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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
Hypokalemia, Hyperaldosteronism OMIM:605635
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Increased circulating renin level, Renal salt wasting OMIM:619406
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Adrenocorticotropic hormone excess, Adrenal insufficiency, Hyperaldosteronism, Renal salt wasting OMIM:613743
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Adrenogenital syndrome, Abnormality of the urinary system, Hyperaldosteronis... OMIM:103900
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level OMIM:620126
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperaldosteronism, Hyperkalemia, 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
Hyperaldosteronism, Familial, Type Iv
Hyperaldosteronism OMIM:617027
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Renal salt wasting, Hyperkalemia, Hyperactive renin-angiotensin system, Hyperaldost... OMIM:264350
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hypokalemia, Hyperaldosteronism, Decreased circula... OMIM:613677
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased c... OMIM:177735
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... ORPHA:404
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin... OMIM:613090
Bartter Syndrome, Type 3
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... OMIM:607364
East Syndrome
Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Hyperaldosteronism, Increased... ORPHA:199343
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... ORPHA:251274
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Abnormal circulating renin, Hypokalemia, Dexamethasone-suppressible primary ... ORPHA:403
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal insufficiency, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glomerular filtrati... 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 urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Neoplasm of t... ORPHA:231625
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypochloremia, Hypokalemia, Hyperactive renin-angiotensin system, Increased circula... OMIM:214700
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... OMIM:602522
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... ORPHA:189427
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Hyperaldosteronism, Increased circulating re... OMIM:612780
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldoste... ORPHA:231580
Ectopic Aldosterone-Producing Tumor
Glucocortocoid-insensitive primary hyperaldosteronism, Renal cortical adenoma, Hypokalemia, Adren... ORPHA:231632
Coronary Artery Disease, Autosomal Dominant, 1
Hypertension, Myocardial infarction OMIM:608320
Polycystic Kidney Disease 7
Hypertension OMIM:620056
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Abnormal circulating renin, Nephrolithiasis, Hypokalemia, Hyperaldosteronism... ORPHA:369929
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Nephropathy, Decreased glomerular filtration rate OMIM:242530
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Polyuria, Hypercalcemia,... OMIM:601678
Preeclampsia/Eclampsia 1
Hypertension OMIM:189800
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Bartter Syndrome Type 4
Hyponatremia, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abili... ORPHA:89938
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Glucocortocoid-insensitive primary hyperaldosteronism, Hyperkalemia, Increased circ... ORPHA:171876
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal tubular resorption, Hypercalciuria, Hyperprostaglandinuria, Nephrocalcinosis, Hype... ORPHA:73224
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Increased circulating reni... ORPHA:556037
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2
Lacunar stroke, Hypertension, Transient ischemic attack OMIM:616779
Melorheostosis With Osteopoikilosis
Hypertension ORPHA:1879
Lcat Deficiency
Renal insufficiency, Hypertriglyceridemia, Proteinuria, Stage 5 chronic kidney disease, Acute kid... ORPHA:650
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... OMIM:618061
Spastic Paraplegia-Nephritis-Deafness Syndrome
Hypertension ORPHA:2820
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Ketonuria, Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adeno... ORPHA:79644
Multiple Endocrine Neoplasia, Type Iia
Hyperparathyroidism, Thyroid C cell hyperplasia, Elevated urinary norepinephrine level, Elevated ... OMIM:171400
Nail-Patella-Like Renal Disease
Hypertension ORPHA:2613
Hereditary Renal Hypouricemia
Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe... ORPHA:94088
Trimethylaminuria
Hypertension, Tachycardia OMIM:602079
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Increased circulating reni... ORPHA:556030
Periodic Fever, Menstrual Cycle-Dependent
Increased circulating cortisol level OMIM:614674
Hypertension And Brachydactyly Syndrome
Hypertension OMIM:112410
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Primary hyperaldosteronism, Hypokalemia, Nephrolithiasis, 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
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Renal salt wasting, Increased urina... OMIM:241200
Focal Segmental Glomerulosclerosis 5
Hypertension OMIM:613237
Fanconi Renotubular Syndrome 2
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... OMIM:613388
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hypertension OMIM:607832
Iga Nephropathy, Susceptibility To, 3
Hypertension OMIM:616818
Cystic Hamartoma Of Lung And Kidney
Hypertension ORPHA:2111
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia ORPHA:1345
Orthostatic Hypotension 2
Decreased glomerular filtration rate OMIM:618182
Focal Segmental Glomerulosclerosis 2
Hypertension OMIM:603965
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Pituitary null cell adenoma, Pancreatic islet cell adenoma, Neoplasm of ... ORPHA:97289
Iga Nephropathy, Susceptibility To, 2
Hypertension OMIM:613944
Renal Failure, Progressive, With Hypertension
Hypertension OMIM:161900
Glomerulopathy With Fibronectin Deposits 2
Hypertension OMIM:601894
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Precocious puberty, Hyper... OMIM:614736
Gitelman Syndrome
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Hyperhidrosis, Tubulointers... ORPHA:358
Primary Hyperoxaluria Type 1
Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 chronic kidn... ORPHA:93598
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Hypertension OMIM:605115
Hypocalcemia, Autosomal Dominant 1
Decreased circulating parathyroid hormone level, Hypercalciuria, Nephrolithiasis, Nephrocalcinosi... OMIM:601198
Andersen-Tawil Syndrome
Renal tubular dysfunction, Hyperaldosteronism, Renal hypoplasia ORPHA:37553
Moyamoya Disease With Early-Onset Achalasia
Raynaud phenomenon, Hypertension ORPHA:401945
Liddle Syndrome
Hypertension, Arrhythmia, Cerebral ischemia ORPHA:526
Morbid Obesity And Spermatogenic Failure
Congestive heart failure, Hypertension, Myocardial infarction OMIM:615703
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... ORPHA:730
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Hypertension, Telangiectases producing 'marbled' skin OMIM:206570
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Glomerulopathy With Fibronectin Deposits 1
Hypertension OMIM:137950
Renal Hypoplasia, Bilateral
Failure to thrive, Proteinuria, Small for gestational age, Chronic kidney disease, Oliguria, Rena... ORPHA:97362
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Hyponatr... ORPHA:534
Oligomeganephronia
Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Abnormal ... ORPHA:2260
Adrenal Hypoplasia, Congenital
Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl... OMIM:300200
Lessel-Kubisch Syndrome
Hypertension OMIM:618681
Polycystic Kidney Disease 5
Hypertension OMIM:617610
Maternally-Inherited Diabetes And Deafness
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia ORPHA:225
Grange Syndrome
Aortic regurgitation, Hypertension ORPHA:79094
Pseudohypoaldosteronism, Type Iia
Hypertension OMIM:145260
Iga Nephropathy, Susceptibility To, 1
Hypertension OMIM:161950
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Congestive heart failure, Hypertension, Mitral re... OMIM:614473
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Congestive heart failure, Abnormal left ventricular function, Hyp... OMIM:540000
Leprechaunism
Long penis, Hyperinsulinemia, Hypercalciuria, Central hypothyroidism, Nephrocalcinosis, Hyperaldo... ORPHA:508
Congenital Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Adrenocorti... ORPHA:199296
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Coproporphyria, Hereditary
Hypertension, Tachycardia OMIM:121300
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... ORPHA:3453
Moyamoya Disease 6 With Or Without Achalasia
Raynaud phenomenon, Hypertension, Ischemic stroke OMIM:615750
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertension ORPHA:71529
Glucocorticoid Resistance, Generalized
Increased circulating cortisol level, Increased circulating androstenedione concentration, Increa... OMIM:615962
Preeclampsia
Hypertension, Elevated systolic blood pressure, Elevated diastolic blood pressure ORPHA:275555
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Arrhythmia, Cardiomyopathy ORPHA:3222
Primary Membranoproliferative Glomerulonephritis
Hypertension, Myocardial infarction ORPHA:54370
Pigmented Nodular Adrenocortical Disease, Primary, 4
Diabetes mellitus, Adrenal hyperplasia, Increased body weight, Increased circulating cortisol lev... OMIM:615830
Familial Cervical Artery Dissection
Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral hemorrhage, Hypertension, ... ORPHA:36382
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage ORPHA:84090
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating ACTH concentration, Truncal obesity, Increased circula... OMIM:219080
Hereditary Amyloidosis With Primary Renal Involvement
Renal insufficiency, Proteinuria, Renal interstitial amyloid deposits, Nocturia, Weight loss, Tub... ORPHA:85450
Corticosteroid-Binding Globulin Deficiency
Hypokalemia, Decreased circulating cortisol level, Decreased urinary potassium OMIM:611489
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hypertension OMIM:600666
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Multiple Endocrine Neoplasia, Type I
Hypercalcemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, ... OMIM:131100
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr... ORPHA:90363
Mccune-Albright Syndrome
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... OMIM:174800
Sneddon Syndrome
Intracranial hemorrhage, Hypertension ORPHA:820
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Peripartum Cardiomyopathy
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... ORPHA:563
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Congenital adrenal hyperplasia, Long penis, Decreased circulating aldosterone level, Adrenogenita... OMIM:202010
Familial Partial Lipodystrophy, Köbberling Type
Hypertension ORPHA:79084
Senior-Loken Syndrome
Hypertension ORPHA:3156
Amyloidosis, Familial Visceral
Hypertension OMIM:105200
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... ORPHA:93126
Erythrocytosis, Familial, 1
Hypertension, Cerebral hemorrhage, Myocardial infarction OMIM:133100
Dietary Iron Overload Disease
Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferrin saturation,... ORPHA:139507
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... ORPHA:1227
Nelson Syndrome
Increased urinary cortisol level, Pituitary corticotropic cell adenoma, Adrenocorticotropic hormo... ORPHA:199244
Takayasu Arteritis
Myocardial infarction, Vasculitis, Hypertension, Cerebral ischemia, Pulmonary arterial hypertensi... ORPHA:3287
Potocki-Shaffer Syndrome
Hypertension ORPHA:52022
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Proteinuria, Failure to thrive in infancy, Chronic kidney disease, Tubulointerstitial nephritis, ... ORPHA:488627
Denys-Drash Syndrome
Hypertension ORPHA:220
Pseudohypoaldosteronism Type 2
Hypertension ORPHA:757
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171420
Liddle Syndrome 2
Hypertension OMIM:618114
Liddle Syndrome 3
Hypertension OMIM:618126
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Hypertension, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure ORPHA:1349
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Pseudohypoaldosteronism, Type Iib
Hypertension OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hypertension OMIM:614495
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... ORPHA:66529
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension OMIM:616069
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hypertension, Mitral regurgitation OMIM:173900
Focal Segmental Glomerulosclerosis 1
Hypertension OMIM:603278
Mccune-Albright Syndrome
Abnormal endocrine physiology, Hyperphosphaturia, Hyperthyroidism, Elevated circulating growth ho... ORPHA:562
Lipodystrophy, Familial Partial, Type 4
Hypertension OMIM:613877
Distal Renal Tubular Acidosis
Hyperphosphaturia, Failure to thrive, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria... ORPHA:18
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... ORPHA:31825
Plin1-Related Familial Partial Lipodystrophy
Hypertension ORPHA:280356
Glycogen Storage Disease Ia
Proteinuria, Pancreatitis, Hyperlipidemia, Nephrolithiasis, Focal segmental glomerulosclerosis, X... OMIM:232200
Sneddon Syndrome
Hypertension, Ischemic stroke, Cerebral hemorrhage OMIM:182410
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Hyperparathyroidism, Hypercalcemia, Pituitary null cell adenoma... ORPHA:913
Pituitary Apoplexy
Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... ORPHA:95613
Glutaric Aciduria Iii
Hypertension OMIM:231690
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Cerebral hemorrhage, Intracranial hemorrhage, Hypertension, Lacunar st... ORPHA:136
Systemic Lupus Erythematosus 17
Raynaud phenomenon, Mitral regurgitation, Hypertensive crisis OMIM:301080
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hypertension ORPHA:1192
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... ORPHA:439232
X-Linked Hypohidrotic Ectodermal Dysplasia
Hypertension ORPHA:181
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... OMIM:264800
Central Hypoventilation Syndrome, Congenital, 3
Episodic hypertension OMIM:619483
Polyarteritis Nodosa
Raynaud phenomenon, Cardiomyopathy, Pericarditis, Hypertension ORPHA:767
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypertension OMIM:201910
Idiopathic Non-Lupus Full-House Nephropathy
Hypertension ORPHA:567544
Familial Cerebral Saccular Aneurysm
Intracranial hemorrhage, Hypertension, Transient ischemic attack, Subarachnoid hemorrhage ORPHA:231160
Postorgasmic Illness Syndrome
Hypertension, Palpitations ORPHA:279947
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
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:94080
Ganglioneuroma
Gastrointestinal hemorrhage, Hypertension ORPHA:251992
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... ORPHA:90065
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Hypertension OMIM:202110
Nephronophthisis 18
Hypertension OMIM:615862
Pseudohypoaldosteronism, Type Iie
Hypertension OMIM:614496
Lipodystrophy, Familial Partial, Type 1
Hypertension OMIM:608600
Glycogen Storage Disease Ib
Proteinuria, Pancreatitis, Hyperlipidemia, Nephrolithiasis, Focal segmental glomerulosclerosis, X... OMIM:232220
Coenzyme Q10 Deficiency, Primary, 8
Hypertension OMIM:616733
Coach Syndrome 2
Hypertension OMIM:619111
Glycogen Storage Disease Ic
Renal insufficiency, Proteinuria, Chronic pancreatitis, Hyperlipidemia, Hematuria, Focal segmenta... OMIM:232240
Rhabdoid Tumor
Hypertension, Internal hemorrhage ORPHA:69077
Multicentric Carpotarsal Osteolysis Syndrome
Hypertension OMIM:166300
Riboflavin Transporter Deficiency
Hypertension ORPHA:97229
Abdominal Obesity-Metabolic Syndrome 4
Hypertension, Myocardial infarction OMIM:618620
Bronchial Neuroendocrine Tumor
Elevated circulating growth hormone concentration, Increased circulating ACTH level, Pulmonary ca... ORPHA:97287
Lipodystrophy, Familial Partial, Type 6
Hypertension OMIM:615980
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Hypertension, Tachycardia OMIM:613870
Vipoma
Diabetes mellitus, Hypercalcemia, Follicular thyroid carcinoma, Elevated circulating growth hormo... ORPHA:97282
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:605373
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pancreatic endocrine tumor, Pituitary gonadotropic cell ade... ORPHA:652
Polycythemia Vera
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,... ORPHA:729
Familial Pseudohyperkalemia
Hypertension ORPHA:90044
Pituitary Adenoma 1, Multiple Types
Hypertension, Cardiomyopathy OMIM:102200
Somatostatinoma
Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone concentration, Abnormality ... ORPHA:97283
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertension ORPHA:363400
C3 Glomerulopathy
Hypertension ORPHA:329918
Ochoa Syndrome
Hypertension ORPHA:2704
Hemorrhagic Fever-Renal Syndrome
Anuria, Proteinuria, Glomerulonephritis, Chronic kidney disease, Oliguria, Acute tubulointerstiti... ORPHA:340
Ppoma
Hypercalcemia, Elevated circulating growth hormone concentration, Abnormality of the thyroid glan... ORPHA:97278
Juvenile Paget Disease
Hypertension ORPHA:2801
Lipodystrophy, Familial Partial, Type 5
Hypertension OMIM:615238
Nephroblastoma
Hypertension ORPHA:654
Lysinuric Protein Intolerance
Failure to thrive, Hypertriglyceridemia, Proteinuria, Glomerulonephritis, Decreased response to g... ORPHA:470
Cutis Marmorata Telangiectatica Congenita
Hypertension, Telangiectasia OMIM:219250
Apparent Mineralocorticoid Excess
Hypertension OMIM:218030
Cryoglobulinemia, Familial Mixed
Hypertension OMIM:123550
Grfoma
Hypercalcemia, Elevated circulating growth hormone concentration, Neoplasm of the thymus, Abnorma... ORPHA:97261
Isolated Ectopia Lentis
Hypertension ORPHA:1885
Nephronophthisis 2
Hypertension, Pulmonary insufficiency OMIM:602088
Extracranial Carotid Artery Aneurysm
Subarachnoid hemorrhage, Vasculitis, Hypertension, Cerebral ischemia, Arteritis ORPHA:494424
Pseudohypoaldosteronism, Type Iic
Hypertension OMIM:614492
Heme Oxygenase 1 Deficiency
Hypertension, Epistaxis, Diffuse alveolar hemorrhage OMIM:614034
Stiff Skin Syndrome
Hypertension ORPHA:2833
Gaucher Disease, Type I
Epistaxis, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, Aortic valve sten... OMIM:230800
Paroxysmal Hemicrania
Hypertension ORPHA:157835
Fanconi Renotubular Syndrome 5
Hypertension OMIM:618913
Pheochromocytoma
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171300
Mercury Poisoning
Hypertension, Tachycardia, Hypotension ORPHA:330021
Tetanus
Hypertension, Tachycardia, Bradycardia ORPHA:3299
Infant Botulism
Hypertension, Cardiac arrest, Hypotension ORPHA:178478
Fabry Disease
Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Hype... OMIM:301500
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Second degree atrioventricular block, Pulmonary arterial hypertension OMIM:617021
Alagille Syndrome 2
Hypertension, Pulmonic stenosis OMIM:610205
Fibrous Dysplasia Of Bone
Hyperthyroidism, Precocious puberty in females, Hypercalcemia, Elevated circulating growth hormon... ORPHA:249
Alkaptonuria
Elevated urinary homogentisic acid, Nephrolithiasis, Decreased glomerular filtration rate OMIM:203500
Monosomy 18P
Hypertension ORPHA:1598
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Pulmonary arterial hypertension OMIM:613320
Morgagni-Stewart-Morel Syndrome
Hypertension ORPHA:77296
Glucagonoma
Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone concentration, Abnormality ... ORPHA:97280
Stiff-Person Syndrome
Hypertension, Tachycardia OMIM:184850
Pediatric-Onset Graves Disease
Atrial fibrillation, Congestive heart failure, Hypertension, Palpitations, Sinus tachycardia ORPHA:525731
Pheochromocytoma/Paraganglioma Syndrome 1
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:168000
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypertension, Dilated cardiomyopathy, Cerebral hemorrhage OMIM:300845
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Hypertension OMIM:617763
Lipodystrophy, Familial Partial, Type 3
Hypertension OMIM:604367
Eosinophilic Granulomatosis With Polyangiitis
Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Myocardial infarction, Congestive... ORPHA:183
Arterial Calcification, Generalized, Of Infancy, 1
Hypertension, Dilated cardiomyopathy, Congestive heart failure, Myocardial infarction OMIM:208000
Renal Hypodysplasia/Aplasia 1
Hypertension OMIM:191830
Pparg-Related Familial Partial Lipodystrophy
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure ORPHA:79083
Aortic Arch Interruption
Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substantially higher in arms... ORPHA:2299
Pseudo-Torch Syndrome 3
Hypertension, Cerebral hemorrhage OMIM:618886
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Telangiectasia... ORPHA:247691
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:276621
Schimke Immuno-Osseous Dysplasia
Transient ischemic attack, Congestive heart failure, Hypertension, Ischemic stroke, Cerebral isch... ORPHA:1830
Cirrhosis, Familial
Hypertension, Pulmonary arterial hypertension OMIM:215600
Abdominal Obesity-Metabolic Syndrome 3
Hypertension, Myocardial infarction OMIM:615812
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hypertension OMIM:612924
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R... ORPHA:758
Frasier Syndrome
Hypertension ORPHA:347
Serotonin Syndrome
Hypertension, Tachycardia, Hypotension ORPHA:43116
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
Coach Syndrome 1
Hypertension, Portal hypertension OMIM:216360
Methylcobalamin Deficiency Type Cble
Hypertension ORPHA:2169
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... ORPHA:90068
Adenine Phosphoribosyltransferase Deficiency
Hypertension, Atrial fibrillation ORPHA:976
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal neutrophilic tubulitis, Renal interstitial edema, Sterile pyuria, Renal tubular epithelial ... ORPHA:91500
Alport Syndrome 2, Autosomal Recessive
Hypertension OMIM:203780
Schimke Immunoosseous Dysplasia
Hypertension, Cerebral ischemia, Pulmonary arterial hypertension, Transient ischemic attack OMIM:242900
Porphyria, Acute Intermittent
Hypertension, Tachycardia OMIM:176000
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Raynaud phenomenon, Congestive ... ORPHA:91139
Joubert Syndrome 14
Intracranial hemorrhage, Hypertension OMIM:614424
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Hyperte... ORPHA:31826
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Aicardi-Goutieres Syndrome 9
Hypertension, Pericarditis, Increased blood pressure, Portal hypertension OMIM:619487
Werner Syndrome
Hypertension, Telangiectasia of the skin, Congestive heart failure, Myocardial infarction ORPHA:902
Bardet-Biedl Syndrome
Hypertension ORPHA:110
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hypertension OMIM:612925
Nephronophthisis 1
Hypertension OMIM:256100
Diffuse Cutaneous Systemic Sclerosis
Congestive heart failure, Telangiectasia of the skin, Pulmonary arterial hypertension, Hypertensi... ORPHA:220393
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypertension OMIM:613095
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Hypertension OMIM:619758
Overlap Myositis
Raynaud phenomenon, Hypertension, Pulmonary arterial hypertension ORPHA:206572
Birk-Landau-Perez Syndrome
Hypertension OMIM:617595
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal t... OMIM:614748
Alstrom Syndrome
Hypertension, Dilated cardiomyopathy, Congestive heart failure OMIM:203800
Acute Interstitial Pneumonia
Hypertension ORPHA:79126
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Myoc... ORPHA:3342
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Hypertension, Atrioventricular block ORPHA:371428
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Hypertension, Orthostatic hypotension, Tachycardia OMIM:223900
Primary Progressive Freezing Gait
Hypertension ORPHA:75567
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:29072
Carney Triad
Gastrointestinal hemorrhage, Hypertension, Tachycardia, Arrhythmia ORPHA:139411
Beta-Ketothiolase Deficiency
Hypertension, Hypotension ORPHA:134
Neuroleptic Malignant Syndrome
Tachycardia, Pulmonary embolism, Hypertension, Bradycardia, Hypotension, Arrhythmia, Hypertensive... ORPHA:94093
Poliomyelitis
Hypertension, Hypovolemic shock, Hypotension ORPHA:2912
Apparent Mineralocorticoid Excess
Hypertension ORPHA:320
Porphyria Variegata
Hypertension, Tachycardia ORPHA:79473
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Pancreatic end... ORPHA:99889
Familial Bicuspid Aortic Valve
Aortic regurgitation, Hypertension, Aortic valve stenosis, Heart murmur ORPHA:402075
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Fingerpad telangiectas... OMIM:600376
Arterial Tortuosity Syndrome
Aortic regurgitation, Hypertension, Ischemic stroke, Aortic valve stenosis, Telangiectases of the... OMIM:208050
Caudal Regression Syndrome
Hypertension ORPHA:3027
Neuroblastoma, Susceptibility To, 1
Hypertension OMIM:256700
Alagille Syndrome
Hypertension, Telangiectasia of the skin ORPHA:52
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypertension, Hypertrophic cardiomyopathy, Arrhythmia OMIM:614052
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Transient ischemic attack, Subarachnoid hemorrhage, Hypovolemia, Abnormal l... ORPHA:91387
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hypertension ORPHA:449291
Acquired Generalized Lipodystrophy
Cardiomyopathy, Abnormal cardiovascular system physiology, Hypertension ORPHA:79086
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c... OMIM:201750
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Transient ischemic attack, Tel... ORPHA:324
Scorpion Envenomation
Bundle branch block, Tachycardia, Cardiac conduction abnormality, Congestive heart failure, Myoca... ORPHA:466677
Paternal Uniparental Disomy Of Chromosome 1
Hypertension ORPHA:251004
Spondyloenchondrodysplasia
Raynaud phenomenon, Hypertension, Vasculitis ORPHA:1855
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia OMIM:614653
Lead Poisoning
Hypertension ORPHA:330015
Familial Dysautonomia
Hypertension, Orthostatic hypotension, Tachycardia ORPHA:1764
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hematemesis, Hypertension, Portal hypertension OMIM:263200
Pituitary Adenoma 4, Acth-Secreting
Hypertension OMIM:219090
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hypertension ORPHA:1555
Aorta Coarctation
Congestive heart failure, Hypertension, Pulmonary arterial hypertension ORPHA:1457
Wagro Syndrome
Hypertension OMIM:612469
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Tachycardia, Epistaxis, Diffuse alveolar hemorrhage, Hematemesis, Myocarditi... ORPHA:99827
Nestor-Guillermo Progeria Syndrome
Right bundle branch block, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, S... OMIM:614008
Autosomal Dominant Dopa-Responsive Dystonia
Hypertension ORPHA:98808
Livedoid Vasculopathy
Telangiectasia of the skin, Hypertension, Ischemic stroke ORPHA:542643
Lmna-Related Cardiocutaneous Progeria Syndrome
Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral regurgitation, Aortic val... ORPHA:363618
Renal Hypoplasia
Hypertension ORPHA:93101
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hypertension OMIM:616914
Pheochromocytoma/Paraganglioma Syndrome 4
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:115310
Low Phospholipid-Associated Cholelithiasis
Hypertension ORPHA:69663
Gaisböck Syndrome
Angina pectoris, Myocardial infarction, Hypovolemia, Elevated diastolic blood pressure, Hypertension ORPHA:90041
Igg4-Related Retroperitoneal Fibrosis
Budd-Chiari syndrome, Hypertension, Renovascular hypertension, Large vessel vasculitis ORPHA:49041
Classic Homocystinuria
Gastrointestinal hemorrhage, Pulmonary embolism, Intracranial hemorrhage, Hypertension, Cerebral ... ORPHA:394
Nephronophthisis-Like Nephropathy 1
Hypertension OMIM:613159
Seckel Syndrome 10
Hypertension, Congestive heart failure OMIM:617253
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Hypertension, Shortened PR interval OMIM:614947
Multisystemic Smooth Muscle Dysfunction Syndrome
Hypertension, Pulmonary arterial hypertension OMIM:613834
Alexander Disease
Hypotension, Hypertension, Sudden cardiac death ORPHA:58
Hurler Syndrome
Cardiomyopathy, Hypertension, Angina pectoris ORPHA:93473
Fragile X-Associated Tremor/Ataxia Syndrome
Hypertension, Hypotension ORPHA:93256
Von Hippel-Lindau Disease
Myocardial infarction, Myocarditis, Abnormal left ventricular function, Cardiomyopathy, Hypertens... ORPHA:892
Apert Syndrome
Hypertension ORPHA:87
Cockayne Syndrome Type 1
Hypertension ORPHA:90321
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hypertension OMIM:235400
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina pectoris, ... ORPHA:900
Galloway-Mowat Syndrome 3
Hypertension OMIM:617729
Xfe Progeroid Syndrome
Hypertension OMIM:610965
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Intracranial hemorrhage, Hypertension ORPHA:90795
Papillorenal Syndrome
Hypertension OMIM:120330
Hallermann-Streiff Syndrome
Hypertension, Pulmonary arterial hypertension, Telangiectasia OMIM:234100
Beare-Stevenson Cutis Gyrata Syndrome
Hypertension OMIM:123790
Renal Agenesis
Hypertension ORPHA:411709
Posterior Urethral Valve
Hypertension ORPHA:93110
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Portal hypertension, Raynaud phenomenon, Vasculitis, Dilated cardiomyopathy, Hypertension OMIM:615688
Alport Syndrome 1, X-Linked
Hypertension OMIM:301050
Acute Intermittent Porphyria
Hypertension, Tachycardia ORPHA:79276
Neuroendocrine Neoplasm Of Appendix
Primary hypercortisolism, Intestinal carcinoid, Increased serum serotonin, Adrenocorticotropic ho... ORPHA:100079
Sickle Cell Disease
Hypertension OMIM:603903
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypertension, Pulmonary embolism ORPHA:567546
Alport Syndrome 3A, Autosomal Dominant
Hypertension OMIM:104200
Marshall-Smith Syndrome
Pulmonary arterial hypertension, Hypertension, Premature ventricular contraction OMIM:602535
Carey-Fineman-Ziter Syndrome
Hypertensive crisis ORPHA:1358
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Congestive heart failure, Hypertension, Palpitations, Hypotension, V... ORPHA:91347
Prader-Willi Syndrome
Hypertension ORPHA:739
Senior-Boichis Syndrome
Hypertension, Portal hypertension ORPHA:84081
Alkaptonuria
Hypertension, Myocardial infarction ORPHA:56
Aicardi-Goutieres Syndrome 7
Hematemesis, Vasculitis, Hematochezia, Hypertension, Hypertrophic cardiomyopathy OMIM:615846
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypertension ORPHA:90793
Bardet-Biedl Syndrome 1
Hypertension OMIM:209900
Alport Syndrome
Hypertension ORPHA:63
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Elevated circulating growth hormone ... ORPHA:1359
Hunter-Macdonald Syndrome
Aortic regurgitation, Hypertension, Mitral regurgitation OMIM:611962
Familial Osteodysplasia, Anderson Type
Hypertension ORPHA:2769
Au-Kline Syndrome
Hypertension OMIM:616580
Postinfectious Vasculitis
Cerebral vasculitis, Raynaud phenomenon, Cardiomyopathy, Hypertension, Ischemic stroke, Vasculiti... ORPHA:48435
Von Hippel-Lindau Syndrome
Hypertension OMIM:193300
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypertension, Myocardial infarction ORPHA:90038
Blau Syndrome
Hypertension, Pericarditis OMIM:186580
Pseudohypoparathyroidism Type 1A
Prolonged QT interval, Hypertension ORPHA:79443
Hutchinson-Gilford Progeria Syndrome
Aortic regurgitation, Mitral stenosis, Angina pectoris, Myocardial infarction, Transient ischemic... ORPHA:740
Myhre Syndrome
Hypertension ORPHA:2588
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypertension ORPHA:95699
Denys-Drash Syndrome
Hypertension OMIM:194080
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Hypertension, Hypertensive crisis ORPHA:544482
Scalp-Ear-Nipple Syndrome
Supraventricular tachycardia, Hypertension, Congestive heart failure OMIM:181270
Lipodystrophy, Familial Partial, Type 2
Hypertension OMIM:151660
Immunodeficiency 87 And Autoimmunity
Hypertension, Third degree atrioventricular block, Dilated cardiomyopathy, Pulmonary arterial hyp... OMIM:619573
Acute Transverse Myelitis
Hypertension, Orthostatic hypotension, Subarachnoid hemorrhage ORPHA:139417
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hypertension OMIM:266920
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertension, Pulmonary venous hypertension, Epistaxis ORPHA:79259
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hypertension OMIM:617913
Cockayne Syndrome B
Hypertension, Arrhythmia OMIM:133540
Cockayne Syndrome A
Hypertension, Arrhythmia OMIM:216400
Orofaciodigital Syndrome I
Hypertension OMIM:311200
Mucopolysaccharidosis Type 2, Severe Form
Cardiomyopathy, Arrhythmia, Hypertension, Heart murmur ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Cardiomyopathy, Arrhythmia, Hypertension, Heart murmur ORPHA:217093
Xq21 Microdeletion Syndrome
Hypertension ORPHA:1435
Arima Syndrome
Hypertension OMIM:243910
Orofaciodigital Syndrome Type 1
Hypertension ORPHA:2750
Homozygous Familial Hypercholesterolemia
Angina pectoris, Sudden cardiac death, Myocardial infarction, Heart murmur, Abnormal left ventric... ORPHA:391665
Scalp-Ear-Nipple Syndrome
Hypertension ORPHA:2036
Myhre Syndrome
Hypertension, Aortic valve stenosis OMIM:139210
Adams-Oliver Syndrome 1
Hypertension, Aortic valve stenosis, Pulmonary arterial hypertension, Pulmonic stenosis OMIM:100300
Mucopolysaccharidosis Type 2
Cardiomyopathy, Arrhythmia, Hypertension ORPHA:580
Cranioectodermal Dysplasia 2
Hypertension OMIM:613610
Smith-Lemli-Opitz Syndrome
Hypertension, Hypertrophic cardiomyopathy, Ventricular fibrillation OMIM:270400
Cockayne Syndrome
Hypertension, Retinal hemorrhage ORPHA:191
Hardikar Syndrome
Hematemesis, Hypertension, Portal hypertension OMIM:301068
Systemic Lupus Erythematosus
Raynaud phenomenon, Hypertension ORPHA:536
Multiple Endocrine Neoplasia Type 2
Palpitations, Hypertensive crisis, Hypertension associated with pheochromocytoma ORPHA:653
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Hypertension, Portal hypertension ORPHA:731
Pierson Syndrome
Hypertension, Retinal hemorrhage OMIM:609049
Yunis-Varon Syndrome
Pulmonary arterial hypertension, Hypertension, Renovascular hypertension, Cardiomyopathy ORPHA:3472
Williams Syndrome
Sudden cardiac death, Myocardial infarction, Congestive heart failure, Renovascular hypertension,... ORPHA:904
Atypical Werner Syndrome
Hypertension, Aortic valve stenosis, Telangiectasia of the skin, Congestive heart failure ORPHA:79474
Tuberous Sclerosis Complex
Hypertension, Internal hemorrhage ORPHA:805
Somatomammotropinoma
Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy ORPHA:314769
Acromegaly
Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy ORPHA:963
Neurofibromatosis, Type I
Hypertension OMIM:162200
Blau Syndrome
Hypertension, Pericarditis, Pulmonary arterial hypertension, Large vessel vasculitis ORPHA:90340
Lipodystrophy, Familial Partial, Type 7
Hypertension, Orthostatic hypotension, Pulmonary arterial hypertension 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
17Q11 Microdeletion Syndrome
Telangiectasia of the skin, Renovascular hypertension, Hypertension, Pulmonic stenosis, Pulmonary... ORPHA:97685
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Corneal neovascularization, Hypertensive crisis ORPHA:567
Renal Dysplasia
Hypertension ORPHA:93108
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy OMIM:220111
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hypertension OMIM:210710
Paroxysmal Nocturnal Hemoglobinuria
Hypertension, Budd-Chiari syndrome, Myocardial infarction, Pulmonary embolism ORPHA:447
Neurofibromatosis Type 1
Hypertension ORPHA:636
Keutel Syndrome
Hypertension, Pulmonic stenosis OMIM:245150
Congenital Disorder Of Glycosylation, Type Iim
Hypertension OMIM:300896
Williams-Beuren Syndrome
Portal hypertension, Hypertension, Mitral regurgitation, Pulmonic stenosis, Supravalvular aortic ... OMIM:194050
Generalized Arterial Calcification Of Infancy
Transient ischemic attack, Retinal hemorrhage, Hypertension, Weak pulse, Left ventricular systoli... ORPHA:51608
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Hypertension, Corneal neovascularization OMIM:308205
Vascular Ehlers-Danlos Syndrome
Telangiectasia of the skin, Transient ischemic attack, Renovascular hypertension, Hypertension, I... ORPHA:286
Alström Syndrome
Portal hypertension, Congestive heart failure, Dilated cardiomyopathy, Hypertension, Abnormal cor... 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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