufficiency, Proteinuria, Small for gestational age, Transient ischemic attack, Stage 5 c... OMIM:242900
Systemic Lupus Erythematosus 17
Raynaud phenomenon, Mitral regurgitation, Hypertensive crisis OMIM:301080
Riboflavin Transporter Deficiency
Hypertension, Cachexia ORPHA:97229
Alstrom Syndrome
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Congestive he... OMIM:203800
Ganglioneuroma
Gastrointestinal hemorrhage, Hypertension ORPHA:251992
Primary Progressive Freezing Gait
Hypertension, Urinary incontinence ORPHA:75567
Glycogen Storage Disease Ic
Renal insufficiency, Proteinuria, Spider hemangioma, Hyperlipidemia, Hematuria, Focal segmental g... OMIM:232240
Postorgasmic Illness Syndrome
Hypertension, Palpitations ORPHA:279947
Gaisböck Syndrome
Hypertriglyceridemia, Angina pectoris, Myocardial infarction, Overweight, Hypovolemia, Obesity, E... ORPHA:90041
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Renal hypoplasia, Nephrocalcinosis, Hypertension, Aminoaciduria, Hypoka... OMIM:617913
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Hypertension, Dilated cardiomyopathy, Ischemic stroke, Cerebral hemorrhage ORPHA:280679
Infant Botulism
Hyponatremia, Hypertension, Cardiac arrest, Hypotension ORPHA:178478
Sickle Cell Disease
Hematuria, Hypertension, Renal insufficiency OMIM:603903
Central Hypoventilation Syndrome, Congenital, 3
Episodic hypertension OMIM:619483
Familial Cerebral Saccular Aneurysm
Intracranial hemorrhage, Hypertension, Transient ischemic attack, Subarachnoid hemorrhage ORPHA:231160
Lipodystrophy, Familial Partial, Type 3
Hypertension, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia OMIM:604367
Xfe Progeroid Syndrome
Renal insufficiency, Proteinuria, Cachexia, Hypertension, Hypoalbuminemia, Failure to thrive OMIM:610965
Familial Dysautonomia
Hyponatremia, Glomerulopathy, Renal insufficiency, Orthostatic hypotension, Tachycardia, Abnormal... ORPHA:1764
Paroxysmal Nocturnal Hemoglobinuria
Hemosiderinuria, Renal insufficiency, Proteinuria, Myocardial infarction, Pulmonary embolism, Dec... ORPHA:447
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Hypertension OMIM:202110
Wagro Syndrome
Hypertension, Nephroblastoma, Proteinuria, Obesity OMIM:612469
Serotonin Syndrome
Hypertension, Tachycardia, Acute kidney injury, Hypotension ORPHA:43116
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertension, Hypertriglyceridemia ORPHA:363400
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia, Failure to thrive, Megacystis, Polyuria OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia, Failure to thrive, Megacystis, Polyuria OMIM:304800
Amelogenesis Imperfecta, Type Ig
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis OMIM:204690
Glycogen Storage Disease Ib
Proteinuria, Hyperlipidemia, Nephrolithiasis, Focal segmental glomerulosclerosis, Hypertension, H... OMIM:232220
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Truncal obesity, Hypertension OMIM:610489
Overlap Myositis
Abnormality of the kidney, Elevated circulating creatine kinase concentration, Raynaud phenomenon... ORPHA:206572
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Proteinuria, Glomerulonephritis, Prolonged QRS complex, Myoca... ORPHA:90068
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:613550
Pheochromocytoma/Paraganglioma Syndrome 4
Tachycardia, Elevated urinary catecholamine level, Renal cell carcinoma, Palpitations, Hypertensi... OMIM:115310
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Small for gestational age, Polyuria, Increased serum prostaglandin E2, Renal sa... OMIM:241200
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... OMIM:617729
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Small for gestational age, Hypospadias, Hyperammonemia, Hypertension, 3-Methylglutaconic aciduria... OMIM:614052
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Nephropathy, Glomerulop... ORPHA:324
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hyperphosphaturia, Polyuria, Hypercalcemia, Hypercalciuria, Aminoaciduria, Hypophosph... OMIM:239200
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Proteinuria, Abnormal cardiovascular system physiology, Cardiomyopathy, Hyp... ORPHA:79086
Alagille Syndrome
Telangiectasia of the skin, Renal hypoplasia/aplasia, Abnormality of the ureter, Nephrotic syndro... ORPHA:52
Beta-Ketothiolase Deficiency
Ketonuria, Hyperammonemia, Weight loss, Hypertension, Hyperuricemia, Hypotension ORPHA:134
Arima Syndrome
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Renal corticomedu... OMIM:243910
Helix Syndrome
Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia, Hypocalciuria OMIM:617671
Lead Poisoning
Decreased HDL cholesterol concentration, Small for gestational age, Chronic kidney disease, Renal... ORPHA:330015
Polycythemia Vera
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,... ORPHA:729
Pituitary Adenoma 1, Multiple Types
Hypertension, Cardiomyopathy OMIM:102200
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Hypertension, Renal hypoplasia, Absence of renal corticomedullary differentiation OMIM:619758
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Hyperlipidemia, Increased body weight, Nephrolithiasis, Hyperte... ORPHA:189427
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Renal salt wasting, Long penis, Intracranial hemorrhage, Hypertension, Hypokalemia, Increased uri... ORPHA:90795
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Failure to thrive, Proximal tubulopathy, Polyuria OMIM:560000
Teratoma, Pineal
Polyuria OMIM:273120
Isolated Ectopia Lentis
Hypertension ORPHA:1885
Paroxysmal Hemicrania
Hypertension ORPHA:157835
Seckel Syndrome 10
Hypertriglyceridemia, Elevated hemoglobin A1c, Congestive heart failure, Hypertension, Glycosuria OMIM:617253
Scorpion Envenomation
Bundle branch block, Tachycardia, Ketonuria, Increased circulating NT-proBNP concentration, Cardi... ORPHA:466677
Glucocorticoid Resistance, Generalized
Hypertension OMIM:615962
Spondyloenchondrodysplasia
Proteinuria, Raynaud phenomenon, Vasculitis, Chronic kidney disease, Hematuria, Hypertension ORPHA:1855
Bardet-Biedl Syndrome 17
Polyuria, Stage 5 chronic kidney disease, Renal cyst, Obesity, Micropenis OMIM:615994
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Congestive heart failure, Hypertension, Hyperuricemia, Hypertrophic cardiom... ORPHA:79083
Scalp-Ear-Nipple Syndrome
Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit... ORPHA:2036
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria,... ORPHA:900
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:605373
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R... ORPHA:758
Pigmented Nodular Adrenocortical Disease, Primary, 4
Hypertension, Increased body weight OMIM:615830
Cutis Marmorata Telangiectatica Congenita
Hypertension, Telangiectasia OMIM:219250
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Small for gestational age, Pulmonary arterial hypertension OMIM:613320
Extracranial Carotid Artery Aneurysm
Subarachnoid hemorrhage, Vasculitis, Hypertension, Cerebral ischemia, Arteritis ORPHA:494424
Fragile X-Associated Tremor/Ataxia Syndrome
Pollakisuria, Urinary bladder sphincter dysfunction, Hypertension, Hypotension ORPHA:93256
Joubert Syndrome 14
Intracranial hemorrhage, Hypertension, Renal cyst OMIM:614424
Gaucher Disease, Type I
Epistaxis, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, Aortic valve sten... OMIM:230800
Low Phospholipid-Associated Cholelithiasis
Overweight, Hypertension, Hypercholesterolemia, Obesity ORPHA:69663
Pierson Syndrome
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Retinal hemorrhage, Nep... OMIM:609049
Stiff-Person Syndrome
Hypertension, Tachycardia OMIM:184850
Postinfectious Vasculitis
Cerebral vasculitis, Abnormal circulating protein concentration, Membranoproliferative glomerulon... ORPHA:48435
Von Hippel-Lindau Disease
Elevated urinary catecholamine level, Myocardial infarction, Myocarditis, Abnormal left ventricul... ORPHA:892
Cystinosis, Nephropathic
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets... OMIM:219800
Pediatric-Onset Graves Disease
Atrial fibrillation, Congestive heart failure, Hypertension, Palpitations, Failure to thrive, Sin... ORPHA:525731
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Congestive heart failure, Papillary renal cell carcinoma, Hypertension, Int... ORPHA:363618
Monosomy 18P
Hypertension ORPHA:1598
Alkaptonuria
Hypertension, Aminoaciduria, Nephrolithiasis, Myocardial infarction ORPHA:56
Werner Syndrome
Renal neoplasm, Telangiectasia of the skin, Myocardial infarction, Congestive heart failure, Hype... ORPHA:902
Cockayne Syndrome Type 1
Renal insufficiency, Proteinuria, Hypertension, Increased blood urea nitrogen, Failure to thrive ORPHA:90321
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Polyuria, Hematochezia, Hypoalbuminemia, Hypocalcemia, Hypoma... OMIM:618183
Systemic Lupus Erythematosus
Proteinuria, Lupus nephritis, Pyuria, Raynaud phenomenon, Hematuria, Hypertension ORPHA:536
Acth-Independent Macronodular Adrenal Hyperplasia
Truncal obesity, Hypertension OMIM:219080
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Hypertension OMIM:617763
Pigmented Nodular Adrenocortical Disease, Primary, 2
Truncal obesity, Hypertension OMIM:610475
Acute Interstitial Pneumonia
Hypertension, Elevated circulating creatinine concentration, Elevated circulating C-reactive prot... ORPHA:79126
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypospadias, Hypertension, Hypokalemia, Micropenis, Failure to thrive, Increased urinary 11-deoxy... ORPHA:90793
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypertension, Hypokalemia, Long penis, Decreased circulating renin level OMIM:202010
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypertension, Dilated cardiomyopathy, Cerebral hemorrhage OMIM:300845
Von Hippel-Lindau Syndrome
Hypertension, Renal cell carcinoma, Multiple renal cysts OMIM:193300
Pheochromocytoma/Paraganglioma Syndrome 1
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:168000
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Proteinuria, Epistaxis, Hyperlipidemia, Nephrolithiasis, Stage 5 chronic ki... ORPHA:79259
Nelson Syndrome
Increased urinary cortisol level, Hypertension, Hypokalemia, Intracranial hemorrhage ORPHA:199244
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Hypertension, Hypokalemia ORPHA:786
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... OMIM:211900
Autosomal Dominant Dopa-Responsive Dystonia
Hypertension, Transient hyperphenylalaninemia ORPHA:98808
Aortic Arch Interruption
Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substantially higher in arms... ORPHA:2299
Multiple Endocrine Neoplasia Type 2
Elevated urinary catecholamine level, Hypercalcemia, Elevated urinary norepinephrine level, Hyper... ORPHA:653
Carey-Fineman-Ziter Syndrome
Hydronephrosis, Glandular hypospadias, Hypertensive crisis ORPHA:1358
Tuberous Sclerosis Complex
Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di... ORPHA:805
Pituitary Apoplexy
Hyponatremia, Hypertension, Hypotension ORPHA:95613
Hurler Syndrome
Cardiomyopathy, Mucopolysacchariduria, Hypertension, Angina pectoris ORPHA:93473
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula... ORPHA:99827
Pseudohypoparathyroidism Type 1A
Prolonged QT interval, Calcinosis, Obesity, Hypertension, Hyperphosphatemia, Hypocalcemia, Low ur... ORPHA:79443
Livedoid Vasculopathy
Telangiectasia of the skin, Hyperhomocystinemia, Hypertension, Ischemic stroke, Abnormal circulat... ORPHA:542643
Au-Kline Syndrome
Chronic kidney disease, Dilatation of the renal pelvis, Hypertension, Vesicoureteral reflux, Fail... OMIM:616580
Bardet-Biedl Syndrome 1
Abnormality of the kidney, Obesity, Truncal obesity, Abdominal obesity, Hypertension, Micropenis OMIM:209900
Acute Transverse Myelitis
Orthostatic hypotension, Decreased circulating copper concentration, Urinary incontinence, Subara... ORPHA:139417
Aicardi-Goutieres Syndrome 7
Hematemesis, Increased circulating ferritin concentration, Vasculitis, Weight loss, Hematochezia,... OMIM:615846
Homozygous Familial Hypercholesterolemia
Angina pectoris, Sudden cardiac death, Myocardial infarction, Hyperlipidemia, Renal steatosis, He... ORPHA:391665
Hardikar Syndrome
Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Hydroureter, ... OMIM:301068
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Hypertension, Atrioventricular block ORPHA:371428
Carney Triad
Gastrointestinal hemorrhage, Hypertension, Tachycardia, Arrhythmia ORPHA:139411
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Hypertension, Shortened PR interval, Obesity OMIM:614947
Scalp-Ear-Nipple Syndrome
Renal insufficiency, Unilateral renal agenesis, Congestive heart failure, Renal hypoplasia, Pyelo... OMIM:181270
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hypertension ORPHA:449291
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Renal artery aneurysm, Portal hypertension, Elevated circulating C-reactive protein concentration... OMIM:615688
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Failure to thrive, Stage 5 chronic kidney disease, Renal cyst, Hypertension... OMIM:266920
Poliomyelitis
Hypertension, Hypovolemic shock, Hypotension ORPHA:2912
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Myoc... ORPHA:3342
Nestor-Guillermo Progeria Syndrome
Right bundle branch block, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, F... OMIM:614008
Beare-Stevenson Cutis Gyrata Syndrome
Hypertension, Hypospadias OMIM:123790
Cockayne Syndrome B
Renal insufficiency, Proteinuria, Small for gestational age, Hypertension, Arrhythmia, Severe fai... OMIM:133540
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia OMIM:614653
Arterial Tortuosity Syndrome
Aortic regurgitation, Hypertension, Ischemic stroke, Aortic valve stenosis, Telangiectases of the... OMIM:208050
Aorta Coarctation
Congestive heart failure, Hypertension, Pulmonary arterial hypertension ORPHA:1457
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Transient ischemic attack, Subarachnoid hemorrhage, Hypovolemia, Abnormal l... ORPHA:91387
Orofaciodigital Syndrome Type 1
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hypertension, Hydronephrosis ORPHA:2750
Xq21 Microdeletion Syndrome
Hypertension, Renal artery stenosis, Obesity ORPHA:1435
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hypertension ORPHA:1555
Lipodystrophy, Familial Partial, Type 2
Hypertension, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:151660
Blau Syndrome
Clear cell renal cell carcinoma, Pericarditis, Stage 5 chronic kidney disease, Large vessel vascu... ORPHA:90340
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Hypertriglyceridemia, Small for gestational age, Polyuria, Hypercholeste... OMIM:606721
Familial Bicuspid Aortic Valve
Aortic regurgitation, Hypertension, Aortic valve stenosis, Heart murmur ORPHA:402075
Myhre Syndrome
Abnormal penis morphology, Epispadias, Hypospadias, Hypertension ORPHA:2588
Multisystemic Smooth Muscle Dysfunction Syndrome
Hypertension, Pulmonary arterial hypertension OMIM:613834
Cockayne Syndrome A
Renal insufficiency, Proteinuria, Hypertension, Arrhythmia, Micropenis, Failure to thrive OMIM:216400
Alexander Disease
Hypotension, Hypertension, Failure to thrive, Sudden cardiac death ORPHA:58
Cockayne Syndrome
Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen... ORPHA:191
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hypertension OMIM:616914
Hunter-Macdonald Syndrome
Aortic regurgitation, Hypertension, Mitral regurgitation, Hypospadias OMIM:611962
Familial Osteodysplasia, Anderson Type
Hypertension, Hyperuricemia ORPHA:2769
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Congestive heart failure, Weight loss, Hypertension, Hypokalemia, Pa... ORPHA:91347
Immunodeficiency 87 And Autoimmunity
Hypertriglyceridemia, Small for gestational age, Elevated circulating C-reactive protein concentr... OMIM:619573
Classic Homocystinuria
Gastrointestinal hemorrhage, Pulmonary embolism, Intracranial hemorrhage, Hypertension, Cerebral ... ORPHA:394
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Fingerpad telangiectas... OMIM:600376
Smith-Lemli-Opitz Syndrome
Ureteropelvic junction obstruction, Duplicated collecting system, Hypospadias, Renal agenesis, Un... OMIM:270400
Cushing Disease
Increased urinary cortisol level, Myocardial infarction, Increased body weight, Truncal obesity, ... ORPHA:96253
Williams-Beuren Syndrome
Nephrocalcinosis, Vesicoureteral reflux, Micropenis, Pelvic kidney, Portal hypertension, Renal hy... OMIM:194050
Orofaciodigital Syndrome I
Hypertension, Proteinuria, Polycystic kidney dysplasia OMIM:311200
Apert Syndrome
Hypertension ORPHA:87
Hallermann-Streiff Syndrome
Hypertension, Small for gestational age, Pulmonary arterial hypertension, Telangiectasia OMIM:234100
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypospadias, Unilateral renal agenesis, Dilatation of the renal pelvis, Hypertension, Abnormality... ORPHA:95699
Williams Syndrome
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Myocardial infarction, A... ORPHA:904
Mucopolysaccharidosis Type 2, Severe Form
Heparan sulfate excretion in urine, Heart murmur, Dermatan sulfate excretion in urine, Cardiomyop... ORPHA:217085
Prader-Willi Syndrome
Hypertension, Abdominal obesity, Failure to thrive ORPHA:739
Cranioectodermal Dysplasia 2
Hypertension, Renal insufficiency, Hyperbilirubinemia, Renal cyst OMIM:613610
Mucopolysaccharidosis Type 2, Attenuated Form
Heparan sulfate excretion in urine, Heart murmur, Dermatan sulfate excretion in urine, Cardiomyop... ORPHA:217093
Acromegaly
Dysuria, Wide penis, Long penis, Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy ORPHA:963
Congenital Disorder Of Glycosylation, Type Iim
Ureteropelvic junction obstruction, Hypertension, Vesicovaginal fistula, Neonatal hyperbilirubinemia OMIM:300896
Neurofibromatosis, Type I
Hypertension, Renal artery stenosis OMIM:162200
Multiple Endocrine Neoplasia Type 1
Hypercalcemia, Hematemesis, Shortened QT interval, Hypercalciuria, Nephrolithiasis, Weight loss, ... ORPHA:652
Marshall-Smith Syndrome
Premature ventricular contraction, Hypertension, Decreased body weight, Pulmonary arterial hypert... OMIM:602535
Blau Syndrome
Hypertension, Pericarditis OMIM:186580
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Ketonuria, Small for gestational age, Hypospadias, Hyperammonemia, Hypertension, Mitral regurgita... OMIM:220111
Generalized Arterial Calcification Of Infancy
Hyperphosphaturia, Failure to thrive in infancy, Transient ischemic attack, Left ventricular syst... ORPHA:51608
Somatomammotropinoma
Hypertension, Mitral regurgitation, Dysuria, Hypertrophic cardiomyopathy ORPHA:314769
Atypical Werner Syndrome
Renal neoplasm, Hypertriglyceridemia, Telangiectasia of the skin, Congestive heart failure, Glyco... ORPHA:79474
Yunis-Varon Syndrome
Hypospadias, Renovascular hypertension, Hypertension, Cardiomyopathy, Renal artery stenosis, Seve... ORPHA:3472
Autosomal Recessive Hypophosphatemic Rickets
Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Hypocalcemic tetany, R... ORPHA:289176
Zttk Syndrome
Aortic regurgitation, Polyuria, Unilateral renal agenesis, Horseshoe kidney, Failure to thrive OMIM:617140
Hutchinson-Gilford Progeria Syndrome
Aortic regurgitation, Mitral stenosis, Angina pectoris, Left ventricular systolic dysfunction, My... ORPHA:740
Turner Syndrome Due To Structural X Chromosome Anomalies
Prolonged QT interval, Failure to thrive in infancy, High urinary gonadotropin level, Renal hypop... ORPHA:99413
Turner Syndrome
Prolonged QT interval, Failure to thrive in infancy, High urinary gonadotropin level, Renal hypop... ORPHA:881
Mosaic Monosomy X
Prolonged QT interval, Failure to thrive in infancy, High urinary gonadotropin level, Renal hypop... ORPHA:99228
Monosomy X
Prolonged QT interval, Failure to thrive in infancy, High urinary gonadotropin level, Renal hypop... ORPHA:99226
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Hypospadias, Renal hypoplasia, Obesity, Multiple renal cysts, Hypoca... ORPHA:567
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Renal hypoplasia, Renal cyst, Hypertension, Polycystic kidney dysplasia, Hyperbilirubinemia, Micr... OMIM:210710
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Hypospadias, Small for gestational age, Hyperkalemia, Horseshoe kidney, Micropenis,... OMIM:201750
Myhre Syndrome
Hypertension, Aortic valve stenosis, Small for gestational age, Obesity OMIM:139210
Neurofibromatosis Type 1
Hypertension, Abnormality of the upper urinary tract ORPHA:636
Adams-Oliver Syndrome 1
Hypertension, Aortic valve stenosis, Pulmonary arterial hypertension, Pulmonic stenosis OMIM:100300
17Q11 Microdeletion Syndrome
Telangiectasia of the skin, Renovascular hypertension, Hypertension, Renal artery stenosis, Pulmo... ORPHA:97685
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Multicystic kidney dysplasia, Renal agenesis, Hypospadias, Unilateral renal agenesis, Hypertensio... OMIM:308205
Mucopolysaccharidosis Type 2
Cardiomyopathy, Arrhythmia, Hypertension ORPHA:580
Cushing Syndrome Due To Ectopic Acth Secretion
Increased urinary cortisol level, Myocardial infarction, Increased body weight, Weight loss, Trun... ORPHA:99889
Keutel Syndrome
Hypertension, Pulmonic stenosis OMIM:245150
Alström Syndrome
Urinary incontinence, Functional abnormality of the bladder, Micropenis, Portal hypertension, Dil... ORPHA:64
Vascular Ehlers-Danlos Syndrome
Hypospadias, Telangiectasia of the skin, Transient ischemic attack, Cystocele, Renovascular hyper... ORPHA:286
Carney Complex
Hypertension, Abdominal obesity, Increased body weight, Congestive heart failure ORPHA:1359

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 Cyp4a10

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 Cyp4a10.

No publications found that use IMPC mice or data for Cyp4a10.

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
Cyp4a10tm1(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