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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
Proteinuria, Chronic kidney disease, Elevated diastolic blood pressure, Hypertension, Elevated sy... 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
Hypertension, Renal insufficiency, Multiple renal cysts, Stage 5 chronic kidney disease OMIM:620056
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Hypertension, Focal segmenta... OMIM:603965
Focal Segmental Glomerulosclerosis 5
Proteinuria, Stage 5 chronic kidney disease, Hypertension, Focal segmental glomerulosclerosis, Mi... OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Proteinuria, Hematuria, Hypertension, Focal segmental glomerulosclerosis OMIM:607832
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Spastic Paraplegia-Nephritis-Deafness Syndrome
Hypertension, Nephropathy, Proteinuria ORPHA:2820
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Nephrotic syndrom... OMIM:601894
Preeclampsia/Eclampsia 1
Hypertension, Proteinuria OMIM:189800
Nail-Patella-Like Renal Disease
Hypertension, Renal insufficiency, Microscopic hematuria, Proteinuria ORPHA:2613
Lessel-Kubisch Syndrome
Hypertension, Renal insufficiency, Hypogonadism, Renal hypoplasia OMIM:618681
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Microscopic hemat... OMIM:161900
Glomerulopathy With Fibronectin Deposits 1
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Nephrotic syndrom... OMIM:137950
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis OMIM:613944
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hypertension, Polycystic kidney dysplasia, Reduced renal corticom... OMIM:617610
Iga Nephropathy, Susceptibility To, 3
Hematuria, Hypertension, Proteinuria, Stage 5 chronic kidney disease OMIM:616818
Senior-Loken Syndrome
Premature ovarian insufficiency, Chronic kidney disease, Stage 5 chronic kidney disease, Hyperten... ORPHA:3156
Morbid Obesity And Spermatogenic Failure
Myocardial infarction, Congestive heart failure, Oligozoospermia, Azoospermia, Hypertension, Infe... OMIM:615703
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension OMIM:166990
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2
Lacunar stroke, Hypertension, Transient ischemic attack OMIM:616779
Trimethylaminuria
Hypertension, Tachycardia, Trimethylaminuria OMIM:602079
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Myocardial infarction, Chronic kidney disease, Stage 5 chronic ... ORPHA:54370
Coronary Artery Disease, Autosomal Dominant, 1
Hypertension, Myocardial infarction OMIM:608320
Cystic Hamartoma Of Lung And Kidney
Hypertension, Multicystic kidney dysplasia ORPHA:2111
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis OMIM:161950
Coronary Artery Disease, Autosomal Dominant 2
Sudden cardiac death, Hypertension, Myocardial infarction OMIM:610947
Pheochromocytoma/Paraganglioma Syndrome 6
Hypertension OMIM:618464
Focal Segmental Glomerulosclerosis 1
Proteinuria, Stage 5 chronic kidney disease, Hypertension, Focal segmental glomerulosclerosis, Re... OMIM:603278
Liddle Syndrome
Renal insufficiency, Hypertension, Cerebral ischemia, Nephropathy, Arrhythmia ORPHA:526
Maternally-Inherited Diabetes And Deafness
Renal insufficiency, Proteinuria, Congestive heart failure, Hypertension, Arrhythmia, Hypertrophi... ORPHA:225
Melorheostosis With Osteopoikilosis
Hypertension ORPHA:1879
Fibronectin Glomerulopathy
Renal insufficiency, Proteinuria, Cerebral hemorrhage, Hypertension, Nephrotic syndrome, Microsco... ORPHA:84090
Idiopathic Non-Lupus Full-House Nephropathy
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Hypertension, Nephro... ORPHA:567544
Coproporphyria, Hereditary
Hypertension, Tachycardia, Increased urinary porphobilinogen, Elevated urinary delta-aminolevulin... OMIM:121300
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Preeclampsia
Proteinuria, Chronic kidney disease, Elevated diastolic blood pressure, Hypertension, Elevated sy... ORPHA:275555
Frasier Syndrome
Renal insufficiency, Streak ovary, Hypergonadotropic hypogonadism, Proteinuria, Primary amenorrhe... ORPHA:347
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia ORPHA:1345
Hypertension And Brachydactyly Syndrome
Hypertension OMIM:112410
Amyloidosis, Familial Visceral
Proteinuria, Hematuria, Hypertension, Nephrotic syndrome, Nephropathy OMIM:105200
Plin1-Related Familial Partial Lipodystrophy
Hypertension, Infertility, Oligomenorrhea ORPHA:280356
Ochoa Syndrome
Renal insufficiency, Urinary incontinence, Cryptorchidism, Urethral obstruction, Hypertension, Ve... ORPHA:2704
Moyamoya Disease 6 With Or Without Achalasia
Raynaud phenomenon, Hypertension, Impotence, Ischemic stroke OMIM:615750
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Congestive heart failure, Nephrocalcinosis, Hyper... OMIM:614473
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Hypertension, Telangiectases producing 'marbled' skin OMIM:206570
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Proteinuria, Cryptorchidism, Nephrotic syndrome, Hypertension, Nephropathy ORPHA:1192
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Chronic kidney disease, Stage 5 chronic ki... ORPHA:329918
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Congestive heart failure, Abnormal left ventricular function, Hyp... OMIM:540000
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Arrhythmia, Renal insufficiency, Cardiomyopathy ORPHA:3222
Lipodystrophy, Familial Partial, Type 4
Hypertension, Oligomenorrhea OMIM:613877
Sneddon Syndrome
Intracranial hemorrhage, Hypertension, Nephropathy ORPHA:820
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Proteinuria, Cardiac ... ORPHA:439232
Potocki-Shaffer Syndrome
Hypertension, Micropenis ORPHA:52022
Denys-Drash Syndrome
Hypertension, Nephropathy, Nephrotic syndrome, Proteinuria ORPHA:220
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Hypertension, ... OMIM:602088
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Hypertension, Polycystic kidney dysplasia, D... OMIM:618061
Nephronophthisis 18
Hypertension, Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis OMIM:615862
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Atrial fibrillation, Proteinuria, Dysuria, Chronic kidney disease, Nephrolit... ORPHA:976
Moyamoya Disease With Early-Onset Achalasia
Raynaud phenomenon, Hypertension ORPHA:401945
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Cerebral hemorrhage, Dilated cardiomyopathy, Azoospermia, Hyperte... ORPHA:280679
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hypertension, Polycystic kidney dysplasia OMIM:600666
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hypertension, Mitral regurgitation, Renal insufficiency, Polycystic kidney dysplasia OMIM:173900
Familial Cervical Artery Dissection
Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral hemorrhage, Hypertension, ... ORPHA:36382
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypertension, Hypospadias, Renal salt wasting OMIM:201910
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Hypertension, Primary amenorrhea OMIM:202110
Coenzyme Q10 Deficiency, Primary, 8
Hypertension, Abnormal renal corticomedullary differentiation OMIM:616733
Peripartum Cardiomyopathy
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... ORPHA:563
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Unilateral renal agenesis, Chronic kidney disea... ORPHA:93101
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Non-Functioning Paraganglioma
Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive heart failure, Elevated ur... ORPHA:94080
Glucocorticoid Resistance, Generalized
Hypertension, Irregular menstruation, Infertility OMIM:615962
Grange Syndrome
Aortic regurgitation, Hypertension ORPHA:79094
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Hypertension, Renal tu... OMIM:610205
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Renal salt wasting, Renal hypoplasia,... OMIM:174000
Multicentric Carpotarsal Osteolysis Syndrome
Hypertension, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease OMIM:166300
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertension ORPHA:71529
Takayasu Arteritis
Myocardial infarction, Vasculitis, Hypertension, Cerebral ischemia, Pulmonary arterial hypertensi... ORPHA:3287
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Hypertension, Aminoaciduria, Glycosuria, Tubulointer... OMIM:618913
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ... OMIM:171420
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Cerebral hemorrhage, Stress urinary incontinence, Intracranial hemorrh... ORPHA:136
Bardet-Biedl Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Hypertension, Nephrotic syndro... ORPHA:110
Nephronophthisis 1
Polyuria, Stage 5 chronic kidney disease, Hypertension, Hyposthenuria, Renal corticomedullary cys... OMIM:256100
Familial Partial Lipodystrophy, Köbberling Type
Hypertension ORPHA:79084
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Hypertension, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure ORPHA:1349
Pparg-Related Familial Partial Lipodystrophy
Dysmenorrhea, Congestive heart failure, Primary amenorrhea, Secondary amenorrhea, Hypertension, O... ORPHA:79083
Pituitary Adenoma 1, Multiple Types
Hypertension, Irregular menstruation, Cardiomyopathy OMIM:102200
Corticosteroid-Binding Globulin Deficiency
Hypertension, Hypotension, Decreased urinary potassium OMIM:611489
Riboflavin Transporter Deficiency
Hypertension, Hypogonadism ORPHA:97229
Renal Hypodysplasia/Aplasia 1
Hypertension, Proteinuria, Primary amenorrhea OMIM:191830
Hyperaldosteronism, Familial, Type Ii
Hypertension OMIM:605635
Lipodystrophy, Familial Partial, Type 5
Hypertension, Irregular menstruation OMIM:615238
Cryoglobulinemia, Familial Mixed
Proteinuria, Chronic kidney disease, Hematuria, Hypertension, Abnormal renal physiology OMIM:123550
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... ORPHA:31825
Coach Syndrome 1
Encephalocele, Occipital encephalocele, Portal hypertension, Unilateral renal agenesis, Multiple ... OMIM:216360
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Gastrointestinal hemorrhage, Renal insufficiency, Primary testicular failure, P... ORPHA:85450
Rhabdoid Tumor
Hematuria, Hypertension, Internal hemorrhage ORPHA:69077
Pheochromocytoma
Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ... OMIM:171300
Lipodystrophy, Familial Partial, Type 3
Hypertension, Oligomenorrhea, Primary amenorrhea OMIM:604367
Glutaric Aciduria Iii
Hypertension, Glutaric aciduria OMIM:231690
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension OMIM:616069
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Hypertension, Tachycardia, Micropenis OMIM:613870
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... OMIM:264800
Pseudohypoaldosteronism, Type Iia
Hypertension OMIM:145260
Sneddon Syndrome
Hypertension, Ischemic stroke, Cerebral hemorrhage OMIM:182410
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... ORPHA:66529
Igg4-Related Retroperitoneal Fibrosis
Renal insufficiency, Dysuria, Renovascular hypertension, Large vessel vasculitis, Hydrocele testi... ORPHA:49041
Renal Hypoplasia, Bilateral
Proteinuria, Cryptorchidism, Chronic kidney disease, Renal hypoplasia, Renal cyst, Oliguria, Beta... ORPHA:97362
Oligomeganephronia
Branchial cyst, Renal insufficiency, Proteinuria, Unilateral renal agenesis, Bilateral renal hypo... ORPHA:2260
Sporadic Pheochromocytoma/Secreting Paraganglioma
Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive heart failure... ORPHA:276621
Posterior Urethral Valve
Renal insufficiency, Urinary incontinence, Dysuria, Urethral stenosis, Chronic kidney disease, St... ORPHA:93110
Lead Poisoning
Decreased female libido, Abnormality of the menstrual cycle, Chronic kidney disease, Oligozoosper... ORPHA:330015
Systemic Lupus Erythematosus 17
Raynaud phenomenon, Mitral regurgitation, Hypertensive crisis OMIM:301080
Stiff Skin Syndrome
Hypertension, Nephrolithiasis ORPHA:2833
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Hypertension, Umbilical hernia, Renal hypoplasia, Absence of renal corticomedullary differentiation OMIM:619758
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephro... OMIM:203780
Heme Oxygenase 1 Deficiency
Proteinuria, Epistaxis, Diffuse alveolar hemorrhage, Hematuria, Hypertension, Nephritis OMIM:614034
Erythrocytosis, Familial, 1
Hypertension, Cerebral hemorrhage, Myocardial infarction OMIM:133100
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Hematuria, Hypert... OMIM:612925
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Chronic kidney disease, Stage 5 chronic kidney disease, Renal cyst, Pyelonep... ORPHA:730
Liddle Syndrome 1
Hypertension, Renal insufficiency OMIM:177200
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... ORPHA:90065
X-Linked Hypohidrotic Ectodermal Dysplasia
Hypertension ORPHA:181
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury OMIM:612924
Fabry Disease
Renal insufficiency, Angina pectoris, Transient ischemic attack, Myocardial infarction, Proteinur... OMIM:301500
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury OMIM:612926
Polyarteritis Nodosa
Raynaud phenomenon, Cardiomyopathy, Pericarditis, Hypertension ORPHA:767
Pseudohypoaldosteronism Type 2
Hypertension ORPHA:757
Lipodystrophy, Familial Partial, Type 1
Hypertension OMIM:608600
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Epistaxis, Hypercalciuria, Intracranial hemorrhage, Hypertension ORPHA:251274
Caudal Regression Syndrome
Ureteral duplication, Renal insufficiency, Ectopic kidney, Cryptorchidism, Abnormality of the ure... ORPHA:3027
Schimke Immuno-Osseous Dysplasia
Transient ischemic attack, Proteinuria, Minimal change glomerulonephritis, Congestive heart failu... ORPHA:1830
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Cerebral hemorrhage, Dilated cardiomyopathy, Azoospermia, Hyperte... OMIM:300845
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Nephrocalci... OMIM:104200
Diffuse Cutaneous Systemic Sclerosis
Dyspareunia, Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Oliguria,... ORPHA:220393
Ganglioneuroma
Gastrointestinal hemorrhage, Hypertension ORPHA:251992
Tetanus
Tachycardia, Elevated urinary norepinephrine level, Elevated urinary epinephrine level, Hypertens... ORPHA:3299
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Pulmonary embolism, Chronic kidney disease, Stage 5 chronic ki... ORPHA:567546
Coach Syndrome 2
Hypertension OMIM:619111
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differentiation, Hema... OMIM:263200
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Proteinuria, Raynaud phenomenon, Punctate vasculitis skin lesions, T... ORPHA:247691
Familial Cerebral Saccular Aneurysm
Intracranial hemorrhage, Hypertension, Transient ischemic attack, Subarachnoid hemorrhage ORPHA:231160
Schimke Immunoosseous Dysplasia
Renal insufficiency, Transient ischemic attack, Proteinuria, Bilateral cryptorchidism, Stage 5 ch... OMIM:242900
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Hypertension OMIM:605115
Joubert Syndrome 14
Encephalocele, Meningocele, Renal cyst, Intracranial hemorrhage, Hypertension OMIM:614424
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Increased urinary potassium, Intracranial hemorrhage, Hypertension, Palpitations, Abno... ORPHA:231625
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Congestive heart failure, Dilated cardiomyopathy, Hypertension, Renal arte... OMIM:208000
Nephroblastoma
Hematuria, Hypertension ORPHA:654
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Hypertension, Multiple renal cysts, Polycyst... OMIM:613095
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Nephrolithiasis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular... ORPHA:369929
Lipodystrophy, Familial Partial, Type 6
Hypertension OMIM:615980
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertension ORPHA:363400
Renal Dysplasia
Multicystic kidney dysplasia, Abnormal renal calyx morphology, Renal insufficiency, Urinary incon... ORPHA:93108
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypospadias, Cryptorchidism, Hypertension, 3-Methylglutaconic aciduria, Arrhythmia, Umbilical her... OMIM:614052
Postorgasmic Illness Syndrome
Hypertension, Palpitations ORPHA:279947
Alstrom Syndrome
Renal insufficiency, Hypergonadotropic hypogonadism, Congestive heart failure, Dilated cardiomyop... OMIM:203800
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Pericarditis, Membranoproliferative glomerulonephritis, Renal insuff... ORPHA:91139
Mercury Poisoning
Hypertension, Tachycardia, Acute kidney injury, Hypotension ORPHA:330021
Papillorenal Syndrome
Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary differentiation, Chr... OMIM:120330
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hematuria, Hypertension, Second degree atrioventricular block, Pulmonary arterial hypertension OMIM:617021
Werner Syndrome
Telangiectasia of the skin, Myocardial infarction, Congestive heart failure, Decreased fertility,... ORPHA:902
Eosinophilic Granulomatosis With Polyangiitis
Renal insufficiency, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Proteinuria,... ORPHA:183
Tsh-Secreting Pituitary Adenoma
Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Supraventricular arr... ORPHA:91347
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Hypertension, Epistaxis ORPHA:403
Apparent Mineralocorticoid Excess
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypertension, Renal s... ORPHA:320
Aicardi-Goutieres Syndrome 9
Pericarditis, Renal insufficiency, Proteinuria, Portal hypertension, Stage 5 chronic kidney disea... OMIM:619487
Porphyria, Acute Intermittent
Tachycardia, Dysuria, Urinary incontinence, Hypertension, Urinary retention, Elevated urinary del... OMIM:176000
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male infertility, Hypospadias, Bilateral cryptorchidism, Irregular menstruation, Decreased fertil... ORPHA:90793
Hereditary Pheochromocytoma-Paraganglioma
Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive heart failure... ORPHA:29072
Pseudo-Torch Syndrome 3
Hypertension, Acute kidney injury, Proteinuria, Cerebral hemorrhage OMIM:618886
Familial Hyperaldosteronism Type Ii
Intracranial hemorrhage, Hypertension, Epistaxis ORPHA:404
Hyperaldosteronism, Familial, Type Iii
Hypertension, Polyuria, Hypercalciuria OMIM:613677
Central Hypoventilation Syndrome, Congenital, 3
Episodic hypertension OMIM:619483
Alagille Syndrome
Telangiectasia of the skin, Cryptorchidism, Abnormality of the ureter, Hypertension, Nephrotic sy... ORPHA:52
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Renal insufficiency, Renal hypoplasia, Hypertension, Tubulointers... OMIM:617595
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Hypertension, Macroscopic hematuria, Enlar... ORPHA:251004
Primary Unilateral Adrenal Hyperplasia
Hypertension, Palpitations, Epistaxis, Increased urinary potassium ORPHA:231580
Pituitary Adenoma 4, Acth-Secreting
Nephrolithiasis, Hypertension, Oligomenorrhea OMIM:219090
Multiple Endocrine Neoplasia, Type Iia
Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated urinary epinephr... OMIM:171400
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Proteinuria, Myocardial infarction, Di... ORPHA:90068
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Renal insufficiency, Congestive h... ORPHA:31826
Polycythemia Vera
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,... ORPHA:729
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Hypertension, Secondary amenorrhea OMIM:610489
Hyperaldosteronism, Familial, Type I
Hypertension OMIM:103900
Juvenile Paget Disease
Hypertension ORPHA:2801
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Tachycardia, Hypertension, Glomerular sclerosis, Abnormal renal physiology OMIM:223900
Neuroblastoma, Susceptibility To, 1
Elevated urinary catecholamine level, Elevated urinary dopamine level, Abnormality of urine catec... OMIM:256700
Adrenocortical Carcinoma
Increased urinary cortisol level, Abnormality of reproductive system physiology, Hypertension, Pa... ORPHA:1501
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Hypertension OMIM:615954
Hemorrhagic Fever-Renal Syndrome
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... ORPHA:340
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Pulmonary arterial hypertension OMIM:613320
Monosomy 18P
Hypertension ORPHA:1598
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Nephrolithiasis, Hypertension, Second degree atrioventricular block, Pulmonary arterial hypertension OMIM:615474
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R... ORPHA:758
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Renal salt wasting, Long penis, Irregular menstruation, Testicular adrenal rest tumor, Intracrani... ORPHA:90795
Liddle Syndrome 2
Hypertension OMIM:618114
Liddle Syndrome 3
Hypertension OMIM:618126
Paroxysmal Hemicrania
Hypertension ORPHA:157835
Porphyria Variegata
Tachycardia, Neurogenic bladder, Chronic kidney disease, Porphyrinuria, Hypertension, Increased u... ORPHA:79473
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Hypertension OMIM:617763
Pediatric-Onset Graves Disease
Atrial fibrillation, Congestive heart failure, Hypertension, Palpitations, Sinus tachycardia ORPHA:525731
Gaucher Disease, Type I
Epistaxis, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, Aortic valve sten... OMIM:230800
Pseudohypoaldosteronism, Type Iib
Hypertension OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hypertension OMIM:614495
Nephronophthisis-Like Nephropathy 1
Hypertension, Renal corticomedullary cysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613159
Methylcobalamin Deficiency Type Cble
Hemolytic-uremic syndrome, Hypertension ORPHA:2169
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Irregular menstruation, Nephrolithiasis, Hypertension, Abnormal... ORPHA:189427
Morgagni-Stewart-Morel Syndrome
Hypertension ORPHA:77296
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:605373
Extracranial Carotid Artery Aneurysm
Subarachnoid hemorrhage, Vasculitis, Hypertension, Cerebral ischemia, Arteritis ORPHA:494424
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hypertension, Nephrotic syndrome, Fo... OMIM:194080
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Cryptorchidism, Umbilical hernia, Hypertension ORPHA:1555
Infant Botulism
Hypertension, Cardiac arrest, Hypotension ORPHA:178478
Serotonin Syndrome
Hypertension, Tachycardia, Acute kidney injury, Hypotension ORPHA:43116
Abdominal Obesity-Metabolic Syndrome 4
Hypertension, Myocardial infarction OMIM:618620
Glycogen Storage Disease Ia
Proteinuria, Nephrolithiasis, Hypertension, Focal segmental glomerulosclerosis, Enlarged kidney, ... OMIM:232200
Pituitary Apoplexy
Hypergonadotropic hypogonadism, Hypertension, Impotence, Oligomenorrhea, Hypotension ORPHA:95613
Cirrhosis, Familial
Hypertension, Pulmonary arterial hypertension, Increased level of L-fucose in urine OMIM:215600
Xfe Progeroid Syndrome
Hypertension, Renal insufficiency, Premature ovarian insufficiency, Proteinuria OMIM:610965
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Nephrotic... OMIM:617729
Alport Syndrome
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephro... ORPHA:63
Renal Agenesis
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, Hypertension ORPHA:411709
Alport Syndrome 1, X-Linked
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Nephrotic syndrom... OMIM:301050
Arteriosclerosis, Severe Juvenile
Hypertension, Chronic kidney disease, Myocardial infarction OMIM:208060
Pseudohypoaldosteronism, Type Iie
Hypertension OMIM:614496
Fragile X-Associated Tremor/Ataxia Syndrome
Pollakisuria, Hypertension, Impotence, Hypotension, Urinary bladder sphincter dysfunction ORPHA:93256
Arterial Tortuosity Syndrome
Aortic regurgitation, Hypertension, Ischemic stroke, Umbilical hernia, Aortic valve stenosis, Tel... OMIM:208050
Stiff-Person Syndrome
Hypertension, Tachycardia OMIM:184850
Isolated Ectopia Lentis
Hypertension ORPHA:1885
Apparent Mineralocorticoid Excess
Hypertension OMIM:218030
Sickle Cell Disease
Hematuria, Hypertension, Renal insufficiency, Priapism OMIM:603903
Scorpion Envenomation
Bundle branch block, Tachycardia, Ketonuria, Cardiac conduction abnormality, Congestive heart fai... ORPHA:466677
Neuroleptic Malignant Syndrome
Tachycardia, Proteinuria, Urinary incontinence, Pulmonary embolism, Myoglobinuria, Hypertension, ... ORPHA:94093
Glycogen Storage Disease Ib
Proteinuria, Nephrolithiasis, Hypertension, Focal segmental glomerulosclerosis, Enlarged kidney, ... OMIM:232220
Wagro Syndrome
Hypertension, Proteinuria, Decreased testicular size OMIM:612469
Arima Syndrome
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Renal corticomedu... OMIM:243910
Acute Intermittent Porphyria
Dark urine, Tachycardia, Renal insufficiency, Urinary incontinence, Dysuria, Porphyrinuria, Hyper... ORPHA:79276
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Oligozoospermia, Hypertension, Infertility, Oligomenorrhea ORPHA:786
Pheochromocytoma/Paraganglioma Syndrome 1
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:168000
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Renal insufficiency, Angina pectoris, Transient... ORPHA:324
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Polyuria, Renal salt wasting, Hypertension, Enuresis, Hypocalciuria, Renal sodium wasting, Renal ... OMIM:612780
Primary Progressive Freezing Gait
Hypertension, Urinary incontinence ORPHA:75567
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina pectoris, ... ORPHA:900
Spondyloenchondrodysplasia
Proteinuria, Raynaud phenomenon, Chronic kidney disease, Vasculitis, Hematuria, Hypertension ORPHA:1855
Aortic Arch Interruption
Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substantially higher in arms... ORPHA:2299
Senior-Boichis Syndrome
Portal hypertension, Chronic kidney disease, Renal hypoplasia, Stage 5 chronic kidney disease, Hy... ORPHA:84081
Beta-Ketothiolase Deficiency
Hypertension, Ketonuria, Hypotension ORPHA:134
Ectopic Aldosterone-Producing Tumor
Hypertension, Epistaxis ORPHA:231632
Pseudohypoaldosteronism, Type Iic
Hypertension OMIM:614492
Cockayne Syndrome Type 1
Renal insufficiency, Proteinuria, Cryptorchidism, Hypertension, Male hypogonadism ORPHA:90321
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Renal hypoplasia, Nephrocalcinosis, Hypertension, Aminoaciduria, Renal artery stenosis, Hydroneph... OMIM:617913
Pigmented Nodular Adrenocortical Disease, Primary, 4
Hypertension OMIM:615830
Glycogen Storage Disease Ic
Renal insufficiency, Proteinuria, Spider hemangioma, Hematuria, Hypertension, Focal segmental glo... OMIM:232240
Cutis Marmorata Telangiectatica Congenita
Hypertension, Telangiectasia OMIM:219250
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hemolytic-uremic syndrome, Hypertension, Anuria, Acute kidney injury OMIM:235400
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Proteinuria, Epistaxis, Irregular menstruation, Stage 5 chronic kidney disease, Nephrolithiasis, ... ORPHA:79259
Familial Pseudohyperkalemia
Hypertension ORPHA:90044
Acquired Generalized Lipodystrophy
Cardiomyopathy, Abnormal cardiovascular system physiology, Hypertension, Proteinuria ORPHA:79086
Gaisböck Syndrome
Angina pectoris, Myocardial infarction, Hypovolemia, Elevated diastolic blood pressure, Nephrocal... ORPHA:90041
Familial Dysautonomia
Hypertension, Orthostatic hypotension, Renal insufficiency, Tachycardia ORPHA:1764
Acth-Independent Macronodular Adrenal Hyperplasia
Hypertension OMIM:219080
Prader-Willi Syndrome
Cryptorchidism, Primary amenorrhea, Hypertension, Hypogonadism, Infertility, Decreased testicular... ORPHA:739
Pigmented Nodular Adrenocortical Disease, Primary, 2
Hypertension OMIM:610475
Alkaptonuria
Myocardial infarction, Nephrolithiasis, Hypertension, Aminoaciduria, Prostatitis ORPHA:56
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Myoc... ORPHA:3342
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Internal hemorrhage, Hemoperitoneum, Bra... ORPHA:99827
Overlap Myositis
Raynaud phenomenon, Hypertension, Pulmonary arterial hypertension ORPHA:206572
Acute Interstitial Pneumonia
Hypertension ORPHA:79126
Hunter-Macdonald Syndrome
Aortic regurgitation, Hypospadias, Hypertension, Mitral regurgitation, Umbilical hernia OMIM:611962
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Hypertension, Atrioventricular block ORPHA:371428
Au-Kline Syndrome
Cryptorchidism, Chronic kidney disease, Lipomyelomeningocele, Hypertension, Vesicoureteral reflux... OMIM:616580
Postinfectious Vasculitis
Cerebral vasculitis, Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis, O... ORPHA:48435
Myhre Syndrome
Abnormal penis morphology, Hypospadias, Cryptorchidism, Epispadias, Hypertension, Hypogonadism ORPHA:2588
Von Hippel-Lindau Disease
Elevated urinary catecholamine level, Myocardial infarction, Myocarditis, Abnormal left ventricul... ORPHA:892
Poliomyelitis
Hypertension, Hypovolemic shock, Hypotension ORPHA:2912
Hallermann-Streiff Syndrome
Spina bifida, Cryptorchidism, Telangiectasia, Hypertension, Pulmonary arterial hypertension OMIM:234100
Seckel Syndrome 10
Hypertension, Congestive heart failure, Glycosuria OMIM:617253
Carey-Fineman-Ziter Syndrome
Hydronephrosis, Glandular hypospadias, Hypertensive crisis ORPHA:1358
Acute Transverse Myelitis
Orthostatic hypotension, Urinary incontinence, Subarachnoid hemorrhage, Hypertension, Urinary ret... ORPHA:139417
Hurler Syndrome
Cardiomyopathy, Mucopolysacchariduria, Hypertension, Angina pectoris ORPHA:93473
Bardet-Biedl Syndrome 1
Hypertension, Micropenis, Hypogonadism, Decreased testicular size OMIM:209900
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hypertension ORPHA:449291
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Stage 5 chronic kidney disease, Renal cyst, Hypertension, Nephronophthisis,... OMIM:266920
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Transient ischemic attack, Subarachnoid hemorrhage, Hypovolemia, Abnormal l... ORPHA:91387
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Decreased fertility, Primary amenorrhea, ... ORPHA:95699
Marshall-Smith Syndrome
Bilateral cryptorchidism, Cryptorchidism, Premature ventricular contraction, Hypertension, Umbili... OMIM:602535
Pheochromocytoma/Paraganglioma Syndrome 4
Tachycardia, Elevated urinary catecholamine level, Palpitations, Hypertension associated with phe... OMIM:115310
Cushing Disease
Increased urinary cortisol level, Myocardial infarction, Secondary amenorrhea, Hypertension, Capi... ORPHA:96253
Multisystemic Smooth Muscle Dysfunction Syndrome
Cryptorchidism, Hypertension, Pulmonary arterial hypertension OMIM:613834
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia OMIM:614653
Beare-Stevenson Cutis Gyrata Syndrome
Hypertension, Hypospadias OMIM:123790
Nestor-Guillermo Progeria Syndrome
Right bundle branch block, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, S... OMIM:614008
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hypertension OMIM:616914
Pseudohypoparathyroidism Type 1A
Prolonged QT interval, Hypergonadotropic hypogonadism, Hypertension, Oligomenorrhea, Low urinary ... ORPHA:79443
Abdominal Obesity-Metabolic Syndrome 3
Hypertension, Myocardial infarction OMIM:615812
Livedoid Vasculopathy
Telangiectasia of the skin, Hypertension, Ischemic stroke ORPHA:542643
Cockayne Syndrome A
Renal insufficiency, Proteinuria, Cryptorchidism, Irregular menstruation, Micropenis, Hypertensio... OMIM:216400
Autosomal Dominant Dopa-Responsive Dystonia
Hypertension ORPHA:98808
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Fingerpad telangiectas... OMIM:600376
Carney Triad
Gastrointestinal hemorrhage, Hypertension, Tachycardia, Arrhythmia ORPHA:139411
Bartter Syndrome Type 4
Renal salt wasting, Increased urinary potassium, Impaired renal concentrating ability, Chronic ki... ORPHA:89938
Neurofibromatosis, Type I
Hypertension, Renal artery stenosis, Spina bifida OMIM:162200
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypertension, Long penis, Decreased testicular size OMIM:202010
Acromegaly
Hypogonadotropic hypogonadism, Dysmenorrhea, Dysuria, Wide penis, Long penis, Hypertension, Impot... ORPHA:963
Somatomammotropinoma
Hypogonadotropic hypogonadism, Dysmenorrhea, Dysuria, Hypertension, Impotence, Mitral regurgitati... ORPHA:314769
Hardikar Syndrome
Renal insufficiency, Hydroureter, Portal hypertension, Hematemesis, Pyelonephritis, Hypertension,... OMIM:301068
Paroxysmal Nocturnal Hemoglobinuria
Hemosiderinuria, Renal insufficiency, Proteinuria, Myocardial infarction, Pulmonary embolism, Chr... ORPHA:447
Alexander Disease
Hypotension, Hypertension, Sudden cardiac death ORPHA:58
Apert Syndrome
Hypertension ORPHA:87
Classic Homocystinuria
Gastrointestinal hemorrhage, Pulmonary embolism, Intracranial hemorrhage, Hypertension, Cerebral ... ORPHA:394
Orofaciodigital Syndrome I
Hypertension, Myelomeningocele, Proteinuria, Polycystic kidney dysplasia OMIM:311200
Von Hippel-Lindau Syndrome
Hypertension, Multiple renal cysts OMIM:193300
Systemic Lupus Erythematosus
Proteinuria, Lupus nephritis, Pyuria, Raynaud phenomenon, Hematuria, Hypertension ORPHA:536
Nelson Syndrome
Intracranial hemorrhage, Hypertension, Increased urinary cortisol level, Testicular neoplasm ORPHA:199244
Lmna-Related Cardiocutaneous Progeria Syndrome
Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral regurgitation, Aortic val... ORPHA:363618
Scalp-Ear-Nipple Syndrome
Duplication of renal pelvis, Hypertension, Ureteral duplication, Pyelonephritis ORPHA:2036
Pierson Syndrome
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Retinal hemorrhage, Hyp... OMIM:609049
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Anuria, Myocardial infarction, Hemoglobinuria, Hypertension, Acute kidney injury ORPHA:90038
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Hypertension, Shortened PR interval OMIM:614947
Scalp-Ear-Nipple Syndrome
Renal insufficiency, Unilateral renal agenesis, Congestive heart failure, Renal hypoplasia, Pyelo... OMIM:181270
Low Phospholipid-Associated Cholelithiasis
Hypertension ORPHA:69663
Mucopolysaccharidosis Type 2, Severe Form
Heparan sulfate excretion in urine, Heart murmur, Dermatan sulfate excretion in urine, Cardiomyop... ORPHA:217085
Infection-Related Hemolytic Uremic Syndrome
Anuria, Myocarditis, Oliguria, Hypertension, Acute kidney injury, Nephrotic range proteinuria, De... ORPHA:544482
Mucopolysaccharidosis Type 2, Attenuated Form
Heparan sulfate excretion in urine, Heart murmur, Dermatan sulfate excretion in urine, Cardiomyop... ORPHA:217093
Williams Syndrome
Hypoplasia of penis, Myocardial infarction, Nephrocalcinosis, Vesicoureteral reflux, Pelvic kidne... ORPHA:904
Xq21 Microdeletion Syndrome
Hypertension, Renal artery stenosis ORPHA:1435
Aorta Coarctation
Congestive heart failure, Hypertension, Pulmonary arterial hypertension ORPHA:1457
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Portal hypertension, Raynaud phenomenon, Vasculitis, Dilated cardiomyopathy, Hypertension OMIM:615688
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Renal insufficiency, Portal hypertension, Oliguria, Stage 5 chronic ... ORPHA:731
Smith-Lemli-Opitz Syndrome
Ureteropelvic junction obstruction, Hypospadias, Unilateral renal agenesis, Cryptorchidism, Renal... OMIM:270400
Aicardi-Goutieres Syndrome 7
Hematemesis, Vasculitis, Hematochezia, Hypertension, Nephrotic syndrome, Hypertrophic cardiomyopathy OMIM:615846
Cockayne Syndrome B
Renal insufficiency, Proteinuria, Cryptorchidism, Micropenis, Hypertension, Arrhythmia OMIM:133540
Atypical Werner Syndrome
Premature ovarian insufficiency, Telangiectasia of the skin, Congestive heart failure, Decreased ... ORPHA:79474
Hutchinson-Gilford Progeria Syndrome
Aortic regurgitation, Mitral stenosis, Female hypogonadism, Angina pectoris, Myocardial infarctio... ORPHA:740
Cockayne Syndrome
Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen... ORPHA:191
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Hypertension, Hydronephrosis ORPHA:2750
Multiple Endocrine Neoplasia Type 1
Hematemesis, Shortened QT interval, Nephrolithiasis, Hypercalciuria, Melena, Hypertension, Impote... ORPHA:652
Multiple Endocrine Neoplasia Type 2
Elevated urinary catecholamine level, Elevated urinary norepinephrine level, Nephrolithiasis, Hyp... ORPHA:653
Williams-Beuren Syndrome
Renal insufficiency, Portal hypertension, Urethral stenosis, Renal hypoplasia, Hypercalciuria, Ne... OMIM:194050
Tuberous Sclerosis Complex
Renal insufficiency, Chronic kidney disease, Stage 5 chronic kidney disease, Renal cyst, Hyperten... ORPHA:805
Turner Syndrome Due To Structural X Chromosome Anomalies
Prolonged QT interval, Premature ovarian insufficiency, Female infertility, Myocardial infarction... ORPHA:99413
Turner Syndrome
Prolonged QT interval, Premature ovarian insufficiency, Female infertility, Myocardial infarction... ORPHA:881
Mosaic Monosomy X
Prolonged QT interval, Premature ovarian insufficiency, Female infertility, Myocardial infarction... ORPHA:99228
Monosomy X
Prolonged QT interval, Premature ovarian insufficiency, Female infertility, Myocardial infarction... ORPHA:99226
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Hypospadias, Spina bifida, Cryptorchidism, Meningocele, Renal hypopl... ORPHA:567
Familial Bicuspid Aortic Valve
Aortic regurgitation, Hypertension, Aortic valve stenosis, Heart murmur ORPHA:402075
Homozygous Familial Hypercholesterolemia
Angina pectoris, Sudden cardiac death, Myocardial infarction, Heart murmur, Abnormal left ventric... ORPHA:391665
Yunis-Varon Syndrome
Hypospadias, Cryptorchidism, Renovascular hypertension, Hypertension, Cardiomyopathy, Renal arter... ORPHA:3472
Mucopolysaccharidosis Type 2
Cardiomyopathy, Arrhythmia, Umbilical hernia, Hypertension ORPHA:580
Cranioectodermal Dysplasia 2
Hypertension, Renal insufficiency, Renal cyst OMIM:613610
Adams-Oliver Syndrome 1
Encephalocele, Hypertension, Pulmonic stenosis, Pulmonary arterial hypertension, Aortic valve ste... OMIM:100300
Familial Osteodysplasia, Anderson Type
Hypertension ORPHA:2769
Myhre Syndrome
Cryptorchidism, Aortic valve stenosis, Hypertension OMIM:139210
Immunodeficiency 87 And Autoimmunity
Hypertension, Third degree atrioventricular block, Dilated cardiomyopathy, Pulmonary arterial hyp... OMIM:619573
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cryptorchidism, Renal hypoplasia, Renal cyst, Hypertension, Polycystic kidney dysplasia, Micropenis OMIM:210710
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Multicystic kidney dysplasia, Hypospadias, Unilateral renal agenesis, Cryptorchidism, Hypertensio... OMIM:308205
Lipodystrophy, Familial Partial, Type 2
Hypertension OMIM:151660
Blau Syndrome
Hypertension, Pericarditis OMIM:186580
Cushing Syndrome Due To Ectopic Acth Secretion
Increased urinary cortisol level, Myocardial infarction, Secondary amenorrhea, Hypertension, Capi... ORPHA:99889
Blau Syndrome
Pericarditis, Stage 5 chronic kidney disease, Large vessel vasculitis, Hypertension, Pulmonary ar... ORPHA:90340
17Q11 Microdeletion Syndrome
Telangiectasia of the skin, Renovascular hypertension, Hypertension, Renal artery stenosis, Pulmo... ORPHA:97685
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hypospadias, Cryptorchidism, Vesicovaginal fistula, Primary amenorrhea, Horseshoe kidney, Hyperte... OMIM:201750
Congenital Disorder Of Glycosylation, Type Iim
Ureteropelvic junction obstruction, Hypertension, Vesicovaginal fistula OMIM:300896
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Ketonuria, Hypospadias, Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy OMIM:220111
Generalized Arterial Calcification Of Infancy
Hyperphosphaturia, Transient ischemic attack, Retinal hemorrhage, Nephrocalcinosis, Hypertension,... ORPHA:51608
Lipodystrophy, Familial Partial, Type 7
Hypertension, Orthostatic hypotension, Pulmonary arterial hypertension, Polyuria OMIM:606721
Carney Complex
Sertoli cell neoplasm, Testicular neoplasm, Congestive heart failure, Testicular adrenal rest tum... ORPHA:1359
Neurofibromatosis Type 1
Cryptorchidism, Hypertension ORPHA:636
Vascular Ehlers-Danlos Syndrome
Telangiectasia of the skin, Transient ischemic attack, Hypospadias, Cryptorchidism, Cystocele, Re... ORPHA:286
Alström Syndrome
Urinary incontinence, Functional abnormality of the bladder, Hypoplasia of the Leydig cells, Micr... 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
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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