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Gene: Stox1 MGI:2684909

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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:
storkhead box 1
Synonyms:
4732470K04Rik

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 Stox1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Stox1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Preeclampsia
Chronic kidney disease, Elevated systolic blood pressure, Acute kidney injury, Elevated diastolic... ORPHA:275555
Preeclampsia/Eclampsia 4
OMIM:609404

The table below shows human diseases predicted to be associated to Stox1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Polycystic Kidney Disease 7
Multiple renal cysts, Stage 5 chronic kidney disease, Hypertension, Renal insufficiency OMIM:620056
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote... OMIM:603965
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
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria, Hypertension ORPHA:2820
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Preeclampsia/Eclampsia 1
Proteinuria, Hypertension OMIM:189800
Nail-Patella-Like Renal Disease
Proteinuria, Microscopic hematuria, Hypertension, Renal insufficiency ORPHA:2613
Lessel-Kubisch Syndrome
Hypogonadism, Renal hypoplasia, Hypertension, Renal insufficiency OMIM:618681
Renal Failure, Progressive, With Hypertension
Nephritis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Microscopic hematuri... OMIM:161900
Glomerulopathy With Fibronectin Deposits 2
Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Hypertension, Nephrotic syndrom... OMIM:601894
Glomerulopathy With Fibronectin Deposits 1
Nephropathy, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Microscopic hematu... OMIM:137950
Iga Nephropathy, Susceptibility To, 2
Nephritis, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Hypertension OMIM:613944
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,... ORPHA:54370
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Reduced renal corticomedullary differentiation, Hypertension, Pol... OMIM:617610
Iga Nephropathy, Susceptibility To, 3
Proteinuria, Hematuria, Stage 5 chronic kidney disease, Hypertension OMIM:616818
Senior-Loken Syndrome
Chronic kidney disease, Nephronophthisis, Stage 5 chronic kidney disease, Premature ovarian insuf... ORPHA:3156
Morbid Obesity And Spermatogenic Failure
Congestive heart failure, Azoospermia, Oligozoospermia, Infertility, Hypertension, Myocardial inf... OMIM:615703
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension OMIM:166990
Trimethylaminuria
Tachycardia, Trimethylaminuria, Hypertension OMIM:602079
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2
Lacunar stroke, Transient ischemic attack, Hypertension OMIM:616779
Coronary Artery Disease, Autosomal Dominant, 1
Hypertension, Myocardial infarction OMIM:608320
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia, Hypertension ORPHA:2111
Iga Nephropathy, Susceptibility To, 1
Nephritis, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Hypertension OMIM:161950
Coronary Artery Disease, Autosomal Dominant 2
Sudden cardiac death, Hypertension, Myocardial infarction OMIM:610947
Cardiomyopathy, Familial Hypertrophic, 30, Atrial
Atrial fibrillation, Reduced left ventricular ejection fraction, Atrial flutter, Hypertension OMIM:620734
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Reduced renal corticomedullar... OMIM:603278
Pheochromocytoma/Paraganglioma Syndrome 6
Hypertension OMIM:618464
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Renal insufficiency, Proteinuria, Microscopic hematuria, Glomerulonephritis,... ORPHA:567544
Liddle Syndrome
Nephropathy, Cerebral ischemia, Renal insufficiency, Arrhythmia, Hypertension ORPHA:526
Melorheostosis With Osteopoikilosis
Hypertension ORPHA:1879
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart... ORPHA:3193
Fibronectin Glomerulopathy
Renal insufficiency, Proteinuria, Hypertension, Cerebral hemorrhage, Nephrotic syndrome, Microsco... ORPHA:84090
Coproporphyria, Hereditary
Elevated urinary coproporphyrin level, Elevated urinary delta-aminolevulinic acid, Increased urin... OMIM:121300
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Frasier Syndrome
Focal segmental glomerulosclerosis, Streak ovary, Renal insufficiency, Proteinuria, Primary ameno... ORPHA:347
Hypertension And Brachydactyly Syndrome
Hypertension OMIM:112410
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythmia, Hypertension ORPHA:1345
Narcolepsy Type 1
Male sexual dysfunction, Female sexual dysfunction, Syncope, Nocturia, Hypertension ORPHA:2073
Moyamoya Disease 6 With Or Without Achalasia
Impotence, Ischemic stroke, Hypertension, Raynaud phenomenon OMIM:615750
Plin1-Related Familial Partial Lipodystrophy
Infertility, Oligomenorrhea, Hypertension ORPHA:280356
Amyloidosis, Hereditary Systemic 2
Nephropathy, Proteinuria, Hematuria, Nephrotic syndrome, Hypertension OMIM:105200
Arterial Calcification, Generalized, Of Infancy, 2
Nephrocalcinosis, Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regur... OMIM:614473
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Hypertension, Telangiectases producing 'marbled' skin OMIM:206570
Aapoaiv Amyloidosis
Chronic kidney disease, Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosi... ORPHA:439232
C3 Glomerulopathy
Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Hematuria, Proteinur... ORPHA:329918
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Arrhythmia, Wolff-Parkinson-White syndrome, Abnormal left ventricular f... OMIM:540000
Lipodystrophy, Familial Partial, Type 4
Oligomenorrhea, Hypertension OMIM:613877
Sneddon Syndrome
Nephropathy, Intracranial hemorrhage, Hypertension ORPHA:820
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Arrhythmia, Hypertension, Cardiomyopathy ORPHA:3222
Familial Cervical Artery Dissection
Transient ischemic attack, Cerebral ischemia, Subarachnoid hemorrhage, Recurrent cerebral hemorrh... ORPHA:36382
Potocki-Shaffer Syndrome
Micropenis, Hypertension ORPHA:52022
Denys-Drash Syndrome
Nephropathy, Proteinuria, Nephrotic syndrome, Hypertension ORPHA:220
Adenine Phosphoribosyltransferase Deficiency
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Dysuria, Urinary hesita... ORPHA:976
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hypert... OMIM:618061
Nephronophthisis 18
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis, Hypertension OMIM:615862
Moyamoya Disease With Early-Onset Achalasia
Hypertension, Raynaud phenomenon ORPHA:401945
Nephronophthisis 2
Nephronophthisis, Stage 5 chronic kidney disease, Absence of renal corticomedullary differentiati... OMIM:602088
Ochoa Syndrome
Urethral obstruction, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Urinary inconti... ORPHA:2704
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Nephrotic syndrome, Hypertension, Proteinuria ORPHA:1192
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension OMIM:615378
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hypertension OMIM:600666
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hypertension, Mitral regurgitation, Renal insufficiency OMIM:173900
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Azoospermia, Ischemic stroke, Cerebral hemorrhage, Hypertension, Hypergon... ORPHA:280679
Preeclampsia
Chronic kidney disease, Elevated systolic blood pressure, Acute kidney injury, Elevated diastolic... ORPHA:275555
Glucocorticoid Resistance, Generalized
Irregular menstruation, Infertility, Hypertension OMIM:615962
Tako-Tsubo Cardiomyopathy
Atrial fibrillation, Hypotension, Cardiogenic shock, Prolonged QTc interval, Palpitations, Mitral... ORPHA:66529
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti... ORPHA:563
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Hypertension, Primary amenorrhea OMIM:202110
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Hypotension, Impaired renal uric acid clearance, Renal hypoplasia, Decreased glomerular filtratio... OMIM:174000
Grange Syndrome
Aortic regurgitation, Hypertension ORPHA:79094
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Abnormality of the ureter, Vesicoureteral refl... ORPHA:93101
Coenzyme Q10 Deficiency, Primary, 8
Hypertension, Abnormal renal corticomedullary differentiation OMIM:616733
Non-Functioning Paraganglioma
Elevated urinary dopamine level, Sinus tachycardia, Elevated urinary norepinephrine level, Conges... ORPHA:94080
Alagille Syndrome 2
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Proteinuria, Renal cyst, Hematuria... OMIM:610205
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, Tubulointerstitial fibros... OMIM:618913
Multicentric Carpotarsal Osteolysis Syndrome
Proteinuria, Stage 5 chronic kidney disease, Hypertension, Renal insufficiency OMIM:166300
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertension ORPHA:71529
Takayasu Arteritis
Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Cerebral ischemia, Pulmonary arteri... ORPHA:3287
Pheochromocytoma--Islet Cell Tumor Syndrome
Elevated urinary norepinephrine level, Congestive heart failure, Positive regitine blocking test,... OMIM:171420
Pituitary Adenoma 1, Multiple Types
Irregular menstruation, Hypertension, Cardiomyopathy OMIM:102200
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Ischemic stroke, Cerebral ischemia, Stress urinary incontinence, Cereb... ORPHA:136
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hypertension, Congestive heart failure ORPHA:1349
Nephronophthisis 1
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia... OMIM:256100
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypospadias, Renal salt wasting, Hypertension OMIM:201910
Familial Partial Lipodystrophy, Köbberling Type
Hypertension ORPHA:79084
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Proteinuria, Hematuria, Hypertension, Abnormal renal physiology OMIM:123550
Pparg-Related Familial Partial Lipodystrophy
Congestive heart failure, Hypertrophic cardiomyopathy, Dysmenorrhea, Oligomenorrhea, Primary amen... ORPHA:79083
Riboflavin Transporter Deficiency
Hypogonadism, Hypertension ORPHA:97229
Renal Hypodysplasia/Aplasia 1
Proteinuria, Hypertension, Primary amenorrhea OMIM:191830
Hyperaldosteronism, Familial, Type Ii
Hypertension OMIM:605635
Lipodystrophy, Familial Partial, Type 5
Irregular menstruation, Hypertension OMIM:615238
Methanol Poisoning
Inflammatory arteriopathy, Permanent atrial fibrillation, Cerebral hemorrhage, Intracranial hemor... ORPHA:31825
Corticosteroid-Binding Globulin Deficiency
Hypotension, Hypertension, Decreased urinary potassium OMIM:611489
Coach Syndrome 1
Unilateral renal agenesis, Nephronophthisis, Occipital encephalocele, Multiple small medullary re... OMIM:216360
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi... OMIM:264800
Pheochromocytoma
Elevated urinary norepinephrine level, Congestive heart failure, Positive regitine blocking test,... OMIM:171300
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Micropenis, Tachycardia, Hypertension OMIM:613870
Rhabdoid Tumor
Hematuria, Hypertension, Internal hemorrhage ORPHA:69077
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension OMIM:616069
Lipodystrophy, Familial Partial, Type 3
Oligomenorrhea, Hypertension, Primary amenorrhea OMIM:604367
Glutaric Aciduria Iii
Glutaric aciduria, Hypertension OMIM:231690
Lead Poisoning
Chronic kidney disease, Decreased male libido, Abnormality of the menstrual cycle, Decreased fema... ORPHA:330015
Sneddon Syndrome
Ischemic stroke, Hypertension, Cerebral hemorrhage OMIM:182410
Stiff Skin Syndrome
Hypertension, Nephrolithiasis ORPHA:2833
Developmental And Epileptic Encephalopathy 111
Sinus tachycardia, Umbilical hernia, Nephrolithiasis, Premature ventricular contraction, Hyperten... OMIM:620504
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Gastrointestinal hemorrhage, Abnormal urinary electrolyte concentration, Congestive ... ORPHA:85450
Posterior Urethral Valve
Chronic kidney disease, Enuresis nocturna, Urinary retention, Dysuria, Pyelonephritis, Stage 5 ch... ORPHA:93110
Systemic Lupus Erythematosus 17
Raynaud phenomenon, Hypertensive crisis, Mitral regurgitation OMIM:301080
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Renal hypoplasia, Hypertension, Absence of renal corticomedullary differentiation, Umbilical hernia OMIM:619758
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Decreased glomerular filtrati... ORPHA:730
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine level, Sinus tachycardia, Elevated urinary norepinephrine level, Conges... ORPHA:276621
Oligomeganephronia
Unilateral renal agenesis, Branchial cyst, Bilateral renal hypoplasia, Decreased glomerular filtr... ORPHA:2260
Igg4-Related Retroperitoneal Fibrosis
Impotence, Acute kidney injury, Budd-Chiari syndrome, Dysuria, Large vessel vasculitis, Unilatera... ORPHA:49041
Pseudohypoaldosteronism, Type Iia
Hypertension OMIM:145260
Alport Syndrome 2, Autosomal Recessive
Nephritis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Hematuria, Nephrotic... OMIM:203780
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, ST segment depression, H... ORPHA:90065
Erythrocytosis, Familial, 1
Hypertension, Myocardial infarction, Cerebral hemorrhage OMIM:133100
Familial Hyperaldosteronism Type Iii
Epistaxis, Hypercalciuria, Prolonged QT interval, Intracranial hemorrhage, Hypertension ORPHA:251274
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anuria, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Hypertension... OMIM:612925
Heme Oxygenase 1 Deficiency
Epistaxis, Diffuse alveolar hemorrhage, Nephritis, Hematuria, Proteinuria, Hypertension OMIM:614034
Liddle Syndrome 1
Hypertension, Renal insufficiency OMIM:177200
X-Linked Hypohidrotic Ectodermal Dysplasia
Hypertension ORPHA:181
Fabry Disease
Lipiduria, Congestive heart failure, Transient ischemic attack, Renal insufficiency, Proteinuria,... OMIM:301500
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hypertension, Hemolytic-uremic syndrome OMIM:612924
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
Lipodystrophy, Familial Partial, Type 1
Hypertension OMIM:608600
Polyarteritis Nodosa
Hypertension, Raynaud phenomenon, Cardiomyopathy, Pericarditis ORPHA:767
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Congestive he... ORPHA:1830
Alport Syndrome 3A, Autosomal Dominant
Nephritis, Nephrocalcinosis, Stage 5 chronic kidney disease, Renal insufficiency, Hematuria, Prot... OMIM:104200
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... ORPHA:97362
Diffuse Cutaneous Systemic Sclerosis
Hypertensive crisis, Oliguria, Congestive heart failure, Renal insufficiency, Telangiectasia of t... ORPHA:220393
Pseudohypoaldosteronism Type 2
Hypertension ORPHA:757
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Portal hypertension, Renal insufficiency, Renal cyst, Tubul... OMIM:263200
Ganglioneuroma
Gastrointestinal hemorrhage, Hypertension ORPHA:251992
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Nephropathy, Gastrointestinal hemorrhage, Cardiomyopathy, Punctate vasculitis skin lesions, Telan... ORPHA:247691
Tetanus
Elevated urinary norepinephrine level, Bradycardia, Tachycardia, Elevated urinary epinephrine lev... ORPHA:3299
Coach Syndrome 2
Hypertension OMIM:619111
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Second degree atrioventricular block, Nephrolithiasis, Pulmonary arterial hypertension... ORPHA:369929
Familial Cerebral Saccular Aneurysm
Subarachnoid hemorrhage, Transient ischemic attack, Hypertension, Intracranial hemorrhage ORPHA:231160
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Hypertension OMIM:605115
Joubert Syndrome 14
Encephalocele, Renal cyst, Meningocele, Intracranial hemorrhage, Hypertension OMIM:614424
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Abnormal T-wave, Palpitations, Increased urinary potassium, Intracranial hemorrhage, H... ORPHA:231625
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Dilated cardiomyopathy, Azoospermia, Cerebral hemorrhage, Hypertension, Hypergonadotropic hypogon... OMIM:300845
Nephroblastoma
Hematuria, Hypertension ORPHA:654
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Congestive heart failure, Renal artery stenosis, Hypertension, Myocardial... OMIM:208000
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Stage 5 chronic kidney disease, Renal insufficiency, Hypertension, Multiple renal cysts, Polycyst... OMIM:613095
Lipodystrophy, Familial Partial, Type 6
Hypertension OMIM:615980
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertension ORPHA:363400
Renal Dysplasia
Chronic kidney disease, Multicystic kidney dysplasia, Hydroureter, Ureterocele, Vesicovaginal fis... ORPHA:93108
Mercury Poisoning
Acute kidney injury, Tachycardia, Hypotension, Hypertension ORPHA:330021
Postorgasmic Illness Syndrome
Palpitations, Hypertension ORPHA:279947
Eosinophilic Granulomatosis With Polyangiitis
Vasculitis, Congestive heart failure, Hypertrophic cardiomyopathy, Transient ischemic attack, Ren... ORPHA:183
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Hematuria, Pulmonary arterial hypertension, Second degree atrioventricular block OMIM:617021
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Stage 5... OMIM:120330
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Transient ischemic attack, Cerebral ischemia, Renal insuffici... OMIM:242900
Simple Cryoglobulinemia
Vasculitis, Gastrointestinal hemorrhage, Nephritis, Congestive heart failure, Renal insufficiency... ORPHA:91139
Familial Hyperaldosteronism Type Ii
Epistaxis, Intracranial hemorrhage, Hypertension ORPHA:404
Familial Hyperaldosteronism Type I
Epistaxis, Intracranial hemorrhage, Hypertension ORPHA:403
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Pu... ORPHA:567546
Caudal Regression Syndrome
Abnormality of the ureter, Renal insufficiency, Vesicoureteral reflux, Ectopic kidney, Ureteral d... ORPHA:3027
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Tsh-Secreting Pituitary Adenoma
Irregular menstruation, Hypotension, Male hypogonadism, Impotence, Congestive heart failure, Abno... ORPHA:91347
Hereditary Pheochromocytoma-Paraganglioma
Elevated urinary dopamine level, Sinus tachycardia, Elevated urinary norepinephrine level, Conges... ORPHA:29072
Aicardi-Goutieres Syndrome 9
Stage 5 chronic kidney disease, Portal hypertension, Renal insufficiency, Proteinuria, Glomerular... OMIM:619487
Pseudo-Torch Syndrome 3
Proteinuria, Acute kidney injury, Hypertension, Cerebral hemorrhage OMIM:618886
Werner Syndrome
Secondary amenorrhea, Congestive heart failure, Hypogonadism, Decreased fertility, Telangiectasia... ORPHA:902
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Glomerular sclerosis, Orthostatic hypotension, Tachycardia, Hypertension, Abnormal renal physiology OMIM:223900
Central Hypoventilation Syndrome, Congenital, 3
Episodic hypertension OMIM:619483
Apparent Mineralocorticoid Excess
Abnormal urine sodium concentration, Nephrocalcinosis, Hypertension, Renal insufficiency ORPHA:320
Porphyria, Acute Intermittent
Urinary retention, Dysuria, Elevated urinary delta-aminolevulinic acid, Urinary incontinence, Tac... OMIM:176000
Hyperaldosteronism, Familial, Type Iii
Hypercalciuria, Hypertension, Polyuria OMIM:613677
Ethylene Glycol Poisoning
Hypotension, Congestive heart failure, Shock, Renal insufficiency, Renal tubular dysfunction, Hem... ORPHA:31826
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypospadias, Umbilical hernia, Hypertrophic cardiomyopathy, 3-Methylglutaconic aciduria, Arrhythm... OMIM:614052
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Irregular menstruation, Hypospadias, Male hypogonadism, Increased urinary 11-deoxycorticosterone ... ORPHA:90793
Paternal Uniparental Disomy Of Chromosome 1
Proteinuria, Membranoproliferative glomerulonephritis, Macroscopic hematuria, Hypertension, Enlar... ORPHA:251004
Cocaine Intoxication
Diffuse alveolar hemorrhage, Hypotension, Acute kidney injury, Prolonged QRS complex, Ischemic st... ORPHA:90068
Primary Unilateral Adrenal Hyperplasia
Epistaxis, Palpitations, Hypertension, Increased urinary potassium ORPHA:231580
Multiple Endocrine Neoplasia, Type Iia
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Palpitations, Elevated ur... OMIM:171400
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Hypertension, Secondary amenorrhea OMIM:610489
Adrenocortical Carcinoma
Increased urinary cortisol level, Palpitations, Abnormality of urine homeostasis, Hypertension, A... ORPHA:1501
Hyperaldosteronism, Familial, Type I
Hypertension OMIM:103900
Pituitary Adenoma 4, Acth-Secreting
Oligomenorrhea, Hypertension, Nephrolithiasis OMIM:219090
Juvenile Paget Disease
Hypertension ORPHA:2801
Birk-Landau-Perez Syndrome
Renal hypoplasia, Stage 3 chronic kidney disease, Renal insufficiency, Tubulointerstitial nephrit... OMIM:617595
Neuroblastoma, Susceptibility To, 1
Elevated urinary dopamine level, Elevated urinary homovanillic acid, Elevated urinary vanillylman... OMIM:256700
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Hematuria, Glomerulonephritis, Tubulointerstitial nephritis, Tachycardia,... ORPHA:340
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Hypertension OMIM:615954
Paroxysmal Hemicrania
Hypertension ORPHA:157835
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Nephrocalcinosis, Angina pectoris, Telan... ORPHA:758
Monosomy 18P
Hypertension ORPHA:1598
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Pulmonary arterial hypertension, Hypertension OMIM:613320
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypertension, Pulmonary arterial hypertension, Second degree atrioventricular block, Nephrolithiasis OMIM:615474
Alagille Syndrome
Nephrotic syndrome, Abnormality of the ureter, Telangiectasia of the skin, Spina bifida occulta, ... ORPHA:52
Nephronophthisis-Like Nephropathy 1
Renal corticomedullary cysts, Stage 5 chronic kidney disease, Nephronophthisis, Hypertension OMIM:613159
Porphyria Variegata
Chronic kidney disease, Elevated urinary delta-aminolevulinic acid, Increased urinary porphobilin... ORPHA:79473
Liddle Syndrome 2
Hypertension OMIM:618114
Liddle Syndrome 3
Hypertension OMIM:618126
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Hypertension OMIM:617763
Methylcobalamin Deficiency Type Cble
Hypertension, Hemolytic-uremic syndrome ORPHA:2169
Gaucher Disease, Type I
Aortic valve stenosis, Epistaxis, Mitral regurgitation, Pulmonary arterial hypertension, Hyperten... OMIM:230800
Pediatric-Onset Graves Disease
Sinus tachycardia, Congestive heart failure, Palpitations, Atrial fibrillation, Hypertension ORPHA:525731
Pseudohypoaldosteronism, Type Iib
Hypertension OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hypertension OMIM:614495
Alport Syndrome
Focal segmental glomerulosclerosis, Nephritis, Stage 5 chronic kidney disease, Renal insufficienc... ORPHA:63
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Irregular menstruation, Increased urinary cortisol level, Nephrolithiasis, Abnormal libido, Hyper... ORPHA:189427
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Irregular menstruation, Increased urinary 11-deoxycorticosterone level, Long penis, Renal salt wa... ORPHA:90795
Alopecia Universalis
Hypertension ORPHA:701
Xfe Progeroid Syndrome
Proteinuria, Premature ovarian insufficiency, Hypertension, Renal insufficiency OMIM:610965
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei... OMIM:232200
Morgagni-Stewart-Morel Syndrome
Hypertension ORPHA:77296
Cirrhosis, Familial
Increased level of L-fucose in urine, Pulmonary arterial hypertension, Hypertension OMIM:215600
Galloway-Mowat Syndrome 3
Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis, Glomerular sclerosis, N... OMIM:617729
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Diffuse mesangia... OMIM:194080
Serotonin Syndrome
Acute kidney injury, Tachycardia, Hypotension, Hypertension ORPHA:43116
Abdominal Obesity-Metabolic Syndrome 4
Hypertension, Myocardial infarction OMIM:618620
Pituitary Apoplexy
Hypotension, Hypertension, Oligomenorrhea, Impotence, Hypergonadotropic hypogonadism ORPHA:95613
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:605373
Alport Syndrome 1, X-Linked
Nephritis, Stage 5 chronic kidney disease, Renal insufficiency, Hypertension, Proteinuria, Nephro... OMIM:301050
Infant Botulism
Cardiac arrest, Hypotension, Hypertension ORPHA:178478
Renal Agenesis
Unilateral renal agenesis, Ureteral agenesis, Renal insufficiency, Proteinuria, Hypertension ORPHA:411709
Fragile X-Associated Tremor/Ataxia Syndrome
Hypotension, Urinary bladder sphincter dysfunction, Hypertension, Impotence, Pollakisuria ORPHA:93256
Extracranial Carotid Artery Aneurysm
Vasculitis, Arteritis, Cerebral ischemia, Subarachnoid hemorrhage, Hypertension ORPHA:494424
Scorpion Envenomation
Acute kidney injury, Cardiogenic shock, Prominent U wave, Glycosuria, Priapism, Congestive heart ... ORPHA:466677
Arteriosclerosis, Severe Juvenile
Chronic kidney disease, Hypertension, Myocardial infarction OMIM:208060
Sickle Cell Disease
Hematuria, Renal insufficiency, Hypertension, Priapism OMIM:603903
Pseudohypoaldosteronism, Type Iie
Hypertension OMIM:614496
Polycythemia Vera
Epistaxis, Gastrointestinal hemorrhage, Pulmonary embolism, Budd-Chiari syndrome, Portal hyperten... ORPHA:729
Stiff-Person Syndrome
Tachycardia, Hypertension OMIM:184850
Isolated Ectopia Lentis
Hypertension ORPHA:1885
Arterial Tortuosity Syndrome
Aortic valve stenosis, Aortic regurgitation, Umbilical hernia, Ischemic stroke, Telangiectases of... OMIM:208050
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hypertension, Umbilical hernia ORPHA:1555
Apparent Mineralocorticoid Excess
Hypertension OMIM:218030
Neuroleptic Malignant Syndrome
Hypertensive crisis, Hypotension, Acute kidney injury, Pulmonary embolism, Proteinuria, Arrhythmi... ORPHA:94093
Arima Syndrome
Nephronophthisis, Stage 5 chronic kidney disease, Occipital meningocele, Renal sodium wasting, He... OMIM:243910
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Oligomenorrhea, Oligozoospermia, Infertility, Hypertension ORPHA:786
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei... OMIM:232220
Acute Intermittent Porphyria
Urinary retention, Dysuria, Dark urine, Increased urinary porphobilinogen, Renal insufficiency, E... ORPHA:79276
Granulomatosis With Polyangiitis
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Ureteral stenosis, Cerebral ischemia, Renal i... ORPHA:900
Beta-Ketothiolase Deficiency
Hypotension, Hypertension, Ketonuria ORPHA:134
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypocalciuria, Enuresis, Renal sodium wasting, Polyuria, Renal salt wasting, Hypertension, Renal ... OMIM:612780
Fabry Disease
Nephropathy, Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Bundl... ORPHA:324
Ectopic Aldosterone-Producing Tumor
Epistaxis, Hypertension ORPHA:231632
Pheochromocytoma/Paraganglioma Syndrome 1
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:168000
Aortic Arch Interruption
Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Shock, Blood pressure su... ORPHA:2299
Senior-Boichis Syndrome
Chronic kidney disease, Renal hypoplasia, Abnormal urinary electrolyte concentration, Reduced ren... ORPHA:84081
Spondyloenchondrodysplasia
Chronic kidney disease, Vasculitis, Hematuria, Proteinuria, Raynaud phenomenon, Hypertension ORPHA:1855
Pigmented Nodular Adrenocortical Disease, Primary, 4
Hypertension OMIM:615830
Glycogen Storage Disease Ic
Focal segmental glomerulosclerosis, Spider hemangioma, Decreased glomerular filtration rate, Rena... OMIM:232240
Primary Progressive Freezing Gait
Urinary incontinence, Hypertension ORPHA:75567
Pseudohypoaldosteronism, Type Iic
Hypertension OMIM:614492
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Hydronephrosis, Hyperte... OMIM:617913
Cockayne Syndrome Type 1
Proteinuria, Male hypogonadism, Hypertension, Renal insufficiency ORPHA:90321
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Irregular menstruation, Epistaxis, Nephrocalcinosis, Stage 5 chronic kidney disease, Pulmonary ve... ORPHA:79259
Cutis Marmorata Telangiectatica Congenita
Telangiectasia, Hypertension OMIM:219250
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Hypertension, Anuria, Hemolytic-uremic syndrome OMIM:235400
Familial Pseudohyperkalemia
Hypertension ORPHA:90044
Gaisböck Syndrome
Nephrocalcinosis, Hypernatriuria, Elevated diastolic blood pressure, Angina pectoris, Hypertensio... ORPHA:90041
Familial Dysautonomia
Tachycardia, Hypertension, Orthostatic hypotension, Renal insufficiency ORPHA:1764
Acquired Generalized Lipodystrophy
Proteinuria, Abnormal cardiovascular system physiology, Hypertension, Cardiomyopathy ORPHA:79086
Acth-Independent Macronodular Adrenal Hyperplasia
Hypertension OMIM:219080
Pigmented Nodular Adrenocortical Disease, Primary, 2
Hypertension OMIM:610475
Wagro Syndrome
Proteinuria, Hypertension OMIM:612469
Alstrom Syndrome
Irregular menstruation, Nephritis, Dilated cardiomyopathy, Congestive heart failure, Renal insuff... OMIM:203800
Crimean-Congo Hemorrhagic Fever
Hematuria, Tachycardia, Diffuse alveolar hemorrhage, Bundle branch block, Hemothorax, Hemoperiton... ORPHA:99827
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Telangiectasia of ... ORPHA:3342
Acute Interstitial Pneumonia
Hypertension ORPHA:79126
Postinfectious Vasculitis
Cardiomyopathy, Cerebral vasculitis, Ischemic stroke, Orchitis, Hematuria, Proteinuria, Raynaud p... ORPHA:48435
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrioventricular block, Hypertension ORPHA:371428
Neuroblastoma
Elevated urinary homovanillic acid, Hypertension, Elevated urinary vanillylmandelic acid, Elevate... ORPHA:635
Hunter-Macdonald Syndrome
Aortic regurgitation, Umbilical hernia, Mitral regurgitation, Hypertension, Hypospadias OMIM:611962
Overlap Myositis
Pulmonary arterial hypertension, Hypertension, Raynaud phenomenon ORPHA:206572
Von Hippel-Lindau Disease
Cardiomyopathy, Palpitations, Elevated urinary catecholamine level, Arrhythmia, Multiple renal cy... ORPHA:892
Poliomyelitis
Hypovolemic shock, Hypotension, Hypertension ORPHA:2912
Prader-Willi Syndrome
Hypogonadism, Infertility, Hypertension, Primary amenorrhea ORPHA:739
Acute Transverse Myelitis
Urinary retention, Priapism, Urinary bladder sphincter dysfunction, Subarachnoid hemorrhage, Orth... ORPHA:139417
Myhre Syndrome
Abnormal penis morphology, Hypogonadism, Hypertension, Hypospadias, Epispadias ORPHA:2588
Seckel Syndrome 10
Hypertension, Glycosuria, Congestive heart failure OMIM:617253
Hurler Syndrome
Angina pectoris, Mucopolysacchariduria, Hypertension, Cardiomyopathy ORPHA:93473
Carey-Fineman-Ziter Syndrome
Glandular hypospadias, Hypertensive crisis, Hydronephrosis ORPHA:1358
Hypomagnesemia 3, Renal
Chronic kidney disease, Hematuria, Macroscopic hematuria, Renal magnesium wasting, Sterile pyuria... OMIM:248250
Nestor-Guillermo Progeria Syndrome
Sinus tachycardia, Mitral regurgitation, Right bundle branch block, Pulmonary arterial hypertensi... OMIM:614008
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Acute kidney injury, Nephronophthisis, Umbilical hernia, Stage 5 chronic kidney disease, Reduced ... OMIM:266920
Au-Kline Syndrome
Chronic kidney disease, Vesicoureteral reflux, Hydronephrosis, Lipomyelomeningocele, Hypertension OMIM:616580
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hypertension ORPHA:449291
Alkaptonuria
Aortic valve stenosis, Aminoaciduria, Elevated urinary homogentisic acid, Dark urine, Mitral regu... ORPHA:56
Hallermann-Streiff Syndrome
Telangiectasia, Pulmonary arterial hypertension, Hypertension, Spina bifida OMIM:234100
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Tachycardia, Hypertension, Bradycardia OMIM:614653
Bardet-Biedl Syndrome 1
Hypogonadism, Micropenis, Hypertension OMIM:209900
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Transient ischemic attack, Ischemic stroke, Subarachnoid hemorrhage, Abnorm... ORPHA:91387
Cushing Disease
Secondary amenorrhea, Increased urinary cortisol level, Capillary fragility, Amenorrhea, Oligomen... ORPHA:96253
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Unilateral renal agenesis, Decreased fertility, Vesicoureteral reflux, Hypertension, Oligozoosper... ORPHA:95699
Pheochromocytoma/Paraganglioma Syndrome 4
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma, Elevated urinary catech... OMIM:115310
Beare-Stevenson Cutis Gyrata Syndrome
Hypospadias, Hypertension OMIM:123790
Livedoid Vasculopathy
Telangiectasia of the skin, Ischemic stroke, Hypertension ORPHA:542643
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hypertension OMIM:616914
Cockayne Syndrome A
Irregular menstruation, Hypogonadism, Renal insufficiency, Proteinuria, Arrhythmia, Micropenis, H... OMIM:216400
Telangiectasia, Hereditary Hemorrhagic, Type 2
Nasal mucosa telangiectasia, Facial telangiectasia, Cerebral hemorrhage, Fingerpad telangiectases... OMIM:600376
Acromegaly
Impotence, Long penis, Hypertrophic cardiomyopathy, Dysuria, Wide penis, Mitral regurgitation, Dy... ORPHA:963
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Arrhythmia, Hypertension ORPHA:139411
Autosomal Dominant Dopa-Responsive Dystonia
Hypertension ORPHA:98808
Somatomammotropinoma
Impotence, Hypertrophic cardiomyopathy, Dysuria, Mitral regurgitation, Dysmenorrhea, Hypogonadotr... ORPHA:314769
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Acute kidney injury, Pulmonary embolism, Glycosuria, Budd-Chiari syndrome... ORPHA:447
Marshall-Smith Syndrome
Premature ventricular contraction, Pulmonary arterial hypertension, Hypertension, Umbilical hernia OMIM:602535
Pseudohypoparathyroidism Type 1A
Low urinary cyclic AMP response to PTH administration, Oligomenorrhea, Prolonged QT interval, Hyp... ORPHA:79443
Alexander Disease
Hypertension, Hypotension, Sudden cardiac death ORPHA:58
Orofaciodigital Syndrome I
Myelomeningocele, Polycystic kidney dysplasia, Hypertension, Proteinuria OMIM:311200
Abdominal Obesity-Metabolic Syndrome 3
Hypertension, Myocardial infarction OMIM:615812
Hardikar Syndrome
Hydroureter, Umbilical hernia, Pyelonephritis, Portal hypertension, Renal insufficiency, Vesicour... OMIM:301068
Aorta Coarctation
Pulmonary arterial hypertension, Hypertension, Congestive heart failure ORPHA:1457
Apert Syndrome
Hypertension ORPHA:87
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Anuria, Hemoglobinuria, Hypertension, Myocardial infarction ORPHA:90038
Neurofibromatosis, Type I
Renal artery stenosis, Hypertension, Spina bifida OMIM:162200
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Gastrointestinal hemorrhage, Pulmonary embolism, Cerebral ischemia, Intracranial hemorrhage, Hype... ORPHA:394
Mucopolysaccharidosis Type 2, Severe Form
Cardiomyopathy, Umbilical hernia, Heparan sulfate excretion in urine, Arrhythmia, Dermatan sulfat... ORPHA:217085
Von Hippel-Lindau Syndrome
Multiple renal cysts, Hypertension OMIM:193300
Xq21 Microdeletion Syndrome
Renal artery stenosis, Hypertension ORPHA:1435
Scalp-Ear-Nipple Syndrome
Unilateral renal agenesis, Renal hypoplasia, Congestive heart failure, Pyelonephritis, Supraventr... OMIM:181270
Scalp-Ear-Nipple Syndrome
Ureteral duplication, Pyelonephritis, Hypertension, Duplication of renal pelvis ORPHA:2036
Pierson Syndrome
Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis, Retinal hemorrhage, Nep... OMIM:609049
Mucopolysaccharidosis Type 2, Attenuated Form
Cardiomyopathy, Umbilical hernia, Heparan sulfate excretion in urine, Arrhythmia, Dermatan sulfat... ORPHA:217093
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Congestive heart failure, Mitral regurgitation, Intracranial hemorrhage, H... ORPHA:363618
Combined Oxidative Phosphorylation Deficiency 15
Hypertension, Wolff-Parkinson-White syndrome, Shortened PR interval OMIM:614947
Low Phospholipid-Associated Cholelithiasis
Hypertension ORPHA:69663
Infection-Related Hemolytic Uremic Syndrome
Hypertensive crisis, Acute kidney injury, Oliguria, Anuria, Decreased urine output, Myocarditis, ... ORPHA:544482
Bardet-Biedl Syndrome
Irregular menstruation, Chronic kidney disease, Nephrotic syndrome, Cardiomyopathy, Hypogonadism,... ORPHA:110
Williams Syndrome
Mitral regurgitation, Hypertrophic cardiomyopathy, Renal insufficiency, Hypogonadotropic hypogona... ORPHA:904
Aicardi-Goutieres Syndrome 7
Vasculitis, Hematochezia, Hypertrophic cardiomyopathy, Hematemesis, Nephrotic syndrome, Hypertension OMIM:615846
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Vasculitis, Dilated cardiomyopathy, Portal hypertension, Raynaud phenomenon, Hypertension OMIM:615688
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Gastrointestinal hemorrhage, Oliguria, Reduced renal corticomedullary differ... ORPHA:731
Smooth Muscle Dysfunction Syndrome
Pulmonary arterial hypertension, Hypertension OMIM:613834
Hutchinson-Gilford Progeria Syndrome
Aortic valve stenosis, Aortic regurgitation, Delayed menarche, Transient ischemic attack, Left ve... ORPHA:740
Multiple Endocrine Neoplasia Type 1
Impotence, Decreased male libido, Shortened QT interval, Nephrolithiasis, Amenorrhea, Hypercalciu... ORPHA:652
Turner Syndrome Due To Structural X Chromosome Anomalies
Secondary amenorrhea, Female infertility, Horseshoe kidney, High urinary gonadotropin level, Ecto... ORPHA:99413
Turner Syndrome
Secondary amenorrhea, Female infertility, Horseshoe kidney, High urinary gonadotropin level, Ecto... ORPHA:881
Mosaic Monosomy X
Secondary amenorrhea, Female infertility, Horseshoe kidney, High urinary gonadotropin level, Ecto... ORPHA:99228
Monosomy X
Secondary amenorrhea, Female infertility, Horseshoe kidney, High urinary gonadotropin level, Ecto... ORPHA:99226
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Hydronephrosis, Hypertension ORPHA:2750
Cockayne Syndrome
Urinary incontinence, Renal hypoplasia, Unilateral renal agenesis, Renal insufficiency, Proteinur... ORPHA:191
Atypical Werner Syndrome
Aortic valve stenosis, Glycosuria, Congestive heart failure, Hypogonadism, Decreased fertility, T... ORPHA:79474
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Long penis, Hypertension OMIM:202010
Multiple Endocrine Neoplasia Type 2
Hypertensive crisis, Elevated urinary norepinephrine level, Palpitations, Hypertension associated... ORPHA:653
Cockayne Syndrome B
Renal insufficiency, Proteinuria, Arrhythmia, Micropenis, Hypertension OMIM:133540
Tuberous Sclerosis Complex
Chronic kidney disease, Stage 5 chronic kidney disease, Renal insufficiency, Hypertension, Renal ... ORPHA:805
Smith-Lemli-Opitz Syndrome
Hypospadias, Renal hypoplasia, Unilateral renal agenesis, Hypertrophic cardiomyopathy, Ureteropel... OMIM:270400
Systemic Lupus Erythematosus
Hematuria, Proteinuria, Lupus nephritis, Raynaud phenomenon, Hypertension, Pyuria ORPHA:536
Nelson Syndrome
Increased urinary cortisol level, Intracranial hemorrhage, Hypertension ORPHA:199244
Familial Bicuspid Aortic Valve
Aortic valve stenosis, Heart murmur, Aortic regurgitation, Hypertension ORPHA:402075
Mucopolysaccharidosis Type 2
Arrhythmia, Hypertension, Cardiomyopathy, Umbilical hernia ORPHA:580
Williams-Beuren Syndrome
Renal hypoplasia, Enuresis, Nephrocalcinosis, Umbilical hernia, Renal artery stenosis, Portal hyp... OMIM:194050
Homozygous Familial Hypercholesterolemia
Renal artery stenosis, Supravalvular aortic stenosis, Mitral regurgitation, Hypertension, Angina ... ORPHA:391665
Cranioectodermal Dysplasia 2
Renal cyst, Hypertension, Renal insufficiency OMIM:613610
22Q11.2 Deletion Syndrome
Hypertensive crisis, Gastrointestinal hemorrhage, Renal hypoplasia, Umbilical hernia, Vesicourete... ORPHA:567
Adams-Oliver Syndrome 1
Aortic valve stenosis, Encephalocele, Pulmonary arterial hypertension, Hypertension, Pulmonic ste... OMIM:100300
Yunis-Varon Syndrome
Cardiomyopathy, Renal artery stenosis, Hypertension, Pulmonary arterial hypertension, Micropenis,... ORPHA:3472
Familial Osteodysplasia, Anderson Type
Hypertension ORPHA:2769
Immunodeficiency 87 And Autoimmunity
Pulmonary arterial hypertension, Hypertension, Third degree atrioventricular block, Dilated cardi... OMIM:619573
Lipodystrophy, Familial Partial, Type 2
Hypertension OMIM:151660
Blau Syndrome
Hypertension, Pericarditis OMIM:186580
Myhre Syndrome
Aortic valve stenosis, Hypertension OMIM:139210
Cushing Syndrome Due To Ectopic Acth Secretion
Secondary amenorrhea, Increased urinary cortisol level, Capillary fragility, Amenorrhea, Oligomen... ORPHA:99889
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Renal hypoplasia, Hypertension, Renal cyst, Micropenis, Polycystic kidney dysplasia OMIM:210710
Blau Syndrome
Nephropathy, Large vessel vasculitis, Stage 5 chronic kidney disease, Pulmonary arterial hyperten... ORPHA:90340
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
17Q11 Microdeletion Syndrome
Hypertrophic cardiomyopathy, Renal artery stenosis, Pulmonary arterial hypertension, Telangiectas... ORPHA:97685
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Ketonuria, Hypertrophic cardiomyopathy, Mitral regurgitation, Hypertension, Hypospadias OMIM:220111
Generalized Arterial Calcification Of Infancy
Nephrocalcinosis, Cortical nephrocalcinosis, Transient ischemic attack, Left ventricular systolic... ORPHA:51608
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Vesicovaginal fistula, Horseshoe kidney, Hypertension, Chordee, Primary amenorrhea, Micropenis, H... OMIM:201750
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Umbilical hernia, Corneal neovasculariza... OMIM:308205
Vascular Ehlers-Danlos Syndrome
Hypospadias, Umbilical hernia, Transient ischemic attack, Cystocele, Bladder diverticulum, Telang... ORPHA:286
Carney Complex
Abnormal sperm motility, Congestive heart failure, Oligozoospermia, Hypertension, Decreased ferti... ORPHA:1359
Neurofibromatosis Type 1
Hypertension ORPHA:636
Alström Syndrome
Chronic kidney disease, Glomerulonephritis, Oligozoospermia, Urinary incontinence, Abnormal coron... ORPHA:64
Keutel Syndrome
Hypertension, Pulmonic stenosis OMIM:245150
Preeclampsia/Eclampsia 4
OMIM:609404

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 Stox1

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 Stox1.

No publications found that use IMPC mice or data for Stox1.

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
Stox1em1(IMPC)Bay Exon Deletion Mice
Stox1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Stox1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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