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Gene: Map3k15 MGI:2448588

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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:
mitogen-activated protein kinase kinase kinase 15
Synonyms:
N/A

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 Map3k15 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 Map3k15 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
Hypertension, Essential
Elevated mean arterial pressure, Elevated systolic blood pressure, Elevated diastolic blood pressure OMIM:145500
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
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote... OMIM:603965
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro... OMIM:616818
Nail-Patella-Like Renal Disease
Renal insufficiency, Proteinuria, Glomerulopathy, Microscopic hematuria, Hypertension ORPHA:2613
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, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Microscopic hematuri... 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
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,... ORPHA:54370
Iga Nephropathy, Susceptibility To, 1
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematur... OMIM:161950
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduced renal corticomedullary differenti... OMIM:617610
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria, Hypertension ORPHA:2820
Fibronectin Glomerulopathy
Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Microscopic hematuria... ORPHA:84090
Preeclampsia/Eclampsia 1
Proteinuria, Hypertension OMIM:189800
Denys-Drash Syndrome
Nephropathy, Nephroblastoma, Proteinuria, Nephrotic syndrome, Hypertension ORPHA:220
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension OMIM:166990
Pheochromocytoma/Paraganglioma Syndrome 6
Hypertension OMIM:618464
Liddle Syndrome
Nephropathy, Cerebral ischemia, Renal insufficiency, Arrhythmia, Hypertension ORPHA:526
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia, Hypertension ORPHA:2111
Trimethylaminuria
Tachycardia, Trimethylaminuria, Hypertension OMIM:602079
Coronary Artery Disease, Autosomal Dominant, 1
Hypertension, Myocardial infarction OMIM:608320
Adenine Phosphoribosyltransferase Deficiency
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... ORPHA:976
Amyloidosis, Hereditary Systemic 2
Nephropathy, Renal amyloidosis, Proteinuria, Hematuria, Nephrotic syndrome, Hypertension OMIM:105200
Lessel-Kubisch Syndrome
Renal hypoplasia, Hypertension, Renal insufficiency OMIM:618681
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, ... ORPHA:567544
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hypert... OMIM:618061
Cardiomyopathy, Familial Hypertrophic, 30, Atrial
Atrial fibrillation, Reduced left ventricular ejection fraction, Atrial flutter, Hypertension OMIM:620734
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Proteinuria, Hematuria, Hypertension, Abnormal renal physiology OMIM:123550
Melorheostosis With Osteopoikilosis
Hypertension ORPHA:1879
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart... ORPHA:3193
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Nephronophthisis 18
Thickened glomerular basement membrane, Nephronophthisis, Stage 5 chronic kidney disease, Renal t... OMIM:615862
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2
Lacunar stroke, Transient ischemic attack, Hypertension OMIM:616779
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduc... OMIM:603278
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Alport Syndrome 2, Autosomal Recessive
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag... OMIM:203780
Hypertension And Brachydactyly Syndrome
Hypertension OMIM:112410
Nephronophthisis 1
Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal... OMIM:256100
Ochoa Syndrome
Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficie... ORPHA:2704
C3 Glomerulopathy
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Stage 5 ... ORPHA:329918
Senior-Loken Syndrome
Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis, Hypertension ORPHA:3156
Coronary Artery Disease, Autosomal Dominant 2
Sudden cardiac death, Hypertension, Myocardial infarction OMIM:610947
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Arrhythmia, Hypertension, Cardiomyopathy ORPHA:3222
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension OMIM:615378
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anuria, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Hypertension... OMIM:612925
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hypertension, Mitral regurgitation, Renal insufficiency OMIM:173900
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hypertension, Hemolytic-uremic syndrome OMIM:612924
Coproporphyria, Hereditary
Elevated urinary coproporphyrin level, Elevated urinary delta-aminolevulinic acid, Increased urin... OMIM:121300
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythmia, Hypertension ORPHA:1345
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hypertension, Hemolytic-uremic syndrome OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hypertension, Hemolytic-uremic syndrome OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hypertension, Hemolytic-uremic syndrome OMIM:612926
Posterior Urethral Valve
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... ORPHA:93110
Hyperaldosteronism, Familial, Type Ii
Hypertension OMIM:605635
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hypertension OMIM:600666
Moyamoya Disease With Early-Onset Achalasia
Hypertension, Raynaud phenomenon ORPHA:401945
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Hypotension, Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal ... OMIM:174000
Liddle Syndrome 1
Hypertension, Renal insufficiency OMIM:177200
Hyperaldosteronism, Familial, Type I
Abnormality of the urinary system, Hypertension OMIM:103900
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic... OMIM:602088
Preeclampsia
Chronic kidney disease, Elevated systolic blood pressure, Acute kidney injury, Elevated diastolic... ORPHA:275555
Alport Syndrome 3A, Autosomal Dominant
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph... OMIM:104200
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Hypertension, Telangiectases producing 'marbled' skin OMIM:206570
Arterial Calcification, Generalized, Of Infancy, 2
Nephrocalcinosis, Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regur... OMIM:614473
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Hypertension OMIM:605115
Sneddon Syndrome
Nephropathy, Intracranial hemorrhage, Hypertension ORPHA:820
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, Tubulointerstitial fibros... OMIM:618913
Alagille Syndrome 2
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Proteinuria, Renal cyst, Hematuria... OMIM:610205
Aapoaiv Amyloidosis
Chronic kidney disease, Renal amyloidosis, Atrial flutter, Hypertrophic cardiomyopathy, Supravalv... ORPHA:439232
Morbid Obesity And Spermatogenic Failure
Hypertension, Myocardial infarction, Congestive heart failure OMIM:615703
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Nephrotic syndrome, Hypertension, Proteinuria ORPHA:1192
Frasier Syndrome
Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Proteinuria, Glomerulopa... ORPHA:347
Grange Syndrome
Aortic regurgitation, Hypertension ORPHA:79094
Pseudohypoaldosteronism, Type Iia
Hypertension OMIM:145260
Familial Cervical Artery Dissection
Transient ischemic attack, Cerebral ischemia, Subarachnoid hemorrhage, Recurrent cerebral hemorrh... ORPHA:36382
Multicentric Carpotarsal Osteolysis Syndrome
Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Hypert... OMIM:166300
Nephroblastoma
Hematuria, Hypertension, Nephroblastoma ORPHA:654
Glutaric Aciduria Iii
Glutaric aciduria, Hypertension OMIM:231690
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypospadias, Renal salt wasting, Hypertension OMIM:201910
Pheochromocytoma--Islet Cell Tumor Syndrome
Elevated urinary norepinephrine level, Congestive heart failure, Positive regitine blocking test,... OMIM:171420
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron... OMIM:613159
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertension ORPHA:71529
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
Moyamoya Disease 6 With Or Without Achalasia
Ischemic stroke, Hypertension, Raynaud phenomenon OMIM:615750
Corticosteroid-Binding Globulin Deficiency
Hypotension, Hypertension, Decreased urinary potassium OMIM:611489
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Arrhythmia, Wolff-Parkinson-White syndrome, Abnormal left ventricular f... OMIM:540000
Alport Syndrome
Thickened glomerular basement membrane, Focal segmental glomerulosclerosis, Glomerular basement m... ORPHA:63
Coenzyme Q10 Deficiency, Primary, 8
Hypertension, Renal dysplasia, Abnormal renal corticomedullary differentiation OMIM:616733
Non-Functioning Paraganglioma
Elevated urinary dopamine level, Sinus tachycardia, Elevated urinary norepinephrine level, Conges... ORPHA:94080
Pseudohypoaldosteronism Type 2
Hypertension ORPHA:757
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas... ORPHA:2260
Polyarteritis Nodosa
Cardiomyopathy, Raynaud phenomenon, Abnormality of the kidney, Hypertension, Pericarditis ORPHA:767
Familial Partial Lipodystrophy, Köbberling Type
Hypertension ORPHA:79084
Hyperaldosteronism, Familial, Type Iii
Hypercalciuria, Hypertension, Polyuria OMIM:613677
Renal Agenesis
Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins... ORPHA:411709
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Renal insufficiency, Hyperten... OMIM:613095
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... OMIM:310468
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... ORPHA:97362
Rhabdoid Tumor
Hematuria, Hypertension, Internal hemorrhage, Renal neoplasm ORPHA:69077
Erythrocytosis, Familial, 1
Hypertension, Myocardial infarction, Cerebral hemorrhage OMIM:133100
Coach Syndrome 2
Hypertension, Hyperechogenic kidneys OMIM:619111
Tako-Tsubo Cardiomyopathy
Atrial fibrillation, Hypotension, Cardiogenic shock, Prolonged QTc interval, Palpitations, Mitral... ORPHA:66529
Liddle Syndrome 2
Hypertension OMIM:618114
Liddle Syndrome 3
Hypertension OMIM:618126
Pseudohypoaldosteronism, Type Iib
Hypertension OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hypertension OMIM:614495
Renal Hypodysplasia/Aplasia 1
Proteinuria, Hypertension, Bilateral renal agenesis, Renal dysplasia OMIM:191830
Heme Oxygenase 1 Deficiency
Epistaxis, Diffuse alveolar hemorrhage, Nephritis, Hematuria, Proteinuria, Hypertension OMIM:614034
Lipodystrophy, Familial Partial, Type 4
Hypertension OMIM:613877
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension OMIM:616069
Stiff Skin Syndrome
Hypertension, Nephrolithiasis ORPHA:2833
Narcolepsy Type 1
Syncope, Hypertension, Nocturia ORPHA:2073
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Hyperechogenic kidneys, Portal hypertension, Renal insuffic... OMIM:263200
Fabry Disease
Lipiduria, Congestive heart failure, Transient ischemic attack, Renal insufficiency, Proteinuria,... OMIM:301500
Plin1-Related Familial Partial Lipodystrophy
Hypertension ORPHA:280356
Central Hypoventilation Syndrome, Congenital, 3
Episodic hypertension OMIM:619483
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hypertension, Congestive heart failure ORPHA:1349
Pheochromocytoma
Elevated urinary norepinephrine level, Congestive heart failure, Positive regitine blocking test,... OMIM:171300
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Hypertension OMIM:202110
Multiple Endocrine Neoplasia, Type Iia
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Palpitations, Elevated ur... OMIM:171400
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti... ORPHA:563
X-Linked Hypohidrotic Ectodermal Dysplasia
Hypertension ORPHA:181
Pseudo-Torch Syndrome 3
Proteinuria, Acute kidney injury, Hypertension, Cerebral hemorrhage OMIM:618886
Familial Hyperaldosteronism Type Iii
Epistaxis, Hypercalciuria, Prolonged QT interval, Intracranial hemorrhage, Hypertension ORPHA:251274
Postorgasmic Illness Syndrome
Palpitations, Hypertension ORPHA:279947
Sneddon Syndrome
Ischemic stroke, Hypertension, Cerebral hemorrhage OMIM:182410
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Gastrointestinal hemorrhage, Abnormal urinary electrolyte concentration, Congestive ... ORPHA:85450
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Ischemic stroke, Cerebral ischemia, Stress urinary incontinence, Cereb... ORPHA:136
Apparent Mineralocorticoid Excess
Abnormal urine sodium concentration, Nephrocalcinosis, Hypertension, Renal insufficiency ORPHA:320
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Renal malrotation, Horses... OMIM:120330
Takayasu Arteritis
Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Cerebral ischemia, Pulmonary arteri... ORPHA:3287
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Pseudohypoaldosteronism, Type Iie
Hypertension OMIM:614496
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi... OMIM:264800
Ganglioneuroma
Gastrointestinal hemorrhage, Hypertension ORPHA:251992
Caudal Regression Syndrome
Renal agenesis, Abnormality of the ureter, Renal insufficiency, Vesicoureteral reflux, Ectopic ki... ORPHA:3027
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Micropenis, Tachycardia, Hypertension OMIM:613870
Methanol Poisoning
Inflammatory arteriopathy, Permanent atrial fibrillation, Cerebral hemorrhage, Intracranial hemor... ORPHA:31825
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Abnormal T-wave, Palpitations, Increased urinary potassium, Intracranial hemorrhage, H... ORPHA:231625
Lipodystrophy, Familial Partial, Type 1
Hypertension OMIM:608600
Systemic Lupus Erythematosus 17
Raynaud phenomenon, Hypertensive crisis, Mitral regurgitation OMIM:301080
Arteriosclerosis, Severe Juvenile
Chronic kidney disease, Hypertension, Myocardial infarction OMIM:208060
Mercury Poisoning
Acute kidney injury, Tachycardia, Hypotension, Hypertension ORPHA:330021
Familial Cerebral Saccular Aneurysm
Subarachnoid hemorrhage, Transient ischemic attack, Hypertension, Intracranial hemorrhage ORPHA:231160
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Pu... ORPHA:567546
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Hypertension OMIM:615954
Neuroblastoma, Susceptibility To, 1
Elevated urinary dopamine level, Elevated urinary homovanillic acid, Elevated urinary vanillylman... OMIM:256700
Ectopic Aldosterone-Producing Tumor
Epistaxis, Hypertension, Renal cortical adenoma ORPHA:231632
Porphyria, Acute Intermittent
Urinary retention, Dysuria, Elevated urinary delta-aminolevulinic acid, Urinary incontinence, Tac... OMIM:176000
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine level, Sinus tachycardia, Elevated urinary norepinephrine level, Conges... ORPHA:276621
Senior-Boichis Syndrome
Chronic kidney disease, Renal hypoplasia, Abnormal urinary electrolyte concentration, Hyperechoge... ORPHA:84081
Familial Hyperaldosteronism Type Ii
Epistaxis, Intracranial hemorrhage, Hypertension ORPHA:404
Pituitary Adenoma 1, Multiple Types
Hypertension, Cardiomyopathy OMIM:102200
Simple Cryoglobulinemia
Vasculitis, Gastrointestinal hemorrhage, Nephritis, Congestive heart failure, Renal insufficiency... ORPHA:91139
Primary Unilateral Adrenal Hyperplasia
Epistaxis, Palpitations, Hypertension, Increased urinary potassium ORPHA:231580
Familial Hyperaldosteronism Type I
Epistaxis, Intracranial hemorrhage, Hypertension ORPHA:403
Abdominal Obesity-Metabolic Syndrome 4
Hypertension, Myocardial infarction OMIM:618620
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Hypertension, Dilated cardiomyopathy, Ischemic stroke, Cerebral hemorrhage ORPHA:280679
Tetanus
Elevated urinary norepinephrine level, Bradycardia, Tachycardia, Elevated urinary epinephrine lev... ORPHA:3299
Birk-Landau-Perez Syndrome
Renal hypoplasia, Hyperechogenic kidneys, Stage 3 chronic kidney disease, Renal insufficiency, Tu... OMIM:617595
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, ST segment depression, H... ORPHA:90065
Familial Pseudohyperkalemia
Hypertension ORPHA:90044
Apparent Mineralocorticoid Excess
Hypertension OMIM:218030
Isolated Ectopia Lentis
Hypertension ORPHA:1885
Lipodystrophy, Familial Partial, Type 6
Hypertension OMIM:615980
Lipodystrophy, Familial Partial, Type 5
Hypertension OMIM:615238
Igg4-Related Retroperitoneal Fibrosis
Acute kidney injury, Budd-Chiari syndrome, Dysuria, Large vessel vasculitis, Unilateral renal hyp... ORPHA:49041
Cutis Marmorata Telangiectatica Congenita
Telangiectasia, Hypertension OMIM:219250
Eosinophilic Granulomatosis With Polyangiitis
Vasculitis, Congestive heart failure, Hypertrophic cardiomyopathy, Transient ischemic attack, Ren... ORPHA:183
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Second degree atrioventricular block, Nephrolithiasis, Pulmonary arterial hypertension... ORPHA:369929
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ... OMIM:194080
Cirrhosis, Familial
Increased level of L-fucose in urine, Pulmonary arterial hypertension, Hypertension OMIM:215600
Glucocorticoid Resistance, Generalized
Hypertension OMIM:615962
Coach Syndrome 1
Unilateral renal agenesis, Nephronophthisis, Multiple small medullary renal cysts, Stage 5 chroni... OMIM:216360
Paroxysmal Hemicrania
Hypertension ORPHA:157835
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Hypertension, Anuria, Hemolytic-uremic syndrome OMIM:235400
Alopecia Universalis
Hypertension ORPHA:701
Juvenile Paget Disease
Hypertension ORPHA:2801
Riboflavin Transporter Deficiency
Hypertension ORPHA:97229
Pseudohypoaldosteronism, Type Iic
Hypertension OMIM:614492
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Hematuria, Pulmonary arterial hypertension, Second degree atrioventricular block OMIM:617021
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Hematuria, Glomerulonephritis, Tubulointerstitial nephritis, Tachycardia,... ORPHA:340
Hereditary Pheochromocytoma-Paraganglioma
Elevated urinary dopamine level, Sinus tachycardia, Elevated urinary norepinephrine level, Conges... ORPHA:29072
Diffuse Cutaneous Systemic Sclerosis
Hypertensive crisis, Oliguria, Congestive heart failure, Renal insufficiency, Telangiectasia of t... ORPHA:220393
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypertension, Pulmonary arterial hypertension, Second degree atrioventricular block, Nephrolithiasis OMIM:615474
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypocalciuria, Enuresis, Renal sodium wasting, Polyuria, Renal salt wasting, Hypertension, Renal ... OMIM:612780
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Congestive he... ORPHA:1830
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Congestive heart failure, Renal artery stenosis, Hypertension, Myocardial... OMIM:208000
Ethylene Glycol Poisoning
Hypotension, Congestive heart failure, Shock, Renal insufficiency, Renal tubular dysfunction, Hem... ORPHA:31826
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:605373
Porphyria Variegata
Chronic kidney disease, Elevated urinary delta-aminolevulinic acid, Increased urinary porphobilin... ORPHA:79473
Paternal Uniparental Disomy Of Chromosome 1
Proteinuria, Membranoproliferative glomerulonephritis, Macroscopic hematuria, Hypertension, Enlar... ORPHA:251004
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Nephropathy, Gastrointestinal hemorrhage, Cardiomyopathy, Punctate vasculitis skin lesions, Telan... ORPHA:247691
Aicardi-Goutieres Syndrome 9
Thickened glomerular basement membrane, Recurrent urinary tract infections, Hyperechogenic kidney... OMIM:619487
Hypomagnesemia 3, Renal
Chronic kidney disease, Hematuria, Macroscopic hematuria, Renal magnesium wasting, Sterile pyuria... OMIM:248250
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Transient ischemic attack, Cerebral ischemia, Renal insuffici... OMIM:242900
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Glomerular sclerosis, Orthostatic hypotension, Tachycardia, Hypertension, Abnormal renal physiology OMIM:223900
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertension ORPHA:363400
Methylcobalamin Deficiency Type Cble
Glomerulopathy, Hypertension, Hemolytic-uremic syndrome ORPHA:2169
Developmental And Epileptic Encephalopathy 111
Premature ventricular contraction, Hypertension, Sinus tachycardia, Nephrolithiasis OMIM:620504
Primary Progressive Freezing Gait
Urinary incontinence, Hypertension ORPHA:75567
Sickle Cell Disease
Hematuria, Hypertension, Renal insufficiency OMIM:603903
Cocaine Intoxication
Diffuse alveolar hemorrhage, Hypotension, Acute kidney injury, Prolonged QRS complex, Ischemic st... ORPHA:90068
Serotonin Syndrome
Acute kidney injury, Tachycardia, Hypotension, Hypertension ORPHA:43116
Gaucher Disease, Type I
Aortic valve stenosis, Epistaxis, Mitral regurgitation, Pulmonary arterial hypertension, Hyperten... OMIM:230800
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei... OMIM:232200
Primary Hyperoxaluria Type 3
Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo... ORPHA:93600
Acute Intermittent Porphyria
Urinary retention, Dysuria, Dark urine, Increased urinary porphobilinogen, Renal insufficiency, E... ORPHA:79276
Stiff-Person Syndrome
Tachycardia, Hypertension OMIM:184850
Morgagni-Stewart-Morel Syndrome
Hypertension ORPHA:77296
Extracranial Carotid Artery Aneurysm
Vasculitis, Arteritis, Cerebral ischemia, Subarachnoid hemorrhage, Hypertension ORPHA:494424
Glycogen Storage Disease Ic
Focal segmental glomerulosclerosis, Spider hemangioma, Decreased glomerular filtration rate, Rena... OMIM:232240
Familial Dysautonomia
Renal insufficiency, Glomerulopathy, Orthostatic hypotension, Abnormality of the kidney, Tachycar... ORPHA:1764
Hereditary Renal Hypouricemia
Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, Uric acid urol... ORPHA:94088
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Renal hypoplasia, Hypertension, Absence of renal corticomedullary differentiation OMIM:619758
Infant Botulism
Cardiac arrest, Hypotension, Hypertension ORPHA:178478
Fabry Disease
Nephropathy, Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Bundl... ORPHA:324
Pheochromocytoma/Paraganglioma Syndrome 4
Palpitations, Hypertension associated with pheochromocytoma, Elevated urinary catecholamine level... OMIM:115310
Pigmented Nodular Adrenocortical Disease, Primary, 4
Hypertension OMIM:615830
Lipodystrophy, Familial Partial, Type 3
Hypertension OMIM:604367
Abdominal Obesity-Metabolic Syndrome 3
Hypertension, Myocardial infarction OMIM:615812
Pheochromocytoma/Paraganglioma Syndrome 1
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:168000
Monosomy 18P
Hypertension ORPHA:1598
Arima Syndrome
Nephronophthisis, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, Hypertension, ... OMIM:243910
Overlap Myositis
Pulmonary arterial hypertension, Hypertension, Raynaud phenomenon, Abnormality of the kidney ORPHA:206572
Alagille Syndrome
Abnormality of the ureter, Renal hypoplasia/aplasia, Telangiectasia of the skin, Nephrotic syndro... ORPHA:52
Adrenocortical Carcinoma
Increased urinary cortisol level, Abnormality of urine homeostasis, Palpitations, Hypertension ORPHA:1501
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Pulmonary arterial hypertension, Hypertension OMIM:613320
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Nephrocalcinosis, Angina pectoris, Telan... ORPHA:758
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Hypertension OMIM:617763
Galloway-Mowat Syndrome 3
Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis, Glomerular sclerosis, N... OMIM:617729
Wagro Syndrome
Proteinuria, Hypertension, Nephroblastoma OMIM:612469
Scalp-Ear-Nipple Syndrome
Duplication of renal pelvis, Recurrent urinary tract infections, Pyelonephritis, Abnormality of t... ORPHA:2036
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Dilated cardiomyopathy, Hypertension, Cerebral hemorrhage OMIM:300845
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei... OMIM:232220
Polycythemia Vera
Epistaxis, Gastrointestinal hemorrhage, Pulmonary embolism, Budd-Chiari syndrome, Portal hyperten... ORPHA:729
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Hypertension OMIM:610489
Lead Poisoning
Chronic kidney disease, Hypertension, Tubulointerstitial nephritis, Renal tubular dysfunction ORPHA:330015
Neuroleptic Malignant Syndrome
Hypertensive crisis, Hypotension, Acute kidney injury, Pulmonary embolism, Proteinuria, Arrhythmi... ORPHA:94093
Spondyloenchondrodysplasia
Chronic kidney disease, Vasculitis, Hematuria, Proteinuria, Raynaud phenomenon, Hypertension ORPHA:1855
Joubert Syndrome 14
Renal cyst, Intracranial hemorrhage, Hypertension OMIM:614424
Pediatric-Onset Graves Disease
Sinus tachycardia, Congestive heart failure, Palpitations, Atrial fibrillation, Hypertension ORPHA:525731
Pparg-Related Familial Partial Lipodystrophy
Hypertrophic cardiomyopathy, Hypertension, Congestive heart failure ORPHA:79083
Acth-Independent Macronodular Adrenal Hyperplasia
Hypertension OMIM:219080
Pigmented Nodular Adrenocortical Disease, Primary, 2
Hypertension OMIM:610475
Acquired Generalized Lipodystrophy
Proteinuria, Abnormal cardiovascular system physiology, Hypertension, Cardiomyopathy ORPHA:79086
Xfe Progeroid Syndrome
Proteinuria, Hypertension, Renal insufficiency OMIM:610965
Aortic Arch Interruption
Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Shock, Blood pressure su... ORPHA:2299
Pituitary Adenoma 4, Acth-Secreting
Hypertension, Nephrolithiasis OMIM:219090
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Acute kidney injury, Pulmonary embolism, Glycosuria, Budd-Chiari syndrome... ORPHA:447
Granulomatosis With Polyangiitis
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Ureteral stenosis, Cerebral ischemia, Renal i... ORPHA:900
Fragile X-Associated Tremor/Ataxia Syndrome
Pollakisuria, Hypotension, Hypertension, Urinary bladder sphincter dysfunction ORPHA:93256
Neuroblastoma
Elevated urinary homovanillic acid, Hypertension, Elevated urinary vanillylmandelic acid, Elevate... ORPHA:635
Beta-Ketothiolase Deficiency
Hypotension, Hypertension, Ketonuria ORPHA:134
Scorpion Envenomation
Acute kidney injury, Cardiogenic shock, Prominent U wave, Glycosuria, Ketonuria, Congestive heart... ORPHA:466677
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy, 3-Methylglutaconic aciduria, Hypertension, Arrhythmia, Hypospadias OMIM:614052
Werner Syndrome
Congestive heart failure, Telangiectasia of the skin, Renal neoplasm, Hypertension, Myocardial in... ORPHA:902
Gaisböck Syndrome
Nephrocalcinosis, Hypernatriuria, Elevated diastolic blood pressure, Angina pectoris, Hypertensio... ORPHA:90041
Von Hippel-Lindau Disease
Cardiomyopathy, Palpitations, Elevated urinary catecholamine level, Arrhythmia, Multiple renal cy... ORPHA:892
Von Hippel-Lindau Syndrome
Multiple renal cysts, Hypertension, Renal cell carcinoma OMIM:193300
Aorta Coarctation
Pulmonary arterial hypertension, Hypertension, Congestive heart failure ORPHA:1457
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased urinary 11-deoxycorticosterone level, Long penis, Renal salt wasting, Intracranial hemo... ORPHA:90795
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Hydronephrosis, Hyperte... OMIM:617913
Seckel Syndrome 10
Hypertension, Glycosuria, Congestive heart failure OMIM:617253
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Hypertension, Renal cell carcinoma, Nephrolithiasis ORPHA:189427
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Anuria, Hemoglobinuria, Hypertension, Myocardial infarction ORPHA:90038
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Arrhythmia, Hypertension ORPHA:139411
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Congestive heart failure, Papillary renal cell carcinoma, Mitral regurgita... ORPHA:363618
Familial Bicuspid Aortic Valve
Aortic valve stenosis, Heart murmur, Aortic regurgitation, Hypertension ORPHA:402075
Acute Interstitial Pneumonia
Hypertension ORPHA:79126
Pierson Syndrome
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis,... OMIM:609049
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrioventricular block, Hypertension ORPHA:371428
Cockayne Syndrome Type 1
Proteinuria, Hypertension, Renal insufficiency ORPHA:90321
Infection-Related Hemolytic Uremic Syndrome
Hypertensive crisis, Acute kidney injury, Oliguria, Anuria, Decreased urine output, Myocarditis, ... ORPHA:544482
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hypertension ORPHA:449291
Low Phospholipid-Associated Cholelithiasis
Hypertension ORPHA:69663
Tuberous Sclerosis Complex
Chronic kidney disease, Stage 5 chronic kidney disease, Renal insufficiency, Renal angiomyolipoma... ORPHA:805
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Gastrointestinal hemorrhage, Oliguria, Recurrent urinary tract infections, R... ORPHA:731
Poliomyelitis
Hypovolemic shock, Hypotension, Hypertension ORPHA:2912
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Tachycardia, Hypertension, Bradycardia OMIM:614653
Autosomal Dominant Dopa-Responsive Dystonia
Hypertension ORPHA:98808
Carey-Fineman-Ziter Syndrome
Glandular hypospadias, Hypertensive crisis, Hydronephrosis ORPHA:1358
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Telangiectasia of ... ORPHA:3342
Smooth Muscle Dysfunction Syndrome
Pulmonary arterial hypertension, Hypertension OMIM:613834
Crimean-Congo Hemorrhagic Fever
Hematuria, Tachycardia, Diffuse alveolar hemorrhage, Bundle branch block, Hemothorax, Hemoperiton... ORPHA:99827
Arterial Tortuosity Syndrome
Aortic valve stenosis, Aortic regurgitation, Ischemic stroke, Telangiectases of the cheeks, Hyper... OMIM:208050
Postinfectious Vasculitis
Cardiomyopathy, Cerebral vasculitis, Ischemic stroke, Hematuria, Proteinuria, Raynaud phenomenon,... ORPHA:48435
Hurler Syndrome
Angina pectoris, Mucopolysacchariduria, Hypertension, Cardiomyopathy ORPHA:93473
Alstrom Syndrome
Nephritis, Dilated cardiomyopathy, Congestive heart failure, Renal insufficiency, Tubulointerstit... OMIM:203800
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Transient ischemic attack, Ischemic stroke, Subarachnoid hemorrhage, Abnorm... ORPHA:91387
Alkaptonuria
Aortic valve stenosis, Aminoaciduria, Elevated urinary homogentisic acid, Dark urine, Mitral regu... ORPHA:56
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hypertension ORPHA:1555
Nestor-Guillermo Progeria Syndrome
Sinus tachycardia, Mitral regurgitation, Right bundle branch block, Pulmonary arterial hypertensi... OMIM:614008
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Epistaxis, Nephrocalcinosis, Stage 5 chronic kidney disease, Pulmonary venous hypertension, Nephr... ORPHA:79259
Combined Oxidative Phosphorylation Deficiency 15
Hypertension, Wolff-Parkinson-White syndrome, Shortened PR interval OMIM:614947
Livedoid Vasculopathy
Telangiectasia of the skin, Ischemic stroke, Hypertension ORPHA:542643
Telangiectasia, Hereditary Hemorrhagic, Type 2
Nasal mucosa telangiectasia, Facial telangiectasia, Cerebral hemorrhage, Fingerpad telangiectases... OMIM:600376
Nelson Syndrome
Increased urinary cortisol level, Intracranial hemorrhage, Hypertension ORPHA:199244
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Micropenis, Hypospadias, Hypertension, Increased urinary 11-deoxycorticosterone level ORPHA:90793
Au-Kline Syndrome
Chronic kidney disease, Dilatation of the renal pelvis, Vesicoureteral reflux, Hydronephrosis, Hy... OMIM:616580
Pituitary Apoplexy
Hypotension, Hypertension ORPHA:95613
Scalp-Ear-Nipple Syndrome
Unilateral renal agenesis, Renal hypoplasia, Congestive heart failure, Pyelonephritis, Supraventr... OMIM:181270
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Long penis, Hypertension OMIM:202010
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hypertension OMIM:616914
Systemic Lupus Erythematosus
Hematuria, Proteinuria, Lupus nephritis, Raynaud phenomenon, Hypertension, Pyuria ORPHA:536
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Gastrointestinal hemorrhage, Pulmonary embolism, Cerebral ischemia, Intracranial hemorrhage, Hype... ORPHA:394
Multiple Endocrine Neoplasia Type 2
Hypertensive crisis, Elevated urinary norepinephrine level, Palpitations, Hypertension associated... ORPHA:653
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Hypertension ORPHA:786
Beare-Stevenson Cutis Gyrata Syndrome
Hypospadias, Hypertension OMIM:123790
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Acute kidney injury, Nephronophthisis, Stage 5 chronic kidney disease, Reduced renal corticomedul... OMIM:266920
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Vasculitis, Dilated cardiomyopathy, Portal hypertension, Raynaud phenomenon, Renal artery aneurys... OMIM:615688
Bardet-Biedl Syndrome 1
Micropenis, Hypertension, Abnormality of the kidney OMIM:209900
Acute Transverse Myelitis
Urinary retention, Urinary bladder sphincter dysfunction, Subarachnoid hemorrhage, Orthostatic hy... ORPHA:139417
Alexander Disease
Hypertension, Hypotension, Sudden cardiac death ORPHA:58
Hardikar Syndrome
Hypoplasia of the bladder, Hydroureter, Recurrent urinary tract infections, Pyelonephritis, Renal... OMIM:301068
Apert Syndrome
Hypertension ORPHA:87
Aicardi-Goutieres Syndrome 7
Vasculitis, Hematochezia, Hypertrophic cardiomyopathy, Hematemesis, Nephrotic syndrome, Hypertension OMIM:615846
Myhre Syndrome
Abnormal penis morphology, Hypospadias, Hypertension, Epispadias ORPHA:2588
Homozygous Familial Hypercholesterolemia
Renal artery stenosis, Supravalvular aortic stenosis, Mitral regurgitation, Hypertension, Angina ... ORPHA:391665
Hunter-Macdonald Syndrome
Aortic regurgitation, Hypospadias, Hypertension, Mitral regurgitation OMIM:611962
Xq21 Microdeletion Syndrome
Renal artery stenosis, Hypertension ORPHA:1435
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Hydronephrosis, Hypertension ORPHA:2750
Blau Syndrome
Hypertension, Pericarditis OMIM:186580
Blau Syndrome
Nephropathy, Large vessel vasculitis, Stage 5 chronic kidney disease, Clear cell renal cell carci... ORPHA:90340
Hallermann-Streiff Syndrome
Telangiectasia, Pulmonary arterial hypertension, Hypertension OMIM:234100
Cockayne Syndrome
Urinary incontinence, Renal hypoplasia, Unilateral renal agenesis, Renal insufficiency, Proteinur... ORPHA:191
Cockayne Syndrome B
Renal insufficiency, Proteinuria, Arrhythmia, Micropenis, Hypertension OMIM:133540
Cockayne Syndrome A
Renal insufficiency, Proteinuria, Arrhythmia, Micropenis, Hypertension OMIM:216400
Familial Osteodysplasia, Anderson Type
Hypertension ORPHA:2769
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
Orofaciodigital Syndrome I
Proteinuria, Polycystic kidney dysplasia, Hypertension OMIM:311200
Prader-Willi Syndrome
Hypertension ORPHA:739
Smith-Lemli-Opitz Syndrome
Hypospadias, Renal hypoplasia, Unilateral renal agenesis, Renal agenesis, Hypertrophic cardiomyop... OMIM:270400
Mucopolysaccharidosis Type 2, Severe Form
Cardiomyopathy, Heparan sulfate excretion in urine, Arrhythmia, Dermatan sulfate excretion in uri... ORPHA:217085
Lipodystrophy, Familial Partial, Type 2
Hypertension OMIM:151660
Williams Syndrome
Mitral regurgitation, Hypertrophic cardiomyopathy, Renal insufficiency, Renal duplication, Multip... ORPHA:904
Mucopolysaccharidosis Type 2, Attenuated Form
Cardiomyopathy, Heparan sulfate excretion in urine, Arrhythmia, Dermatan sulfate excretion in uri... ORPHA:217093
Pseudohypoparathyroidism Type 1A
Prolonged QT interval, Low urinary cyclic AMP response to PTH administration, Hypertension ORPHA:79443
Tsh-Secreting Pituitary Adenoma
Hypotension, Congestive heart failure, Palpitations, Supraventricular arrhythmia, Ventricular arr... ORPHA:91347
Marshall-Smith Syndrome
Premature ventricular contraction, Pulmonary arterial hypertension, Hypertension OMIM:602535
Bardet-Biedl Syndrome
Chronic kidney disease, Cardiomyopathy, Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis, ... ORPHA:110
Cranioectodermal Dysplasia 2
Renal cyst, Hypertension, Renal insufficiency OMIM:613610
Williams-Beuren Syndrome
Renal hypoplasia, Enuresis, Nephrocalcinosis, Recurrent urinary tract infections, Renal artery st... OMIM:194050
Acromegaly
Long penis, Hypertrophic cardiomyopathy, Dysuria, Wide penis, Mitral regurgitation, Hypertension ORPHA:963
Immunodeficiency 87 And Autoimmunity
Pulmonary arterial hypertension, Hypertension, Third degree atrioventricular block, Dilated cardi... OMIM:619573
Neurofibromatosis, Type I
Renal artery stenosis, Hypertension OMIM:162200
Lipodystrophy, Familial Partial, Type 7
Pulmonary arterial hypertension, Hypertension, Orthostatic hypotension, Polyuria OMIM:606721
Congenital Disorder Of Glycosylation, Type Iim
Hypertension, Vesicovaginal fistula, Ureteropelvic junction obstruction OMIM:300896
Adams-Oliver Syndrome 1
Aortic valve stenosis, Pulmonary arterial hypertension, Hypertension, Pulmonic stenosis OMIM:100300
Cushing Disease
Increased urinary cortisol level, Capillary fragility, Hypertension, Myocardial infarction ORPHA:96253
Hutchinson-Gilford Progeria Syndrome
Aortic valve stenosis, Aortic regurgitation, Transient ischemic attack, Left ventricular systolic... ORPHA:740
Somatomammotropinoma
Hypertrophic cardiomyopathy, Hypertension, Mitral regurgitation, Dysuria ORPHA:314769
Multiple Endocrine Neoplasia Type 1
Shortened QT interval, Nephrolithiasis, Hypercalciuria, Hematemesis, Melena, Hypertension ORPHA:652
Yunis-Varon Syndrome
Cardiomyopathy, Renal artery stenosis, Hypertension, Pulmonary arterial hypertension, Micropenis,... ORPHA:3472
Mucopolysaccharidosis Type 2
Arrhythmia, Hypertension, Cardiomyopathy ORPHA:580
Myhre Syndrome
Aortic valve stenosis, Hypertension OMIM:139210
Generalized Arterial Calcification Of Infancy
Nephrocalcinosis, Cortical nephrocalcinosis, Transient ischemic attack, Left ventricular systolic... ORPHA:51608
Turner Syndrome Due To Structural X Chromosome Anomalies
Horseshoe kidney, Renal hypoplasia/aplasia, High urinary gonadotropin level, Ectopic kidney, Prol... ORPHA:99413
Turner Syndrome
Horseshoe kidney, Renal hypoplasia/aplasia, High urinary gonadotropin level, Ectopic kidney, Prol... ORPHA:881
Mosaic Monosomy X
Horseshoe kidney, Renal hypoplasia/aplasia, High urinary gonadotropin level, Ectopic kidney, Prol... ORPHA:99228
Monosomy X
Horseshoe kidney, Renal hypoplasia/aplasia, High urinary gonadotropin level, Ectopic kidney, Prol... ORPHA:99226
Atypical Werner Syndrome
Aortic valve stenosis, Glycosuria, Congestive heart failure, Telangiectasia of the skin, Renal ne... ORPHA:79474
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Ketonuria, Hypertrophic cardiomyopathy, Mitral regurgitation, Hypertension, Hypospadias OMIM:220111
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Renal hypoplasia, Hypertension, Renal cyst, Micropenis, Polycystic kidney dysplasia OMIM:210710
22Q11.2 Deletion Syndrome
Hypertensive crisis, Gastrointestinal hemorrhage, Renal hypoplasia, Vesicoureteral reflux, Cornea... ORPHA:567
Keutel Syndrome
Hypertension, Pulmonic stenosis OMIM:245150
Neurofibromatosis Type 1
Abnormality of the upper urinary tract, Hypertension ORPHA:636
17Q11 Microdeletion Syndrome
Hypertrophic cardiomyopathy, Renal artery stenosis, Pulmonary arterial hypertension, Telangiectas... ORPHA:97685
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal agenesis, Corneal neovascularizati... OMIM:308205
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Vesicovaginal fistula, Horseshoe kidney, Hypertension, Chordee, Micropenis, Hypospadias OMIM:201750
Cushing Syndrome Due To Ectopic Acth Secretion
Increased urinary cortisol level, Capillary fragility, Hypertension, Myocardial infarction ORPHA:99889
Vascular Ehlers-Danlos Syndrome
Hypospadias, Transient ischemic attack, Cystocele, Bladder diverticulum, Telangiectasia of the sk... ORPHA:286
Alström Syndrome
Chronic kidney disease, Detrusor sphincter dyssynergia, Dilated cardiomyopathy, Functional abnorm... ORPHA:64
Carney Complex
Hypertension, 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 Map3k15

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 Map3k15.

No publications found that use IMPC mice or data for Map3k15.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Map3k15tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Map3k15tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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