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Gene: Sgk1 MGI:1340062

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
serum/glucocorticoid regulated kinase 1
Synonyms:
Sgk

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Sgk1 mutations

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

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

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Sgk1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypertension, Essential
Elevated mean arterial pressure, Elevated systolic blood pressure, Elevated diastolic blood pressure OMIM:145500
Hyperaldosteronism, Familial, Type Ii
Hyperaldosteronism, Hypokalemia OMIM:605635
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Hyperaldosteronism, Renal salt wasting, Adrenal insufficiency, Adrenocorticotropic hormone excess OMIM:613743
Hyperaldosteronism, Familial, Type Iv
Hyperaldosteronism, Elevated aldosterone:renin ratio OMIM:617027
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Renal salt wasting, Increased circulating renin level OMIM:619406
Hyperaldosteronism, Familial, Type I
Abnormality of the urinary system, Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... OMIM:103900
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperaldosteronism, Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:620126
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperaldosteronism, Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:620125
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyperaldosteronism, Hyponatremia, Pseudohypoaldosteronism, Renal salt wasting, Hyperactive renin-... OMIM:264350
Hyperaldosteronism, Familial, Type Iii
Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia, Hypercal... OMIM:613677
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperaldosteronism, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, ... OMIM:177735
Adrenocortical Carcinoma
Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre... ORPHA:1501
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Hyperaldosteronism, Decreased glomerular filtration rate, Renal... OMIM:613090
Bartter Syndrome, Type 3
Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Hyperaldosteronism, Increased urinary potassiu... OMIM:607364
East Syndrome
Renal magnesium wasting, Abnormal urinary electrolyte concentration, Hypomagnesemia, Hyperaldoste... ORPHA:199343
Familial Hyperaldosteronism Type Ii
Secretory adrenocortical adenoma, Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, G... ORPHA:404
Familial Hyperaldosteronism Type I
Secretory adrenocortical adenoma, Dexamethasone-suppressible primary hyperaldosteronism, Adrenal ... ORPHA:403
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Nephropathy, Nephritis, Decreased glomerular filtration rate, Renal insufficiency, Renal tubular ... OMIM:162000
Pheochromocytoma/Paraganglioma Syndrome 6
Hypertension OMIM:618464
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension OMIM:166990
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Increased circulating cortisol level, Increased urinary potassium, Decreased circulating renin le... ORPHA:231625
Diarrhea 1, Secretory Chloride, Congenital
Hyperaldosteronism, Hypokalemia, Hyponatremia, Hyperactive renin-angiotensin system, Hypochloremi... OMIM:214700
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Hyperaldosteronism, Decreased glomerular filtration rate, Reduc... OMIM:602522
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart... ORPHA:3193
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, Hypercalciuria, Glucocortocoid-inse... ORPHA:251274
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased urina... ORPHA:189427
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypocalciuria, Enuresis, Hypomagnesemia, Hyperaldosteronism, Renal sodium wasting, Hypokalemia, P... OMIM:612780
Primary Unilateral Adrenal Hyperplasia
Increased urinary potassium, Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia,... ORPHA:231580
Coronary Artery Disease, Autosomal Dominant, 1
Hypertension, Myocardial infarction OMIM:608320
Polycystic Kidney Disease 7
Hypertension OMIM:620056
Ectopic Aldosterone-Producing Tumor
Hypokalemia, Renal cortical adenoma, Decreased circulating renin level, Glucocortocoid-insensitiv... ORPHA:231632
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment
Nephropathy, Decreased glomerular filtration rate OMIM:242530
Cardiomyopathy, Familial Hypertrophic, 30, Atrial
Atrial fibrillation, Reduced left ventricular ejection fraction, Atrial flutter, Hypertension OMIM:620734
Preeclampsia/Eclampsia 1
Hypertension OMIM:189800
Bartter Syndrome, Type 1, Antenatal
Hyperparathyroidism, Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Nephro... OMIM:601678
Bartter Syndrome Type 4
Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Hypomagnesemia, Hyperaldosteronism... ORPHA:89938
Generalized Pseudohypoaldosteronism Type 1
Abnormal circulating aldosterone, Glucocortocoid-insensitive primary hyperaldosteronism, Hyponatr... ORPHA:171876
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension OMIM:615378
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal tubular resorption, Nephrocalcinosis, Hypomagnesemia, Hyperaldosteronism, Hypocalc... ORPHA:73224
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hyperaldosteronism, Adrenal hyperplasia, Nephrolithiasis, Hypokalemia, Abnormal circulating renin ORPHA:369929
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2
Lacunar stroke, Transient ischemic attack, Hypertension OMIM:616779
Melorheostosis With Osteopoikilosis
Hypertension ORPHA:1879
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Lcat Deficiency
Acute kidney injury, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal ... ORPHA:650
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Decreased glomerular filtration rate, Stage 5 chronic kidney disease... OMIM:618061
Spastic Paraplegia-Nephritis-Deafness Syndrome
Hypertension ORPHA:2820
Late-Onset Familial Hypoaldosteronism
Renal sodium wasting, Hyponatremia, Decreased circulating aldosterone level, Elevated serum 11-de... ORPHA:556037
Nail-Patella-Like Renal Disease
Hypertension ORPHA:2613
Hereditary Renal Hypouricemia
Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, Uric acid urol... ORPHA:94088
Trimethylaminuria
Tachycardia, Hypertension OMIM:602079
Hypertension And Brachydactyly Syndrome
Hypertension OMIM:112410
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypokalemia, Nephrolithiasis, Primary hyperaldosteronism, Decreased circulating renin level OMIM:615474
Coronary Artery Disease, Autosomal Dominant 2
Sudden cardiac death, Hypertension, Myocardial infarction OMIM:610947
Bartter Syndrome, Type 2, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Nephrocalcinosis, Increased... OMIM:241200
Focal Segmental Glomerulosclerosis 5
Hypertension OMIM:613237
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Renal salt wasting, Elevated circulating 21-deoxycortisol concentration, Adr... OMIM:201910
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Elevated circulating pa... OMIM:613388
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hypertension OMIM:607832
Iga Nephropathy, Susceptibility To, 3
Hypertension OMIM:616818
Early-Onset Familial Hypoaldosteronism
Renal sodium wasting, Hyponatremia, Decreased circulating aldosterone level, Elevated serum 11-de... ORPHA:556030
Cystic Hamartoma Of Lung And Kidney
Hypertension ORPHA:2111
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythmia, Hypertension ORPHA:1345
Multiple Endocrine Neoplasia, Type Iia
Thyroid C cell hyperplasia, Hyperparathyroidism, Elevated urinary dopamine level, Increased circu... OMIM:171400
Orthostatic Hypotension 2
Decreased glomerular filtration rate OMIM:618182
Focal Segmental Glomerulosclerosis 2
Hypertension OMIM:603965
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... OMIM:310468
Iga Nephropathy, Susceptibility To, 2
Hypertension OMIM:613944
Periodic Fever, Menstrual Cycle-Dependent
Increased circulating cortisol level OMIM:614674
Renal Failure, Progressive, With Hypertension
Hypertension OMIM:161900
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Increased urinary cortisol level, Decreased circulating ACT... OMIM:615954
Gitelman Syndrome
Type II diabetes mellitus, Parathyroid adenoma, Urinary incontinence, Tubulointerstitial nephriti... ORPHA:358
Andersen-Tawil Syndrome
Hyperaldosteronism, Renal hypoplasia, Renal tubular dysfunction ORPHA:37553
Primary Hyperoxaluria Type 1
Nephrocalcinosis, Enuresis, Failure to thrive, Recurrent urinary tract infections, Decreased glom... ORPHA:93598
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Focal pancreatic isle... ORPHA:79644
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Hypertension OMIM:605115
Glomerulopathy With Fibronectin Deposits 2
Hypertension OMIM:601894
Moyamoya Disease With Early-Onset Achalasia
Hypertension, Raynaud phenomenon ORPHA:401945
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Pituitary adenoma, Increased circulating cortisol level, Pituitary prola... ORPHA:97289
Hypocalcemia, Autosomal Dominant 1
Nephrocalcinosis, Decreased glomerular filtration rate, Nephrolithiasis, Hypercalciuria, Decrease... OMIM:601198
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Liddle Syndrome
Arrhythmia, Cerebral ischemia, Hypertension ORPHA:526
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, D... OMIM:174000
Morbid Obesity And Spermatogenic Failure
Hypertension, Myocardial infarction, Congestive heart failure OMIM:615703
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Abnormal circulating aldosterone, Increased circulating ACTH level, Congenita... OMIM:614736
Glomerulopathy With Fibronectin Deposits 1
Hypertension OMIM:137950
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Hypertension, Telangiectases producing 'marbled' skin OMIM:206570
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Failure... ORPHA:97362
Oculocerebrorenal Syndrome Of Lowe
Hematuria, Hypophosphatemia, Proximal renal tubular acidosis, Aminoaciduria, Renal insufficiency,... ORPHA:534
Familial Cervical Artery Dissection
Transient ischemic attack, Cerebral ischemia, Subarachnoid hemorrhage, Recurrent cerebral hemorrh... ORPHA:36382
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas... ORPHA:2260
Lessel-Kubisch Syndrome
Hypertension OMIM:618681
Polycystic Kidney Disease 5
Hypertension OMIM:617610
Grange Syndrome
Aortic regurgitation, Hypertension ORPHA:79094
Iga Nephropathy, Susceptibility To, 1
Hypertension OMIM:161950
Pigmented Nodular Adrenocortical Disease, Primary, 1
Decreased circulating dehydroepiandrosterone concentration, Increased circulating cortisol level,... OMIM:610489
Arterial Calcification, Generalized, Of Infancy, 2
Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ... OMIM:614473
Pseudohypoaldosteronism, Type Iia
Hypertension OMIM:145260
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Arrhythmia, Wolff-Parkinson-White syndrome, Abnormal left ventricular f... OMIM:540000
Leprechaunism
Nephrocalcinosis, Long penis, Central hypothyroidism, Failure to thrive, Hyperaldosteronism, Hype... ORPHA:508
Moyamoya Disease 6 With Or Without Achalasia
Ischemic stroke, Hypertension, Raynaud phenomenon OMIM:615750
Phosphoribosylpyrophosphate Synthetase Superactivity
Arrhythmia, Hypertension, Cardiomyopathy ORPHA:3222
Coproporphyria, Hereditary
Tachycardia, Hypertension OMIM:121300
Tako-Tsubo Cardiomyopathy
Atrial fibrillation, Hypotension, Cardiogenic shock, Prolonged QTc interval, Palpitations, Mitral... ORPHA:66529
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertension ORPHA:71529
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage ORPHA:84090
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Abnormal urinary electrolyte concentration, Hypogonadism, Decreased glomerular filtr... ORPHA:85450
Primary Membranoproliferative Glomerulonephritis
Hypertension, Myocardial infarction ORPHA:54370
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Hyp... ORPHA:90363
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hypertension OMIM:600666
Glucocorticoid Resistance, Generalized
Increased circulating ACTH level, Increased serum testosterone level, Increased circulating corti... OMIM:615962
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, Decreased ci... OMIM:610475
Sneddon Syndrome
Intracranial hemorrhage, Hypertension ORPHA:820
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti... ORPHA:563
Pauci-Immune Glomerulonephritis
Acute kidney injury, Decreased glomerular filtration rate, Renal insufficiency, Proteinuria, Glom... ORPHA:93126
Familial Partial Lipodystrophy, Köbberling Type
Hypertension ORPHA:79084
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circulating co... ORPHA:3453
Senior-Loken Syndrome
Hypertension ORPHA:3156
Erythrocytosis, Familial, 1
Hypertension, Myocardial infarction, Cerebral hemorrhage OMIM:133100
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Primary hypercortisolism, Adrenal hyperplasia, Increased bo... OMIM:615830
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Chronic kidney disease, Failure to thrive in infancy, Decreased glomerular filtration rate, Prote... ORPHA:488627
Potocki-Shaffer Syndrome
Hypertension ORPHA:52022
Denys-Drash Syndrome
Hypertension ORPHA:220
Takayasu Arteritis
Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Cerebral ischemia, Pulmonary arteri... ORPHA:3287
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Decreased circulating ACTH concentration, Macronodular adre... OMIM:219080
Amyloidosis, Hereditary Systemic 2
Hypertension OMIM:105200
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... OMIM:171420
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hypertension, Congestive heart failure ORPHA:1349
Pseudohypoaldosteronism Type 2
Hypertension ORPHA:757
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Liddle Syndrome 2
Hypertension OMIM:618114
Liddle Syndrome 3
Hypertension OMIM:618126
Pseudohypoaldosteronism, Type Iib
Hypertension OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hypertension OMIM:614495
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Failure to thrive, Low-molecular-weight pr... ORPHA:18
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension OMIM:616069
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, Increased circulating an... OMIM:202010
Multiple Endocrine Neoplasia, Type I
Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cel... OMIM:131100
Focal Segmental Glomerulosclerosis 1
Hypertension OMIM:603278
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hypertension, Mitral regurgitation OMIM:173900
Methanol Poisoning
Inflammatory arteriopathy, Permanent atrial fibrillation, Cerebral hemorrhage, Intracranial hemor... ORPHA:31825
Lipodystrophy, Familial Partial, Type 4
Hypertension OMIM:613877
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Corticosteroid-Binding Globulin Deficiency
Hypotension, Hypertension OMIM:611489
Plin1-Related Familial Partial Lipodystrophy
Hypertension ORPHA:280356
Mccune-Albright Syndrome
Precocious puberty, Hyperparathyroidism, Pituitary adenoma, Increased circulating cortisol level,... OMIM:174800
Aapoaiv Amyloidosis
Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab... ORPHA:439232
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Xanthelasma, Hyperlipid... OMIM:232200
Sneddon Syndrome
Ischemic stroke, Hypertension, Cerebral hemorrhage OMIM:182410
Idiopathic Non-Lupus Full-House Nephropathy
Hypertension ORPHA:567544
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi... OMIM:264800
Bangstad Syndrome
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
Systemic Lupus Erythematosus 17
Raynaud phenomenon, Hypertensive crisis, Mitral regurgitation OMIM:301080
Glutaric Aciduria Iii
Hypertension OMIM:231690
Nelson Syndrome
Increased circulating cortisol level, Increased circulating prolactin concentration, Pituitary ca... ORPHA:199244
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Ischemic stroke, Cerebral ischemia, Cerebral hemorrhage, Lacunar strok... ORPHA:136
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hypertension ORPHA:1192
Dietary Iron Overload Disease
Abnormal thyroid morphology, Increased circulating cortisol level, Increased circulating ferritin... ORPHA:139507
X-Linked Hypohidrotic Ectodermal Dysplasia
Hypertension ORPHA:181
Central Hypoventilation Syndrome, Congenital, 3
Episodic hypertension OMIM:619483
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, ST segment depression, H... ORPHA:90065
Familial Cerebral Saccular Aneurysm
Subarachnoid hemorrhage, Transient ischemic attack, Hypertension, Intracranial hemorrhage ORPHA:231160
Postorgasmic Illness Syndrome
Palpitations, Hypertension ORPHA:279947
Polyarteritis Nodosa
Hypertension, Raynaud phenomenon, Cardiomyopathy, Pericarditis ORPHA:767
Liddle Syndrome 1
Hypertension OMIM:177200
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Hypertension, Dilated cardiomyopathy, Ischemic stroke, Cerebral hemorrhage ORPHA:280679
Non-Functioning Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:94080
Ganglioneuroma
Gastrointestinal hemorrhage, Hypertension ORPHA:251992
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Lipodystrophy, Familial Partial, Type 1
Hypertension OMIM:608600
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Hypertension OMIM:202110
Nephronophthisis 18
Hypertension OMIM:615862
Pseudohypoaldosteronism, Type Iie
Hypertension OMIM:614496
Narcolepsy Type 1
Syncope, Hypertension ORPHA:2073
Coenzyme Q10 Deficiency, Primary, 8
Hypertension OMIM:616733
Preeclampsia
Elevated diastolic blood pressure, Elevated systolic blood pressure, Hypertension ORPHA:275555
Mccune-Albright Syndrome
Precocious puberty, Renal phosphate wasting, Increased circulating cortisol level, Increased circ... ORPHA:562
Coach Syndrome 2
Hypertension OMIM:619111
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Xanthelasma, Hyperlipid... OMIM:232220
Glycogen Storage Disease Ic
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Xanthelasma, Renal insu... OMIM:232240
Multicentric Carpotarsal Osteolysis Syndrome
Hypertension OMIM:166300
Rhabdoid Tumor
Hypertension, Internal hemorrhage ORPHA:69077
Riboflavin Transporter Deficiency
Hypertension ORPHA:97229
Zollinger-Ellison Syndrome
Hyperparathyroidism, Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pi... ORPHA:913
Pituitary Adenoma 1, Multiple Types
Hypertension, Cardiomyopathy OMIM:102200
Abdominal Obesity-Metabolic Syndrome 4
Hypertension, Myocardial infarction OMIM:618620
Lipodystrophy, Familial Partial, Type 6
Hypertension OMIM:615980
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Hypertension OMIM:613870
Pituitary Apoplexy
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... ORPHA:95613
Familial Pseudohyperkalemia
Hypertension ORPHA:90044
C3 Glomerulopathy
Hypertension ORPHA:329918
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertension ORPHA:363400
Ochoa Syndrome
Hypertension ORPHA:2704
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Acute kidney injury, Oliguria, Anuria, Decreased glomerular filtration ra... ORPHA:340
Cryoglobulinemia, Familial Mixed
Hypertension OMIM:123550
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:605373
Juvenile Paget Disease
Hypertension ORPHA:2801
Lipodystrophy, Familial Partial, Type 5
Hypertension OMIM:615238
Nephroblastoma
Hypertension ORPHA:654
Paroxysmal Hemicrania
Hypertension ORPHA:157835
Bronchial Neuroendocrine Tumor
Increased serum serotonin, Increased circulating cortisol level, Increased circulating ACTH level... ORPHA:97287
Cutis Marmorata Telangiectatica Congenita
Telangiectasia, Hypertension OMIM:219250
Stiff Skin Syndrome
Hypertension ORPHA:2833
Apparent Mineralocorticoid Excess
Hypertension OMIM:218030
Lysinuric Protein Intolerance
Renal fibrosis, Hyperlysinuria, Renal amyloidosis, Failure to thrive, Oroticaciduria, Decreased r... ORPHA:470
Alopecia Universalis
Hypertension ORPHA:701
Isolated Ectopia Lentis
Hypertension ORPHA:1885
Vipoma
Follicular thyroid carcinoma, Pituitary adenoma, Increased circulating cortisol level, Increased ... ORPHA:97282
Pseudohypoaldosteronism, Type Iic
Hypertension OMIM:614492
Fanconi Renotubular Syndrome 5
Hypertension OMIM:618913
Gaucher Disease, Type I
Aortic valve stenosis, Epistaxis, Mitral regurgitation, Pulmonary arterial hypertension, Hyperten... OMIM:230800
Mercury Poisoning
Tachycardia, Hypotension, Hypertension ORPHA:330021
Heme Oxygenase 1 Deficiency
Epistaxis, Diffuse alveolar hemorrhage, Hypertension OMIM:614034
Nephronophthisis 2
Pulmonary insufficiency, Hypertension OMIM:602088
Pheochromocytoma
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... OMIM:171300
Tetanus
Tachycardia, Hypertension, Bradycardia ORPHA:3299
Fabry Disease
Congestive heart failure, Transient ischemic attack, Angina pectoris, Arrhythmia, Hypertension, M... OMIM:301500
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Pulmonary arterial hypertension, Second degree atrioventricular block OMIM:617021
Alagille Syndrome 2
Hypertension, Pulmonic stenosis OMIM:610205
Extracranial Carotid Artery Aneurysm
Vasculitis, Arteritis, Cerebral ischemia, Subarachnoid hemorrhage, Hypertension ORPHA:494424
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... ORPHA:652
Alkaptonuria
Decreased glomerular filtration rate, Dark urine, Elevated urinary homogentisic acid, Nephrolithi... OMIM:203500
Infant Botulism
Cardiac arrest, Hypotension, Hypertension ORPHA:178478
Monosomy 18P
Hypertension ORPHA:1598
Somatostatinoma
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... ORPHA:97283
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Pulmonary arterial hypertension, Hypertension OMIM:613320
Morgagni-Stewart-Morel Syndrome
Hypertension ORPHA:77296
Stiff-Person Syndrome
Tachycardia, Hypertension OMIM:184850
Ppoma
Intestinal carcinoid, Pituitary adenoma, Increased circulating cortisol level, Increased circulat... ORPHA:97278
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Hypertension OMIM:617763
Pediatric-Onset Graves Disease
Sinus tachycardia, Congestive heart failure, Palpitations, Atrial fibrillation, Hypertension ORPHA:525731
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Dilated cardiomyopathy, Hypertension, Cerebral hemorrhage OMIM:300845
Polycythemia Vera
Epistaxis, Gastrointestinal hemorrhage, Pulmonary embolism, Budd-Chiari syndrome, Portal hyperten... ORPHA:729
Eosinophilic Granulomatosis With Polyangiitis
Vasculitis, Congestive heart failure, Hypertrophic cardiomyopathy, Transient ischemic attack, Hyp... ORPHA:183
Lipodystrophy, Familial Partial, Type 3
Hypertension OMIM:604367
Pheochromocytoma/Paraganglioma Syndrome 1
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:168000
Grfoma
Intestinal carcinoid, Pituitary adenoma, Increased circulating cortisol level, Increased circulat... ORPHA:97261
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Hypertension, Myocardial infarction, Congestive heart failure OMIM:208000
Renal Hypodysplasia/Aplasia 1
Hypertension OMIM:191830
Pparg-Related Familial Partial Lipodystrophy
Hypertrophic cardiomyopathy, Hypertension, Congestive heart failure ORPHA:79083
Aortic Arch Interruption
Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Shock, Blood pressure su... ORPHA:2299
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Cardiomyopathy, Punctate vasculitis skin lesions, Telangiectasia, Re... ORPHA:247691
Pseudo-Torch Syndrome 3
Hypertension, Cerebral hemorrhage OMIM:618886
Sporadic Pheochromocytoma/Secreting Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:276621
Schimke Immuno-Osseous Dysplasia
Congestive heart failure, Transient ischemic attack, Ischemic stroke, Cerebral ischemia, Pulmonar... ORPHA:1830
Cirrhosis, Familial
Pulmonary arterial hypertension, Hypertension OMIM:215600
Developmental And Epileptic Encephalopathy 111
Premature ventricular contraction, Hypertension, Sinus tachycardia OMIM:620504
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Angina pectoris, Telangiectasia of the s... ORPHA:758
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hypertension OMIM:612924
Frasier Syndrome
Hypertension ORPHA:347
Methylcobalamin Deficiency Type Cble
Hypertension ORPHA:2169
Fibrous Dysplasia Of Bone
Precocious puberty in females, Increased circulating cortisol level, Hypercalcemia, Thyroid carci... ORPHA:249
Serotonin Syndrome
Tachycardia, Hypotension, Hypertension ORPHA:43116
Coach Syndrome 1
Hypertension, Portal hypertension OMIM:216360
Arteriosclerosis, Severe Juvenile
Hypertension, Myocardial infarction OMIM:208060
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hypertension OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hypertension OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hypertension OMIM:612926
Glucagonoma
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... ORPHA:97280
Abdominal Obesity-Metabolic Syndrome 3
Hypertension, Myocardial infarction OMIM:615812
Cocaine Intoxication
Diffuse alveolar hemorrhage, Hypotension, Prolonged QRS complex, Ischemic stroke, Subarachnoid he... ORPHA:90068
Adenine Phosphoribosyltransferase Deficiency
Atrial fibrillation, Hypertension ORPHA:976
Alport Syndrome 2, Autosomal Recessive
Hypertension OMIM:203780
Tubulointerstitial Nephritis And Uveitis Syndrome
Aminoaciduria, Sterile pyuria, Beta 2-microglobulinuria, Decreased glomerular filtration rate, Re... ORPHA:91500
Werner Syndrome
Telangiectasia of the skin, Hypertension, Myocardial infarction, Congestive heart failure ORPHA:902
Schimke Immunoosseous Dysplasia
Transient ischemic attack, Pulmonary arterial hypertension, Hypertension, Cerebral ischemia OMIM:242900
Joubert Syndrome 14
Intracranial hemorrhage, Hypertension OMIM:614424
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Hypertension OMIM:619758
Ethylene Glycol Poisoning
Hypotension, Congestive heart failure, Shock, Prolonged QT interval, Atrial fibrillation, Tachyca... ORPHA:31826
Simple Cryoglobulinemia
Vasculitis, Gastrointestinal hemorrhage, Congestive heart failure, Raynaud phenomenon, Hypertensi... ORPHA:91139
Nephronophthisis 1
Hypertension OMIM:256100
Aicardi-Goutieres Syndrome 9
Hypertension, Portal hypertension, Increased blood pressure, Pericarditis OMIM:619487
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hypertension OMIM:612925
Diffuse Cutaneous Systemic Sclerosis
Telangiectasia of the skin, Hypertensive crisis, Pulmonary arterial hypertension, Congestive hear... ORPHA:220393
Porphyria, Acute Intermittent
Tachycardia, Hypertension OMIM:176000
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Tachycardia, Hypertension, Orthostatic hypotension OMIM:223900
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Renal insufficiency, Pr... OMIM:614748
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypertension OMIM:613095
Overlap Myositis
Pulmonary arterial hypertension, Hypertension, Raynaud phenomenon ORPHA:206572
Acute Interstitial Pneumonia
Hypertension ORPHA:79126
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Telangiectasia of ... ORPHA:3342
Birk-Landau-Perez Syndrome
Hypertension OMIM:617595
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrioventricular block, Hypertension ORPHA:371428
Apparent Mineralocorticoid Excess
Hypertension ORPHA:320
Beta-Ketothiolase Deficiency
Hypotension, Hypertension ORPHA:134
Neuroleptic Malignant Syndrome
Hypertensive crisis, Hypotension, Pulmonary embolism, Arrhythmia, Bradycardia, Tachycardia, Hyper... ORPHA:94093
Hereditary Pheochromocytoma-Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:29072
Aorta Coarctation
Pulmonary arterial hypertension, Hypertension, Congestive heart failure ORPHA:1457
Porphyria Variegata
Tachycardia, Hypertension ORPHA:79473
Poliomyelitis
Hypovolemic shock, Hypotension, Hypertension ORPHA:2912
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Arrhythmia, Hypertension ORPHA:139411
Primary Progressive Freezing Gait
Hypertension ORPHA:75567
Arterial Tortuosity Syndrome
Aortic valve stenosis, Aortic regurgitation, Ischemic stroke, Telangiectases of the cheeks, Hyper... OMIM:208050
Familial Bicuspid Aortic Valve
Aortic valve stenosis, Heart murmur, Aortic regurgitation, Hypertension ORPHA:402075
Neuroblastoma, Susceptibility To, 1
Hypertension OMIM:256700
Scorpion Envenomation
Cardiogenic shock, Prominent U wave, Congestive heart failure, Bundle branch block, Cardiac condu... ORPHA:466677
Telangiectasia, Hereditary Hemorrhagic, Type 2
Nasal mucosa telangiectasia, Facial telangiectasia, Cerebral hemorrhage, Fingerpad telangiectases... OMIM:600376
Alagille Syndrome
Telangiectasia of the skin, Hypertension ORPHA:52
Caudal Regression Syndrome
Hypertension ORPHA:3027
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy, Arrhythmia, Hypertension OMIM:614052
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Tachycardia, Hypertension, Bradycardia OMIM:614653
Acquired Generalized Lipodystrophy
Abnormal cardiovascular system physiology, Hypertension, Cardiomyopathy ORPHA:79086
Familial Dysautonomia
Tachycardia, Hypertension, Orthostatic hypotension ORPHA:1764
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hypertension, Portal hypertension, Hematemesis OMIM:263200
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Transient ischemic attack, Ischemic stroke, Subarachnoid hemorrhage, Abnorm... ORPHA:91387
Nestor-Guillermo Progeria Syndrome
Sinus tachycardia, Mitral regurgitation, Right bundle branch block, Pulmonary arterial hypertensi... OMIM:614008
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hypertension ORPHA:449291
Lead Poisoning
Hypertension ORPHA:330015
Paternal Uniparental Disomy Of Chromosome 1
Hypertension ORPHA:251004
Fabry Disease
Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Bundle branch bloc... ORPHA:324
Spondyloenchondrodysplasia
Vasculitis, Hypertension, Raynaud phenomenon ORPHA:1855
Cushing Disease
Increased circulating cortisol level, Pituitary corticotropic cell adenoma, Increased urinary cor... ORPHA:96253
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hypertension ORPHA:1555
Wagro Syndrome
Hypertension OMIM:612469
Pituitary Adenoma 4, Acth-Secreting
Hypertension OMIM:219090
Crimean-Congo Hemorrhagic Fever
Epistaxis, Diffuse alveolar hemorrhage, Hypotension, Melena, Subdural hemorrhage, Subconjunctival... ORPHA:99827
Livedoid Vasculopathy
Telangiectasia of the skin, Ischemic stroke, Hypertension ORPHA:542643
Autosomal Dominant Dopa-Responsive Dystonia
Hypertension ORPHA:98808
Nephronophthisis-Like Nephropathy 1
Hypertension OMIM:613159
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Congestive heart failure, Mitral regurgitation, Intracranial hemorrhage, H... ORPHA:363618
Renal Hypoplasia
Hypertension ORPHA:93101
Gaisböck Syndrome
Elevated diastolic blood pressure, Angina pectoris, Hypertension, Myocardial infarction, Hypovolemia ORPHA:90041
Low Phospholipid-Associated Cholelithiasis
Hypertension ORPHA:69663
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hypertension OMIM:616914
Pheochromocytoma/Paraganglioma Syndrome 4
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:115310
Igg4-Related Retroperitoneal Fibrosis
Budd-Chiari syndrome, Large vessel vasculitis, Renovascular hypertension, Hypertension ORPHA:49041
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Gastrointestinal hemorrhage, Pulmonary embolism, Cerebral ischemia, Intracranial hemorrhage, Hype... ORPHA:394
Seckel Syndrome 10
Hypertension, Congestive heart failure OMIM:617253
Alexander Disease
Hypertension, Hypotension, Sudden cardiac death ORPHA:58
Hurler Syndrome
Angina pectoris, Hypertension, Cardiomyopathy ORPHA:93473
Combined Oxidative Phosphorylation Deficiency 15
Hypertension, Wolff-Parkinson-White syndrome, Shortened PR interval OMIM:614947
Smooth Muscle Dysfunction Syndrome
Pulmonary arterial hypertension, Hypertension OMIM:613834
Cockayne Syndrome Type 1
Hypertension ORPHA:90321
Fragile X-Associated Tremor/Ataxia Syndrome
Hypotension, Hypertension ORPHA:93256
Von Hippel-Lindau Disease
Cardiomyopathy, Palpitations, Arrhythmia, Myocarditis, Abnormal left ventricular function, Hypert... ORPHA:892
Apert Syndrome
Hypertension ORPHA:87
Xfe Progeroid Syndrome
Hypertension OMIM:610965
Cushing Syndrome Due To Ectopic Acth Secretion
Pulmonary carcinoid tumor, Neuroendocrine neoplasm, Increased circulating cortisol level, Increas... ORPHA:99889
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hypertension OMIM:235400
Granulomatosis With Polyangiitis
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Cerebral ischemia, Hypertension, Angina pecto... ORPHA:900
Galloway-Mowat Syndrome 3
Hypertension OMIM:617729
Neuroblastoma
Hypertension ORPHA:635
Hallermann-Streiff Syndrome
Telangiectasia, Pulmonary arterial hypertension, Hypertension OMIM:234100
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Intracranial hemorrhage, Hypertension ORPHA:90795
Papillorenal Syndrome
Hypertension OMIM:120330
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Elevated circulating 17-hydroxyprogesterone concentration, Decreased circulating dehydroepiandros... OMIM:201750
Posterior Urethral Valve
Hypertension ORPHA:93110
Beare-Stevenson Cutis Gyrata Syndrome
Hypertension OMIM:123790
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypertension, Pulmonary embolism ORPHA:567546
Alport Syndrome 1, X-Linked
Hypertension OMIM:301050
Renal Agenesis
Hypertension ORPHA:411709
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Vasculitis, Dilated cardiomyopathy, Portal hypertension, Raynaud phenomenon, Hypertension OMIM:615688
Sickle Cell Disease
Hypertension OMIM:603903
Acute Intermittent Porphyria
Tachycardia, Hypertension ORPHA:79276
Alport Syndrome 3A, Autosomal Dominant
Hypertension OMIM:104200
Marshall-Smith Syndrome
Premature ventricular contraction, Pulmonary arterial hypertension, Hypertension OMIM:602535
Prader-Willi Syndrome
Hypertension ORPHA:739
Carey-Fineman-Ziter Syndrome
Hypertensive crisis ORPHA:1358
Aicardi-Goutieres Syndrome 7
Vasculitis, Hematochezia, Hypertrophic cardiomyopathy, Hematemesis, Hypertension OMIM:615846
Tsh-Secreting Pituitary Adenoma
Hypotension, Congestive heart failure, Palpitations, Supraventricular arrhythmia, Ventricular arr... ORPHA:91347
Senior-Boichis Syndrome
Hypertension, Portal hypertension ORPHA:84081
Alport Syndrome
Hypertension ORPHA:63
Bardet-Biedl Syndrome 1
Hypertension OMIM:209900
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypertension ORPHA:90793
Alstrom Syndrome
Dilated cardiomyopathy, Hypertension, Congestive heart failure OMIM:203800
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypertension, Myocardial infarction ORPHA:90038
Hunter-Macdonald Syndrome
Aortic regurgitation, Hypertension, Mitral regurgitation OMIM:611962
Postinfectious Vasculitis
Cardiomyopathy, Cerebral vasculitis, Ischemic stroke, Raynaud phenomenon, Vasculitis in the skin,... ORPHA:48435
Familial Osteodysplasia, Anderson Type
Hypertension ORPHA:2769
Au-Kline Syndrome
Hypertension OMIM:616580
Von Hippel-Lindau Syndrome
Hypertension OMIM:193300
Alkaptonuria
Aortic valve stenosis, Mitral regurgitation, Mitral stenosis, Hypertension, Myocardial infarction ORPHA:56
Blau Syndrome
Hypertension, Pericarditis OMIM:186580
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Hypertensive crisis, Hypertension ORPHA:544482
Hutchinson-Gilford Progeria Syndrome
Aortic valve stenosis, Aortic regurgitation, Transient ischemic attack, Left ventricular systolic... ORPHA:740
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypertension ORPHA:95699
Neuroendocrine Neoplasm Of Appendix
Increased serum serotonin, Primary hypercortisolism, Adrenocorticotropic hormone excess, Intestin... ORPHA:100079
Immunodeficiency 87 And Autoimmunity
Pulmonary arterial hypertension, Hypertension, Third degree atrioventricular block, Dilated cardi... OMIM:619573
Myhre Syndrome
Hypertension ORPHA:2588
Scalp-Ear-Nipple Syndrome
Supraventricular tachycardia, Hypertension, Congestive heart failure OMIM:181270
Denys-Drash Syndrome
Hypertension OMIM:194080
Acute Transverse Myelitis
Subarachnoid hemorrhage, Hypertension, Orthostatic hypotension ORPHA:139417
Cockayne Syndrome B
Arrhythmia, Hypertension OMIM:133540
Cockayne Syndrome A
Arrhythmia, Hypertension OMIM:216400
Orofaciodigital Syndrome I
Hypertension OMIM:311200
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hypertension OMIM:266920
Pseudohypoparathyroidism Type 1A
Prolonged QT interval, Hypertension ORPHA:79443
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Epistaxis, Hypertension, Pulmonary venous hypertension ORPHA:79259
Lipodystrophy, Familial Partial, Type 2
Hypertension OMIM:151660
Mucopolysaccharidosis Type 2, Severe Form
Heart murmur, Arrhythmia, Hypertension, Cardiomyopathy ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Heart murmur, Arrhythmia, Hypertension, Cardiomyopathy ORPHA:217093
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hypertension OMIM:617913
Xq21 Microdeletion Syndrome
Hypertension ORPHA:1435
Myhre Syndrome
Aortic valve stenosis, Hypertension OMIM:139210
Mucopolysaccharidosis Type 2
Arrhythmia, Hypertension, Cardiomyopathy ORPHA:580
Arima Syndrome
Hypertension OMIM:243910
Orofaciodigital Syndrome Type 1
Hypertension ORPHA:2750
Cranioectodermal Dysplasia 2
Hypertension OMIM:613610
Cockayne Syndrome
Retinal hemorrhage, Hypertension ORPHA:191
Homozygous Familial Hypercholesterolemia
Supravalvular aortic stenosis, Mitral regurgitation, Hypertension, Angina pectoris, Heart murmur,... ORPHA:391665
Scalp-Ear-Nipple Syndrome
Hypertension ORPHA:2036
Adams-Oliver Syndrome 1
Aortic valve stenosis, Pulmonary arterial hypertension, Hypertension, Pulmonic stenosis OMIM:100300
Carney Complex
Euthyroid multinodular goiter, Precocious puberty, Follicular thyroid carcinoma, Increased circul... ORPHA:1359
Smith-Lemli-Opitz Syndrome
Hypertrophic cardiomyopathy, Ventricular fibrillation, Hypertension OMIM:270400
Hardikar Syndrome
Hypertension, Portal hypertension, Hematemesis OMIM:301068
Multicystic Dysplastic Kidney
Hypertension ORPHA:1851
Williams Syndrome
Congestive heart failure, Hypertrophic cardiomyopathy, Cerebral ischemia, Supravalvular aortic st... ORPHA:904
Multiple Endocrine Neoplasia Type 2
Hypertensive crisis, Palpitations, Hypertension associated with pheochromocytoma ORPHA:653
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Hypertension, Portal hypertension ORPHA:731
Pierson Syndrome
Retinal hemorrhage, Hypertension OMIM:609049
Yunis-Varon Syndrome
Pulmonary arterial hypertension, Renovascular hypertension, Hypertension, Cardiomyopathy ORPHA:3472
Atypical Werner Syndrome
Aortic valve stenosis, Telangiectasia of the skin, Hypertension, Congestive heart failure ORPHA:79474
Tuberous Sclerosis Complex
Hypertension, Internal hemorrhage ORPHA:805
Somatomammotropinoma
Hypertrophic cardiomyopathy, Hypertension, Mitral regurgitation ORPHA:314769
Acromegaly
Hypertrophic cardiomyopathy, Hypertension, Mitral regurgitation ORPHA:963
Lipodystrophy, Familial Partial, Type 7
Pulmonary arterial hypertension, Hypertension, Orthostatic hypotension OMIM:606721
Turner Syndrome Due To Structural X Chromosome Anomalies
Prolonged QT interval, Hypertension, Myocardial infarction ORPHA:99413
Turner Syndrome
Prolonged QT interval, Hypertension, Myocardial infarction ORPHA:881
Mosaic Monosomy X
Prolonged QT interval, Hypertension, Myocardial infarction ORPHA:99228
Monosomy X
Prolonged QT interval, Hypertension, Myocardial infarction ORPHA:99226
Blau Syndrome
Large vessel vasculitis, Pulmonary arterial hypertension, Hypertension, Pericarditis ORPHA:90340
Systemic Lupus Erythematosus
Hypertension, Raynaud phenomenon ORPHA:536
Neurofibromatosis, Type I
Hypertension OMIM:162200
Renal Dysplasia
Hypertension ORPHA:93108
22Q11.2 Deletion Syndrome
Hypertensive crisis, Gastrointestinal hemorrhage, Corneal neovascularization ORPHA:567
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypertrophic cardiomyopathy, Hypertension, Mitral regurgitation OMIM:220111
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hypertension OMIM:210710
Paroxysmal Nocturnal Hemoglobinuria
Budd-Chiari syndrome, Pulmonary embolism, Myocardial infarction, Hypertension ORPHA:447
17Q11 Microdeletion Syndrome
Hypertrophic cardiomyopathy, Pulmonary arterial hypertension, Telangiectasia of the skin, Renovas... ORPHA:97685
Bardet-Biedl Syndrome
Hypertension, Cardiomyopathy ORPHA:110
Keutel Syndrome
Hypertension, Pulmonic stenosis OMIM:245150
Neurofibromatosis Type 1
Hypertension ORPHA:636
Hypomagnesemia 3, Renal
Hypertension OMIM:248250
Congenital Disorder Of Glycosylation, Type Iim
Hypertension OMIM:300896
Generalized Arterial Calcification Of Infancy
Transient ischemic attack, Left ventricular systolic dysfunction, Weak pulse, Pulmonary arterial ... ORPHA:51608
Williams-Beuren Syndrome
Portal hypertension, Supravalvular aortic stenosis, Mitral regurgitation, Hypertension, Pulmonic ... OMIM:194050
Vascular Ehlers-Danlos Syndrome
Transient ischemic attack, Telangiectasia of the skin, Internal hemorrhage, Renovascular hyperten... ORPHA:286
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Hypertension, Corneal neovascularization OMIM:308205
Alström Syndrome
Dilated cardiomyopathy, Congestive heart failure, Portal hypertension, Pulmonary arterial hyperte... ORPHA:64

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 Sgk1

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 Sgk1.

No publications found that use IMPC mice or data for Sgk1.

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
Sgk1tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Sgk1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Sgk1tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Sgk1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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