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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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 mean arterial pressure, Elevated diastolic blood pressure OMIM:145500
Hyperaldosteronism, Familial, Type Ii
Hyperaldosteronism, Hypokalemia OMIM:605635
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Renal salt wasting, Hyperaldosteronism, Adrenocorticotropic hormone excess, Adrenal insufficiency OMIM:613743
Hyperaldosteronism, Familial, Type Iv
Elevated aldosterone:renin ratio, Hyperaldosteronism OMIM:617027
Hyperaldosteronism, Familial, Type I
Decreased circulating renin level, Adrenal hyperplasia, Adrenogenital syndrome, Hyperaldosteronis... OMIM:103900
Hypokalemic Tubulopathy And Deafness
Renal salt wasting, Hyperaldosteronism, Increased circulating renin level OMIM:619406
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperkalemia, Hyponatremia, Hyperaldosteronism, Increased circulating renin level OMIM:620126
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperkalemia, Hyponatremia, Hyperaldosteronism, Increased circulating renin level OMIM:620125
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Renal salt wasting, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, ... OMIM:264350
Hyperaldosteronism, Familial, Type Iii
Polyuria, Hypokalemia, Hypercalciuria, Decreased circulating renin level, Adrenal hyperplasia, Hy... OMIM:613677
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Increased circulatin... OMIM:177735
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Hypokalemia... ORPHA:1501
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Renal salt wasting, Polyuria, Decreased glomerular filtration rate, Hyperchloriduria, Hypokalemia... OMIM:613090
Bartter Syndrome, Type 3
Renal salt wasting, Polyuria, Hyperchloriduria, Hypokalemia, Hypocalciuria, Renal potassium wasti... OMIM:607364
East Syndrome
Renal salt wasting, Hypokalemia, Enuresis, Increased circulating renin level, Hypomagnesemia, Hyp... ORPHA:199343
Familial Hyperaldosteronism Type Ii
Hypokalemia, Abnormal circulating renin, Secretory adrenocortical adenoma, Adrenal hyperplasia, G... ORPHA:404
Familial Hyperaldosteronism Type I
Dexamethasone-suppressible primary hyperaldosteronism, Hypokalemia, Abnormal circulating renin, S... ORPHA:403
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Decreased glomerular filtration rate, Nephropathy, Renal tubular atrophy, Nephritis, Renal insuff... 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
Hypokalemia, Neoplasm of the adrenal gland, Decreased circulating renin level, Glucocortocoid-ins... ORPHA:231625
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyperactive renin-angiotensin system, Hypochloremia, Increased circulating renin lev... OMIM:214700
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Renal salt wasting, Polyuria, Decreased glomerular filtration rate, Hyperchloriduria, Hypokalemia... OMIM:602522
Supravalvular Aortic Stenosis
Angina pectoris, Hypertension, Systolic heart murmur, Arrhythmia, Syncope, Supravalvular aortic s... ORPHA:3193
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Increased body weight... ORPHA:189427
Familial Hyperaldosteronism Type Iii
Hypokalemia, Hypercalciuria, Abnormal circulating renin, Glucocortocoid-insensitive primary hyper... ORPHA:251274
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Renal salt wasting, Polyuria, Hypokalemia, Hypocalciuria, Renal potassium wasting, Enuresis, Incr... OMIM:612780
Primary Unilateral Adrenal Hyperplasia
Hypokalemia, Decreased circulating renin level, Glucocortocoid-insensitive primary hyperaldostero... ORPHA:231580
Coronary Artery Disease, Autosomal Dominant, 1
Hypertension, Myocardial infarction OMIM:608320
Polycystic Kidney Disease 7
Hypertension OMIM:620056
Ectopic Aldosterone-Producing Tumor
Renal cortical adenoma, Decreased circulating renin level, Hypokalemia, Glucocortocoid-insensitiv... ORPHA:231632
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Nephropathy, Decreased glomerular filtration rate OMIM:242530
Cardiomyopathy, Familial Hypertrophic, 30, Atrial
Atrial fibrillation, Atrial flutter, Hypertension, Reduced left ventricular ejection fraction OMIM:620734
Preeclampsia/Eclampsia 1
Hypertension OMIM:189800
Bartter Syndrome, Type 1, Antenatal
Renal salt wasting, Polyuria, Hyperchloriduria, Hypokalemia, Hyperprostaglandinuria, Renal potass... OMIM:601678
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Increas... ORPHA:556037
Bartter Syndrome Type 4
Renal salt wasting, Acute kidney injury, Hypokalemia, Hyperprostaglandinuria, Hypercalciuria, Imp... ORPHA:89938
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Increased circulating renin ... ORPHA:171876
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Hypertension, Prolonged PR interval OMIM:615378
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperprostaglandinuria, Hypercalciuria, Hypocalcemia, Abnormal renal tubular resorption, Hypermag... ORPHA:73224
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia, Abnormal circulating renin, Nephrolithiasis, Adrenal hyperplasia, Hyperaldosteronism ORPHA:369929
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
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Lcat Deficiency
Hypertriglyceridemia, Acute kidney injury, Decreased glomerular filtration rate, Proteinuria, Sta... ORPHA:650
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Renal salt wasting, Hypospadias, Adrenal hyperplasia, Adrenogenital syndrome, Elevated circulatin... OMIM:201910
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Renal insufficiency, Decreased glome... OMIM:618061
Spastic Paraplegia-Nephritis-Deafness Syndrome
Hypertension ORPHA:2820
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Increas... ORPHA:556030
Nail-Patella-Like Renal Disease
Hypertension ORPHA:2613
Multiple Endocrine Neoplasia, Type Iia
Elevated urinary vanillylmandelic acid, Pheochromocytoma, Thyroid C cell hyperplasia, Elevated ur... OMIM:171400
Hereditary Renal Hypouricemia
Abnormal renal tubule morphology, Acute kidney injury, Hematuria, Decreased glomerular filtration... ORPHA:94088
Trimethylaminuria
Tachycardia, Hypertension OMIM:602079
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, Decreased circulating renin level, Nephrolithiasis, Hypokalemia OMIM:615474
Coronary Artery Disease, Autosomal Dominant 2
Hypertension, Sudden cardiac death, Myocardial infarction OMIM:610947
Bartter Syndrome, Type 2, Antenatal
Renal salt wasting, Polyuria, Hyperchloriduria, Hypokalemia, Hyperprostaglandinuria, Renal potass... OMIM:241200
Focal Segmental Glomerulosclerosis 5
Hypertension OMIM:613237
Fanconi Renotubular Syndrome 2
Elevated circulating parathyroid hormone level, Decreased glomerular filtration rate, Renal phosp... OMIM:613388
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hypertension OMIM:607832
Acth-Independent Macronodular Adrenal Hyperplasia 2
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Increased body weight... OMIM:615954
Iga Nephropathy, Susceptibility To, 3
Hypertension OMIM:616818
Cystic Hamartoma Of Lung And Kidney
Hypertension ORPHA:2111
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia, Pulmonary embolism ORPHA:1345
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Abnormal response to glucagon stimulation test, Focal pancr... ORPHA:79644
Thymic Neuroendocrine Tumor
Neoplasm of the endocrine system, Pancreatic islet cell adenoma, Neoplasm of the thymus, Primary ... ORPHA:97289
Orthostatic Hypotension 2
Decreased glomerular filtration rate OMIM:618182
Focal Segmental Glomerulosclerosis 2
Hypertension OMIM:603965
Iga Nephropathy, Susceptibility To, 2
Hypertension OMIM:613944
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Glomerular sclerosis, Hypercalciuria, Tubulointerstitial fibros... OMIM:310468
Renal Failure, Progressive, With Hypertension
Hypertension OMIM:161900
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Renal salt wasting, Hyperkalemia, Abnormal circulating renin, Congenital hypothyroidism, Precocio... OMIM:614736
Gitelman Syndrome
Delayed puberty, Urinary incontinence, Renal potassium wasting, Hyperhidrosis, Nocturia, Parathyr... ORPHA:358
Primary Hyperoxaluria Type 1
Hematuria, Decreased glomerular filtration rate, Recurrent urinary tract infections, Hyperoxaluri... ORPHA:93598
Andersen-Tawil Syndrome
Renal hypoplasia, Hyperaldosteronism, Renal tubular dysfunction ORPHA:37553
Hypocalcemia, Autosomal Dominant 1
Decreased glomerular filtration rate, Hypercalciuria, Nephrolithiasis, Increased circulating reni... OMIM:601198
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Hypertension OMIM:605115
Glomerulopathy With Fibronectin Deposits 2
Hypertension OMIM:601894
Moyamoya Disease With Early-Onset Achalasia
Hypertension, Raynaud phenomenon ORPHA:401945
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... ORPHA:730
Liddle Syndrome
Hypertension, Cerebral ischemia, Arrhythmia ORPHA:526
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased serum testosterone level, Decreased circulating ACTH concentration, Pigmented micronodu... OMIM:610489
Morbid Obesity And Spermatogenic Failure
Congestive heart failure, Hypertension, Myocardial infarction OMIM:615703
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal salt wasting, Decreased glomerular filtration rate, Glomerular sclerosis, Tubulointerstitia... OMIM:174000
Glomerulopathy With Fibronectin Deposits 1
Hypertension OMIM:137950
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Hypertension, Telangiectases producing 'marbled' skin OMIM:206570
Renal Hypoplasia, Bilateral
Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microglobulinuria, Renal cyst... ORPHA:97362
Oculocerebrorenal Syndrome Of Lowe
Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Nephroc... ORPHA:534
Familial Cervical Artery Dissection
Hypertension, Transient ischemic attack, Cerebral ischemia, Recurrent cerebral hemorrhage, Subara... ORPHA:36382
Oligomeganephronia
Abnormal nephron morphology, Decreased glomerular filtration rate, Unilateral renal agenesis, Abn... ORPHA:2260
Lessel-Kubisch Syndrome
Hypertension OMIM:618681
Polycystic Kidney Disease 5
Hypertension OMIM:617610
Grange Syndrome
Hypertension, Aortic regurgitation ORPHA:79094
Adrenal Hypoplasia, Congenital
Renal salt wasting, Delayed puberty, Adrenal hypoplasia, Precocious puberty, Hyponatremia, Absenc... OMIM:300200
Glucocorticoid Deficiency 5
Decreased circulating cortisol level, Abnormal response to ACTH stimulation test OMIM:617825
Iga Nephropathy, Susceptibility To, 1
Hypertension OMIM:161950
Arterial Calcification, Generalized, Of Infancy, 2
Congestive heart failure, Reduced left ventricular ejection fraction, Sinus tachycardia, Hyperten... OMIM:614473
Glucocorticoid Deficiency 3
Increased circulating ACTH level, Abnormal circulating renin, Decreased circulating cortisol leve... OMIM:609197
Pseudohypoaldosteronism, Type Iia
Hypertension OMIM:145260
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Wolff-Parkinson-White syndrome, Hypertension, Arrhythmia, Abnormal left... OMIM:540000
Leprechaunism
Enlarged kidney, Hyperinsulinemia, Long penis, Hypercalciuria, Decreased body weight, Increased c... ORPHA:508
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pancreatitis, Decreased circulating ACTH concentration, Pigmented micronodular adrenocortical dis... OMIM:610475
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Adre... ORPHA:3453
Glucocorticoid Resistance, Generalized
Increased circulating cortisol level, Increased circulating androstenedione concentration, Increa... OMIM:615962
Moyamoya Disease 6 With Or Without Achalasia
Ischemic stroke, Hypertension, Raynaud phenomenon OMIM:615750
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Cardiomyopathy, Arrhythmia ORPHA:3222
Coproporphyria, Hereditary
Tachycardia, Hypertension OMIM:121300
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Palpitations, Low-output congestive heart failure, Mildly red... ORPHA:66529
Corticosteroid-Binding Globulin Deficiency
Decreased urinary potassium, Reduced circulating cortisol-binding globulin concentration, Hypokal... OMIM:611489
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertension ORPHA:71529
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight, Adrenal hyperplasia, Diabetes mellitus, Primary hypercortisolism, Increase... OMIM:615830
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage ORPHA:84090
Acth-Independent Macronodular Adrenal Hyperplasia
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Adrenal hyperplasia, ... OMIM:219080
Hereditary Amyloidosis With Primary Renal Involvement
Renal interstitial amyloid deposits, Decreased glomerular filtration rate, Tubulointerstitial fib... ORPHA:85450
Congenital Isolated Acth Deficiency
Hyponatremia, Adrenal hypoplasia, Decreased circulating cortisol level, Adrenocorticotropin defic... ORPHA:199296
Primary Membranoproliferative Glomerulonephritis
Hypertension, Myocardial infarction ORPHA:54370
Secondary Intestinal Lymphangiectasia
Decreased circulating prealbumin concentration, Secondary hyperaldosteronism, Reduced circulating... ORPHA:90363
Multiple Endocrine Neoplasia Type 4
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... ORPHA:276152
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hypertension OMIM:600666
Multiple Endocrine Neoplasia, Type I
Glucagonoma, Adrenocortical adenoma, Pancreatic islet cell adenoma, Pituitary prolactin cell aden... OMIM:131100
Mccune-Albright Syndrome
Precocious puberty, Pituitary adenoma, Hyperthyroidism, Elevated circulating growth hormone conce... OMIM:174800
Sneddon Syndrome
Hypertension, Intracranial hemorrhage ORPHA:820
Peripartum Cardiomyopathy
Myocarditis, Congestive heart failure, Left ventricular systolic dysfunction, Left bundle branch ... ORPHA:563
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Decreased growth hormone responses to grow... OMIM:609734
Pauci-Immune Glomerulonephritis
Acute kidney injury, Pancreatitis, Decreased glomerular filtration rate, Glomerular sclerosis, Ne... ORPHA:93126
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Precocious puberty in males, Elevated serum ... OMIM:202010
Familial Partial Lipodystrophy, Köbberling Type
Hypertension ORPHA:79084
Senior-Loken Syndrome
Hypertension ORPHA:3156
Erythrocytosis, Familial, 1
Hypertension, Cerebral hemorrhage, Myocardial infarction OMIM:133100
Bangstad Syndrome
Hyperinsulinemia, Hypothyroidism, Primary gonadal insufficiency, Abnormality of the parathyroid g... ORPHA:1227
Nelson Syndrome
Hypokalemia, Diabetes insipidus, Secondary hypercortisolism, Anterior hypopituitarism, Adrenocort... ORPHA:199244
Dietary Iron Overload Disease
Abnormal adrenal morphology, Abnormal thyroid morphology, Elevated hepatic iron concentration, Di... ORPHA:139507
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Decreased glomerular filtration rate, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Fa... ORPHA:488627
Potocki-Shaffer Syndrome
Hypertension ORPHA:52022
Denys-Drash Syndrome
Hypertension ORPHA:220
Takayasu Arteritis
Vasculitis, Hypertension, Cerebral ischemia, Pulmonary arterial hypertension, Hypertensive crisis... ORPHA:3287
Amyloidosis, Familial Visceral
Hypertension OMIM:105200
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Positive regitine blocking ... OMIM:171420
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Congestive heart failure, Dilated cardiomyopathy, Hypertension, Hypertrophic cardiomyopathy ORPHA:1349
Pseudohypoaldosteronism Type 2
Hypertension ORPHA:757
Generalized Glucocorticoid Resistance Syndrome
Abnormal circulating testosterone concentration, Hypokalemia, Adrenal hyperplasia, Precocious pub... ORPHA:786
Liddle Syndrome 2
Hypertension OMIM:618114
Liddle Syndrome 3
Hypertension OMIM:618126
Pseudohypoaldosteronism, Type Iib
Hypertension OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hypertension OMIM:614495
Distal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Hypocitraturia, Decreased glomerular filtration rate, Renal pot... ORPHA:18
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension OMIM:616069
Focal Segmental Glomerulosclerosis 1
Hypertension OMIM:603278
Methanol Poisoning
Hypertension, Permanent atrial fibrillation, Inflammatory arteriopathy, Cerebral hemorrhage, Intr... ORPHA:31825
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hypertension, Mitral regurgitation OMIM:173900
Lipodystrophy, Familial Partial, Type 4
Hypertension OMIM:613877
Mccune-Albright Syndrome
Pancreatitis, Increased serum testosterone level, Renal phosphate wasting, Precocious puberty, Hy... ORPHA:562
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Hypertension, Pulmonary arterial hypertension, Right ventricular ... OMIM:178600
Plin1-Related Familial Partial Lipodystrophy
Hypertension ORPHA:280356
Glycogen Storage Disease Ia
Delayed puberty, Xanthelasma, Enlarged kidney, Pancreatitis, Decreased glomerular filtration rate... OMIM:232200
Sneddon Syndrome
Ischemic stroke, Hypertension, Cerebral hemorrhage OMIM:182410
Idiopathic Non-Lupus Full-House Nephropathy
Hypertension ORPHA:567544
Pseudoxanthoma Elasticum
Congestive heart failure, Gastrointestinal hemorrhage, Angina pectoris, Hypertension, Weak pulse,... OMIM:264800
Aapoaiv Amyloidosis
Atrial flutter, Left bundle branch block, Abnormal cardiac ventricular function, Left ventricular... ORPHA:439232
Zollinger-Ellison Syndrome
Glucagonoma, Elevated circulating parathyroid hormone level, Neuroendocrine neoplasm, Adrenocorti... ORPHA:913
Systemic Lupus Erythematosus 17
Raynaud phenomenon, Mitral regurgitation, Hypertensive crisis OMIM:301080
Glutaric Aciduria Iii
Hypertension OMIM:231690
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Ischemic stroke, Hypertension, Transient ischemic attack, Cerebral ischemia, Cerebral hemorrhage,... ORPHA:136
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hypertension ORPHA:1192
X-Linked Hypohidrotic Ectodermal Dysplasia
Hypertension ORPHA:181
Central Hypoventilation Syndrome, Congenital, 3
Episodic hypertension OMIM:619483
Pituitary Apoplexy
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Reduced circul... ORPHA:95613
Acquired Aneurysmal Subarachnoid Hemorrhage
Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Hypertension, Cerebral ischemi... ORPHA:90065
Polyarteritis Nodosa
Pericarditis, Hypertension, Cardiomyopathy, Raynaud phenomenon ORPHA:767
Familial Cerebral Saccular Aneurysm
Hypertension, Transient ischemic attack, Subarachnoid hemorrhage, Intracranial hemorrhage ORPHA:231160
Postorgasmic Illness Syndrome
Palpitations, Hypertension ORPHA:279947
Liddle Syndrome 1
Hypertension OMIM:177200
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Ischemic stroke, Dilated cardiomyopathy, Hypertension, Cerebral hemorrhage ORPHA:280679
Non-Functioning Paraganglioma
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Cereb... ORPHA:94080
Ganglioneuroma
Gastrointestinal hemorrhage, Hypertension ORPHA:251992
Lipodystrophy, Familial Partial, Type 1
Hypertension OMIM:608600
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Hypertension OMIM:202110
Nephronophthisis 18
Hypertension OMIM:615862
Pseudohypoaldosteronism, Type Iie
Hypertension OMIM:614496
Narcolepsy Type 1
Syncope, Hypertension ORPHA:2073
Coenzyme Q10 Deficiency, Primary, 8
Hypertension OMIM:616733
Preeclampsia
Elevated systolic blood pressure, Hypertension, Elevated diastolic blood pressure ORPHA:275555
Glycogen Storage Disease Ib
Delayed puberty, Xanthelasma, Enlarged kidney, Pancreatitis, Decreased glomerular filtration rate... OMIM:232220
Bronchial Neuroendocrine Tumor
Pulmonary carcinoid tumor, Elevated circulating growth hormone concentration, Weight loss, Increa... ORPHA:97287
Glycogen Storage Disease Ic
Delayed puberty, Xanthelasma, Hematuria, Decreased glomerular filtration rate, Chronic pancreatit... OMIM:232240
Coach Syndrome 2
Hypertension OMIM:619111
Multicentric Carpotarsal Osteolysis Syndrome
Hypertension OMIM:166300
Vipoma
Increased circulating gonadotropin level, Hypokalemia, Adrenocortical adenoma, Primary hyperparat... ORPHA:97282
Rhabdoid Tumor
Hypertension, Internal hemorrhage ORPHA:69077
Riboflavin Transporter Deficiency
Hypertension ORPHA:97229
Pituitary Adenoma 1, Multiple Types
Hypertension, Cardiomyopathy OMIM:102200
Abdominal Obesity-Metabolic Syndrome 4
Hypertension, Myocardial infarction OMIM:618620
Lipodystrophy, Familial Partial, Type 6
Hypertension OMIM:615980
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Hypertension OMIM:613870
Familial Pseudohyperkalemia
Hypertension ORPHA:90044
Multiple Endocrine Neoplasia Type 1
Adrenocortical abnormality, Pheochromocytoma, Pituitary growth hormone cell adenoma, Pituitary co... ORPHA:652
C3 Glomerulopathy
Hypertension ORPHA:329918
Somatostatinoma
Steatorrhea, Increased circulating gonadotropin level, Adrenocortical adenoma, Primary hyperparat... ORPHA:97283
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertension ORPHA:363400
Hemorrhagic Fever-Renal Syndrome
Acute kidney injury, Hematuria, Decreased glomerular filtration rate, Acute tubulointerstitial ne... ORPHA:340
Ochoa Syndrome
Hypertension ORPHA:2704
Ppoma
Increased circulating gonadotropin level, Adrenocortical adenoma, Primary hyperparathyroidism, Pi... ORPHA:97278
Cryoglobulinemia, Familial Mixed
Hypertension OMIM:123550
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:605373
Juvenile Paget Disease
Hypertension ORPHA:2801
Lipodystrophy, Familial Partial, Type 5
Hypertension OMIM:615238
Nephroblastoma
Hypertension ORPHA:654
Paroxysmal Hemicrania
Hypertension ORPHA:157835
Cutis Marmorata Telangiectatica Congenita
Hypertension, Telangiectasia OMIM:219250
Stiff Skin Syndrome
Hypertension ORPHA:2833
Lysinuric Protein Intolerance
Abnormal renal tubule morphology, Hypertriglyceridemia, Steatorrhea, Argininuria, Oroticaciduria,... ORPHA:470
Apparent Mineralocorticoid Excess
Hypertension OMIM:218030
Alopecia Universalis
Hypertension ORPHA:701
Isolated Ectopia Lentis
Hypertension ORPHA:1885
Grfoma
Increased circulating gonadotropin level, Adrenocortical adenoma, Pheochromocytoma, Neoplasm of t... ORPHA:97261
Pseudohypoaldosteronism, Type Iic
Hypertension OMIM:614492
Fanconi Renotubular Syndrome 5
Hypertension OMIM:618913
Gaucher Disease, Type I
Hypertension, Pulmonary arterial hypertension, Aortic valve stenosis, Epistaxis, Mitral regurgita... OMIM:230800
Mercury Poisoning
Tachycardia, Hypertension, Hypotension ORPHA:330021
Heme Oxygenase 1 Deficiency
Diffuse alveolar hemorrhage, Hypertension, Epistaxis OMIM:614034
Nephronophthisis 2
Pulmonary insufficiency, Hypertension OMIM:602088
Pheochromocytoma
Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Positive regitine blocking ... OMIM:171300
Tetanus
Tachycardia, Hypertension, Bradycardia ORPHA:3299
Fabry Disease
Congestive heart failure, Angina pectoris, Hypertension, Transient ischemic attack, Arrhythmia, M... OMIM:301500
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Pulmonary arterial hypertension, Second degree atrioventricular block OMIM:617021
Alagille Syndrome 2
Pulmonic stenosis, Hypertension OMIM:610205
Extracranial Carotid Artery Aneurysm
Arteritis, Vasculitis, Hypertension, Cerebral ischemia, Subarachnoid hemorrhage ORPHA:494424
Fibrous Dysplasia Of Bone
Thyroid carcinoma, Precocious puberty in females, Abnormality of the endocrine system, Hyperpitui... ORPHA:249
Alkaptonuria
Elevated urinary homogentisic acid, Decreased glomerular filtration rate, Dark urine, Nephrolithi... OMIM:203500
Infant Botulism
Hypertension, Cardiac arrest, Hypotension ORPHA:178478
Monosomy 18P
Hypertension ORPHA:1598
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Pulmonary arterial hypertension OMIM:613320
Morgagni-Stewart-Morel Syndrome
Hypertension ORPHA:77296
Stiff-Person Syndrome
Tachycardia, Hypertension OMIM:184850
Glucagonoma
Steatorrhea, Increased circulating gonadotropin level, Adrenocortical adenoma, Primary hyperparat... ORPHA:97280
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Hypertension OMIM:617763
Pediatric-Onset Graves Disease
Congestive heart failure, Atrial fibrillation, Sinus tachycardia, Hypertension, Palpitations ORPHA:525731
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Dilated cardiomyopathy, Hypertension, Cerebral hemorrhage OMIM:300845
Polycythemia Vera
Gastrointestinal hemorrhage, Angina pectoris, Hypertension, Budd-Chiari syndrome, Portal hyperten... ORPHA:729
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Congestive heart failure, Vasculitis, Hypertension, Transient ischemic attack, Hyper... ORPHA:183
Lipodystrophy, Familial Partial, Type 3
Hypertension OMIM:604367
Pheochromocytoma/Paraganglioma Syndrome 1
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:168000
Arterial Calcification, Generalized, Of Infancy, 1
Congestive heart failure, Dilated cardiomyopathy, Hypertension, Myocardial infarction OMIM:208000
Renal Hypodysplasia/Aplasia 1
Hypertension OMIM:191830
Pparg-Related Familial Partial Lipodystrophy
Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy ORPHA:79083
Aortic Arch Interruption
Absent pulse, Congestive heart failure, Blood pressure substantially higher in arms than legs, Ao... ORPHA:2299
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Hypertension, Cardiomyopathy, Punctate vasculitis skin lesions, Rayn... ORPHA:247691
Pseudo-Torch Syndrome 3
Hypertension, Cerebral hemorrhage OMIM:618886
Sporadic Pheochromocytoma/Secreting Paraganglioma
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Cereb... ORPHA:276621
Schimke Immuno-Osseous Dysplasia
Congestive heart failure, Ischemic stroke, Hypertension, Transient ischemic attack, Cerebral isch... ORPHA:1830
Cirrhosis, Familial
Hypertension, Pulmonary arterial hypertension OMIM:215600
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Hypertension, Restrictive cardiomyopathy, Retinal h... ORPHA:758
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hypertension OMIM:612924
Developmental And Epileptic Encephalopathy 111
Sinus tachycardia, Hypertension, Premature ventricular contraction OMIM:620504
Frasier Syndrome
Hypertension ORPHA:347
Serotonin Syndrome
Tachycardia, Hypertension, Hypotension ORPHA:43116
Coach Syndrome 1
Hypertension, Portal hypertension OMIM:216360
Methylcobalamin Deficiency Type Cble
Hypertension ORPHA:2169
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
Abdominal Obesity-Metabolic Syndrome 3
Hypertension, Myocardial infarction OMIM:615812
Cocaine Intoxication
Ischemic stroke, Prolonged QT interval, Supraventricular arrhythmia, Hypertension, Hypotension, H... ORPHA:90068
Adenine Phosphoribosyltransferase Deficiency
Atrial fibrillation, Hypertension ORPHA:976
Alport Syndrome 2, Autosomal Recessive
Hypertension OMIM:203780
Werner Syndrome
Congestive heart failure, Hypertension, Telangiectasia of the skin, Myocardial infarction ORPHA:902
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal tubular epithelial necrosis, Renal lymphocytic tubulitis, Renal interstitial edema, Decreas... ORPHA:91500
Schimke Immunoosseous Dysplasia
Hypertension, Transient ischemic attack, Cerebral ischemia, Pulmonary arterial hypertension OMIM:242900
Joubert Syndrome 14
Hypertension, Intracranial hemorrhage OMIM:614424
Cushing Disease
Increased circulating ACTH level, Increased body weight, Adrenal hyperplasia, Pituitary corticotr... ORPHA:96253
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Hypertension OMIM:619758
Simple Cryoglobulinemia
Congestive heart failure, Gastrointestinal hemorrhage, Vasculitis, Hypertension, Pericarditis, Ra... ORPHA:91139
Ethylene Glycol Poisoning
Congestive heart failure, Prolonged QT interval, Atrial fibrillation, Hypertension, Hypotension, ... ORPHA:31826
Aicardi-Goutieres Syndrome 9
Pericarditis, Hypertension, Increased blood pressure, Portal hypertension OMIM:619487
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hypertension OMIM:612925
Diffuse Cutaneous Systemic Sclerosis
Congestive heart failure, Telangiectasia of the skin, Hypertensive crisis, Pulmonary arterial hyp... ORPHA:220393
Nephronophthisis 1
Hypertension OMIM:256100
Porphyria, Acute Intermittent
Tachycardia, Hypertension OMIM:176000
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Tachycardia, Hypertension, Orthostatic hypotension OMIM:223900
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Decreased glomerular filtration rate, Focal segmental glomerulosclerosis, Nephrotic syndrome, Ren... OMIM:614748
Overlap Myositis
Hypertension, Raynaud phenomenon, Pulmonary arterial hypertension ORPHA:206572
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypertension OMIM:613095
Acute Interstitial Pneumonia
Hypertension ORPHA:79126
Arterial Tortuosity Syndrome
Myocarditis, Congestive heart failure, Hypertension, Cardiac arrest, Hypertrophic cardiomyopathy,... ORPHA:3342
Birk-Landau-Perez Syndrome
Hypertension OMIM:617595
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrioventricular block, Hypertension ORPHA:371428
Apparent Mineralocorticoid Excess
Hypertension ORPHA:320
Beta-Ketothiolase Deficiency
Hypertension, Hypotension ORPHA:134
Neuroleptic Malignant Syndrome
Bradycardia, Hypertension, Hypotension, Hypertensive crisis, Arrhythmia, Tachycardia, Pulmonary e... ORPHA:94093
Hereditary Pheochromocytoma-Paraganglioma
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Cereb... ORPHA:29072
Aorta Coarctation
Congestive heart failure, Hypertension, Pulmonary arterial hypertension ORPHA:1457
Porphyria Variegata
Tachycardia, Hypertension ORPHA:79473
Poliomyelitis
Hypovolemic shock, Hypertension, Hypotension ORPHA:2912
Carney Triad
Tachycardia, Gastrointestinal hemorrhage, Hypertension, Arrhythmia ORPHA:139411
Primary Progressive Freezing Gait
Hypertension ORPHA:75567
Cushing Syndrome Due To Ectopic Acth Secretion
Increased circulating ACTH level, Pancreatic endocrine tumor, Pheochromocytoma, Increased body we... ORPHA:99889
Arterial Tortuosity Syndrome
Ischemic stroke, Aortic regurgitation, Hypertension, Aortic valve stenosis, Telangiectases of the... OMIM:208050
Familial Bicuspid Aortic Valve
Aortic valve stenosis, Hypertension, Aortic regurgitation, Heart murmur ORPHA:402075
Neuroblastoma, Susceptibility To, 1
Hypertension OMIM:256700
Scorpion Envenomation
Myocarditis, Congestive heart failure, Prominent U wave, Hypertension, Premature ventricular cont... ORPHA:466677
Telangiectasia, Hereditary Hemorrhagic, Type 2
Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Spontaneous, recurrent epistaxis, Na... OMIM:600376
Alagille Syndrome
Hypertension, Telangiectasia of the skin ORPHA:52
Caudal Regression Syndrome
Hypertension ORPHA:3027
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypertension, Hypertrophic cardiomyopathy, Arrhythmia OMIM:614052
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Hypertension, Retinal hemorrhage, Bradycardia OMIM:614653
Acquired Generalized Lipodystrophy
Hypertension, Cardiomyopathy, Abnormal cardiovascular system physiology ORPHA:79086
Familial Dysautonomia
Tachycardia, Hypertension, Orthostatic hypotension ORPHA:1764
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hematemesis, Hypertension, Portal hypertension OMIM:263200
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Ischemic stroke, Aortic regurgitation, Hypertension, Transient ischemic attack, Hypovolemia, Suba... ORPHA:91387
Nestor-Guillermo Progeria Syndrome
Sinus tachycardia, Hypertension, Right bundle branch block, Pulmonary arterial hypertension, Mitr... OMIM:614008
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hypertension ORPHA:449291
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyperkalemia, Decreased circulating androstenedione concentration, Hypospadias, Elevated serum 11... OMIM:201750
Lead Poisoning
Hypertension ORPHA:330015
Paternal Uniparental Disomy Of Chromosome 1
Hypertension ORPHA:251004
Fabry Disease
Congestive heart failure, Angina pectoris, Hypertension, Transient ischemic attack, Hypertrophic ... ORPHA:324
Spondyloenchondrodysplasia
Vasculitis, Hypertension, Raynaud phenomenon ORPHA:1855
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hypertension ORPHA:1555
Wagro Syndrome
Hypertension OMIM:612469
Pituitary Adenoma 4, Acth-Secreting
Hypertension OMIM:219090
Crimean-Congo Hemorrhagic Fever
Hematemesis, Myocarditis, Melena, Bradycardia, Capillary leak, Hypertension, Hypotension, Retinal... ORPHA:99827
Livedoid Vasculopathy
Ischemic stroke, Hypertension, Telangiectasia of the skin ORPHA:542643
Autosomal Dominant Dopa-Responsive Dystonia
Hypertension ORPHA:98808
Nephronophthisis-Like Nephropathy 1
Hypertension OMIM:613159
Lmna-Related Cardiocutaneous Progeria Syndrome
Congestive heart failure, Hypertension, Aortic valve stenosis, Intracranial hemorrhage, Mitral re... ORPHA:363618
Renal Hypoplasia
Hypertension ORPHA:93101
Gaisböck Syndrome
Elevated diastolic blood pressure, Angina pectoris, Hypertension, Hypovolemia, Myocardial infarction ORPHA:90041
Low Phospholipid-Associated Cholelithiasis
Hypertension ORPHA:69663
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hypertension OMIM:616914
Pheochromocytoma/Paraganglioma Syndrome 4
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:115310
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Gastrointestinal hemorrhage, Hypertension, Cerebral ischemia, Intracranial hemorrhage, Pulmonary ... ORPHA:394
Seckel Syndrome 10
Congestive heart failure, Hypertension OMIM:617253
Alexander Disease
Hypotension, Hypertension, Sudden cardiac death ORPHA:58
Hurler Syndrome
Angina pectoris, Hypertension, Cardiomyopathy ORPHA:93473
Combined Oxidative Phosphorylation Deficiency 15
Hypertension, Shortened PR interval, Wolff-Parkinson-White syndrome OMIM:614947
Smooth Muscle Dysfunction Syndrome
Hypertension, Pulmonary arterial hypertension OMIM:613834
Igg4-Related Retroperitoneal Fibrosis
Renovascular hypertension, Large vessel vasculitis, Hypertension, Budd-Chiari syndrome ORPHA:49041
Cockayne Syndrome Type 1
Hypertension ORPHA:90321
Fragile X-Associated Tremor/Ataxia Syndrome
Hypertension, Hypotension ORPHA:93256
Von Hippel-Lindau Disease
Myocarditis, Hypertension, Cardiomyopathy, Arrhythmia, Palpitations, Abnormal left ventricular fu... ORPHA:892
Apert Syndrome
Hypertension ORPHA:87
Xfe Progeroid Syndrome
Hypertension OMIM:610965
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hypertension OMIM:235400
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Angina pectoris, Vasculitis, Hypertension, Cerebral ischemia, Perica... ORPHA:900
Galloway-Mowat Syndrome 3
Hypertension OMIM:617729
Neuroblastoma
Hypertension ORPHA:635
Hallermann-Streiff Syndrome
Hypertension, Pulmonary arterial hypertension, Telangiectasia OMIM:234100
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Hypertension, Intracranial hemorrhage ORPHA:90795
Papillorenal Syndrome
Hypertension OMIM:120330
Posterior Urethral Valve
Hypertension ORPHA:93110
Beare-Stevenson Cutis Gyrata Syndrome
Hypertension OMIM:123790
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Pulmonary embolism, Hypertension ORPHA:567546
Alport Syndrome 1, X-Linked
Hypertension OMIM:301050
Renal Agenesis
Hypertension ORPHA:411709
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Vasculitis, Hypertension, Portal hypertension, Raynaud phenomenon, Dilated cardiomyopathy OMIM:615688
Neuroendocrine Neoplasm Of Appendix
Adrenocorticotropic hormone excess, Intestinal carcinoid, Increased serum serotonin, Primary hype... ORPHA:100079
Sickle Cell Disease
Hypertension OMIM:603903
Acute Intermittent Porphyria
Tachycardia, Hypertension ORPHA:79276
Alport Syndrome 3A, Autosomal Dominant
Hypertension OMIM:104200
Marshall-Smith Syndrome
Premature ventricular contraction, Hypertension, Pulmonary arterial hypertension OMIM:602535
Prader-Willi Syndrome
Hypertension ORPHA:739
Carey-Fineman-Ziter Syndrome
Hypertensive crisis ORPHA:1358
Aicardi-Goutieres Syndrome 7
Hematemesis, Vasculitis, Hypertension, Hypertrophic cardiomyopathy, Hematochezia OMIM:615846
Tsh-Secreting Pituitary Adenoma
Congestive heart failure, Supraventricular arrhythmia, Hypertension, Hypotension, Ventricular arr... ORPHA:91347
Senior-Boichis Syndrome
Hypertension, Portal hypertension ORPHA:84081
Alport Syndrome
Hypertension ORPHA:63
Bardet-Biedl Syndrome 1
Hypertension OMIM:209900
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypertension ORPHA:90793
Alstrom Syndrome
Congestive heart failure, Dilated cardiomyopathy, Hypertension OMIM:203800
Carney Complex
Thyroid carcinoma, Increased circulating insulin-like growth factor 1 concentration, Pigmented mi... ORPHA:1359
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypertension, Myocardial infarction ORPHA:90038
Hunter-Macdonald Syndrome
Hypertension, Mitral regurgitation, Aortic regurgitation OMIM:611962
Postinfectious Vasculitis
Ischemic stroke, Hypertension, Cardiomyopathy, Vasculitis in the skin, Raynaud phenomenon, Cerebr... ORPHA:48435
Familial Osteodysplasia, Anderson Type
Hypertension ORPHA:2769
Au-Kline Syndrome
Hypertension OMIM:616580
Von Hippel-Lindau Syndrome
Hypertension OMIM:193300
Alkaptonuria
Hypertension, Aortic valve stenosis, Mitral stenosis, Mitral regurgitation, Myocardial infarction ORPHA:56
Blau Syndrome
Pericarditis, Hypertension OMIM:186580
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Hypertension, Hypertensive crisis ORPHA:544482
Hutchinson-Gilford Progeria Syndrome
Left ventricular systolic dysfunction, Aortic regurgitation, Angina pectoris, Hypertension, Trans... ORPHA:740
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypertension ORPHA:95699
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Hypertension, Third degree atrioventricular block, Pulmonary arterial hyp... OMIM:619573
Myhre Syndrome
Hypertension ORPHA:2588
Scalp-Ear-Nipple Syndrome
Congestive heart failure, Hypertension, Supraventricular tachycardia OMIM:181270
Denys-Drash Syndrome
Hypertension OMIM:194080
Acute Transverse Myelitis
Orthostatic hypotension, Hypertension, Subarachnoid hemorrhage ORPHA:139417
Cockayne Syndrome B
Hypertension, Arrhythmia OMIM:133540
Cockayne Syndrome A
Hypertension, Arrhythmia OMIM:216400
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hypertension OMIM:266920
Orofaciodigital Syndrome I
Hypertension OMIM:311200
Pseudohypoparathyroidism Type 1A
Hypertension, Prolonged QT interval ORPHA:79443
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Pulmonary venous hypertension, Hypertension, Epistaxis ORPHA:79259
Lipodystrophy, Familial Partial, Type 2
Hypertension OMIM:151660
Mucopolysaccharidosis Type 2, Severe Form
Heart murmur, Hypertension, Cardiomyopathy, Arrhythmia ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Heart murmur, Hypertension, Cardiomyopathy, Arrhythmia ORPHA:217093
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hypertension OMIM:617913
Xq21 Microdeletion Syndrome
Hypertension ORPHA:1435
Myhre Syndrome
Aortic valve stenosis, Hypertension OMIM:139210
Mucopolysaccharidosis Type 2
Hypertension, Cardiomyopathy, Arrhythmia ORPHA:580
Arima Syndrome
Hypertension OMIM:243910
Orofaciodigital Syndrome Type 1
Hypertension ORPHA:2750
Cranioectodermal Dysplasia 2
Hypertension OMIM:613610
Cockayne Syndrome
Hypertension, Retinal hemorrhage ORPHA:191
Homozygous Familial Hypercholesterolemia
Angina pectoris, Hypertension, Mitral regurgitation, Heart murmur, Supravalvular aortic stenosis,... ORPHA:391665
Scalp-Ear-Nipple Syndrome
Hypertension ORPHA:2036
Adams-Oliver Syndrome 1
Pulmonic stenosis, Hypertension, Aortic valve stenosis, Pulmonary arterial hypertension OMIM:100300
Smith-Lemli-Opitz Syndrome
Ventricular fibrillation, Hypertension, Hypertrophic cardiomyopathy OMIM:270400
Hardikar Syndrome
Hematemesis, Hypertension, Portal hypertension OMIM:301068
Multicystic Dysplastic Kidney
Hypertension ORPHA:1851
Williams Syndrome
Congestive heart failure, Hypertension, Cerebral ischemia, Hypertrophic cardiomyopathy, Pulmonic ... ORPHA:904
Multiple Endocrine Neoplasia Type 2
Palpitations, Hypertension associated with pheochromocytoma, Hypertensive crisis ORPHA:653
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Hypertension, Portal hypertension ORPHA:731
Pierson Syndrome
Hypertension, Retinal hemorrhage OMIM:609049
Yunis-Varon Syndrome
Renovascular hypertension, Hypertension, Cardiomyopathy, Pulmonary arterial hypertension ORPHA:3472
Atypical Werner Syndrome
Aortic valve stenosis, Congestive heart failure, Hypertension, Telangiectasia of the skin 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
Lipodystrophy, Familial Partial, Type 7
Hypertension, Orthostatic hypotension, Pulmonary arterial hypertension OMIM:606721
Turner Syndrome Due To Structural X Chromosome Anomalies
Hypertension, Prolonged QT interval, Myocardial infarction ORPHA:99413
Turner Syndrome
Hypertension, Prolonged QT interval, Myocardial infarction ORPHA:881
Mosaic Monosomy X
Hypertension, Prolonged QT interval, Myocardial infarction ORPHA:99228
Monosomy X
Hypertension, Prolonged QT interval, Myocardial infarction ORPHA:99226
Blau Syndrome
Pericarditis, Large vessel vasculitis, Hypertension, Pulmonary arterial hypertension ORPHA:90340
Systemic Lupus Erythematosus
Hypertension, Raynaud phenomenon ORPHA:536
Neurofibromatosis, Type I
Hypertension OMIM:162200
Renal Dysplasia
Hypertension ORPHA:93108
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Hypertensive crisis, Corneal neovascularization ORPHA:567
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
Pulmonary embolism, Hypertension, Budd-Chiari syndrome, Myocardial infarction ORPHA:447
17Q11 Microdeletion Syndrome
Hypertension, Hypertrophic cardiomyopathy, Pulmonary arterial hypertension, Pulmonic stenosis, Re... ORPHA:97685
Bardet-Biedl Syndrome
Hypertension, Cardiomyopathy ORPHA:110
Keutel Syndrome
Pulmonic stenosis, Hypertension OMIM:245150
Neurofibromatosis Type 1
Hypertension ORPHA:636
Hypomagnesemia 3, Renal
Hypertension OMIM:248250
Congenital Disorder Of Glycosylation, Type Iim
Hypertension OMIM:300896
Generalized Arterial Calcification Of Infancy
Left ventricular systolic dysfunction, Hypertension, Weak pulse, Transient ischemic attack, Pulmo... ORPHA:51608
Williams-Beuren Syndrome
Hypertension, Portal hypertension, Pulmonic stenosis, Mitral regurgitation, Supravalvular aortic ... OMIM:194050
Vascular Ehlers-Danlos Syndrome
Hypertension, Transient ischemic attack, Internal hemorrhage, Renovascular hypertension, Telangie... ORPHA:286
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Corneal neovascularization, Hypertension OMIM:308205
Alström Syndrome
Congestive heart failure, Hypertension, Pulmonary arterial hypertension, Portal hypertension, Dil... 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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