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Gene: Cyp4a10 MGI:88611

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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 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
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... OMIM:620056
Glomerulopathy With Fibronectin Deposits 2
Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis... OMIM:601894
Glomerulopathy With Fibronectin Deposits 1
Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency... OMIM:137950
Nail-Patella-Like Renal Disease
Renal insufficiency, Proteinuria, Glomerulopathy, Microscopic hematuria, Hypertension ORPHA:2613
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote... OMIM:603965
Adenine Phosphoribosyltransferase Deficiency
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... ORPHA:976
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro... OMIM:616818
Iga Nephropathy, Susceptibility To, 2
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematur... OMIM:613944
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i... OMIM:161900
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hypertension, Mi... OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Hematuria, Hypertension OMIM:607832
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria, Hypertension ORPHA:2820
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Hypoalbuminemia, Acute kidney injury, Stage 5 chronic kidney disease, Ren... ORPHA:54370
Iga Nephropathy, Susceptibility To, 1
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematur... OMIM:161950
Hypertension, Essential
Elevated mean arterial pressure, Elevated systolic blood pressure, Elevated diastolic blood pressure OMIM:145500
Fibronectin Glomerulopathy
Hypoalbuminemia, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Hype... ORPHA:84090
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Elevated circulating creatinine concentration, Urolithiasis, Renal insufficiency, 2,8-d... OMIM:614723
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduced renal corticomedullary differenti... OMIM:617610
Preeclampsia/Eclampsia 1
Proteinuria, Hypertension OMIM:189800
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Stage 5 chronic kidne... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... 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
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Failure... ORPHA:97362
Denys-Drash Syndrome
Nephropathy, Nephroblastoma, Proteinuria, Nephrotic syndrome, Hypertension ORPHA:220
Liddle Syndrome
Nephropathy, Cerebral ischemia, Renal insufficiency, Hypokalemia, Arrhythmia, Hypertension ORPHA:526
Hypouricemia, Renal, 1
Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati... OMIM:220150
Trimethylaminuria
Tachycardia, Trimethylaminuria, Hypertension OMIM:602079
Coronary Artery Disease, Autosomal Dominant, 1
Hypertension, Obesity, Hypercholesterolemia, Myocardial infarction OMIM:608320
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Abnormal glomerular mesangium morphology, Elevated circulating creatinine co... ORPHA:567544
Systemic Capillary Leak Syndrome
Hypotension, Oliguria, Renal insufficiency, Arrhythmia, Weight loss, Abnormal renal tubule morpho... ORPHA:188
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Amyloidosis, Hereditary Systemic 2
Nephropathy, Renal amyloidosis, Proteinuria, Hematuria, Nephrotic syndrome, Hypertension OMIM:105200
Lessel-Kubisch Syndrome
Hypertension, Renal hypoplasia, Renal insufficiency OMIM:618681
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Elevated circulating creatinine concentration, Proteinuria, Hematuria, Hy... OMIM:123550
Cardiomyopathy, Familial Hypertrophic, 30, Atrial
Atrial flutter, Reduced left ventricular ejection fraction, Increased circulating brain natriuret... OMIM:620734
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hypoalbuminemia, Hyperechogenic kidneys, Stage 5 chronic kidn... OMIM:603278
Genetic Recurrent Myoglobinuria
Acute kidney injury, Oliguria, Hyperphosphatemia, Exercise-induced myoglobinuria, Dark urine, Ren... ORPHA:99845
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia, Hypertension ORPHA:2111
Renal Tubular Dysgenesis
Hypotension, Abnormality of the urinary system, Renotubular dysgenesis, Anuria OMIM:267430
Colchicine Poisoning
Hypotension, Oliguria, Cardiogenic shock, Hypomagnesemia, Congestive heart failure, Renal insuffi... ORPHA:31824
Cardiogenic Shock
Hypotension, Oliguria, Right ventricular failure, Abnormal left ventricular function, Congestive ... ORPHA:97292
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Polycy... OMIM:618061
Nephronophthisis 18
Thickened glomerular basement membrane, Nephronophthisis, Stage 5 chronic kidney disease, Hyperte... OMIM:615862
Nephronophthisis 1
Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal... OMIM:256100
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Diffuse Cutaneous Systemic Sclerosis
Hypertensive crisis, Oliguria, Congestive heart failure, Renal insufficiency, Pulmonary arterial ... ORPHA:220393
C3 Glomerulopathy
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Elevated... ORPHA:329918
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Hypotension, Oliguria, Decreased circulating ca... ORPHA:159
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Renal insufficiency, Hyperuricemia, Arrhythmia, Hypertension ORPHA:3222
Alport Syndrome 2, Autosomal Recessive
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag... OMIM:203780
Senior-Loken Syndrome
Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis, Hypertension ORPHA:3156
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension OMIM:166990
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Hypertension, Hypertriglyceridemia, Sudden cardiac death... OMIM:610947
Liddle Syndrome 1
Hypokalemia, Hypertension, Renal insufficiency, Decreased circulating renin level OMIM:177200
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Hyperphosphatemia, Decreased body weight, Hematuria, Glomerulonephritis, ... ORPHA:340
Ochoa Syndrome
Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficie... ORPHA:2704
Coproporphyria, Hereditary
Elevated urinary coproporphyrin level, Increased urinary porphobilinogen, Elevated urinary delta-... OMIM:121300
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Congestive heart failure, Obesity, Increased LDL cholest... OMIM:615703
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Heart murmur, Oliguria, Congestive heart failure ORPHA:1054
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemic rickets, Proteinuria,... OMIM:618913
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Nephrocalcinosis, Dilated cardiomyopathy, Hypomagnesemia, Reduced left ventricular ejection fract... OMIM:620152
Preeclampsia
Chronic kidney disease, Elevated systolic blood pressure, Acute kidney injury, Elevated diastolic... ORPHA:275555
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2
Lacunar stroke, Transient ischemic attack, Hypertension OMIM:616779
Microscopic Polyangiitis
Vasculitis, Gastrointestinal hemorrhage, Oliguria, Epistaxis, Congestive heart failure, Renal ins... ORPHA:727
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Nephrocalcinosis, Failure to thrive, Medullary nephrocalcinosis, Hyperca... OMIM:616963
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, H... OMIM:174000
Hyperaldosteronism, Familial, Type Ii
Hypokalemia, Hypertension OMIM:605635
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ... OMIM:602088
Pheochromocytoma/Paraganglioma Syndrome 6
Hypertension OMIM:618464
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hypertension, Polycystic kidney dysplasia, Renal insufficiency, Mitral regurgitation OMIM:173900
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hyperlipidemia, Incre... OMIM:235400
Alport Syndrome 3A, Autosomal Dominant
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph... OMIM:104200
Nephroblastoma
Hematuria, Weight loss, Hypertension, Nephroblastoma ORPHA:654
Melorheostosis With Osteopoikilosis
Hypertension ORPHA:1879
Corticosteroid-Binding Globulin Deficiency
Hypotension, Hypokalemia, Decreased urinary potassium, Hypertension, Reduced circulating cortisol... OMIM:611489
Posterior Urethral Valve
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... ORPHA:93110
Glutaric Aciduria Iii
Glutaric aciduria, Hypertension, Failure to thrive OMIM:231690
Sneddon Syndrome
Nephropathy, Intracranial hemorrhage, Hypertension ORPHA:820
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertension, Obesity, Childhood-onset truncal obesity, Hypertriglyceridemia ORPHA:71529
Aapoaiv Amyloidosis
Chronic kidney disease, Atrial fibrillation, Renal amyloidosis, Atrial flutter, Hypertrophic card... ORPHA:439232
Hyperaldosteronism, Familial, Type Iii
Decreased circulating renin level, Hypokalemia, Hypercalciuria, Polyuria, Hypertension OMIM:613677
Lassa Fever
Shock, Oliguria ORPHA:99824
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Nephrotic syndrome, Hypertension, Proteinuria ORPHA:1192
Pseudohypoaldosteronism, Type Iia
Hyperkalemia, Hypertension OMIM:145260
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Alagille Syndrome 2
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Proteinuria, Renal cyst, Hematuria... OMIM:610205
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart... ORPHA:3193
Arterial Calcification, Generalized, Of Infancy, 2
Nephrocalcinosis, Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regur... OMIM:614473
Hypertension And Brachydactyly Syndrome
Hypertension OMIM:112410
Pheochromocytoma--Islet Cell Tumor Syndrome
Elevated urinary norepinephrine level, Congestive heart failure, Positive regitine blocking test,... OMIM:171420
Hyperaldosteronism, Familial, Type I
Abnormality of the urinary system, Hypertension, Decreased circulating renin level OMIM:103900
Sepsis In Premature Infants
Hypotension, Oliguria, Reversible renal failure, Decreased body weight, Bradycardia, Elevated cir... ORPHA:90051
Frasier Syndrome
Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Proteinuria, Glomerulopa... ORPHA:347
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hypertension, Polycystic kidney dysplasia OMIM:600666
Multicentric Carpotarsal Osteolysis Syndrome
Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Hypert... OMIM:166300
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypertension, Renal salt wasting, Hypospadias OMIM:201910
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Hypotension, Elevated circulating creatinine concentration, Reduced left ven... ORPHA:542323
Non-Functioning Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Sinus tachycardia, Conges... ORPHA:94080
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Elevated circulating creatinine concentration, Stage 5 chroni... OMIM:613095
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal insufficienc... OMIM:619468
Infection-Related Hemolytic Uremic Syndrome
Hypertensive crisis, Acute kidney injury, Oliguria, Anuria, Hypocalcemia, Hyponatremia, Decreased... ORPHA:544482
Rhabdoid Tumor
Hematuria, Hypertension, Weight loss, Internal hemorrhage, Renal neoplasm, Hypercalcemia ORPHA:69077
Lujo Hemorrhagic Fever
Hypotension, Oliguria, Shock, Renal insufficiency, Myocarditis, Bradycardia, Elevated circulating... ORPHA:319213
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia, Hypertension OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia, Hypertension OMIM:614495
Coenzyme Q10 Deficiency, Primary, 8
Renal dysplasia, Elevated circulating creatinine concentration, Abnormal renal corticomedullary d... OMIM:616733
Pseudohypoaldosteronism Type 2
Hyperkalemia, Hypertension ORPHA:757
Acute Monoblastic/Monocytic Leukemia
Oliguria, Weight loss ORPHA:514
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Polyarteritis Nodosa
Cardiomyopathy, Weight loss, Raynaud phenomenon, Abnormality of the kidney, Elevated circulating ... ORPHA:767
Apparent Mineralocorticoid Excess
Nephrocalcinosis, Failure to thrive, Renal insufficiency, Decreased circulating renin level, Hypo... ORPHA:320
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Failure to thrive, Medullary nephrocalcinosis, Nephrolithiasis, Hypercalciuria,... OMIM:143880
Apparent Mineralocorticoid Excess
Failure to thrive, Decreased circulating renin level, Hypokalemia, Hypertension, Small for gestat... OMIM:218030
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythmia, Hypertension ORPHA:1345
Cholera
Hypovolemic shock, Acute kidney injury, Hypotension, Abnormal blood ion concentration, Hypocalcem... ORPHA:173
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Potocki-Shaffer Syndrome
Micropenis, Hypertension, Nephroblastoma ORPHA:52022
Alport Syndrome 1, X-Linked
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Stag... OMIM:301050
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Hypoa... ORPHA:567548
Exercise-Induced Malignant Hyperthermia
Acute kidney injury, Oliguria, Hyperphosphatemia, Hypotension, Abnormal pulse pressure, Sinus tac... ORPHA:466650
Liddle Syndrome 2
Hypokalemia, Hypertension, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypokalemia, Hypertension, Decreased circulating renin level OMIM:618126
Nephronophthisis 3
Nephronophthisis, Failure to thrive, Stage 5 chronic kidney disease, Renal insufficiency, Protein... OMIM:604387
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Hypertension, Decreased circulating renin level OMIM:605115
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron... OMIM:613159
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas... ORPHA:2260
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Hypertension, Telangiectases producing 'marbled' skin OMIM:206570
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia, Hypertension OMIM:614496
Ethylene Glycol Poisoning
Hypotension, Congestive heart failure, Shock, Renal insufficiency, Hypocalcemia, Renal tubular dy... ORPHA:31826
Heme Oxygenase 1 Deficiency
Nephritis, Diffuse alveolar hemorrhage, Epistaxis, Increased circulating ferritin concentration, ... OMIM:614034
Bartter Syndrome, Type 3
Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Hypotension, Increased urinary potassium, Impa... OMIM:607364
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Obesity, Increased LDL cholesterol concentration, Hypert... OMIM:618620
Moyamoya Disease With Early-Onset Achalasia
Hypertension, Raynaud phenomenon ORPHA:401945
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hypokalemia, Hyponatr... ORPHA:90038
Renal Glucosuria
Enuresis nocturna, Glycosuria, Polyuria OMIM:233100
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Increased body weight, Hypertension, Abdominal obesity OMIM:615954
Neuroblastoma, Susceptibility To, 1
Elevated urinary dopamine level, Elevated urinary homovanillic acid, Failure to thrive, Elevated ... OMIM:256700
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Oliguria, Gastrointestinal hemorrhage, Recurrent urinary tract infections, R... ORPHA:731
Stiff Skin Syndrome
Hypertension, Abnormal circulating lipid concentration, Nephrolithiasis ORPHA:2833
Senior-Loken Syndrome 4
Stage 5 chronic kidney disease, Nephronophthisis, Polyuria OMIM:606996
Narcolepsy Type 1
Obesity, Syncope, Hypertension, Nocturia ORPHA:2073
Pseudo-Torch Syndrome 3
Acute kidney injury, Increased circulating ferritin concentration, Proteinuria, Cerebral hemorrha... OMIM:618886
Coach Syndrome 2
Elevated circulating creatinine concentration, Hypertension, Hyperechogenic kidneys OMIM:619111
Renal Agenesis
Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins... ORPHA:411709
Alport Syndrome
Thickened glomerular basement membrane, Focal segmental glomerulosclerosis, Glomerular basement m... ORPHA:63
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension OMIM:615378
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Abnormal T-wave, Palpitations, Increased urinary potassium, Decreased circulating reni... ORPHA:231625
Familial Hyperaldosteronism Type Iii
Epistaxis, Hypokalemia, Hypercalciuria, Prolonged QT interval, Intracranial hemorrhage, Hypertension ORPHA:251274
Renal Hypodysplasia/Aplasia 1
Proteinuria, Hypertension, Bilateral renal agenesis, Renal dysplasia OMIM:191830
Familial Cervical Artery Dissection
Transient ischemic attack, Cerebral ischemia, Subarachnoid hemorrhage, Recurrent cerebral hemorrh... ORPHA:36382
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Gastrointestinal hemorrhage, Abnormal urinary electrolyte concentration, Decreased H... ORPHA:85450
Tako-Tsubo Cardiomyopathy
Abnormal circulating B-type natriuretic peptide concentration, Mitral regurgitation, Arrhythmia, ... ORPHA:66529
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Hypertension, Decreased circulating renin level OMIM:614492
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Failure to thrive, Hyperechogenic kidneys, Hypomagnesemia, Hyperuricemia,... OMIM:613845
Ectopic Aldosterone-Producing Tumor
Epistaxis, Decreased circulating renin level, Hypokalemia, Hypertension, Renal cortical adenoma ORPHA:231632
Nephronophthisis 9
Stage 5 chronic kidney disease, Nephronophthisis, Polyuria, Renal cortical microcysts OMIM:613824
Pheochromocytoma
Elevated urinary norepinephrine level, Congestive heart failure, Positive regitine blocking test,... OMIM:171300
Primary Unilateral Adrenal Hyperplasia
Epistaxis, Palpitations, Increased urinary potassium, Decreased circulating renin level, Hypokale... ORPHA:231580
Mercury Poisoning
Acute kidney injury, Hypotension, Hypokalemia, Tachycardia, Hypertension ORPHA:330021
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Hypokalemia, Polyuria, Renal potassium... OMIM:618314
Fabry Disease
Lipiduria, Congestive heart failure, Transient ischemic attack, Renal insufficiency, Proteinuria,... OMIM:301500
Multiple Endocrine Neoplasia, Type Iia
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Palpitations, Elevated ur... OMIM:171400
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypocalciuria, Enuresis, Hypomagnesemia, Renal sodium wasting, Hypokalemia, Hypertension, Polyuri... OMIM:612780
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Sinus tachycardia, Conges... ORPHA:276621
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Arrhythmia, Wolff-Parkinson-White syndrome, Abnormal left ventricular f... OMIM:540000
Grange Syndrome
Aortic regurgitation, Hypertension ORPHA:79094
Birk-Landau-Perez Syndrome
Renal hypoplasia, Hyperechogenic kidneys, Stage 3 chronic kidney disease, Failure to thrive in in... OMIM:617595
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Hyperlipidemia, Elevated circulating creatine kinase co... OMIM:615980
Duplication Of Urethra
Anuria, Recurrent urinary tract infections, Dysuria, Rectourethral fistula, Distal urethral dupli... ORPHA:237
Hypomagnesemia 3, Renal
Chronic kidney disease, Hyperphosphatemia, Hematuria, Macroscopic hematuria, Abnormal circulating... OMIM:248250
Lipodystrophy, Familial Partial, Type 4
Hypertension, Hypertriglyceridemia OMIM:613877
Porphyria, Acute Intermittent
Urinary retention, Hypertension, Urinary incontinence, Elevated urinary delta-aminolevulinic acid... OMIM:176000
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Hy... ORPHA:567546
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Elevated systolic blood pressure, Hypernatriuria, Decreased circulating renin level, Hyponatremia... OMIM:300539
Moyamoya Disease 6 With Or Without Achalasia
Ischemic stroke, Hypertension, Raynaud phenomenon OMIM:615750
Plin1-Related Familial Partial Lipodystrophy
Hypertension, Hypertriglyceridemia ORPHA:280356
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Increased serum py... ORPHA:1349
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Ischemic stroke, Cerebral ischemia, Stress urinary incontinence, Cereb... ORPHA:136
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Elevate... OMIM:120330
Familial Hyperaldosteronism Type Ii
Hypokalemia, Epistaxis, Intracranial hemorrhage, Hypertension ORPHA:404
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Portal hyperte... OMIM:263200
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Failure to thrive, Decreased glomerular filtration rate, Renal ... OMIM:613090
Familial Hyperaldosteronism Type I
Hypokalemia, Epistaxis, Intracranial hemorrhage, Hypertension ORPHA:403
Bartter Syndrome, Type 5, Antenatal, Transient
Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Hypochloremia, I... OMIM:300971
Tetanus
Elevated urinary norepinephrine level, Elevated circulating creatine kinase concentration, Bradyc... ORPHA:3299
Arteriosclerosis, Severe Juvenile
Chronic kidney disease, Hypertension, Myocardial infarction OMIM:208060
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension, Failure to thrive OMIM:616069
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Bidirectional shunt, Renal cortical hyperechogenicity, Anuria, Megacystis, Pyelonephritis, Elevat... OMIM:619351
Paternal Uniparental Disomy Of Chromosome 1
Obesity, Proteinuria, Hypertension, Increased blood urea nitrogen, Membranoproliferative glomerul... ORPHA:251004
Nephronophthisis 4
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia... OMIM:606966
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Second degree atrioventricular block, Decreased circulating renin level, Hypokalemia, Nephrolithi... OMIM:615474
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Second degree atrioventricular block, Hematuria, Pulmonary arterial hypertension... OMIM:617021
Cirrhosis, Familial
Hypertension, Increased level of L-fucose in urine, Pulmonary arterial hypertension, Increased le... OMIM:215600
Senior-Loken Syndrome 1
Nephronophthisis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ... OMIM:266900
Igg4-Related Retroperitoneal Fibrosis
Acute kidney injury, Budd-Chiari syndrome, Elevated circulating creatinine concentration, Large v... ORPHA:49041
Type 1 Diabetes Mellitus
Decreased level of 1,5 anhydroglucitol in serum, Polyuria OMIM:222100
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi... OMIM:264800
Caudal Regression Syndrome
Renal agenesis, Abnormality of the ureter, Renal insufficiency, Vesicoureteral reflux, Hypertensi... ORPHA:3027
Familial Pseudohyperkalemia
Hyperkalemia, Hypertension ORPHA:90044
Simple Cryoglobulinemia
Nephritis, Vasculitis, Gastrointestinal hemorrhage, Congestive heart failure, Renal insufficiency... ORPHA:91139
Lipodystrophy, Familial Partial, Type 1
Hypertension, Hypertriglyceridemia OMIM:608600
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Second degree atrioventricular block, Nephrolithiasis, Hypokalemia, Pulmonary arterial... ORPHA:369929
Senior-Boichis Syndrome
Chronic kidney disease, Renal hypoplasia, Abnormal urinary electrolyte concentration, Hyperechoge... ORPHA:84081
Methanol Poisoning
Permanent atrial fibrillation, Inflammatory arteriopathy, Hyperlipidemia, Cerebral hemorrhage, In... ORPHA:31825
Familial Partial Lipodystrophy, Köbberling Type
Hypertension ORPHA:79084
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Gitelman Syndrome
Hypotension, Hypocalciuria, Enuresis, Renal magnesium wasting, Failure to thrive, Hypomagnesemia,... OMIM:263800
Hereditary Pheochromocytoma-Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Sinus tachycardia, Conges... ORPHA:29072
Lipodystrophy, Familial Partial, Type 5
Hypertension, Increased C-peptide level, Hypertriglyceridemia OMIM:615238
Porphyria Variegata
Chronic kidney disease, Increased urinary porphobilinogen, Abnormal circulating porphyrin concent... ORPHA:79473
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Abdominal obesity, Hypercholesterolemia, Truncal obesity... OMIM:615812
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti... ORPHA:563
Takayasu Arteritis
Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Cerebral ischemia, Pulmonary arteri... ORPHA:3287
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Micropenis, Tachycardia, Hypertension OMIM:613870
Eosinophilic Granulomatosis With Polyangiitis
Vasculitis, Congestive heart failure, Hypertrophic cardiomyopathy, Transient ischemic attack, Ren... ORPHA:183
Methylcobalamin Deficiency Type Cble
Failure to thrive, Hypomethioninemia, Glomerulopathy, Hyperhomocystinemia, Hypertension, Hemolyti... ORPHA:2169
Erythrocytosis, Familial, 1
Hypertension, Myocardial infarction, Cerebral hemorrhage OMIM:133100
Adrenocortical Carcinoma
Increased urinary cortisol level, Palpitations, Increased body weight, Abnormality of urine homeo... ORPHA:1501
Bartter Syndrome, Type 1, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Nephrocalcinosis, Small for... OMIM:601678
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Failure to th... ORPHA:1830
Neuroleptic Malignant Syndrome
Hypertensive crisis, Acute kidney injury, Hypotension, Hyperphosphatemia, Pulmonary embolism, Hyp... ORPHA:94093
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Glomerular sclerosis, Increased blood urea nitroge... OMIM:223900
Senior-Loken Syndrome 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Enuresis OMIM:606995
Aicardi-Goutieres Syndrome 9
Thickened glomerular basement membrane, Hypoalbuminemia, Failure to thrive, Recurrent urinary tra... OMIM:619487
Alopecia Universalis
Hypertension, Abnormal circulating lipid concentration ORPHA:701
Juvenile Paget Disease
Hypertension, Hyperuricemia ORPHA:2801
Morgagni-Stewart-Morel Syndrome
Hypertension, Obesity, Hypercholesterolemia, Hyperuricemia ORPHA:77296
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Failure to thrive, Decreased glomerular filtration rate, Reduce... OMIM:602522
Acute Intermittent Porphyria
Urinary retention, Dark urine, Increased urinary porphobilinogen, Renal insufficiency, Hyponatrem... ORPHA:79276
Sneddon Syndrome
Ischemic stroke, Hypertension, Cerebral hemorrhage OMIM:182410
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, ST segment depression, H... ORPHA:90065
Coach Syndrome 1
Unilateral renal agenesis, Nephronophthisis, Multiple small medullary renal cysts, Stage 5 chroni... OMIM:216360
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Hyperlipidemia, Hyperur... OMIM:232200
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Nephropathy, Gastrointestinal hemorrhage, Cardiomyopathy, Elevated circulating creatinine concent... ORPHA:247691
X-Linked Hypohidrotic Ectodermal Dysplasia
Hypertension ORPHA:181
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ... OMIM:194080
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Congestive heart failure, Renal artery stenosis, Hypophosphatemic rickets... OMIM:208000
Systemic Lupus Erythematosus 17
Raynaud phenomenon, Hypertensive crisis, Mitral regurgitation OMIM:301080
Gaisböck Syndrome
Nephrocalcinosis, Hypernatriuria, Elevated diastolic blood pressure, Obesity, Hyperuricemia, Hypo... ORPHA:90041
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Transient ischemic attack, Stage 5 chronic kidney disease, Re... OMIM:242900
Glycogen Storage Disease Ic
Focal segmental glomerulosclerosis, Spider hemangioma, Decreased glomerular filtration rate, Rena... OMIM:232240
Yellow Fever
Acute kidney injury, Anuria, Shock, Elevated circulating creatinine concentration, Reduced left v... ORPHA:99829
Ganglioneuroma
Gastrointestinal hemorrhage, Hypertension ORPHA:251992
Pituitary Adenoma 4, Acth-Secreting
Obesity, Nephrolithiasis, Hypokalemia, Abdominal obesity, Hypertension OMIM:219090
Riboflavin Transporter Deficiency
Cachexia, Hypertension ORPHA:97229
Postorgasmic Illness Syndrome
Palpitations, Hypertension ORPHA:279947
Primary Progressive Freezing Gait
Urinary incontinence, Hypertension ORPHA:75567
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Hypocalcemia, Hydroneph... OMIM:617913
Sickle Cell Disease
Hematuria, Renal insufficiency, Hypertension OMIM:603903
Xfe Progeroid Syndrome
Hypoalbuminemia, Failure to thrive, Renal insufficiency, Proteinuria, Cachexia, Hypertension OMIM:610965
Familial Dysautonomia
Renal insufficiency, Hyponatremia, Glomerulopathy, Orthostatic hypotension, Abnormality of the ki... ORPHA:1764
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Hypertension, Dilated cardiomyopathy, Ischemic stroke, Cerebral hemorrhage ORPHA:280679
Central Hypoventilation Syndrome, Congenital, 3
Episodic hypertension OMIM:619483
Familial Cerebral Saccular Aneurysm
Subarachnoid hemorrhage, Transient ischemic attack, Hypertension, Intracranial hemorrhage ORPHA:231160
Wagro Syndrome
Proteinuria, Obesity, Hypertension, Nephroblastoma OMIM:612469
Lipodystrophy, Familial Partial, Type 3
Hypertension, Decreased HDL cholesterol concentration, Hyperuricemia, Hypertriglyceridemia OMIM:604367
Developmental And Epileptic Encephalopathy 111
Premature ventricular contraction, Hypertension, Sinus tachycardia, Nephrolithiasis OMIM:620504
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Failure to thrive, Hypernatremia, Polyuria, Megacystis OMIM:125800
Serotonin Syndrome
Hypotension, Tachycardia, Acute kidney injury, Hypertension ORPHA:43116
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Failure to thrive, Hypernatremia, Polyuria, Megacystis OMIM:304800
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Hypertension OMIM:202110
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Decreased circulating iron concentration, Acute kidney injury, Pulmonary ... ORPHA:447
Infant Botulism
Hyponatremia, Cardiac arrest, Hypotension, Hypertension ORPHA:178478
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertension, Hypertriglyceridemia ORPHA:363400
Cocaine Intoxication
Acute kidney injury, Diffuse alveolar hemorrhage, Hypotension, Ventricular arrhythmia, Prolonged ... ORPHA:90068
Amelogenesis Imperfecta, Type Ig
Nephrocalcinosis, Renal insufficiency, Impaired renal concentrating ability, Polyuria, Enuresis OMIM:204690
Galloway-Mowat Syndrome 3
Hypoalbuminemia, Failure to thrive, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangia... OMIM:617729
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Hypertension, Truncal obesity OMIM:610489
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Nephronophthisis 11
Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal... OMIM:613550
Overlap Myositis
Abnormal circulating lipid concentration, Elevated circulating creatine kinase concentration, Pul... ORPHA:206572
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Failure to thrive, Hypertrophic cardiomyopathy, Hyperammonemia, 3-Methylglutaconic aciduria, Hype... OMIM:614052
Neuroblastoma
Elevated urinary homovanillic acid, Increased circulating ferritin concentration, Elevated urinar... ORPHA:635
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Hyperlipidemia, Hyperur... OMIM:232220
Bartter Syndrome, Type 2, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Nephrocalcinosis, Small for... OMIM:241200
Pheochromocytoma/Paraganglioma Syndrome 4
Palpitations, Hypertension associated with pheochromocytoma, Elevated urinary catecholamine level... OMIM:115310
Beta-Ketothiolase Deficiency
Hypotension, Ketonuria, Hyperammonemia, Hyperuricemia, Weight loss, Hypertension ORPHA:134
Primary Hyperoxaluria Type 3
Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo... ORPHA:93600
Pituitary Adenoma 1, Multiple Types
Hypertension, Cardiomyopathy OMIM:102200
Acquired Generalized Lipodystrophy
Abnormal circulating lipid concentration, Cardiomyopathy, Abnormal cardiovascular system physiolo... ORPHA:79086
Fabry Disease
Nephropathy, Mitral regurgitation, Hematuria, Arrhythmia, Nephrotic syndrome, Hypertrophic cardio... ORPHA:324
Alagille Syndrome
Failure to thrive, Abnormality of the ureter, Renal hypoplasia/aplasia, Telangiectasia of the ski... ORPHA:52
Arima Syndrome
Nephronophthisis, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, Proteinuria, R... OMIM:243910
Lead Poisoning
Chronic kidney disease, Increased LDL cholesterol concentration, Renal tubular dysfunction, Decre... ORPHA:330015
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Failure to thrive, Hyperphosphaturia, Hypercalciuria, Hypophosphatemia, Polyuria, ... OMIM:239200
Helix Syndrome
Hypermagnesemia, Hypocalciuria, Renal insufficiency, Nephrolithiasis, Hypokalemia, Polyuria OMIM:617671
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Renal hypoplasia, Hypertension, Absence of renal corticomedullary differentiation OMIM:619758
Paroxysmal Hemicrania
Hypertension ORPHA:157835
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Proximal tubulopathy, Polyuria, Failure to thrive OMIM:560000
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased urinary 11-deoxycorticosterone level, Long penis, Decreased circulating renin level, Hy... ORPHA:90795
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Hyperlipidemia, Nephrolithiasis, Increased body weight, Renal c... ORPHA:189427
Scorpion Envenomation
Acute kidney injury, Cardiogenic shock, Ketonuria, Glycosuria, Prominent U wave, Congestive heart... ORPHA:466677
Isolated Ectopia Lentis
Hypertension ORPHA:1885
Teratoma, Pineal
Polyuria OMIM:273120
Glucocorticoid Resistance, Generalized
Hypertension OMIM:615962
Granulomatosis With Polyangiitis
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Ureteral stenosis, Cerebral ischemia, Renal i... ORPHA:900
Seckel Syndrome 10
Glycosuria, Congestive heart failure, Hypertriglyceridemia, Elevated hemoglobin A1c, Hypertension OMIM:617253
Spondyloenchondrodysplasia
Chronic kidney disease, Vasculitis, Hematuria, Proteinuria, Raynaud phenomenon, Hypertension ORPHA:1855
Bardet-Biedl Syndrome 17
Obesity, Stage 5 chronic kidney disease, Renal cyst, Polyuria, Micropenis OMIM:615994
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Nephrocalcinosis, Restrictive cardiomyopathy, Angina pectoris, Telan... ORPHA:758
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight, Hypertension OMIM:615830
Scalp-Ear-Nipple Syndrome
Duplication of renal pelvis, Recurrent urinary tract infections, Pyelonephritis, Abnormality of t... ORPHA:2036
Pparg-Related Familial Partial Lipodystrophy
Congestive heart failure, Hypertrophic cardiomyopathy, Hyperuricemia, Hypertriglyceridemia, Hyper... ORPHA:79083
Cutis Marmorata Telangiectatica Congenita
Telangiectasia, Hypertension OMIM:219250
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Pulmonary arterial hypertension, Hypertension, Small for gestational age OMIM:613320
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:605373
Fragile X-Associated Tremor/Ataxia Syndrome
Hypertension, Hypotension, Pollakisuria, Urinary bladder sphincter dysfunction ORPHA:93256
Joubert Syndrome 14
Renal cyst, Intracranial hemorrhage, Hypertension OMIM:614424
Gaucher Disease, Type I
Aortic valve stenosis, Epistaxis, Mitral regurgitation, Pulmonary arterial hypertension, Hyperten... OMIM:230800
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Hematuria, Weight loss, Hypophosphatemia, Aminoaci... OMIM:219800
Stiff-Person Syndrome
Tachycardia, Hypertension OMIM:184850
Low Phospholipid-Associated Cholelithiasis
Hypertension, Obesity, Overweight, Hypercholesterolemia ORPHA:69663
Alstrom Syndrome
Nephritis, Dilated cardiomyopathy, Decreased HDL cholesterol concentration, Congestive heart fail... OMIM:203800
Pierson Syndrome
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Proteinuria, Hypertension, Diffuse mesang... OMIM:609049
Postinfectious Vasculitis
Cerebral vasculitis, Elevated haptoglobin level, Cardiomyopathy, Ischemic stroke, Hematuria, Prot... ORPHA:48435
Von Hippel-Lindau Disease
Cardiomyopathy, Palpitations, Elevated urinary catecholamine level, Arrhythmia, Multiple renal cy... ORPHA:892
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hematochezia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Polyuria, Hypertriglyc... OMIM:618183
Extracranial Carotid Artery Aneurysm
Vasculitis, Arteritis, Cerebral ischemia, Subarachnoid hemorrhage, Hypertension ORPHA:494424
Polycythemia Vera
Epistaxis, Gastrointestinal hemorrhage, Pulmonary embolism, Budd-Chiari syndrome, Portal hyperten... ORPHA:729
Werner Syndrome
Congestive heart failure, Slender build, Telangiectasia of the skin, Renal neoplasm, Hypertension... ORPHA:902
Monosomy 18P
Hypertension ORPHA:1598
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia, Polyuria, Nephrolithiasis OMIM:617994
Cockayne Syndrome Type 1
Failure to thrive, Renal insufficiency, Proteinuria, Increased blood urea nitrogen, Hypertension ORPHA:90321
Pediatric-Onset Graves Disease
Sinus tachycardia, Failure to thrive, Congestive heart failure, Palpitations, Atrial fibrillation... ORPHA:525731
Acth-Independent Macronodular Adrenal Hyperplasia
Hypertension, Truncal obesity OMIM:219080
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Congestive heart failure, Papillary renal cell carcinoma, Mitral regurgita... ORPHA:363618
Pigmented Nodular Adrenocortical Disease, Primary, 2
Hypertension, Truncal obesity OMIM:610475
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Hypertension OMIM:617763
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:79126
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypokalemia, Long penis, Hypertension, Decreased circulating renin level OMIM:202010
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased urinary 11-deoxycorticosterone level, Failure to thrive, Decreased circulating renin le... ORPHA:90793
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Dilated cardiomyopathy, Hypertension, Cerebral hemorrhage OMIM:300845
Von Hippel-Lindau Syndrome
Hypertension, Multiple renal cysts, Renal cell carcinoma OMIM:193300
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Epistaxis, Nephrocalcinosis, Failure to thrive, Stage 5 chronic kidney disease, Hyperlipidemia, P... ORPHA:79259
Nelson Syndrome
Increased urinary cortisol level, Intracranial hemorrhage, Hypertension, Hypokalemia ORPHA:199244
Pheochromocytoma/Paraganglioma Syndrome 1
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:168000
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Hypertension, Hypokalemia ORPHA:786
Systemic Lupus Erythematosus
Hematuria, Proteinuria, Weight loss, Lupus nephritis, Raynaud phenomenon, Hypertension, Pyuria ORPHA:536
Aortic Arch Interruption
Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Shock, Blood pressure su... ORPHA:2299
Autosomal Dominant Dopa-Responsive Dystonia
Hypertension, Transient hyperphenylalaninemia ORPHA:98808
Alkaptonuria
Aminoaciduria, Aortic valve stenosis, Elevated urinary homogentisic acid, Dark urine, Mitral regu... ORPHA:56
Multiple Endocrine Neoplasia Type 2
Hypertensive crisis, Elevated urinary norepinephrine level, Palpitations, Hypertension associated... ORPHA:653
Tuberous Sclerosis Complex
Chronic kidney disease, Stage 5 chronic kidney disease, Renal insufficiency, Hypertension, Renal ... ORPHA:805
Hurler Syndrome
Angina pectoris, Mucopolysacchariduria, Hypertension, Cardiomyopathy ORPHA:93473
Carey-Fineman-Ziter Syndrome
Glandular hypospadias, Hypertensive crisis, Hydronephrosis ORPHA:1358
Crimean-Congo Hemorrhagic Fever
Hematuria, Tachycardia, Diffuse alveolar hemorrhage, Bundle branch block, Hemothorax, Hemoperiton... ORPHA:99827
Livedoid Vasculopathy
Abnormal circulating lipid concentration, Ischemic stroke, Telangiectasia of the skin, Hyperhomoc... ORPHA:542643
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Nephrocalcinosis, Hyperphosphatemia, Decreased renal tubular phosphate excretion, Increased renal... OMIM:211900
Pituitary Apoplexy
Hyponatremia, Hypotension, Hypertension ORPHA:95613
Bardet-Biedl Syndrome 1
Obesity, Abdominal obesity, Truncal obesity, Abnormality of the kidney, Micropenis, Hypertension OMIM:209900
Acute Transverse Myelitis
Urinary retention, Urinary bladder sphincter dysfunction, Subarachnoid hemorrhage, Orthostatic hy... ORPHA:139417
Au-Kline Syndrome
Chronic kidney disease, Dilatation of the renal pelvis, Failure to thrive, Vesicoureteral reflux,... OMIM:616580
Pseudohypoparathyroidism Type 1A
Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Hypocalcemic tetany, Ob... ORPHA:79443
Aicardi-Goutieres Syndrome 7
Vasculitis, Hematochezia, Increased circulating ferritin concentration, Hypertrophic cardiomyopat... OMIM:615846
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Renal artery stenosis, Hyperlipidemia, Mitral regurgitat... ORPHA:391665
Aorta Coarctation
Pulmonary arterial hypertension, Hypertension, Congestive heart failure ORPHA:1457
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrioventricular block, Hypertension ORPHA:371428
Hardikar Syndrome
Hypoplasia of the bladder, Hydroureter, Failure to thrive, Recurrent urinary tract infections, Py... OMIM:301068
Scalp-Ear-Nipple Syndrome
Unilateral renal agenesis, Renal hypoplasia, Congestive heart failure, Pyelonephritis, Renal insu... OMIM:181270
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Arrhythmia, Hypertension ORPHA:139411
Combined Oxidative Phosphorylation Deficiency 15
Obesity, Hypertension, Wolff-Parkinson-White syndrome, Shortened PR interval OMIM:614947
Nestor-Guillermo Progeria Syndrome
Failure to thrive, Sinus tachycardia, Mitral regurgitation, Right bundle branch block, Pulmonary ... OMIM:614008
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Acute kidney injury, Nephronophthisis, Failure to thrive, Stage 5 chronic kidney disease, Reduced... OMIM:266920
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hypertension ORPHA:449291
Xq21 Microdeletion Syndrome
Obesity, Renal artery stenosis, Hypertension ORPHA:1435
Poliomyelitis
Hypovolemic shock, Hypotension, Hypertension ORPHA:2912
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Vasculitis, Dilated cardiomyopathy, Portal hypertension, Raynaud phenomenon, Elevated circulating... OMIM:615688
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Telangiectasia of ... ORPHA:3342
Cockayne Syndrome B
Failure to thrive, Renal insufficiency, Proteinuria, Severe failure to thrive, Arrhythmia, Microp... OMIM:133540
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Tachycardia, Hypertension, Bradycardia OMIM:614653
Beare-Stevenson Cutis Gyrata Syndrome
Hypertension, Hypospadias OMIM:123790
Arterial Tortuosity Syndrome
Aortic valve stenosis, Aortic regurgitation, Ischemic stroke, Telangiectases of the cheeks, Hyper... OMIM:208050
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hypertension ORPHA:1555
Lipodystrophy, Familial Partial, Type 7
Failure to thrive, Pulmonary arterial hypertension, Hypercholesterolemia, Polyuria, Orthostatic h... OMIM:606721
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Transient ischemic attack, Ischemic stroke, Subarachnoid hemorrhage, Abnorm... ORPHA:91387
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Hydronephrosis, Hypertension ORPHA:2750
Cockayne Syndrome A
Failure to thrive, Renal insufficiency, Proteinuria, Arrhythmia, Micropenis, Hypertension OMIM:216400
Lipodystrophy, Familial Partial, Type 2
Hypertension, Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:151660
Cockayne Syndrome
Unilateral renal agenesis, Renal hypoplasia, Renal insufficiency, Retinal hemorrhage, Hyperuricem... ORPHA:191
Blau Syndrome
Nephropathy, Large vessel vasculitis, Stage 5 chronic kidney disease, Clear cell renal cell carci... ORPHA:90340
Myhre Syndrome
Abnormal penis morphology, Hypospadias, Epispadias, Hypertension ORPHA:2588
Familial Bicuspid Aortic Valve
Aortic valve stenosis, Heart murmur, Aortic regurgitation, Hypertension ORPHA:402075
Alexander Disease
Hypertension, Hypotension, Sudden cardiac death, Failure to thrive ORPHA:58
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Third degree atrioventricular block, Hypokalemia, Pulmonary arterial hype... OMIM:619573
Smooth Muscle Dysfunction Syndrome
Pulmonary arterial hypertension, Hypertension OMIM:613834
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hypertension OMIM:616914
Hunter-Macdonald Syndrome
Aortic regurgitation, Hypospadias, Mitral regurgitation, Hypertension OMIM:611962
Familial Osteodysplasia, Anderson Type
Hypertension, Hyperuricemia ORPHA:2769
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Gastrointestinal hemorrhage, Pulmonary embolism, Cerebral ischemia, Intracranial hemorrhage, Hype... ORPHA:394
Bardet-Biedl Syndrome
Chronic kidney disease, Cardiomyopathy, Horseshoe kidney, Obesity, Vesicoureteral reflux, Hypertr... ORPHA:110
Telangiectasia, Hereditary Hemorrhagic, Type 2
Nasal mucosa telangiectasia, Facial telangiectasia, Cerebral hemorrhage, Fingerpad telangiectases... OMIM:600376
Orofaciodigital Syndrome I
Proteinuria, Polycystic kidney dysplasia, Hypertension OMIM:311200
Tsh-Secreting Pituitary Adenoma
Hypotension, Congestive heart failure, Palpitations, Hypokalemia, Weight loss, Supraventricular a... ORPHA:91347
Cushing Disease
Increased urinary cortisol level, Capillary fragility, Increased body weight, Truncal obesity, Ab... ORPHA:96253
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Failure to thrive, ... OMIM:270400
Apert Syndrome
Hypertension ORPHA:87
Hallermann-Streiff Syndrome
Telangiectasia, Pulmonary arterial hypertension, Hypertension, Small for gestational age OMIM:234100
Mucopolysaccharidosis Type 2, Severe Form
Cardiomyopathy, Heparan sulfate excretion in urine, Arrhythmia, Dermatan sulfate excretion in uri... ORPHA:217085
Williams Syndrome
Mitral regurgitation, Failure to thrive in infancy, Hypertrophic cardiomyopathy, Obesity, Renal i... ORPHA:904
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Unilateral renal agenesis, Abnormality of the urinary system, Dilatation of the renal pelvis, Ves... ORPHA:95699
Williams-Beuren Syndrome
Mitral regurgitation, Failure to thrive in infancy, Obesity, Renal insufficiency, Abnormal renal ... OMIM:194050
Mucopolysaccharidosis Type 2, Attenuated Form
Cardiomyopathy, Heparan sulfate excretion in urine, Arrhythmia, Dermatan sulfate excretion in uri... ORPHA:217093
Cranioectodermal Dysplasia 2
Hypertension, Renal cyst, Hyperbilirubinemia, Renal insufficiency OMIM:613610
Prader-Willi Syndrome
Hypertension, Failure to thrive, Abdominal obesity ORPHA:739
Acromegaly
Long penis, Hypertrophic cardiomyopathy, Wide penis, Mitral regurgitation, Hypertension, Dysuria ORPHA:963
Congenital Disorder Of Glycosylation, Type Iim
Hypertension, Neonatal hyperbilirubinemia, Vesicovaginal fistula, Ureteropelvic junction obstruction OMIM:300896
Multiple Endocrine Neoplasia Type 1
Shortened QT interval, Nephrolithiasis, Hypertension, Hypercalciuria, Weight loss, Hematemesis, M... ORPHA:652
Marshall-Smith Syndrome
Failure to thrive, Decreased body weight, Premature ventricular contraction, Pulmonary arterial h... OMIM:602535
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Ketonuria, Failure to thrive, Hypertrophic cardiomyopathy, Hyperammonemia, Mitral regurgitation, ... OMIM:220111
Blau Syndrome
Hypertension, Pericarditis OMIM:186580
Generalized Arterial Calcification Of Infancy
Nephrocalcinosis, Cortical nephrocalcinosis, Failure to thrive in infancy, Medullary nephrocalcin... ORPHA:51608
Neurofibromatosis, Type I
Renal artery stenosis, Hypertension OMIM:162200
Somatomammotropinoma
Hypertrophic cardiomyopathy, Dysuria, Mitral regurgitation, Hypertension ORPHA:314769
Atypical Werner Syndrome
Aortic valve stenosis, Glycosuria, Failure to thrive, Congestive heart failure, Decreased body we... ORPHA:79474
Yunis-Varon Syndrome
Cardiomyopathy, Renal artery stenosis, Hypertension, Severe failure to thrive, Pulmonary arterial... ORPHA:3472
Autosomal Recessive Hypophosphatemic Rickets
Renal phosphate wasting, Renal hypophosphatemia, Hypophosphatemic rickets, Hyperphosphaturia, Abn... ORPHA:289176
Zttk Syndrome
Aortic regurgitation, Unilateral renal agenesis, Failure to thrive, Horseshoe kidney, Polyuria OMIM:617140
Turner Syndrome Due To Structural X Chromosome Anomalies
Horseshoe kidney, Failure to thrive in infancy, Obesity, Renal hypoplasia/aplasia, Hypertension, ... ORPHA:99413
Turner Syndrome
Horseshoe kidney, Failure to thrive in infancy, Obesity, Renal hypoplasia/aplasia, Hypertension, ... ORPHA:881
Mosaic Monosomy X
Horseshoe kidney, Failure to thrive in infancy, Obesity, Renal hypoplasia/aplasia, Hypertension, ... ORPHA:99228
Monosomy X
Horseshoe kidney, Failure to thrive in infancy, Obesity, Renal hypoplasia/aplasia, Hypertension, ... ORPHA:99226
Hutchinson-Gilford Progeria Syndrome
Aortic valve stenosis, Aortic regurgitation, Left ventricular systolic dysfunction, Transient isc... ORPHA:740
Myhre Syndrome
Aortic valve stenosis, Obesity, Hypertension, Small for gestational age OMIM:139210
22Q11.2 Deletion Syndrome
Hypertensive crisis, Renal hypoplasia, Gastrointestinal hemorrhage, Failure to thrive, Obesity, V... ORPHA:567
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Renal hypoplasia, Failure to thrive, Hyperbilirubinemia, Hypertension, Renal cyst, Micropenis, Po... OMIM:210710
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Vesicovaginal fistula, Horseshoe kidney, Decreased circulating renin level, Hyponatremia, Hyperte... OMIM:201750
Adams-Oliver Syndrome 1
Aortic valve stenosis, Pulmonary arterial hypertension, Hypertension, Pulmonic stenosis OMIM:100300
Mucopolysaccharidosis Type 2
Arrhythmia, Hypertension, Cardiomyopathy ORPHA:580
Cushing Syndrome Due To Ectopic Acth Secretion
Increased urinary cortisol level, Capillary fragility, Increased body weight, Weight loss, Trunca... ORPHA:99889
Neurofibromatosis Type 1
Abnormality of the upper urinary tract, Hypertension ORPHA:636
17Q11 Microdeletion Syndrome
Hypertrophic cardiomyopathy, Renal artery stenosis, Telangiectasia of the skin, Pulmonary arteria... ORPHA:97685
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal agenesis, Corneal neovascularizati... OMIM:308205
Keutel Syndrome
Hypertension, Pulmonic stenosis OMIM:245150
Alström Syndrome
Chronic kidney disease, Glomerulonephritis, Urinary incontinence, Abnormal coronary artery physio... ORPHA:64
Vascular Ehlers-Danlos Syndrome
Transient ischemic attack, Cystocele, Hypokalemia, Bladder diverticulum, Hypertension, Telangiect... ORPHA:286
Carney Complex
Increased body weight, Congestive heart failure, Hypertension, Abdominal obesity 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

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