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
Chronic kidney disease, Elevated systolic blood pressure, Acute kidney injury, Proteinuria, Hyper... 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
Focal Segmental Glomerulosclerosis 2
Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Hype... OMIM:603965
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Proteinuria, Hypertension, Microscopic hematuria, Stage 5 chr... OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Hypertension OMIM:607832
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Coronary Artery Disease, Autosomal Dominant, 1
Myocardial infarction, Hypertension OMIM:608320
Congenital Pulmonary Veins Atresia Or Stenosis
Hypertension ORPHA:3188
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
Nephrotic syndrome, Renal insufficiency, Proteinuria, Hypertension, Microscopic hematuria, Stage ... OMIM:601894
Lessel-Kubisch Syndrome
Hypertension, Renal hypoplasia, Renal insufficiency, Hypogonadism OMIM:618681
Nail-Patella-Like Renal Disease
Hypertension, Microscopic hematuria, Renal insufficiency, Proteinuria ORPHA:2613
Renal Failure, Progressive, With Hypertension
Nephritis, Renal insufficiency, Proteinuria, Hypertension, Microscopic hematuria, Stage 5 chronic... OMIM:161900
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Nephropathy, Renal insufficiency, Proteinuria, Hypertension, Microscopic hema... OMIM:137950
Preeclampsia/Eclampsia 1
Hypertension, Proteinuria OMIM:189800
Iga Nephropathy, Susceptibility To, 2
Nephritis, Hematuria, Proteinuria, Hypertension, Stage 5 chronic kidney disease OMIM:613944
Iga Nephropathy, Susceptibility To, 3
Hypertension, Hematuria, Proteinuria, Stage 5 chronic kidney disease OMIM:616818
Senior-Loken Syndrome
Chronic kidney disease, Nephronophthisis, Stage 5 chronic kidney disease, Hypertension, Premature... ORPHA:3156
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hypertension, Proteinuria, Stage 5 chronic kidney disease OMIM:603278
Morbid Obesity And Spermatogenic Failure
Infertility, Oligospermia, Myocardial infarction, Azoospermia, Hypertension, Congestive heart fai... OMIM:615703
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2
Hypertension, Transient ischemic attack, Lacunar stroke OMIM:616779
Trimethylaminuria
Trimethylaminuria, Hypertension, Tachycardia OMIM:602079
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension OMIM:166990
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Nephrotic syndrome, Myocardial infarction, Acute kidney injury, Renal ins... ORPHA:54370
Arterial Calcification, Generalized, Of Infancy, 2
Myocardial infarction, Nephrocalcinosis, Hypertension, Congestive heart failure OMIM:614473
Cystic Hamartoma Of Lung And Kidney
Hypertension, Multicystic kidney dysplasia ORPHA:2111
Iga Nephropathy, Susceptibility To, 1
Nephritis, Hematuria, Proteinuria, Hypertension, Stage 5 chronic kidney disease OMIM:161950
Moyamoya Disease 6 With Or Without Achalasia
Hypertension, Impotence, Ischemic stroke, Raynaud phenomenon OMIM:615750
Glucocorticoid Resistance, Generalized
Infertility, Irregular menstruation, Hypertension OMIM:615962
Coronary Artery Disease, Autosomal Dominant 2
Myocardial infarction, Sudden cardiac death, Hypertension OMIM:610947
Paragangliomas 6
Hypertension OMIM:618464
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Acute kidney injury, Renal insufficiency, Proteinuria, Glomerulonephritis, Hy... ORPHA:567544
Liddle Syndrome
Nephropathy, Arrhythmia, Cerebral ischemia, Renal insufficiency, Hypertension ORPHA:526
Maternally-Inherited Diabetes And Deafness
Arrhythmia, Renal insufficiency, Proteinuria, Hypertension, Hypertrophic cardiomyopathy, Congesti... ORPHA:225
Melorheostosis With Osteopoikilosis
Hypertension ORPHA:1879
Frasier Syndrome
Nephrotic syndrome, Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Focal segme... ORPHA:347
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Fibronectin Glomerulopathy
Nephrotic syndrome, Cerebral hemorrhage, Renal insufficiency, Proteinuria, Hypertension, Microsco... ORPHA:84090
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Arrhythmia, Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure ORPHA:1345
Hypertension And Brachydactyly Syndrome
Hypertension OMIM:112410
Preeclampsia
Chronic kidney disease, Elevated systolic blood pressure, Acute kidney injury, Proteinuria, Hyper... ORPHA:275555
Coproporphyria, Hereditary
Hypertension, Increased urinary porphobilinogen, Elevated urinary delta-aminolevulinic acid, Tach... OMIM:121300
Amyloidosis, Familial Visceral
Nephrotic syndrome, Nephropathy, Hematuria, Proteinuria, Hypertension OMIM:105200
Plin1-Related Familial Partial Lipodystrophy
Infertility, Oligomenorrhea, Hypertension ORPHA:280356
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Hypertension, Telangiectases producing 'marbled' skin OMIM:206570
C3 Glomerulopathy
Chronic kidney disease, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Hematuria, ... ORPHA:329918
Lipodystrophy, Familial Partial, Type 4
Hypertension, Oligomenorrhea OMIM:613877
Denys-Drash Syndrome
Hypertension, Nephrotic syndrome, Nephropathy, Proteinuria ORPHA:220
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Arrhythmia, Hypertension, Con... OMIM:540000
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Cardiomyopathy, Arrhythmia, Renal insufficiency ORPHA:3222
Hyperaldosteronism, Familial, Type Ii
Hypertension OMIM:605635
Multiple Mitochondrial Dysfunctions Syndrome 1
Hypertension, Pulmonary arterial hypertension OMIM:605711
Potocki-Shaffer Syndrome
Hypertension, Micropenis ORPHA:52022
Aapoaiv Amyloidosis
Chronic kidney disease, Left bundle branch block, Sinus bradycardia, Abnormal renal medulla morph... ORPHA:439232
Familial Cervical Artery Dissection
Recurrent cerebral hemorrhage, Subarachnoid hemorrhage, Cerebral ischemia, Hypertension, Transien... ORPHA:36382
Adenine Phosphoribosyltransferase Deficiency
Nephrolithiasis, Dysuria, Chronic kidney disease, Macroscopic hematuria, Oliguria, Urinary hesita... ORPHA:976
Sneddon Syndrome
Hypertension, Intracranial hemorrhage, Nephropathy ORPHA:820
Moyamoya Disease With Early-Onset Achalasia
Hypertension, Raynaud phenomenon ORPHA:401945
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... OMIM:602088
Ochoa Syndrome
Renal insufficiency, Hydronephrosis, Urethral obstruction, Hypertension, Vesicoureteral reflux, U... ORPHA:2704
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hypertension, Polycystic kidney dysplasia OMIM:600666
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hypertension, Nephrotic syndrome, Nephropathy, Proteinuria ORPHA:1192
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Mitral regurgitation, Polycystic kidney dysplasia, Renal insufficiency, Hypertension OMIM:173900
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation OMIM:615378
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Hypertension, Renal insufficiency, Decreased glomerular filtration rate, Stage 5 chronic kidney d... OMIM:618061
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Arrhythmia OMIM:617021
Tako-Tsubo Cardiomyopathy
Angina pectoris, ST segment depression, Mitral regurgitation, Palpitations, Decreased QRS voltage... ORPHA:66529
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Hypertension, Primary amenorrhea OMIM:202110
Liddle Syndrome 3
Hypertension OMIM:618126
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypospadias, Hypertension, Renal salt wasting OMIM:201910
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension OMIM:616069
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Cerebral hemorrhage, Hypergonadotropic hypogonadism, Dilated cardiomyopathy, Azoospermia, Ischemi... ORPHA:280679
Coenzyme Q10 Deficiency, Primary, 8
Abnormal renal corticomedullary differentiation, Hypertension OMIM:616733
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Abnormality of the ureter, Renal insufficiency... ORPHA:93101
Peripartum Cardiomyopathy
Left bundle branch block, Abnormal T-wave, Mitral regurgitation, Right ventricular failure, Tachy... ORPHA:563
Alagille Syndrome 2
Renal tubular acidosis, Pulmonic stenosis, Hematuria, Renal cyst, Renal hypoplasia, Renal insuffi... OMIM:610205
Multicentric Carpotarsal Osteolysis Syndrome
Renal insufficiency, Hypertension, Proteinuria, Stage 5 chronic kidney disease OMIM:166300
Grange Syndrome
Hypertension, Aortic regurgitation ORPHA:79094
Takayasu Arteritis
Hypertrophic cardiomyopathy, Cerebral ischemia, Vasculitis, Myocardial infarction, Hypertensive c... ORPHA:3287
Corticosteroid-Binding Globulin Deficiency
Hypertension, Hypotension OMIM:611489
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Decreased glomerular filtration rate, Impaired renal uric acid clearance, Hypotension, Tubulointe... OMIM:174000
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertension ORPHA:71529
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis, Proteinuria, Hypertension, Stage 5 chroni... OMIM:618913
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Protein... OMIM:171420
Non-Functioning Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:94080
Pituitary Adenoma 1, Multiple Types
Hypertension, Irregular menstruation, Cardiomyopathy OMIM:102200
Nephronophthisis 1
Nephronophthisis, Polyuria, Hyposthenuria, Tubulointerstitial fibrosis, Hypertension, Renal corti... OMIM:256100
Familial Partial Lipodystrophy, Köbberling Type
Hypertension ORPHA:79084
Joubert Syndrome 14
Renal cyst, Encephalocele, Hypertension OMIM:614424
Riboflavin Transporter Deficiency
Hypertension, Hypogonadism ORPHA:97229
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Cerebral hemorrhage, Intracranial hemorrhage, Stress urinary incontinence, Cerebral ischemia, Lac... ORPHA:136
Congenital Hypothyroidism
Nephrolithiasis, Arrhythmia, Hypotension, Abnormality of reproductive system physiology, Umbilica... ORPHA:442
Pparg-Related Familial Partial Lipodystrophy
Dysmenorrhea, Oligomenorrhea, Primary amenorrhea, Secondary amenorrhea, Hypertension, Hypertrophi... ORPHA:79083
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Hypertension, Pulmonary arterial hypertension OMIM:613355
Glutaric Aciduria Iii
Hypertension, Glutaric aciduria OMIM:231690
Lipodystrophy, Familial Partial, Type 5
Hypertension, Irregular menstruation OMIM:615238
Bardet-Biedl Syndrome
Hypoplasia of the ovary, Nephrotic syndrome, Hypoplasia of penis, Multicystic kidney dysplasia, H... ORPHA:110
Methanol Poisoning
Permanent atrial fibrillation, Cerebral hemorrhage, Inflammatory arteriopathy, Intracranial hemor... ORPHA:31825
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Hypertension, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure ORPHA:1349
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Unilateral renal agenesis, Hypertension, Pulmonary arterial hypertension OMIM:608406
Renal Hypodysplasia/Aplasia 1
Hypertension, Primary amenorrhea, Proteinuria OMIM:191830
Rhabdoid Tumor
Hypertension, Hematuria, Internal hemorrhage ORPHA:69077
Coach Syndrome 1
Nephronophthisis, Unilateral renal agenesis, Renal cyst, Multiple small medullary renal cysts, Po... OMIM:216360
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Abnormal renal physiology, Hematuria, Proteinuria, Hypertension OMIM:123550
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Absence of renal corticomedullary differentiation, Tubulointerstitial fibrosis, Enlarged kidney, ... OMIM:263200
Pseudoxanthoma Elasticum
Angina pectoris, Intermittent claudication, Mitral stenosis, Restrictive cardiomyopathy, Weak pul... OMIM:264800
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Hypertension, Tachycardia, Micropenis OMIM:613870
Pheochromocytoma
Congestive heart failure, Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Epis... OMIM:171300
Lipodystrophy, Familial Partial, Type 3
Oligomenorrhea, Primary amenorrhea, Hypertension OMIM:604367
Oligomeganephronia
Decreased glomerular filtration rate, Unilateral renal agenesis, Bilateral renal hypoplasia, Prot... ORPHA:2260
Caudal Regression Syndrome
Abnormality of the ureter, Ureteral duplication, Arrhinencephaly, Renal insufficiency, Ectopic ki... ORPHA:3027
Lead Poisoning
Renal tubular dysfunction, Infertility, Chronic kidney disease, Decreased male libido, Reduced sp... ORPHA:330015
Sneddon Syndrome
Hypertension, Ischemic stroke, Cerebral hemorrhage OMIM:182410
Hereditary Amyloidosis With Primary Renal Involvement
Nephrotic syndrome, Decreased glomerular filtration rate, Hypertension, Oligospermia, Nocturia, N... ORPHA:85450
Posterior Urethral Valve
Dysuria, Chronic kidney disease, Urinary retention, Urethral stenosis, Renal insufficiency, Hydro... ORPHA:93110
Fabry Disease
Angina pectoris, Arrhythmia, Myocardial infarction, Renal insufficiency, Proteinuria, Lipiduria, ... OMIM:301500
Erythrocytosis, Familial, 1
Myocardial infarction, Cerebral hemorrhage, Hypertension OMIM:133100
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... ORPHA:730
Stiff Skin Syndrome
Nephrolithiasis, Hypertension ORPHA:2833
Familial Hyperaldosteronism Type Iii
Intracranial hemorrhage, Hypercalciuria, Prolonged QT interval, Hypertension, Epistaxis ORPHA:251274
Igg4-Related Retroperitoneal Fibrosis
Dysuria, Nephrotic syndrome, Impotence, Budd-Chiari syndrome, Hematuria, Membranous nephropathy, ... ORPHA:49041
Heme Oxygenase 1 Deficiency
Nephritis, Hematuria, Proteinuria, Hypertension, Diffuse alveolar hemorrhage, Epistaxis OMIM:614034
X-Linked Hypohidrotic Ectodermal Dysplasia
Hypertension ORPHA:181
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hematuria, Acute kidney injury, Proteinuria, Hypertension, Anuria, Stage 5 chronic kidney disease... OMIM:612925
Alport Syndrome 2, Autosomal Recessive
Nephrotic syndrome, Nephritis, Hematuria, Renal insufficiency, Proteinuria, Hypertension, Stage 5... OMIM:203780
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypertension associated with pheochromocytoma, Congestive heart failure, Positive regitine blocki... ORPHA:276621
Pseudohypoaldosteronism, Type Iia
Hypertension OMIM:145260
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hematuria, Acute kidney injury, Proteinuria, Hypertension, Anuria, Hemolytic-uremic syndrome OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hematuria, Acute kidney injury, Proteinuria, Hypertension, Anuria, Hemolytic-uremic syndrome OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hematuria, Acute kidney injury, Proteinuria, Hypertension, Anuria, Hemolytic-uremic syndrome OMIM:612926
Acquired Aneurysmal Subarachnoid Hemorrhage
ST segment depression, Cerebral hemorrhage, Cerebral ischemia, Syncope, Prolonged QTc interval, M... ORPHA:90065
Polyarteritis Nodosa
Hypertension, Pericarditis, Cardiomyopathy, Raynaud phenomenon ORPHA:767
Primary Lipodystrophy
Angina pectoris, Menometrorrhagia, Hypertension, Cardiomyopathy, Congestive heart failure ORPHA:90970
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hematuria, Acute kidney injury, Proteinuria, Hypertension, Anuria, Hemolytic-uremic syndrome OMIM:612922
Lipodystrophy, Familial Partial, Type 1
Hypertension OMIM:608600
Systemic Lupus Erythematosus 17
Mitral regurgitation, Raynaud phenomenon, Hypertensive crisis OMIM:301080
Denys-Drash Syndrome
Nephrotic syndrome, Diffuse mesangial sclerosis, Nephropathy, Focal segmental glomerulosclerosis,... OMIM:194080
Tessadori-Van Haaften Neurodevelopmental Syndrome 1
Hypertension, Renal hypoplasia, Umbilical hernia, Absence of renal corticomedullary differentiation OMIM:619758
Alport Syndrome 3, Autosomal Dominant
Nephrotic syndrome, Nephritis, Hematuria, Renal insufficiency, Proteinuria, Glomerulonephritis, H... OMIM:104200
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Hypertension OMIM:605115
Schimke Immuno-Osseous Dysplasia
Congestive heart failure, Nephrotic range proteinuria, Nephropathy, Cerebral ischemia, Focal segm... ORPHA:1830
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Nephrolithiasis, Intracranial hemorrhage, Second degree atrioventricular block, Hypertension, Pul... ORPHA:369929
Tetanus
Tachycardia, Hypertension, Elevated urinary epinephrine, Elevated urinary norepinephrine, Bradyca... ORPHA:3299
Ganglioneuroma
Gastrointestinal hemorrhage, Hypertension ORPHA:251992
Pseudohypoaldosteronism Type 2
Hypertension ORPHA:757
Coach Syndrome 2
Hypertension OMIM:619111
Diffuse Cutaneous Systemic Sclerosis
Telangiectasia of the skin, Dyspareunia, Oliguria, Renal insufficiency, Hypertensive crisis, Pulm... ORPHA:220393
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Raynaud phenomenon, Hypertension, Nephropathy, Retinal neovascularization, Proteinuria, Gastroint... ORPHA:247691
Lipodystrophy, Familial Partial, Type 6
Hypertension OMIM:615980
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertension ORPHA:363400
Familial Cerebral Saccular Aneurysm
Hypertension, Intracranial hemorrhage, Transient ischemic attack, Subarachnoid hemorrhage ORPHA:231160
Nephroblastoma
Hypertension, Hematuria ORPHA:654
Simple Cryoglobulinemia
Nephrotic syndrome, Nephritis, Raynaud phenomenon, Membranoproliferative glomerulonephritis, Vasc... ORPHA:91139
Arterial Calcification, Generalized, Of Infancy, 1
Renal artery stenosis, Myocardial infarction, Dilated cardiomyopathy, Hypertension, Congestive he... OMIM:208000
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Hypertension, Pulmonary arterial hypertension OMIM:613623
Postorgasmic Illness Syndrome
Hypertension, Palpitations ORPHA:279947
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Abnormal T-wave, Increased urinary potassium, Palpitations, Intracranial hemorrhage, Hypertension... ORPHA:231625
Renal Dysplasia
Chronic kidney disease, Vesicovaginal fistula, Moderate proteinuria, Ureterocele, Ureteral atresi... ORPHA:93108
Liddle Syndrome 1
Hypertension, Renal insufficiency OMIM:177200
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Infertility, Impotence, Decreased fertility in males, Hypogonadotrop... ORPHA:91347
Schimke Immunoosseous Dysplasia
Nephrotic syndrome, Cerebral ischemia, Focal segmental glomerulosclerosis, Proteinuria, Renal ins... OMIM:242900
Familial Hyperaldosteronism Type Ii
Hypertension, Intracranial hemorrhage, Epistaxis ORPHA:404
Alstrom Syndrome
Nephritis, Hypergonadotropic hypogonadism, Irregular menstruation, Tubulointerstitial nephritis, ... OMIM:203800
Aicardi-Goutieres Syndrome 9
Micropenis, Renal insufficiency, Proteinuria, Portal hypertension, Increased blood pressure, Hype... OMIM:619487
Eosinophilic Granulomatosis With Polyangiitis
Recurrent intrapulmonary hemorrhage, Hematuria, Myocarditis, Vasculitis, Myocardial infarction, T... ORPHA:183
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Multiple renal cysts, Polycystic kidney dysplasia, Renal insufficiency, Hypertension, Stage 5 chr... OMIM:613095
Mercury Poisoning
Hypertension, Tachycardia, Acute kidney injury, Hypotension ORPHA:330021
Familial Hyperaldosteronism Type I
Hypertension, Intracranial hemorrhage, Epistaxis ORPHA:403
Papillorenal Syndrome
Nephrolithiasis, Chronic kidney disease, Absence of renal corticomedullary differentiation, Multi... OMIM:120330
Polycythemia Vera
Angina pectoris, Intermittent claudication, Budd-Chiari syndrome, Pulmonary embolism, Portal hype... ORPHA:729
Pseudo-Torch Syndrome 3
Acute kidney injury, Hypertension, Proteinuria, Cerebral hemorrhage OMIM:618886
Cocaine Intoxication
Supraventricular arrhythmia, Prolonged QRS complex, Cerebral hemorrhage, Diffuse alveolar hemorrh... ORPHA:90068
Paternal Uniparental Disomy Of Chromosome 1
Macroscopic hematuria, Membranoproliferative glomerulonephritis, Enlarged kidney, Proteinuria, Hy... ORPHA:251004
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Hypertension, Telangiectasia, Pulmonar... OMIM:178600
Porphyria
Abnormal urinary color, Hypertension ORPHA:738
Ethylene Glycol Poisoning
Renal tubular dysfunction, Tachycardia, Hematuria, Hypotension, Atrial fibrillation, Shock, Renal... ORPHA:31826
Porphyria, Acute Intermittent
Dysuria, Tachycardia, Elevated urinary delta-aminolevulinic acid, Urinary retention, Hypertension... OMIM:176000
Arterial Tortuosity Syndrome
Telangiectases of the cheeks, Aortic valve stenosis, Aortic regurgitation, Umbilical hernia, Hype... OMIM:208050
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypospadias, Arrhythmia, 3-Methylglutaconic aciduria, Umbilical hernia, Hypertension, Hypertrophi... OMIM:614052
Central Hypoventilation Syndrome, Congenital, 3
Episodic hypertension OMIM:619483
Pigmented Nodular Adrenocortical Disease, Primary, 1
Hypertension, Increased urinary cortisol level, Secondary amenorrhea OMIM:610489
Werner Syndrome
Telangiectasia of the skin, Myocardial infarction, Secondary amenorrhea, Hypogonadism, Hypertensi... ORPHA:902
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hypertension, Increased urinary cortisol level OMIM:615954
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Macroscopic hematuria, Pulmonary embolism, Focal segmental glomeruloscler... ORPHA:567546
Apparent Mineralocorticoid Excess
Hypertension, Abnormal urine sodium concentration, Nephrocalcinosis, Renal insufficiency ORPHA:320
Hereditary Pheochromocytoma-Paraganglioma
Hypertension associated with pheochromocytoma, Congestive heart failure, Positive regitine blocki... ORPHA:29072
Juvenile Paget Disease
Hypertension ORPHA:2801
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Left anterior fascicular block, Abnormal left ventricular function, Arrhythmia, Heart murmur, Hyp... ORPHA:437572
Hyperaldosteronism, Familial, Type Iii
Hypertension, Polyuria, Hypercalciuria OMIM:613677
Hemorrhagic Fever-Renal Syndrome
Melena, Decreased glomerular filtration rate, Hematuria, Proteinuria, Decreased urine output, Pal... ORPHA:340
Multiple Endocrine Neoplasia, Type Iia
Elevated urinary vanillylmandelic acid, Elevated urinary dopamine, Palpitations, Hypertension, El... OMIM:171400
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Micropenis, Hypospadias, Primary amenorrhea, Irregular menstruation, Increased urinary 11-deoxyco... ORPHA:90793
Primary Unilateral Adrenal Hyperplasia
Hypertension, Palpitations, Epistaxis, Increased urinary potassium ORPHA:231580
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Pulmonary arterial hypertension OMIM:613320
Paroxysmal Hemicrania
Hypertension ORPHA:157835
Neuroblastoma, Susceptibility To, 1
Abnormality of urine catecholamine level, Elevated urinary vanillylmandelic acid, Elevated urinar... OMIM:256700
Buschke-Ollendorff Syndrome
Hypertension, Renal insufficiency ORPHA:1306
Adrenocortical Carcinoma
Palpitations, Abnormality of reproductive system physiology, Abnormality of urine homeostasis, In... ORPHA:1501
Hyperaldosteronism, Familial, Type I
Hypertension OMIM:103900
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Nephrolithiasis, Hypertension, Pulmonary arterial hypertension OMIM:615474
Monosomy 18P
Hypertension ORPHA:1598
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Abnormal renal physiology, Orthostatic hypotension, Tachycardia, Hypertension, Glomerular sclerosis OMIM:223900
Pituitary Adenoma 4, Acth-Secreting
Nephrolithiasis, Hypertension, Oligomenorrhea OMIM:219090
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Tubulointerstitial nephritis, Renal hypoplasia, Renal insufficien... OMIM:617595
Pseudoxanthoma Elasticum
Angina pectoris, Telangiectasia of the skin, Restrictive cardiomyopathy, Sudden cardiac death, Re... ORPHA:758
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Nephrolithiasis, Irregular menstruation, Abnormal libido, Hypertension, Increased urinary cortiso... ORPHA:189427
Alagille Syndrome
Telangiectasia of the skin, Nephrotic syndrome, Abnormality of the ureter, Spina bifida occulta, ... ORPHA:52
Atrioventricular Septal Defect 3
Midsystolic murmur, First degree atrioventricular block, Hypertension, Pulmonary arterial hyperte... OMIM:600309
Pediatric-Onset Graves Disease
Sinus tachycardia, Palpitations, Hypertension, Atrial fibrillation, Congestive heart failure ORPHA:525731
Galloway-Mowat Syndrome 3
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Hypertension, Stage 5 chronic kidne... OMIM:617729
Pseudohypoaldosteronism, Type Iib
Hypertension OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hypertension OMIM:614495
Cirrhosis, Familial
Hypertension, Pulmonary arterial hypertension, Increased level of L-fucose in urine OMIM:215600
Extracranial Carotid Artery Aneurysm
Subarachnoid hemorrhage, Vasculitis, Cerebral ischemia, Hypertension, Arteritis ORPHA:494424
Serotonin Syndrome
Hypertension, Tachycardia, Acute kidney injury, Hypotension ORPHA:43116
Liddle Syndrome 2
Hypertension OMIM:618114
Paragangliomas 3
Hypertension associated with pheochromocytoma, Tachycardia, Palpitations OMIM:605373
Gaucher Disease, Type I
Aortic valve stenosis, Mitral regurgitation, Hypertension, Pulmonary arterial hypertension, Epist... OMIM:230800
Pituitary Apoplexy
Impotence, Hypergonadotropic hypogonadism, Oligomenorrhea, Hypotension, Hypertension ORPHA:95613
Porphyria Variegata
Chronic kidney disease, Increased urinary porphobilinogen, Elevated urinary delta-aminolevulinic ... ORPHA:79473
Infant Botulism
Hypertension, Cardiac arrest, Hypotension ORPHA:178478
Morgagni-Stewart-Morel Syndrome
Hypertension ORPHA:77296
Sickle Cell Anemia
Renal insufficiency, Hypertension, Priapism, Hematuria OMIM:603903
Methylcobalamin Deficiency Type Cble
Hypertension, Hemolytic-uremic syndrome ORPHA:2169
Glycogen Storage Disease Ia
Nephrolithiasis, Decreased glomerular filtration rate, Enlarged kidney, Focal segmental glomerulo... OMIM:232200
Primary Pigmented Nodular Adrenocortical Disease
Nephrolithiasis, Irregular menstruation, Abnormal libido, Hypertension, Increased urinary cortiso... ORPHA:189439
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Intracranial hemorrhage, Irregular menstruation, Increased urinary 11-deoxycorticosterone level, ... ORPHA:90795
Alport Syndrome
Nephrotic syndrome, Nephritis, Hematuria, Tubulointerstitial fibrosis, Focal segmental glomerulos... ORPHA:63
Nephronophthisis-Like Nephropathy 1
Hypertension, Renal corticomedullary cysts, Nephronophthisis, Stage 5 chronic kidney disease OMIM:613159
Xfe Progeroid Syndrome
Renal insufficiency, Hypertension, Proteinuria, Premature ovarian insufficiency OMIM:610965
Arteriosclerosis, Severe Juvenile
Myocardial infarction, Chronic kidney disease, Hypertension OMIM:208060
Scorpion Envenomation
Bundle branch block, Ketonuria, Priapism, Premature ventricular contraction, ST segment depressio... ORPHA:466677
Pseudohypoaldosteronism, Type Iic
Hypertension OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hypertension OMIM:614496
Fragile X-Associated Tremor/Ataxia Syndrome
Urinary bladder sphincter dysfunction, Impotence, Hypotension, Hypertension, Pollakisuria ORPHA:93256
Renal Agenesis
Unilateral renal agenesis, Ureteral agenesis, Proteinuria, Renal insufficiency, Hypertension ORPHA:411709
Alport Syndrome 1, X-Linked
Nephrotic syndrome, Nephritis, Proteinuria, Renal insufficiency, Hypertension, Microscopic hematu... OMIM:301050
Abdominal Obesity-Metabolic Syndrome 4
Myocardial infarction, Hypertension OMIM:618620
Paragangliomas 1
Hypertension associated with pheochromocytoma, Palpitations, Tachycardia OMIM:168000
Isolated Ectopia Lentis
Hypertension ORPHA:1885
Generalized Glucocorticoid Resistance Syndrome
Infertility, Oligomenorrhea, Oligospermia, Hypertension, Increased urinary cortisol level ORPHA:786
Glycogen Storage Disease Ib
Nephrolithiasis, Decreased glomerular filtration rate, Enlarged kidney, Focal segmental glomerulo... OMIM:232220
Acute Intermittent Porphyria
Dark urine, Dysuria, Increased urinary porphobilinogen, Elevated urinary delta-aminolevulinic aci... ORPHA:79276
Glycogen Storage Disease Ic
Decreased glomerular filtration rate, Hematuria, Spider hemangioma, Focal segmental glomeruloscle... OMIM:232240
Neuroleptic Malignant Syndrome
Myoglobinuria, Tachycardia, Pulmonary embolism, Arrhythmia, Hypotension, Acute kidney injury, Pro... ORPHA:94093
Apparent Mineralocorticoid Excess
Hypertension OMIM:218030
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hypertension, Umbilical hernia ORPHA:1555
Aortic Arch Interruption
Intermittent claudication, Blood pressure substantially higher in arms than legs, Tricuspid regur... ORPHA:2299
Senior-Boichis Syndrome
Chronic kidney disease, Reduced renal corticomedullary differentiation, Renal hypoplasia, Portal ... ORPHA:84081
Spondyloenchondrodysplasia
Chronic kidney disease, Raynaud phenomenon, Hematuria, Vasculitis, Proteinuria, Hypertension ORPHA:1855
Granulomatosis With Polyangiitis
Angina pectoris, Prostatitis, Recurrent intrapulmonary hemorrhage, Arrhythmia, Ureteral stenosis,... ORPHA:900
Fabry Disease
Angina pectoris, Telangiectasia of the skin, Bundle branch block, Nephrotic syndrome, Mucosal tel... ORPHA:324
Abdominal Obesity-Metabolic Syndrome 3
Myocardial infarction, Hypertension OMIM:615812
Pigmented Nodular Adrenocortical Disease, Primary, 4
Hypertension OMIM:615830
Primary Progressive Freezing Gait
Hypertension, Urinary incontinence ORPHA:75567
Ectopic Aldosterone-Producing Tumor
Hypertension, Epistaxis ORPHA:231632
Cutis Marmorata Telangiectatica Congenita
Hypertension, Telangiectasia OMIM:219250
Popov-Chang syndrome
Pulmonic stenosis, Hypertension OMIM:618428
Beta-Ketothiolase Deficiency
Hypertension, Ketonuria, Hypotension ORPHA:134
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Anuria, Hypertension, Acute kidney injury, Hemolytic-uremic syndrome OMIM:235400
Acquired Generalized Lipodystrophy
Abnormal cardiovascular system physiology, Cardiomyopathy, Proteinuria, Hypertension ORPHA:79086
Alkaptonuria
Nephrolithiasis, Prostatitis, Aminoaciduria, Myocardial infarction, Hypertension ORPHA:56
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrolithiasis, Pulmonary venous hypertension, Epistaxis, Irregular menstruation, Menorrhagia, T... ORPHA:79259
Cockayne Syndrome Type 1
Renal insufficiency, Hypertension, Proteinuria, Male hypogonadism ORPHA:90321
Familial Pseudohyperkalemia
Hypertension ORPHA:90044
Crimean-Congo Hemorrhagic Fever
Melena, Hemoperitoneum, Subdural hemorrhage, Hemothorax, Hematuria, Myocarditis, Proteinuria, Bun... ORPHA:99827
Stiff-Person Syndrome
Hypertension, Tachycardia OMIM:184850
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome
Hypertension, Proteinuria OMIM:612469
Postinfectious Vasculitis
Orchitis, Vasculitis in the skin, Raynaud phenomenon, Cerebral vasculitis, Membranoproliferative ... ORPHA:48435
Acth-Independent Macronodular Adrenal Hyperplasia
Hypertension OMIM:219080
Hunter-Macdonald Syndrome
Mitral regurgitation, Hypospadias, Aortic regurgitation, Umbilical hernia, Hypertension OMIM:611962
Pigmented Nodular Adrenocortical Disease, Primary, 2
Hypertension OMIM:610475
Gaisböck Syndrome
Angina pectoris, Hypovolemia, Hypernatriuria, Myocardial infarction, Hypertension, Nephrocalcinos... ORPHA:90041
Familial Dysautonomia
Orthostatic hypotension, Tachycardia, Renal insufficiency, Hypertension ORPHA:1764
Overlap Myositis
Hypertension, Pulmonary arterial hypertension, Raynaud phenomenon ORPHA:206572
Acute Interstitial Pneumonia
Hypertension ORPHA:79126
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Myocarditis, Myocardial infarction, Dilated cardiomyopathy, Hypertens... ORPHA:3342
Prader-Willi Syndrome
Infertility, Primary amenorrhea, Hypertension, Hypogonadism ORPHA:739
Acute Transverse Myelitis
Urinary bladder sphincter dysfunction, Priapism, Orthostatic hypotension, Subarachnoid hemorrhage... ORPHA:139417
Von Hippel-Lindau Disease
Abnormal left ventricular function, Elevated urinary catecholamines, Palpitations, Arrhythmia, Mu... ORPHA:892
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Hypertension, Atrioventricular block ORPHA:371428
Poliomyelitis
Hypertension, Hypotension, Hypovolemic shock ORPHA:2912
Myhre Syndrome
Abnormal penis morphology, Hypospadias, Hypogonadism, Hypertension, Epispadias ORPHA:2588
Hurler Syndrome
Angina pectoris, Hypertension, Cardiomyopathy, Mucopolysacchariduria ORPHA:93473
Carey-Fineman-Ziter Syndrome
Glandular hypospadias, Hydronephrosis, Hypertensive crisis ORPHA:1358
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hypertension ORPHA:449291
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Abnormal left ventricular function, Hypovolemia, Subarachnoid hemorrhage, Aortic regurgitation, H... ORPHA:91387
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Nephronophthisis, Reduced renal corticomedullary differentiation, Ureteral duplication, Renal cys... OMIM:266920
Acromegaly
Dysuria, Impotence, Dysmenorrhea, Hypogonadotropic hypogonadism, Mitral regurgitation, Long penis... ORPHA:963
Somatomammotropinoma
Dysuria, Amenorrhea, Impotence, Dysmenorrhea, Hypogonadotropic hypogonadism, Mitral regurgitation... ORPHA:314769
Livedoid Vasculopathy
Telangiectasia of the skin, Ischemic stroke, Hypertension ORPHA:542643
Bardet-Biedl Syndrome 1
Hypertension, Hypogonadism, Micropenis OMIM:209900
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hypertension OMIM:616914
Cushing Disease
Amenorrhea, Oligomenorrhea, Myocardial infarction, Secondary amenorrhea, Abnormal libido, Hyperte... ORPHA:96253
Hallermann-Streiff Syndrome
Pulmonary arterial hypertension, Telangiectasia, Spina bifida, Hypertension OMIM:234100
Seckel Syndrome 10
Hypertension, Glycosuria, Congestive heart failure OMIM:617253
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Hypertension, Tachycardia, Retinal hemorrhage, Bradycardia OMIM:614653
Scalp-Ear-Nipple Syndrome
Pyelonephritis, Renal hypoplasia, Renal insufficiency, Hypertension OMIM:181270
Telangiectasia, Hereditary Hemorrhagic, Type 2
Melena, Subarachnoid hemorrhage, Hematochezia, Lip telangiectasia, Facial telangiectasia, Fingerp... OMIM:600376
Cockayne Syndrome A
Micropenis, Irregular menstruation, Arrhythmia, Renal insufficiency, Proteinuria, Hypogonadism, H... OMIM:216400
Pseudohypoparathyroidism Type 1A
Hypergonadotropic hypogonadism, Oligomenorrhea, Hypertension, Prolonged QT interval, Low urinary ... ORPHA:79443
Beare-Stevenson Cutis Gyrata Syndrome
Hypertension OMIM:123790
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Impotence, Budd-Chiari syndrome, Hemoglobinuria, Glycosuria, Pulmonary em... ORPHA:447
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Arrhythmia, Hypertension ORPHA:139411
Autosomal Dominant Dopa-Responsive Dystonia
Hypertension ORPHA:98808
Hardikar Syndrome
Hematemesis, Hydroureter, Bladder exstrophy, Renal insufficiency, Umbilical hernia, Hydronephrosi... OMIM:301068
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Micropenis, Unilateral renal agenesis, Hypospadias, Oligospermia, Primary amenorrhea, Hypertensio... ORPHA:95699
Paragangliomas 4
Hypertension associated with pheochromocytoma, Palpitations, Tachycardia, Elevated urinary catech... OMIM:115310
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Mitral regurgitation, Intracranial hemorrhage, Hypertension, Congestive he... ORPHA:363618
Nestor-Guillermo Progeria Syndrome
Mitral regurgitation, Right bundle branch block, Hypertension, Sinus tachycardia, Pulmonary arter... OMIM:614008
Orofaciodigital Syndrome I
Myelomeningocele, Hypertension, Polycystic kidney dysplasia, Proteinuria OMIM:311200
Apert Syndrome
Hypertension ORPHA:87
Neurofibromatosis, Type I
Hypertension, Spina bifida, Renal artery stenosis OMIM:162200
Von Hippel-Lindau Syndrome
Hypertension, Multiple renal cysts OMIM:193300
Low Phospholipid-Associated Cholelithiasis
Hypertension ORPHA:69663
Scalp-Ear-Nipple Syndrome
Pyelonephritis, Ureteral duplication, Duplication of renal pelvis, Hypertension ORPHA:2036
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hemoglobinuria, Myocardial infarction, Acute kidney injury, Hypertension, Anuria ORPHA:90038
Alexander Disease
Hypertension, Sudden cardiac death, Hypotension ORPHA:58
Classic Homocystinuria
Intracranial hemorrhage, Pulmonary embolism, Cerebral ischemia, Gastrointestinal hemorrhage, Hype... ORPHA:394
Pierson Syndrome
Nephrotic syndrome, Diffuse mesangial sclerosis, Retinal hemorrhage, Proteinuria, Hypertension, S... OMIM:609049
Homozygous Familial Hypercholesterolemia
Angina pectoris, Abnormal left ventricular function, Mitral regurgitation, Sudden cardiac death, ... ORPHA:391665
Aorta Coarctation
Hypertension, Pulmonary arterial hypertension, Congestive heart failure ORPHA:1457
Marshall-Smith Syndrome
Hypertension, Pulmonary arterial hypertension, Premature ventricular contraction, Umbilical hernia OMIM:602535
Xq21 Microdeletion Syndrome
Hypertension, Renal artery stenosis ORPHA:1435
Mucopolysaccharidosis Type 2, Severe Form
Dermatan sulfate excretion in urine, Arrhythmia, Heparan sulfate excretion in urine, Heart murmur... ORPHA:217085
Infection-Related Hemolytic Uremic Syndrome
Nephrotic range proteinuria, Myocarditis, Oliguria, Acute kidney injury, Hypertensive crisis, Dec... ORPHA:544482
Mucopolysaccharidosis Type 2, Attenuated Form
Dermatan sulfate excretion in urine, Arrhythmia, Heparan sulfate excretion in urine, Heart murmur... ORPHA:217093
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Raynaud phenomenon, Vasculitis, Dilated cardiomyopathy, Portal hypertension, Hypertension OMIM:615688
Williams Syndrome
Sudden cardiac death, Myocardial infarction, Proteinuria, Umbilical hernia, Nephrolithiasis, Blad... ORPHA:904
Autosomal Recessive Polycystic Kidney Disease
Reduced renal corticomedullary differentiation, Enlarged kidney, Oliguria, Polycystic kidney dysp... ORPHA:731
Multisystemic Smooth Muscle Dysfunction Syndrome
Hypertension, Pulmonary arterial hypertension OMIM:613834
Aicardi-Goutieres Syndrome 7
Nephrotic syndrome, Hematemesis, Vasculitis, Hematochezia, Hypertension, Hypertrophic cardiomyopathy OMIM:615846
Multiple Endocrine Neoplasia Type 2
Nephrolithiasis, Hypertension associated with pheochromocytoma, Elevated urinary vanillylmandelic... ORPHA:653
Hutchinson-Gilford Progeria Syndrome
Angina pectoris, Mitral stenosis, Transient ischemic attack, Aortic valve stenosis, Raynaud pheno... ORPHA:740
Atypical Werner Syndrome
Telangiectasia of the skin, Congestive heart failure, Aortic valve stenosis, Glycosuria, Secondar... ORPHA:79474
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypertension, Long penis OMIM:202010
Multiple Endocrine Neoplasia Type 1
Nephrolithiasis, Amenorrhea, Melena, Impotence, Decreased male libido, Hematemesis, Hypercalciuri... ORPHA:652
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Hypertension, Granulomatous coronary arteritis OMIM:108050
Cockayne Syndrome B
Micropenis, Arrhythmia, Renal insufficiency, Proteinuria, Hypertension OMIM:133540
Nelson Syndrome
Hypertension, Increased urinary cortisol level, Intracranial hemorrhage ORPHA:199244
Smith-Lemli-Opitz Syndrome
Micropenis, Unilateral renal agenesis, Hypospadias, Renal cyst, Ureteropelvic junction obstructio... OMIM:270400
Tuberous Sclerosis Complex
Chronic kidney disease, Renal angiomyolipoma, Renal cyst, Polycystic kidney dysplasia, Renal insu... ORPHA:805
Turner Syndrome Due To Structural X Chromosome Anomalies
Female infertility, Primary amenorrhea, High urinary gonadotropin level, Myocardial infarction, S... ORPHA:99413
Turner Syndrome
Female infertility, Primary amenorrhea, High urinary gonadotropin level, Myocardial infarction, S... ORPHA:881
Mosaic Monosomy X
Female infertility, Primary amenorrhea, High urinary gonadotropin level, Myocardial infarction, S... ORPHA:99228
Monosomy X
Female infertility, Primary amenorrhea, High urinary gonadotropin level, Myocardial infarction, S... ORPHA:99226
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Hydronephrosis, Hypertension ORPHA:2750
Familial Bicuspid Aortic Valve
Hypertension, Aortic regurgitation, Aortic valve stenosis, Heart murmur ORPHA:402075
Cockayne Syndrome
Nephrotic syndrome, Abnormal renal physiology, Unilateral renal agenesis, Retinal hemorrhage, Ren... ORPHA:191
Williams-Beuren Syndrome
Bladder diverticulum, Supravalvular aortic stenosis, Micropenis, Pulmonic stenosis, Mitral regurg... OMIM:194050
Mucopolysaccharidosis Type 2
Hypertension, Arrhythmia, Cardiomyopathy, Umbilical hernia ORPHA:580
Yunis-Varon Syndrome
Micropenis, Hypospadias, Arrhinencephaly, Renovascular hypertension, Hypertension, Pulmonary arte... ORPHA:3472
22Q11.2 Deletion Syndrome
Corneal neovascularization, Hypospadias, Arrhinencephaly, Multiple renal cysts, Hypertensive cris... ORPHA:567
Adams-Oliver Syndrome 1
Aortic valve stenosis, Pulmonic stenosis, Hypertension, Encephalocele, Pulmonary arterial hyperte... OMIM:100300
Cranioectodermal Dysplasia 2
Hypertension, Renal cyst, Renal insufficiency OMIM:613610
Familial Osteodysplasia, Anderson Type
Hypertension ORPHA:2769
Blau Syndrome
Hypertension, Pericarditis OMIM:186580
Lipodystrophy, Familial Partial, Type 2
Hypertension OMIM:151660
Immunodeficiency 87 And Autoimmunity
Third degree atrioventricular block, Hypertension, Dilated cardiomyopathy, Pulmonary arterial hyp... OMIM:619573
Myhre Syndrome
Hypertension, Aortic valve stenosis OMIM:139210
Cushing Syndrome Due To Ectopic Acth Secretion
Amenorrhea, Oligomenorrhea, Myocardial infarction, Secondary amenorrhea, Abnormal libido, Hyperte... ORPHA:99889
Congenital Disorder Of Glycosylation, Type Iim
Hypertension, Ureteropelvic junction obstruction, Vesicovaginal fistula OMIM:300896
17Q11 Microdeletion Syndrome
Telangiectasia of the skin, Hypertrophic cardiomyopathy, Pulmonic stenosis, Renovascular hyperten... ORPHA:97685
Blau Syndrome
Nephropathy, Large vessel vasculitis, Hypertension, Pericarditis, Pulmonary arterial hypertension... ORPHA:90340
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Polyuria, Pulmonary arterial hypertension, Hypertension OMIM:606721
Generalized Arterial Calcification Of Infancy
Medullary nephrocalcinosis, Transient ischemic attack, Weak pulse, Retinal hemorrhage, Left ventr... ORPHA:51608
Vascular Ehlers-Danlos Syndrome
Bladder diverticulum, Telangiectasia of the skin, Cystocele, Hypospadias, Renovascular hypertensi... ORPHA:286
Carney Complex
Decreased fertility in males, Oligospermia, Hypertension, Abnormal sperm motility, Congestive hea... ORPHA:1359
Neurofibromatosis Type 1
Hypertension ORPHA:636
Keutel Syndrome
Pulmonic stenosis, Hypertension OMIM:245150
Alström Syndrome
Decreased fertility in males, Hypergonadotropic hypogonadism, Urinary retention, Stage 5 chronic ... ORPHA:64
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.

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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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