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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 systolic blood pressure, Elevated diastolic blood pressure, Elevated mean arterial pressure OMIM:145500
Hyperaldosteronism, Familial, Type Ii
Hyperaldosteronism, Hypokalemia OMIM:605635
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Renal salt wasting, Increased circulating renin level OMIM:619406
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Adrenal insufficiency, Hyperaldosteronism, Adrenocorticotropic hormone excess, Renal salt wasting OMIM:613743
Hyperaldosteronism, Familial, Type I
Adrenogenital syndrome, Hyperaldosteronism, Decreased circulating renin level, Adrenal hyperplasi... OMIM:103900
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperaldosteronism, Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:620126
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperaldosteronism, Hyperkalemia, Increased circulating renin level, Hyponatremia 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
Hyperaldosteronism, Pseudohypoaldosteronism, Hyperkalemia, Renal salt wasting, Hyponatremia, Hype... OMIM:264350
Congenital Pulmonary Veins Atresia Or Stenosis
Hypertension ORPHA:3188
Hyperaldosteronism, Familial, Type Iii
Hyperaldosteronism, Decreased circulating renin level, Hypokalemia, Adrenal hyperplasia, Polyuria... OMIM:613677
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperaldosteronism, Pseudohypoaldosteronism, Hyperkalemia, Increased circulating renin level, Hyp... OMIM:177735
Adrenocortical Carcinoma
Increased serum estradiol, Hyperhidrosis, Hyperaldosteronism, Increased circulating cortisol leve... ORPHA:1501
Familial Hyperaldosteronism Type Ii
Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Adrenal hyperplasia, Abnormal... ORPHA:404
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperaldosteronism, Hypokalemia, Renal salt wasting, Hypernatriuria, Hyperchloriduria, Increased ... OMIM:613090
Bartter Syndrome, Type 3
Hyperaldosteronism, Hypokalemia, Renal salt wasting, Increased circulating renin level, Hyperchlo... OMIM:607364
East Syndrome
Hyperaldosteronism, Renal sodium wasting, Hypokalemia, Renal salt wasting, Increased circulating ... ORPHA:199343
Familial Hyperaldosteronism Type Iii
Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Adrenal hyperplasia, Abnormal... ORPHA:251274
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal tubular atrophy, Nephritis, Nephropathy, Decreased glomerular filtration rate, Renal insuff... OMIM:162000
Paragangliomas 6
Hypertension OMIM:618464
Familial Hyperaldosteronism Type I
Hypokalemia, Abnormal circulating renin, Adrenal hyperplasia, Secretory adrenocortical adenoma, D... ORPHA:403
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hyperaldosteronism, Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decre... ORPHA:189427
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension OMIM:166990
Diarrhea 1, Secretory Chloride, Congenital
Hyperaldosteronism, Hypokalemia, Increased circulating renin level, Hypochloremia, Hyponatremia, ... OMIM:214700
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Glucocortocoid-insensitive primary hyperaldosteronism, Increased circulating cortisol level, Decr... ORPHA:231625
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Impaired renal concentrating ability, Hyperaldosteronism, Hypokalemia, Renal salt wasting, Hypern... OMIM:602522
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hyperaldosteronism, Renal sodium wasting, Hypokalemia, Renal salt wasting, Increased circulating ... OMIM:612780
Primary Unilateral Adrenal Hyperplasia
Glucocortocoid-insensitive primary hyperaldosteronism, Decreased circulating renin level, Hypokal... ORPHA:231580
Ectopic Aldosterone-Producing Tumor
Glucocortocoid-insensitive primary hyperaldosteronism, Decreased circulating renin level, Hypokal... ORPHA:231632
Coronary Artery Disease, Autosomal Dominant, 1
Myocardial infarction, Hypertension OMIM:608320
Polycystic Kidney Disease 7
Hypertension OMIM:620056
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hyperaldosteronism, Hypokalemia, Adrenal hyperplasia, Abnormal circulating renin, Dexamethasone-s... ORPHA:369929
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Nephropathy, Decreased glomerular filtration rate OMIM:242530
Bartter Syndrome, Type 1, Antenatal
Increased serum prostaglandin E2, Hyposthenuria, Hyperaldosteronism, Hyperprostaglandinuria, Hypo... OMIM:601678
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Paroxysmal atrial fibrillation, Hypertension, ST segment elevation OMIM:615378
Bartter Syndrome Type 4
Impaired renal concentrating ability, Hyperaldosteronism, Acute kidney injury, Stage 5 chronic ki... ORPHA:89938
Generalized Pseudohypoaldosteronism Type 1
Glucocortocoid-insensitive primary hyperaldosteronism, Hyperkalemia, Increased circulating renin ... ORPHA:171876
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal tubular resorption, Hypocalcemic tetany, Hyperaldosteronism, Hyperprostaglandinuri... ORPHA:73224
Late-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Abnormal circulating corticosterone level, Renal sodium ... ORPHA:556037
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2
Transient ischemic attack, Lacunar stroke, Hypertension OMIM:616779
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Lcat Deficiency
Renal insufficiency, Acute kidney injury, Stage 5 chronic kidney disease, Decreased glomerular fi... ORPHA:650
Melorheostosis With Osteopoikilosis
Hypertension ORPHA:1879
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glomerular filtration rate... OMIM:618061
Spastic Paraplegia-Nephritis-Deafness Syndrome
Hypertension ORPHA:2820
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Increased C-peptide level, Multiple pancreatic beta-cell adenomas, Increased circulating cortisol... ORPHA:79644
Periodic Fever, Menstrual Cycle-Dependent
Increased circulating cortisol level OMIM:614674
Multiple Endocrine Neoplasia, Type Iia
Medullary thyroid carcinoma, Elevated urinary vanillylmandelic acid, Parathyroid adenoma, Increas... OMIM:171400
Preeclampsia/Eclampsia 1
Hypertension OMIM:189800
Hereditary Renal Hypouricemia
Acute kidney injury, Abnormal renal tubule morphology, Hematuria, Abnormal renal physiology, Hype... ORPHA:94088
Nail-Patella-Like Renal Disease
Hypertension ORPHA:2613
Liddle Syndrome 3
Hypertension OMIM:618126
Early-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Abnormal circulating corticosterone level, Renal sodium ... ORPHA:556030
Hypertension And Brachydactyly Syndrome
Hypertension OMIM:112410
Trimethylaminuria
Tachycardia, Hypertension OMIM:602079
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Decreased circulating renin level, Hypokalemia, Primary hyperaldosteronism, Nephrolithiasis OMIM:615474
Coronary Artery Disease, Autosomal Dominant 2
Sudden cardiac death, Myocardial infarction, Hypertension OMIM:610947
Bartter Syndrome, Type 2, Antenatal
Increased serum prostaglandin E2, Hyposthenuria, Hyperaldosteronism, Hyperprostaglandinuria, Hypo... OMIM:241200
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Proximal tubulopathy, Glycosuria, Generalized aminoaciduria, Elevated ci... OMIM:613388
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... OMIM:615954
Focal Segmental Glomerulosclerosis 5
Hypertension OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hypertension OMIM:607832
Iga Nephropathy, Susceptibility To, 3
Hypertension OMIM:616818
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythmia ORPHA:1345
Cystic Hamartoma Of Lung And Kidney
Hypertension ORPHA:2111
Orthostatic Hypotension 2
Decreased glomerular filtration rate OMIM:618182
Focal Segmental Glomerulosclerosis 2
Hypertension OMIM:603965
Thymic Neuroendocrine Tumor
Increased circulating prolactin concentration, Neoplasm of the thymus, Neoplasm of the endocrine ... ORPHA:97289
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal tubular atrophy, Proximal tubulopathy, Renal insufficiency, Microscopic hematuria, Glomerul... OMIM:310468
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
Precocious puberty, Increased circulating ACTH level, Decreased circulating cortisol level, Hyper... OMIM:614736
Gitelman Syndrome
Parathyroid adenoma, Graves disease, Decreased urinary potassium, Hyperhidrosis, Renal tubular ac... ORPHA:358
Hypocalcemia, Autosomal Dominant 1
Increased circulating renin level, Decreased glomerular filtration rate, Nephrocalcinosis, Decrea... OMIM:601198
Primary Hyperoxaluria Type 1
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Dysuria, Nephrocalcinosis, He... ORPHA:93598
Andersen-Tawil Syndrome
Renal hypoplasia, Hyperaldosteronism, Renal tubular dysfunction ORPHA:37553
Moyamoya Disease With Early-Onset Achalasia
Raynaud phenomenon, Hypertension ORPHA:401945
Liddle Syndrome
Hypertension, Cerebral ischemia, Arrhythmia ORPHA:526
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Hypertension OMIM:605115
Morbid Obesity And Spermatogenic Failure
Myocardial infarction, Congestive heart failure, Hypertension OMIM:615703
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Renal cortic... OMIM:174000
Autosomal Dominant Polycystic Kidney Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged kidney, Pyelonephrit... ORPHA:730
Congenital Megacalycosis
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... ORPHA:93109
Renal Hypoplasia, Bilateral
Vesicoureteral reflux, Beta 2-microglobulinuria, Microscopic hematuria, Glycosuria, Small for ges... ORPHA:97362
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased serum testosterone level, Increased circulating cortisol level, Decreased circulating d... OMIM:610489
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Hypertension, Telangiectases producing 'marbled' skin OMIM:206570
Glomerulopathy With Fibronectin Deposits 1
Hypertension OMIM:137950
Oculocerebrorenal Syndrome Of Lowe
Glomerulopathy, Aminoaciduria, Hypercholesterolemia, Hyponatremia, Nephrolithiasis, Diabetes insi... ORPHA:534
Oligomeganephronia
Renal tubular atrophy, Abnormal renal cortex morphology, Abnormal nephron morphology, Stage 5 chr... ORPHA:2260
Lessel-Kubisch Syndrome
Hypertension OMIM:618681
Polycystic Kidney Disease 5
Hypertension OMIM:617610
Adrenal Hypoplasia, Congenital
Precocious puberty, Decreased circulating aldosterone level, Adrenal insufficiency, Decreased cir... OMIM:300200
Grange Syndrome
Aortic regurgitation, Hypertension ORPHA:79094
Maternally-Inherited Diabetes And Deafness
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia ORPHA:225
Pseudohypoaldosteronism, Type Iia
Hypertension OMIM:145260
Iga Nephropathy, Susceptibility To, 1
Hypertension OMIM:161950
Focal Segmental Glomerulosclerosis 1
Hypertension OMIM:603278
Leprechaunism
Central hypothyroidism, Hyperinsulinemia, Hyperaldosteronism, Decreased body weight, Enlarged kid... ORPHA:508
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Hypertension, Congestive heart failure, Abnormal left ventricular... OMIM:540000
Arterial Calcification, Generalized, Of Infancy, 2
Reduced left ventricular ejection fraction, Sinus tachycardia, Cardiogenic shock, Hypertension, C... OMIM:614473
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Hyperkalemia, Adrenocorticotropin deficient adrenal insuffi... ORPHA:199296
Autoimmune Polyendocrinopathy Type 1
Decreased circulating aldosterone level, Increased circulating cortisol level, Adrenal hyperplasi... ORPHA:3453
Moyamoya Disease 6 With Or Without Achalasia
Hypertension, Raynaud phenomenon, Ischemic stroke OMIM:615750
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Arrhythmia OMIM:617021
Preeclampsia
Elevated systolic blood pressure, Elevated diastolic blood pressure, Hypertension ORPHA:275555
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertension ORPHA:71529
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Hypertension, Arrhythmia ORPHA:3222
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Decreased circulating ACTH level, Pigmented micronodular ad... OMIM:610475
Coproporphyria, Hereditary
Tachycardia, Hypertension OMIM:121300
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Adrenal hyperplasia, Primary hypercortisolism, Diabetes mel... OMIM:615830
Primary Membranoproliferative Glomerulonephritis
Myocardial infarction, Hypertension ORPHA:54370
Familial Cervical Artery Dissection
Cerebral ischemia, Transient ischemic attack, Hypertension, Subarachnoid hemorrhage, Recurrent ce... ORPHA:36382
Hereditary Amyloidosis With Primary Renal Involvement
Renal tubular atrophy, Tubulointerstitial nephritis, Hypogonadism, Nephrotic syndrome, Renal inte... ORPHA:85450
Glucocorticoid Resistance, Generalized
Increased circulating androstenedione concentration, Increased circulating ACTH level, Increased ... OMIM:615962
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage ORPHA:84090
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Parathyroid adenoma, Hyperinsulinemic hypoglycemia, Pituita... ORPHA:276152
Corticosteroid-Binding Globulin Deficiency
Hypokalemia, Decreased circulating cortisol level, Decreased urinary potassium OMIM:611489
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... OMIM:219080
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hypertension OMIM:600666
Secondary Intestinal Lymphangiectasia
Decreased prealbumin level, Secondary hyperaldosteronism, Reduced circulating transferrin concent... ORPHA:90363
Multiple Endocrine Neoplasia, Type I
Increased circulating prolactin concentration, Parathyroid adenoma, Increased circulating cortiso... OMIM:131100
Mccune-Albright Syndrome
Increased circulating prolactin concentration, Precocious puberty, Hyperthyroidism, Increased cir... OMIM:174800
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Adrenal insuffici... OMIM:609734
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Adrenogenital syndrome, Increased serum testosterone level, Decreased circulating aldosterone lev... OMIM:202010
Familial Partial Lipodystrophy, Köbberling Type
Hypertension ORPHA:79084
Sneddon Syndrome
Hypertension, Intracranial hemorrhage ORPHA:820
Peripartum Cardiomyopathy
Pulmonary arterial hypertension, Abnormal T-wave, Reduced left ventricular ejection fraction, Hea... ORPHA:563
Senior-Loken Syndrome
Hypertension ORPHA:3156
Pauci-Immune Glomerulonephritis
Nephrotic range proteinuria, Tubulointerstitial nephritis, Acute kidney injury, Glomerular sclero... ORPHA:93126
Erythrocytosis, Familial, 1
Myocardial infarction, Hypertension, Cerebral hemorrhage OMIM:133100
African Iron Overload
Abnormal thyroid morphology, Increased circulating cortisol level, Abnormality of adrenal morphol... ORPHA:139507
Bangstad Syndrome
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Increased circulating cortisol l... ORPHA:1227
Primary Pigmented Nodular Adrenocortical Disease
Increased circulating cortisol level, Type II diabetes mellitus, Decreased circulating ACTH level... ORPHA:189439
Amyloidosis, Familial Visceral
Hypertension OMIM:105200
Nelson Syndrome
Diabetes insipidus, Increased circulating prolactin concentration, Pituitary corticotropic cell a... ORPHA:199244
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Pulmonary arterial hypertension, Hypertension OMIM:613355
Denys-Drash Syndrome
Hypertension ORPHA:220
Takayasu Arteritis
Pulmonary arterial hypertension, Cerebral ischemia, Hypertension, Hypertrophic cardiomyopathy, My... ORPHA:3287
Potocki-Shaffer Syndrome
Hypertension ORPHA:52022
Pseudohypoaldosteronism Type 2
Hypertension ORPHA:757
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Episodic hyperten... OMIM:171420
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Tubulointerstitial nephritis, Nephrotic syndrome, Decreased glomerular filtration rate, Proteinur... ORPHA:488627
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Decreased circulating aldosterone level, Increased circulating cortisol level... ORPHA:786
Pseudohypoaldosteronism, Type Iib
Hypertension OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hypertension OMIM:614495
Tako-Tsubo Cardiomyopathy
Hypotension, T-wave inversion, Ventricular arrhythmia, Cardiogenic shock, Mildly reduced left ven... ORPHA:66529
Liddle Syndrome 2
Hypertension OMIM:618114
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Dilated cardiomyopathy ORPHA:1349
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Mitral regurgitation, Hypertension OMIM:173900
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension OMIM:616069
Zollinger-Ellison Syndrome
Pituitary corticotropic cell adenoma, Increased circulating cortisol level, Increased glucagon le... ORPHA:913
Mccune-Albright Syndrome
Renal phosphate wasting, Increased circulating prolactin concentration, Precocious puberty, Hyper... ORPHA:562
Lipodystrophy, Familial Partial, Type 4
Hypertension OMIM:613877
Plin1-Related Familial Partial Lipodystrophy
Hypertension ORPHA:280356
Methanol Poisoning
Permanent atrial fibrillation, Cerebral hemorrhage, Intracranial hemorrhage, Inflammatory arterio... ORPHA:31825
Glycogen Storage Disease Ia
Enlarged kidney, Delayed puberty, Decreased glomerular filtration rate, Hyperlipidemia, Xanthelas... OMIM:232200
Distal Renal Tubular Acidosis
Aminoaciduria, Proximal tubulopathy, Hypocitraturia, Hypermagnesiuria, Hyperphosphaturia, Renal c... ORPHA:18
Atrioventricular septal defect 3
Pulmonary arterial hypertension, Midsystolic murmur, Hypertension, Congestive heart failure, Firs... OMIM:600309
Sneddon Syndrome
Hypertension, Ischemic stroke, Cerebral hemorrhage OMIM:182410
Glutaric Aciduria Iii
Hypertension OMIM:231690
Pituitary Apoplexy
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... ORPHA:95613
Pulmonary Hypertension, Primary, 1
Pulmonary arterial hypertension, Telangiectasia, Hypertension, Increased pulmonary vascular resis... OMIM:178600
X-Linked Hypohidrotic Ectodermal Dysplasia
Hypertension ORPHA:181
Polyarteritis Nodosa
Pericarditis, Raynaud phenomenon, Hypertension, Cardiomyopathy ORPHA:767
Pseudoxanthoma Elasticum
Retinal hemorrhage, Restrictive cardiomyopathy, Mitral stenosis, Intermittent claudication, Angin... OMIM:264800
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypertension OMIM:201910
Aapoaiv Amyloidosis
Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Hypertension, ... ORPHA:439232
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hypertension ORPHA:1192
Idiopathic Non-Lupus Full-House Nephropathy
Hypertension ORPHA:567544
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Subarachnoid hemorrhage, Intracranial hemorrhage, Hypertension ORPHA:231160
Central Hypoventilation Syndrome, Congenital, 3
Episodic hypertension OMIM:619483
Systemic Lupus Erythematosus 17
Hypertensive crisis, Raynaud phenomenon, Mitral regurgitation OMIM:301080
Acquired Aneurysmal Subarachnoid Hemorrhage
Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Syncope, ST segment depression, Congesti... ORPHA:90065
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Hypertension OMIM:202110
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Transient ischemic attack, Intracranial ... ORPHA:136
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Hypertension, Ischemic stroke, Cerebral hemorrhage, Dilated cardiomyopathy ORPHA:280679
Nephronophthisis 18
Hypertension OMIM:615862
Lipodystrophy, Familial Partial, Type 1
Hypertension OMIM:608600
Pseudohypoaldosteronism, Type Iie
Hypertension OMIM:614496
Glycogen Storage Disease Ib
Enlarged kidney, Delayed puberty, Decreased glomerular filtration rate, Hyperlipidemia, Xanthelas... OMIM:232220
Postorgasmic Illness Syndrome
Palpitations, Hypertension ORPHA:279947
Ganglioneuroma
Hypertension, Gastrointestinal hemorrhage ORPHA:251992
Coenzyme Q10 Deficiency, Primary, 8
Hypertension OMIM:616733
Non-Functioning Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:94080
Coach Syndrome 2
Hypertension OMIM:619111
Rhabdoid Tumor
Hypertension, Internal hemorrhage ORPHA:69077
Multicentric Carpotarsal Osteolysis Syndrome
Hypertension OMIM:166300
Vipoma
Increased circulating prolactin concentration, Parathyroid adenoma, Increased circulating cortiso... ORPHA:97282
Glycogen Storage Disease Ic
Chronic pancreatitis, Hematuria, Delayed puberty, Decreased glomerular filtration rate, Hyperlipi... OMIM:232240
Riboflavin Transporter Deficiency
Hypertension ORPHA:97229
Bronchial Neuroendocrine Tumor
Increased circulating cortisol level, Weight loss, Increased circulating ACTH level, Increased se... ORPHA:97287
Lipodystrophy, Familial Partial, Type 6
Hypertension OMIM:615980
Liddle Syndrome 1
Hypertension OMIM:177200
Abdominal Obesity-Metabolic Syndrome 4
Myocardial infarction, Hypertension OMIM:618620
Somatostatinoma
Increased circulating prolactin concentration, Parathyroid adenoma, Increased circulating cortiso... ORPHA:97283
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Hypertension OMIM:613870
Multiple Endocrine Neoplasia Type 1
Pituitary thyrotropic cell adenoma, Pituitary corticotropic cell adenoma, Pituitary null cell ade... ORPHA:652
Pituitary Adenoma 1, Multiple Types
Hypertension, Cardiomyopathy OMIM:102200
Ppoma
Increased circulating prolactin concentration, Parathyroid adenoma, Increased circulating cortiso... ORPHA:97278
Polycythemia Vera
Pulmonary embolism, Intermittent claudication, Angina pectoris, Hypertension, Epistaxis, Gastroin... ORPHA:729
Familial Pseudohyperkalemia
Hypertension ORPHA:90044
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertension ORPHA:363400
C3 Glomerulopathy
Hypertension ORPHA:329918
Hemorrhagic Fever-Renal Syndrome
Tubulointerstitial nephritis, Hyperhidrosis, Anuria, Decreased body weight, Acute tubulointerstit... ORPHA:340
Grfoma
Increased circulating prolactin concentration, Neoplasm of the thymus, Parathyroid adenoma, Incre... ORPHA:97261
Lipodystrophy, Familial Partial, Type 5
Hypertension OMIM:615238
Juvenile Paget Disease
Hypertension ORPHA:2801
Paragangliomas 3
Hypertension associated with pheochromocytoma, Palpitations, Tachycardia OMIM:605373
Cryoglobulinemia, Familial Mixed
Hypertension OMIM:123550
Cutis Marmorata Telangiectatica Congenita
Telangiectasia, Hypertension OMIM:219250
Ochoa Syndrome
Hypertension ORPHA:2704
Nephroblastoma
Hypertension ORPHA:654
Apparent Mineralocorticoid Excess
Hypertension OMIM:218030
Extracranial Carotid Artery Aneurysm
Cerebral ischemia, Vasculitis, Hypertension, Subarachnoid hemorrhage, Arteritis ORPHA:494424
Pseudohypoaldosteronism, Type Iic
Hypertension OMIM:614492
Lysinuric Protein Intolerance
Tubulointerstitial nephritis, Hyperlysinuria, Decreased response to growth hormone stimulation te... ORPHA:470
Heme Oxygenase 1 Deficiency
Epistaxis, Hypertension, Diffuse alveolar hemorrhage OMIM:614034
Stiff Skin Syndrome
Hypertension ORPHA:2833
Nephronophthisis 2
Pulmonary insufficiency, Hypertension OMIM:602088
Isolated Ectopia Lentis
Hypertension ORPHA:1885
Paroxysmal Hemicrania
Hypertension ORPHA:157835
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Heart murmur, Hypertension, Abnormal left ventricular function, Left anterior fascicular block, A... ORPHA:437572
Gaucher Disease, Type I
Pulmonary arterial hypertension, Hypertension, Epistaxis, Mitral regurgitation, Aortic valve sten... OMIM:230800
Fanconi Renotubular Syndrome 5
Hypertension OMIM:618913
Pheochromocytoma
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Episodic hyperten... OMIM:171300
Tetanus
Tachycardia, Bradycardia, Hypertension ORPHA:3299
Primary Lipodystrophy
Hypertension, Congestive heart failure, Angina pectoris, Cardiomyopathy ORPHA:90970
Fabry Disease
Transient ischemic attack, Congestive heart failure, Angina pectoris, Hypertension, Myocardial in... OMIM:301500
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Pulmonary arterial hypertension, Hypertension OMIM:613320
Glucagonoma
Increased circulating prolactin concentration, Parathyroid adenoma, Increased circulating cortiso... ORPHA:97280
Mercury Poisoning
Hypotension, Tachycardia, Hypertension ORPHA:330021
Infant Botulism
Hypotension, Cardiac arrest, Hypertension ORPHA:178478
Fibrous Dysplasia Of Bone
Precocious puberty in females, Hyperthyroidism, Increased circulating cortisol level, Thyroid car... ORPHA:249
Alkaptonuria
Decreased glomerular filtration rate, Nephrolithiasis, Elevated urinary homogentisic acid OMIM:203500
Alagille Syndrome 2
Pulmonic stenosis, Hypertension OMIM:610205
Monosomy 18P
Hypertension ORPHA:1598
Pediatric-Onset Graves Disease
Sinus tachycardia, Hypertension, Congestive heart failure, Palpitations, Atrial fibrillation ORPHA:525731
Morgagni-Stewart-Morel Syndrome
Hypertension ORPHA:77296
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Hypertension OMIM:617763
Eosinophilic Granulomatosis With Polyangiitis
Transient ischemic attack, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, M... ORPHA:183
Lipodystrophy, Familial Partial, Type 3
Hypertension OMIM:604367
Arterial Calcification, Generalized, Of Infancy, 1
Hypertension, Myocardial infarction, Congestive heart failure, Dilated cardiomyopathy OMIM:208000
Paragangliomas 1
Hypertension associated with pheochromocytoma, Palpitations, Tachycardia OMIM:168000
Renal Hypodysplasia/Aplasia 1
Hypertension OMIM:191830
Aortic Arch Interruption
Systolic heart murmur, Left ventricular outflow tract obstruction, Right bundle branch block, Blo... ORPHA:2299
Porphyria
Hypertension ORPHA:738
Pparg-Related Familial Partial Lipodystrophy
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure ORPHA:79083
Pseudo-Torch Syndrome 3
Hypertension, Cerebral hemorrhage OMIM:618886
Buschke-Ollendorff Syndrome
Hypertension ORPHA:1306
Stiff-Person Syndrome
Tachycardia, Hypertension OMIM:184850
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Telangiectasia, Punctate vasculitis skin lesions, Raynaud phenomenon, Hypertension, Retinal neova... ORPHA:247691
Cirrhosis, Familial
Pulmonary arterial hypertension, Hypertension OMIM:215600
Schimke Immuno-Osseous Dysplasia
Pulmonary arterial hypertension, Ischemic stroke, Cerebral ischemia, Transient ischemic attack, C... ORPHA:1830
Frasier Syndrome
Hypertension ORPHA:347
Abdominal Obesity-Metabolic Syndrome 3
Myocardial infarction, Hypertension OMIM:615812
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:276621
Congenital Hypothyroidism
Hypotension, Hypertension, Arrhythmia ORPHA:442
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hypertension OMIM:612924
Pseudoxanthoma Elasticum
Sudden cardiac death, Retinal hemorrhage, Restrictive cardiomyopathy, Angina pectoris, Hypertensi... ORPHA:758
Arteriosclerosis, Severe Juvenile
Myocardial infarction, Hypertension 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
Cocaine Intoxication
Hypotension, Ischemic stroke, Hypovolemia, Cerebral hemorrhage, Ventricular arrhythmia, Supravent... ORPHA:90068
Coach Syndrome 1
Portal hypertension, Hypertension OMIM:216360
Simple Cryoglobulinemia
Raynaud phenomenon, Congestive heart failure, Hypertension, Pericarditis, Myocardial infarction, ... ORPHA:91139
Serotonin Syndrome
Hypotension, Tachycardia, Hypertension ORPHA:43116
Adenine Phosphoribosyltransferase Deficiency
Hypertension, Atrial fibrillation ORPHA:976
Methylcobalamin Deficiency Type Cble
Hypertension ORPHA:2169
Joubert Syndrome 14
Hypertension, Intracranial hemorrhage OMIM:614424
Alport Syndrome 2, Autosomal Recessive
Hypertension OMIM:203780
Schimke Immunoosseous Dysplasia
Transient ischemic attack, Hypertension, Cerebral ischemia, Pulmonary arterial hypertension OMIM:242900
Ethylene Glycol Poisoning
Hypotension, Hypertension, Congestive heart failure, Shock, Prolonged QT interval, Tachycardia, A... ORPHA:31826
Aicardi-Goutieres Syndrome 9
Pericarditis, Hypertension, Portal hypertension, Increased blood pressure OMIM:619487
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hypertension OMIM:612925
Nephronophthisis 1
Hypertension OMIM:256100
Werner Syndrome
Hypertension, Myocardial infarction, Congestive heart failure, Telangiectasia of the skin ORPHA:902
Bardet-Biedl Syndrome
Hypertension ORPHA:110
Cushing Disease
Pituitary corticotropic cell adenoma, Increased circulating cortisol level, Increased circulating... ORPHA:96253
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypertension OMIM:613095
Diffuse Cutaneous Systemic Sclerosis
Pulmonary arterial hypertension, Hypertensive crisis, Congestive heart failure, Telangiectasia of... ORPHA:220393
Tubulointerstitial Nephritis And Uveitis Syndrome
Tubulointerstitial nephritis, Aminoaciduria, Renal Fanconi syndrome, Weight loss, Beta 2-microglo... ORPHA:91500
Porphyria, Acute Intermittent
Tachycardia, Hypertension OMIM:176000
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Renal tubular atrophy, Nephrotic syndrome, Decreased glomerular filtration rate, Proteinuria, Ren... OMIM:614748
Overlap Myositis
Pulmonary arterial hypertension, Raynaud phenomenon, Hypertension ORPHA:206572
Alstrom Syndrome
Hypertension, Congestive heart failure, Dilated cardiomyopathy OMIM:203800
Birk-Landau-Perez Syndrome
Hypertension OMIM:617595
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Hypertension OMIM:619758
Arterial Tortuosity Syndrome
Cardiac arrest, Congestive heart failure, Hypertension, Dilated cardiomyopathy, Myocardial infarc... ORPHA:3342
Acute Interstitial Pneumonia
Hypertension ORPHA:79126
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Hypertension, Atrioventricular block ORPHA:371428
Carney Triad
Tachycardia, Hypertension, Gastrointestinal hemorrhage, Arrhythmia ORPHA:139411
Beta-Ketothiolase Deficiency
Hypotension, Hypertension ORPHA:134
Primary Progressive Freezing Gait
Hypertension ORPHA:75567
Neuroleptic Malignant Syndrome
Hypotension, Pulmonary embolism, Hypertension, Hypertensive crisis, Arrhythmia, Bradycardia, Tach... ORPHA:94093
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Tachycardia, Hypertension OMIM:223900
Apparent Mineralocorticoid Excess
Hypertension ORPHA:320
Poliomyelitis
Hypotension, Hypovolemic shock, Hypertension ORPHA:2912
Familial Bicuspid Aortic Valve
Aortic regurgitation, Aortic valve stenosis, Hypertension, Heart murmur ORPHA:402075
Telangiectasia, Hereditary Hemorrhagic, Type 2
Facial telangiectasia, Ischemic stroke, Spontaneous, recurrent epistaxis, Fingerpad telangiectase... OMIM:600376
Arterial Tortuosity Syndrome
Ischemic stroke, Hypertension, Aortic regurgitation, Telangiectases of the cheeks, Aortic valve s... OMIM:208050
Neuroblastoma, Susceptibility To, 1
Hypertension OMIM:256700
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy, Hypertension, Arrhythmia OMIM:614052
Scorpion Envenomation
T-wave inversion, Cardiogenic shock, Prominent U wave, Bundle branch block, ST segment depression... ORPHA:466677
Cushing Syndrome Due To Ectopic Acth Secretion
Pituitary corticotropic cell adenoma, Atypical pulmonary carcinoid tumor, Adrenal hyperplasia, Pa... ORPHA:99889
Acquired Generalized Lipodystrophy
Abnormal cardiovascular system physiology, Hypertension, Cardiomyopathy ORPHA:79086
Caudal Regression Syndrome
Hypertension ORPHA:3027
Alagille Syndrome
Hypertension, Telangiectasia of the skin ORPHA:52
Hereditary Pheochromocytoma-Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:29072
Porphyria Variegata
Tachycardia, Hypertension ORPHA:79473
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hypertension ORPHA:449291
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Ischemic stroke, Hypovolemia, Transient ischemic attack, Hypertension, Aortic regurgitation, Abno... ORPHA:91387
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hematemesis, Portal hypertension, Hypertension OMIM:263200
Spondyloenchondrodysplasia
Raynaud phenomenon, Hypertension, Vasculitis ORPHA:1855
Lead Poisoning
Hypertension ORPHA:330015
Paternal Uniparental Disomy Of Chromosome 1
Hypertension ORPHA:251004
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Elevated serum 11-deoxycortisol, Decreased circulating progesterone, Elevated circulating 17-hydr... OMIM:201750
Fabry Disease
Mucosal telangiectasiae, Transient ischemic attack, Bundle branch block, Telangiectasia of the sk... ORPHA:324
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hypertension ORPHA:1555
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Bradycardia, Hypertension, Tachycardia OMIM:614653
Familial Dysautonomia
Orthostatic hypotension, Tachycardia, Hypertension ORPHA:1764
Crimean-Congo Hemorrhagic Fever
Hypotension, Pulmonary arterial hypertension, Retinal hemorrhage, Myocarditis, Hemothorax, Hemope... ORPHA:99827
Aorta Coarctation
Pulmonary arterial hypertension, Hypertension, Congestive heart failure ORPHA:1457
Livedoid Vasculopathy
Hypertension, Ischemic stroke, Telangiectasia of the skin ORPHA:542643
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertension, Intracranial hemorrhage, Congestive heart failure, Mitral regurgitation, Aortic val... ORPHA:363618
Pituitary Adenoma 4, Acth-Secreting
Hypertension OMIM:219090
Renal Hypoplasia
Hypertension ORPHA:93101
Nestor-Guillermo Progeria Syndrome
Pulmonary arterial hypertension, Right bundle branch block, Sinus tachycardia, Hypertension, Mitr... OMIM:614008
Wagro Syndrome
Hypertension OMIM:612469
Autosomal Dominant Dopa-Responsive Dystonia
Hypertension ORPHA:98808
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hypertension OMIM:616914
Low Phospholipid-Associated Cholelithiasis
Hypertension ORPHA:69663
Igg4-Related Retroperitoneal Fibrosis
Large vessel vasculitis, Renovascular hypertension, Hypertension, Budd-Chiari syndrome ORPHA:49041
Hurler Syndrome
Hypertension, Angina pectoris, Cardiomyopathy ORPHA:93473
Multisystemic Smooth Muscle Dysfunction Syndrome
Pulmonary arterial hypertension, Hypertension OMIM:613834
Classic Homocystinuria
Pulmonary embolism, Cerebral ischemia, Hypertension, Intracranial hemorrhage, Gastrointestinal he... ORPHA:394
Paragangliomas 4
Hypertension associated with pheochromocytoma, Palpitations, Tachycardia OMIM:115310
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Hypertension, Shortened PR interval OMIM:614947
Nephronophthisis-Like Nephropathy 1
Hypertension OMIM:613159
Seckel Syndrome 10
Hypertension, Congestive heart failure OMIM:617253
Apert Syndrome
Hypertension ORPHA:87
Gaisböck Syndrome
Hypovolemia, Hypertension, Angina pectoris, Myocardial infarction, Elevated diastolic blood pressure ORPHA:90041
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hypertension OMIM:235400
Alexander Disease
Sudden cardiac death, Hypertension, Hypotension ORPHA:58
Von Hippel-Lindau Disease
Hypertension, Myocardial infarction, Abnormal left ventricular function, Palpitations, Arrhythmia... ORPHA:892
Cockayne Syndrome Type 1
Hypertension ORPHA:90321
Fragile X-Associated Tremor/Ataxia Syndrome
Hypotension, Hypertension ORPHA:93256
Xfe Progeroid Syndrome
Hypertension OMIM:610965
Galloway-Mowat Syndrome 3
Hypertension OMIM:617729
Papillorenal Syndrome
Hypertension OMIM:120330
Granulomatosis With Polyangiitis
Cerebral ischemia, Angina pectoris, Hypertension, Pericarditis, Epistaxis, Gastrointestinal hemor... ORPHA:900
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Hypertension, Intracranial hemorrhage ORPHA:90795
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Raynaud phenomenon, Dilated cardiomyopathy, Hypertension, Portal hypertension, Vasculitis OMIM:615688
Beare-Stevenson Cutis Gyrata Syndrome
Hypertension OMIM:123790
Renal Agenesis
Hypertension ORPHA:411709
Posterior Urethral Valve
Hypertension ORPHA:93110
Hallermann-Streiff Syndrome
Pulmonary arterial hypertension, Telangiectasia, Hypertension OMIM:234100
Sickle Cell Disease
Hypertension OMIM:603903
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Pulmonary embolism, Hypertension ORPHA:567546
Alport Syndrome 1, X-Linked
Hypertension OMIM:301050
Acute Intermittent Porphyria
Tachycardia, Hypertension ORPHA:79276
Alport Syndrome 3, Autosomal Dominant
Hypertension OMIM:104200
Neuroendocrine Neoplasm Of Appendix
Primary hypercortisolism, Increased serum serotonin, Adrenocorticotropic hormone excess, Intestin... ORPHA:100079
Marshall-Smith Syndrome
Pulmonary arterial hypertension, Premature ventricular contraction, Hypertension OMIM:602535
Tsh-Secreting Pituitary Adenoma
Hypotension, Ventricular arrhythmia, Supraventricular arrhythmia, Congestive heart failure, Hyper... ORPHA:91347
Prader-Willi Syndrome
Hypertension ORPHA:739
Carey-Fineman-Ziter Syndrome
Hypertensive crisis ORPHA:1358
Alkaptonuria
Myocardial infarction, Hypertension ORPHA:56
Aicardi-Goutieres Syndrome 7
Hypertension, Hypertrophic cardiomyopathy, Hematemesis, Hematochezia, Vasculitis OMIM:615846
Senior-Boichis Syndrome
Portal hypertension, Hypertension ORPHA:84081
Carney Complex
Increased circulating prolactin concentration, Precocious puberty, Increased circulating cortisol... ORPHA:1359
Bardet-Biedl Syndrome 1
Hypertension OMIM:209900
Alport Syndrome
Hypertension ORPHA:63
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypertension ORPHA:90793
Hunter-Macdonald Syndrome
Aortic regurgitation, Mitral regurgitation, Hypertension OMIM:611962
Homozygous Familial Hypercholesterolemia
Sudden cardiac death, Heart murmur, Angina pectoris, Hypertension, Supravalvular aortic stenosis,... ORPHA:391665
Postinfectious Vasculitis
Ischemic stroke, Raynaud phenomenon, Cerebral vasculitis, Vasculitis in the skin, Hypertension, C... ORPHA:48435
Familial Osteodysplasia, Anderson Type
Hypertension ORPHA:2769
Au-Kline Syndrome
Hypertension OMIM:616580
Von Hippel-Lindau Syndrome
Hypertension OMIM:193300
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Myocardial infarction, Hypertension ORPHA:90038
Blau Syndrome
Pericarditis, Hypertension OMIM:186580
Pseudohypoparathyroidism Type 1A
Prolonged QT interval, Hypertension ORPHA:79443
Hutchinson-Gilford Progeria Syndrome
Pulmonary arterial hypertension, Left ventricular diastolic dysfunction, Transient ischemic attac... ORPHA:740
Myhre Syndrome
Hypertension ORPHA:2588
Denys-Drash Syndrome
Hypertension OMIM:194080
Infection-Related Hemolytic Uremic Syndrome
Hypertensive crisis, Myocarditis, Hypertension ORPHA:544482
Immunodeficiency 87 And Autoimmunity
Pulmonary arterial hypertension, Dilated cardiomyopathy, Third degree atrioventricular block, Hyp... OMIM:619573
Acute Transverse Myelitis
Orthostatic hypotension, Subarachnoid hemorrhage, Hypertension ORPHA:139417
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypertension ORPHA:95699
Scalp-Ear-Nipple Syndrome
Hypertension, Supraventricular tachycardia, Congestive heart failure OMIM:181270
Lipodystrophy, Familial Partial, Type 2
Hypertension OMIM:151660
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hypertension OMIM:266920
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Epistaxis, Hypertension, Pulmonary venous hypertension ORPHA:79259
Cockayne Syndrome B
Hypertension, Arrhythmia OMIM:133540
Cockayne Syndrome A
Hypertension, Arrhythmia OMIM:216400
Orofaciodigital Syndrome I
Hypertension OMIM:311200
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hypertension OMIM:617913
Mucopolysaccharidosis Type 2, Severe Form
Cardiomyopathy, Hypertension, Heart murmur, Arrhythmia ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Cardiomyopathy, Hypertension, Heart murmur, Arrhythmia ORPHA:217093
Xq21 Microdeletion Syndrome
Hypertension ORPHA:1435
Arima Syndrome
Hypertension OMIM:243910
Orofaciodigital Syndrome Type 1
Hypertension ORPHA:2750
Mucopolysaccharidosis Type 2
Cardiomyopathy, Hypertension, Arrhythmia ORPHA:580
Scalp-Ear-Nipple Syndrome
Hypertension ORPHA:2036
Myhre Syndrome
Aortic valve stenosis, Hypertension OMIM:139210
Adams-Oliver Syndrome 1
Pulmonary arterial hypertension, Aortic valve stenosis, Pulmonic stenosis, Hypertension OMIM:100300
Cranioectodermal Dysplasia 2
Hypertension OMIM:613610
Smith-Lemli-Opitz Syndrome
Hypertrophic cardiomyopathy, Hypertension, Ventricular fibrillation OMIM:270400
Cockayne Syndrome
Retinal hemorrhage, Hypertension ORPHA:191
Hardikar Syndrome
Hematemesis, Portal hypertension, Hypertension OMIM:301068
Multiple Endocrine Neoplasia Type 2
Hypertensive crisis, Hypertension associated with pheochromocytoma, Palpitations ORPHA:653
Autosomal Recessive Polycystic Kidney Disease
Portal hypertension, Hypertension, Gastrointestinal hemorrhage ORPHA:731
Pierson Syndrome
Retinal hemorrhage, Hypertension OMIM:609049
Yunis-Varon Syndrome
Pulmonary arterial hypertension, Hypertension, Renovascular hypertension, Cardiomyopathy ORPHA:3472
Acromegaly
Hypertrophic cardiomyopathy, Mitral regurgitation, Hypertension ORPHA:963
Somatomammotropinoma
Hypertrophic cardiomyopathy, Mitral regurgitation, Hypertension ORPHA:314769
Williams Syndrome
Sudden cardiac death, Cerebral ischemia, Hypertension, Congestive heart failure, Supravalvular ao... ORPHA:904
Atypical Werner Syndrome
Aortic valve stenosis, Hypertension, Congestive heart failure, Telangiectasia of the skin ORPHA:79474
Tuberous Sclerosis Complex
Hypertension, Internal hemorrhage ORPHA:805
Neurofibromatosis, Type I
Hypertension OMIM:162200
Lipodystrophy, Familial Partial, Type 7
Pulmonary arterial hypertension, Orthostatic hypotension, Hypertension OMIM:606721
Turner Syndrome Due To Structural X Chromosome Anomalies
Myocardial infarction, Prolonged QT interval, Hypertension ORPHA:99413
Turner Syndrome
Myocardial infarction, Prolonged QT interval, Hypertension ORPHA:881
Mosaic Monosomy X
Myocardial infarction, Prolonged QT interval, Hypertension ORPHA:99228
Monosomy X
Myocardial infarction, Prolonged QT interval, Hypertension ORPHA:99226
17Q11 Microdeletion Syndrome
Pulmonary arterial hypertension, Hypertension, Hypertrophic cardiomyopathy, Renovascular hyperten... ORPHA:97685
22Q11.2 Deletion Syndrome
Hypertensive crisis, Corneal neovascularization, Gastrointestinal hemorrhage ORPHA:567
Renal Dysplasia
Hypertension ORPHA:93108
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypertrophic cardiomyopathy, Mitral regurgitation, Hypertension OMIM:220111
Blau Syndrome
Large vessel vasculitis, Hypertension, Pericarditis, Pulmonary arterial hypertension ORPHA:90340
Paroxysmal Nocturnal Hemoglobinuria
Pulmonary embolism, Myocardial infarction, Hypertension, Budd-Chiari syndrome ORPHA:447
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hypertension OMIM:210710
Neurofibromatosis Type 1
Hypertension ORPHA:636
Keutel Syndrome
Pulmonic stenosis, Hypertension OMIM:245150
Congenital Disorder Of Glycosylation, Type Iim
Hypertension OMIM:300896
Williams-Beuren Syndrome
Hypertension, Supravalvular aortic stenosis, Mitral regurgitation, Portal hypertension, Pulmonic ... OMIM:194050
Generalized Arterial Calcification Of Infancy
Pulmonary arterial hypertension, Retinal hemorrhage, Transient ischemic attack, Hypertension, Lef... ORPHA:51608
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Hypertension, Corneal neovascularization OMIM:308205
Vascular Ehlers-Danlos Syndrome
Transient ischemic attack, Hypertension, Internal hemorrhage, Renovascular hypertension, Telangie... ORPHA:286
Alström Syndrome
Pulmonary arterial hypertension, Hypertension, Congestive heart failure, Dilated cardiomyopathy, ... 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.

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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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