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 diastolic blood pressure, Elevated mean arterial pressure, Elevated systolic blood pressure OMIM:145500
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
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, Adrenocorticotropic hormone excess, Renal salt wasting, Hyperaldosteronism OMIM:613743
Hyperaldosteronism, Familial, Type I
Adrenogenital syndrome, Hyperaldosteronism, Decreased circulating renin level, Abnormality of the... OMIM:103900
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Coronary Artery Disease, Autosomal Dominant, 1
Myocardial infarction, Hypertension OMIM:608320
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyponatremia, Hyperkalemia, Renal salt wasting, Hyperactive renin-angiotensin system, Pseudohypoa... OMIM:264350
Congenital Pulmonary Veins Atresia Or Stenosis
Hypertension ORPHA:3188
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Hyperaldosteronism, Hypercalciuria, Polyuria, Decreased circulating renin level, Adr... OMIM:613677
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Increased circulating renin level, Hyperkalemia, Hyperactive renin-angiotensin syst... OMIM:177735
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Hypokalemia, Adrenocortical carcinoma, Incre... ORPHA:1501
Bartter Syndrome, Type 3
Impaired reabsorption of chloride, Hypokalemia, Hyperaldosteronism, Increased circulating renin l... OMIM:607364
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hypochloremia, Decreased glomerular filtration rate, Polyuria, Renal s... OMIM:613090
East Syndrome
Hypokalemia, Increased circulating renin level, Enuresis, Renal salt wasting, Renal sodium wastin... ORPHA:199343
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hypokalemia, Reduced renal corticomedullary differentiation, Hyponatremia, Hypochloremia, Decreas... OMIM:602522
Familial Hyperaldosteronism Type Ii
Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Secretor... ORPHA:404
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Hypochloremia, Hyperactive renin-angiotensin system, Hyperaldosteronism OMIM:214700
Paragangliomas 6
Hypertension OMIM:618464
Familial Hyperaldosteronism Type I
Hypokalemia, Dexamethasone-suppressible primary hyperaldosteronism, Adrenal hyperplasia, Secretor... ORPHA:403
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Decreased glomerular filtration rate, Renal tubular atrophy, Nephritis, Nephropathy, Renal insuff... OMIM:162000
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypokalemia, Hyperaldosteronism, Increased circulating renin level, Enuresis, Polyuria, Renal sal... OMIM:612780
Adrenocortical Hypofunction, Chronic Primary Congenital
Adrenal insufficiency, Decreased circulating cortisol level, Hypernatriuria OMIM:103230
Hyperaldosteronism, Familial, Type Ii
Hypertension OMIM:605635
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hyperlipidemia, Abnormal response to corticotropin releasing hormone stimulation test, Macronodul... ORPHA:189427
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Cardiac arrest, Congestive heart failure, Pulmonary embolism, Pro... OMIM:613485
Familial Hyperaldosteronism Type Iii
Hypokalemia, Hypercalciuria, Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyper... ORPHA:251274
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypokalemia, Neoplasm of the adrenal gland, Glucocortocoid-insensitive primary hyperaldosteronism... ORPHA:231625
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension OMIM:166990
Primary Unilateral Adrenal Hyperplasia
Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Decreased circulating renin l... ORPHA:231580
Ectopic Aldosterone-Producing Tumor
Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Renal cortical adenoma, Decre... ORPHA:231632
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Decreased glomerular filtration rate, Nephropathy OMIM:242530
Bartter Syndrome, Type 1, Antenatal
Hypokalemia, Nephrocalcinosis, Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperaldostero... OMIM:601678
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Increased circulating renin level, Hyperkalemia, Abnormal circulating corticosteron... ORPHA:556037
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal resorption, Nephrocalcinosis, Hypermagnesiuria, Hypercalciuria, Hypocalcemia, Hype... ORPHA:73224
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Abnormal circulating aldosterone, Increased circulating renin level, Hyperkalemia, ... ORPHA:171876
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia, Nephrolithiasis, Adrenal hyperplasia, Hyperaldosteronism, Abnormal circulating renin ORPHA:369929
Bartter Syndrome Type 4
Hypokalemia, Nephrocalcinosis, Hyponatremia, Hypochloremia, Acute kidney injury, Hypercalciuria, ... ORPHA:89938
Atrial Fibrillation, Familial, 14
Prolonged PR interval, ST segment elevation, Paroxysmal atrial fibrillation, Hypertension OMIM:615378
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Melorheostosis With Osteopoikilosis
Hypertension ORPHA:1879
Lcat Deficiency
Proteinuria, Acute kidney injury, Decreased glomerular filtration rate, Hypertriglyceridemia, Ren... ORPHA:650
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency OMIM:618061
Spastic Paraplegia-Nephritis-Deafness Syndrome
Hypertension ORPHA:2820
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Increased circulating renin level, Hyperkalemia, Abnormal circulating corticosteron... ORPHA:556030
Periodic Fever, Menstrual Cycle-Dependent
Increased circulating cortisol level OMIM:614674
Corticosteroid-Binding Globulin Deficiency
Hypotension, Hypertension OMIM:611489
Liddle Syndrome 3
Hypertension OMIM:618126
Arterial Calcification, Generalized, Of Infancy, 2
Myocardial infarction, Hypertension, Congestive heart failure OMIM:614473
Nail-Patella-Like Renal Disease
Hypertension ORPHA:2613
Preeclampsia/Eclampsia 1
Hypertension OMIM:189800
Multiple Endocrine Neoplasia, Type Iia
Thyroid C cell hyperplasia, Elevated urinary dopamine, Medullary thyroid carcinoma, Parathyroid a... OMIM:171400
Hypertension And Brachydactyly Syndrome
Hypertension OMIM:112410
Orthostatic Hypotension 2
Decreased glomerular filtration rate OMIM:618182
Bartter Syndrome, Type 2, Antenatal
Hypokalemia, Nephrocalcinosis, Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperaldostero... OMIM:241200
Trimethylaminuria
Tachycardia, Hypertension OMIM:602079
Coronary Artery Disease, Autosomal Dominant 2
Sudden cardiac death, Hypertension, Myocardial infarction OMIM:610947
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Abdominal obesity, Decreased ... OMIM:615954
Focal Segmental Glomerulosclerosis 5
Hypertension OMIM:613237
Hereditary Renal Hypouricemia
Abnormal renal tubule morphology, Uric acid urolithiasis independent of gout, Hematuria, Acute ki... ORPHA:94088
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hypertension OMIM:607832
Iga Nephropathy, Susceptibility To, 3
Hypertension OMIM:616818
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Arrhythmia, Congestive heart failure, Pulmonary embolism, Hypertrophic cardiomyopathy, Hypertension ORPHA:1345
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Decreased circulating free fatty acid level, Increased C-peptide level, Multiple pancreatic beta-... ORPHA:79644
Cystic Hamartoma Of Lung And Kidney
Hypertension ORPHA:2111
Focal Segmental Glomerulosclerosis 2
Hypertension OMIM:603965
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrocalcinosis, Glomerular sclerosis, Nephrolithiasis, Proximal tubulopathy, Hypercalciuria, Ch... OMIM:310468
Thymic Neuroendocrine Tumor
Weight loss, Pituitary prolactin cell adenoma, Primary hyperparathyroidism, Increased circulating... ORPHA:97289
Iga Nephropathy, Susceptibility To, 2
Hypertension OMIM:613944
Renal Failure, Progressive, With Hypertension
Hypertension OMIM:161900
Gitelman Syndrome
Hypokalemia, Proteinuria, Hashimoto thyroiditis, Hypomagnesemia, Renal tubular acidosis, Hypocalc... ORPHA:358
Moyamoya Disease 6 With Or Without Achalasia
Raynaud phenomenon, Hypertension, Ischemic stroke OMIM:615750
Primary Hyperoxaluria Type 1
Nephrocalcinosis, Nephrolithiasis, Hematuria, Dysuria, Decreased glomerular filtration rate, Enur... ORPHA:93598
Moyamoya Disease With Early-Onset Achalasia
Raynaud phenomenon, Hypertension ORPHA:401945
Hypocalcemia, Autosomal Dominant 1
Nephrocalcinosis, Nephrolithiasis, Increased circulating renin level, Hypercalciuria, Decreased g... OMIM:601198
Liddle Syndrome
Cerebral ischemia, Hypertension, Arrhythmia ORPHA:526
Andersen-Tawil Syndrome
Hyperaldosteronism, Renal hypoplasia, Renal tubular dysfunction ORPHA:37553
Pigmented Nodular Adrenocortical Disease, Primary, 1
Decreased circulating dehydroepiandrosterone concentration, Increased serum testosterone level, I... OMIM:610489
Morbid Obesity And Spermatogenic Failure
Myocardial infarction, Hypertension, Congestive heart failure OMIM:615703
Congenital Megacalycosis
Enlarged kidney, Renal cyst, Nephrolithiasis, Hematuria, Hydronephrosis, Tubulointerstitial nephr... ORPHA:93109
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Hypertension OMIM:605115
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Pyelonephritis, Renal cyst, Nephrolithiasis, Hematuria, Decreased glomerular fil... ORPHA:730
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Glomerular sclerosis, Decreased glomerular filtration rate, Renal hypoplasia, Renal salt wasting,... OMIM:174000
Glomerulopathy With Fibronectin Deposits 1
Hypertension OMIM:137950
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Hypertension OMIM:605711
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Telangiectases producing 'marbled' skin, Hypertension OMIM:206570
Oculocerebrorenal Syndrome Of Lowe
Hypokalemia, Diabetes insipidus, Proteinuria, Hyperaldosteronism, Proximal renal tubular acidosis... ORPHA:534
Oligomeganephronia
Unilateral renal agenesis, Abnormality of medullary pyramid morphology, Decreased numbers of neph... ORPHA:2260
Familial Cervical Artery Dissection
Transient ischemic attack, Hypertension, Cerebral ischemia, Subarachnoid hemorrhage, Recurrent ce... ORPHA:36382
Cirrhosis, Familial
Pulmonary arterial hypertension, Hypertension OMIM:215600
Lessel-Kubisch Syndrome
Hypertension OMIM:618681
Maternally-Inherited Diabetes And Deafness
Hypertrophic cardiomyopathy, Hypertension, Arrhythmia, Congestive heart failure ORPHA:225
Rowley-Rosenberg Syndrome
Pulmonary arterial hypertension, Hypertension OMIM:268500
Iga Nephropathy, Susceptibility To, 1
Hypertension OMIM:161950
Adrenal Hypoplasia, Congenital
Adrenal insufficiency, Hypogonadotropic hypogonadism, Primary adrenal insufficiency, Hyponatremia... OMIM:300200
Leprechaunism
Enlarged kidney, Nephrocalcinosis, Decreased body weight, Hyperinsulinemia, Central hypothyroidis... ORPHA:508
Glucocorticoid Deficiency 5
Decreased circulating cortisol level, Abnormal response to ACTH stimulation test OMIM:617825
Grange Syndrome
Hypertension, Aortic regurgitation ORPHA:79094
Pigmented Nodular Adrenocortical Disease, Primary, 2
Primary hypercortisolism, Truncal obesity, Paradoxical increased cortisol secretion on dexamethas... OMIM:610475
Focal Segmental Glomerulosclerosis 1
Hypertension OMIM:603278
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Arrhythmia, Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Congestive heart ... OMIM:540000
Pseudohypoaldosteronism, Type Iia
Hypertension OMIM:145260
Autoimmune Polyendocrinopathy Type 1
Primary adrenal insufficiency, Abnormal calcium-phosphate regulating hormone level, Decreased cir... ORPHA:3453
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Hypertension, Congestive heart failure OMIM:208000
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertension ORPHA:71529
Preeclampsia
Elevated diastolic blood pressure, Elevated systolic blood pressure, Hypertension ORPHA:275555
Coproporphyria, Hereditary
Tachycardia, Hypertension OMIM:121300
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Hypertension, Arrhythmia ORPHA:3222
Pigmented Nodular Adrenocortical Disease, Primary, 4
Primary hypercortisolism, Diabetes mellitus, Adrenal hyperplasia, Increased body weight, Increase... OMIM:615830
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension OMIM:616069
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Arrhythmia OMIM:617021
Primary Membranoproliferative Glomerulonephritis
Myocardial infarction, Hypertension ORPHA:54370
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Pulmonary carcinoid tumor, Thymoma, Neuroendocrine neoplasm... ORPHA:276152
Acth-Independent Macronodular Adrenal Hyperplasia
Macronodular adrenal hyperplasia, Primary hypercortisolism, Truncal obesity, Adrenal hyperplasia,... OMIM:219080
Fibronectin Glomerulopathy
Cerebral hemorrhage, Hypertension ORPHA:84090
Tako-Tsubo Cardiomyopathy
ST segment elevation, Ventricular fibrillation, Arrhythmia, Bradycardia, T-wave inversion, ST seg... ORPHA:66529
Hereditary Amyloidosis With Primary Renal Involvement
Nephrotic syndrome, Proteinuria, Decreased glomerular filtration rate, Nocturia, Renal interstiti... ORPHA:85450
Glomerulopathy With Fibronectin Deposits 2
Hypertension OMIM:601894
Glucocorticoid Resistance, Generalized
Hypertension OMIM:615962
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Hyponatremia, Adrenal hypoplasia, Adrenocorticotropin defic... ORPHA:199296
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hypertension OMIM:600666
Multiple Endocrine Neoplasia, Type I
Hypercalcemia, Thyroid adenoma, Pituitary prolactin cell adenoma, Parathyroid adenoma, Elevated c... OMIM:131100
Secondary Intestinal Lymphangiectasia
Secondary hyperaldosteronism, Hypoalbuminemia, Reduced circulating transferrin concentration, Hyp... ORPHA:90363
Mccune-Albright Syndrome
Hyperthyroidism, Elevated circulating growth hormone concentration, Increased circulating prolact... OMIM:174800
Liddle Syndrome 2
Hypertension OMIM:618114
Primary Hyperoxaluria Type 3
Nephrocalcinosis, Hematuria, Dysuria, Abnormality of urine homeostasis, Abnormal renal physiology... ORPHA:93600
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Hypokalemia, Adrenogenital syndrome, Increas... OMIM:202010
Familial Partial Lipodystrophy, Köbberling Type
Hypertension ORPHA:79084
Peripartum Cardiomyopathy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Abnormal T-wave, Sinus tachycardia... ORPHA:563
Bangstad Syndrome
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Abnormality of the parathyroid g... ORPHA:1227
Sneddon Syndrome
Intracranial hemorrhage, Hypertension ORPHA:820
Primary Pigmented Nodular Adrenocortical Disease
Hyperlipidemia, Nephrolithiasis, Abdominal obesity, Increased urinary cortisol level, Paradoxical... ORPHA:189439
Amyloidosis, Familial Visceral
Hypertension OMIM:105200
Erythrocytosis, Familial, 1
Cerebral hemorrhage, Myocardial infarction, Hypertension OMIM:133100
Denys-Drash Syndrome
Hypertension ORPHA:220
Pauci-Immune Glomerulonephritis
Glomerular sclerosis, Proteinuria, Acute kidney injury, Decreased glomerular filtration rate, Glo... ORPHA:93126
Nelson Syndrome
Hypokalemia, Pituitary corticotropic cell adenoma, Adrenocorticotropic hormone excess, Diabetes i... ORPHA:199244
Senior-Loken Syndrome
Hypertension ORPHA:3156
Takayasu Arteritis
Hypertrophic cardiomyopathy, Myocardial infarction, Hypertensive crisis, Pulmonary arterial hyper... ORPHA:3287
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Positive regit... OMIM:171420
Potocki-Shaffer Syndrome
Hypertension ORPHA:52022
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Nephrotic syndrome, Failure to thrive in infancy, Proteinuria, Decreased glomerular filtration ra... ORPHA:488627
African Iron Overload
Increased circulating ferritin concentration, Abnormality of adrenal morphology, Elevated transfe... ORPHA:139507
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Pulmonary arterial hypertension, Hypertension OMIM:613355
Generalized Glucocorticoid Resistance Syndrome
Hypokalemia, Adrenal hyperplasia, Increased urinary cortisol level, Decreased circulating aldoste... ORPHA:786
Pseudohypoaldosteronism, Type Iib
Hypertension OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hypertension OMIM:614495
Lipodystrophy, Familial Partial, Type 4
Hypertension OMIM:613877
Pseudohypoaldosteronism Type 2
Hypertension ORPHA:757
Glutaric Aciduria Iii
Hypertension OMIM:231690
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Mitral regurgitation, Hypertension OMIM:173900
Glycogen Storage Disease Ia
Enlarged kidney, Hyperlipidemia, Nephrolithiasis, Proteinuria, Decreased glomerular filtration ra... OMIM:232200
Zollinger-Ellison Syndrome
Pituitary corticotropic cell adenoma, Hyperparathyroidism, Hypercalcemia, Adrenocortical carcinom... ORPHA:913
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Increased pulmonary vascular resistance, Pulmonary arterial hyper... OMIM:178600
Mccune-Albright Syndrome
Abnormal endocrine physiology, Renal tubular dysfunction, Increased serum testosterone level, Abn... ORPHA:562
Methanol Poisoning
Inflammatory arteriopathy, Permanent atrial fibrillation, Myocardial infarction, Hypertension, Ce... ORPHA:31825
Plin1-Related Familial Partial Lipodystrophy
Hypertension ORPHA:280356
Distal Renal Tubular Acidosis
Renal cyst, Nephrocalcinosis, Hypermagnesiuria, Nephrolithiasis, Hypocitraturia, Hypercalciuria, ... ORPHA:18
Atrioventricular Septal Defect 3
Midsystolic murmur, Congestive heart failure, First degree atrioventricular block, Pulmonary arte... OMIM:600309
Glycogen Storage Disease Ib
Enlarged kidney, Hyperlipidemia, Nephrolithiasis, Proteinuria, Decreased glomerular filtration ra... OMIM:232220
Idiopathic Non-Lupus Full-House Nephropathy
Hypertension ORPHA:567544
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hypertension, Congestive heart failure ORPHA:1349
Pituitary Apoplexy
Central diabetes insipidus, Hyponatremia, Hypopituitarism, Hypergonadotropic hypogonadism, Increa... ORPHA:95613
Glycogen Storage Disease Ic
Hyperlipidemia, Hematuria, Proteinuria, Decreased glomerular filtration rate, Chronic pancreatiti... OMIM:232240
Sneddon Syndrome
Cerebral hemorrhage, Hypertension, Ischemic stroke OMIM:182410
X-Linked Hypohidrotic Ectodermal Dysplasia
Hypertension ORPHA:181
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Retinal hemorrhage, Congestive heart failure, Restrictive cardiomyop... OMIM:264800
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypertension OMIM:201910
Polyarteritis Nodosa
Raynaud phenomenon, Cardiomyopathy, Hypertension, Pericarditis ORPHA:767
Postorgasmic Illness Syndrome
Palpitations, Hypertension ORPHA:279947
Central Hypoventilation Syndrome, Congenital, 3
Episodic hypertension OMIM:619483
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Hypertension OMIM:202110
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hypertension ORPHA:1192
Familial Cerebral Saccular Aneurysm
Subarachnoid hemorrhage, Transient ischemic attack, Intracranial hemorrhage, Hypertension ORPHA:231160
Aapoaiv Amyloidosis
Sinus bradycardia, Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Le... ORPHA:439232
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Cerebral ischemia, Hypertension, Lacunar stroke, Cerebral hemorrhage, ... ORPHA:136
Ganglioneuroma
Hypertension, Gastrointestinal hemorrhage ORPHA:251992
Pseudohypoaldosteronism, Type Iic
Hypertension OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hypertension OMIM:614496
Lipodystrophy, Familial Partial, Type 1
Hypertension OMIM:608600
Coenzyme Q10 Deficiency, Primary, 8
Hypertension OMIM:616733
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stroke ORPHA:280679
Acquired Aneurysmal Subarachnoid Hemorrhage
Congestive heart failure, Cerebral hemorrhage, ST segment depression, Ischemic stroke, Myocardial... ORPHA:90065
Abdominal Obesity-Metabolic Syndrome 3
Myocardial infarction, Hypertension OMIM:615812
Vipoma
Hypokalemia, Hypercalcemia, Abnormality of the thyroid gland, Primary hyperparathyroidism, Parath... ORPHA:97282
Non-Functioning Paraganglioma
Sinus tachycardia, Congestive heart failure, Hypertension associated with pheochromocytoma, Palpi... ORPHA:94080
Rhabdoid Tumor
Hypertension, Internal hemorrhage ORPHA:69077
Multicentric Carpotarsal Osteolysis Syndrome
Hypertension OMIM:166300
Coach Syndrome 2
Hypertension OMIM:619111
Riboflavin Transporter Deficiency
Hypertension ORPHA:97229
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Hypertension OMIM:613870
Bronchial Neuroendocrine Tumor
Pulmonary carcinoid tumor, Elevated circulating growth hormone concentration, Increased serum ser... ORPHA:97287
Lipodystrophy, Familial Partial, Type 6
Hypertension OMIM:615980
Polycythemia Vera
Portal hypertension, Gastrointestinal hemorrhage, Pulmonary embolism, Hypertension, Budd-Chiari s... ORPHA:729
Somatostatinoma
Hypercalcemia, Medullary thyroid carcinoma, Abnormality of the thyroid gland, Primary hyperparath... ORPHA:97283
Liddle Syndrome 1
Hypertension OMIM:177200
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Pulmonary arterial hypertension, Hypertension OMIM:608406
Ppoma
Intestinal carcinoid, Hypercalcemia, Abnormality of the thyroid gland, Primary hyperparathyroidis... ORPHA:97278
Pituitary Adenoma 1, Multiple Types
Cardiomyopathy, Hypertension OMIM:102200
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Pulmonary arterial hypertension, Hypertension OMIM:613623
Multiple Endocrine Neoplasia Type 1
Intestinal carcinoid, Pituitary corticotropic cell adenoma, Abnormal circulating aldosterone, Pul... ORPHA:652
Familial Pseudohyperkalemia
Hypertension ORPHA:90044
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertension ORPHA:363400
C3 Glomerulopathy
Hypertension ORPHA:329918
Paragangliomas 3
Palpitations, Hypertension associated with pheochromocytoma, Tachycardia OMIM:605373
Grfoma
Intestinal carcinoid, Palmoplantar hyperhidrosis, Hypercalcemia, Abnormality of the thyroid gland... ORPHA:97261
Paroxysmal Hemicrania
Hypertension ORPHA:157835
Lipodystrophy, Familial Partial, Type 5
Hypertension OMIM:615238
Juvenile Paget Disease
Hypertension ORPHA:2801
Hemorrhagic Fever-Renal Syndrome
Oliguria, Acute tubulointerstitial nephritis, Decreased body weight, Hematuria, Acute kidney inju... ORPHA:340
Nephroblastoma
Hypertension ORPHA:654
Heme Oxygenase 1 Deficiency
Hypertension, Diffuse alveolar hemorrhage, Epistaxis OMIM:614034
Cutis Marmorata Telangiectatica Congenita
Telangiectasia, Hypertension OMIM:219250
Extracranial Carotid Artery Aneurysm
Arteritis, Vasculitis, Hypertension, Cerebral ischemia, Subarachnoid hemorrhage ORPHA:494424
Abdominal Obesity-Metabolic Syndrome 4
Myocardial infarction, Hypertension OMIM:618620
Ochoa Syndrome
Hypertension ORPHA:2704
Apparent Mineralocorticoid Excess
Hypertension OMIM:218030
Stiff Skin Syndrome
Hypertension ORPHA:2833
Cryoglobulinemia, Familial Mixed
Hypertension OMIM:123550
Isolated Ectopia Lentis
Hypertension ORPHA:1885
Fanconi Renotubular Syndrome 5
Hypertension OMIM:618913
Lysinuric Protein Intolerance
Abnormal renal tubule morphology, Oroticaciduria, Hypercholesterolemia, Proteinuria, Hyperlysinur... ORPHA:470
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypertension OMIM:613095
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Pulmonary arterial hypertension, Hypertension OMIM:613320
Gaucher Disease, Type I
Pulmonary arterial hypertension, Hypertension, Mitral regurgitation, Aortic valve stenosis, Epist... OMIM:230800
Glucagonoma
Hypercalcemia, Abnormality of the thyroid gland, Primary hyperparathyroidism, Parathyroid adenoma... ORPHA:97280
Fabry Disease
Arrhythmia, Congestive heart failure, Myocardial infarction, Transient ischemic attack, Hypertens... OMIM:301500
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Arrhythmia, Abnormal left ventricular function, Left anterior fascicular block, Heart murmur, Hyp... ORPHA:437572
Tetanus
Bradycardia, Tachycardia, Hypertension ORPHA:3299
Patterson Pseudoleprechaunism Syndrome
Diabetes mellitus, Increased circulating cortisol level, Premature adrenarche OMIM:169170
Nephronophthisis 2
Hypertension, Pulmonary insufficiency OMIM:602088
Pheochromocytoma
Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Positive regit... OMIM:171300
Paragangliomas 1
Palpitations, Hypertension associated with pheochromocytoma, Tachycardia OMIM:168000
Infant Botulism
Hypotension, Cardiac arrest, Hypertension ORPHA:178478
Mercury Poisoning
Tachycardia, Hypotension, Hypertension ORPHA:330021
Primary Lipodystrophy
Angina pectoris, Cardiomyopathy, Hypertension, Congestive heart failure ORPHA:90970
Fibrous Dysplasia Of Bone
Precocious puberty in females, Hypercalcemia, Hyperthyroidism, Elevated circulating growth hormon... ORPHA:249
Monosomy 18P
Hypertension ORPHA:1598
Joubert Syndrome 14
Hypertension OMIM:614424
Alagille Syndrome 2
Hypertension, Pulmonic stenosis OMIM:610205
Alkaptonuria
Decreased glomerular filtration rate, Elevated urinary homogentisic acid, Nephrolithiasis OMIM:203500
Morgagni-Stewart-Morel Syndrome
Hypertension ORPHA:77296
Pediatric-Onset Graves Disease
Sinus tachycardia, Congestive heart failure, Atrial fibrillation, Hypertension, Palpitations ORPHA:525731
Eosinophilic Granulomatosis With Polyangiitis
Recurrent intrapulmonary hemorrhage, Congestive heart failure, Hypertrophic cardiomyopathy, Myoca... ORPHA:183
Porphyria
Hypertension ORPHA:738
Lipodystrophy, Familial Partial, Type 3
Hypertension OMIM:604367
Pparg-Related Familial Partial Lipodystrophy
Hypertrophic cardiomyopathy, Hypertension, Congestive heart failure ORPHA:79083
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Telangiectasia, Retinal neovascularization, Hypertension, Cardiomyop... ORPHA:247691
Renal Hypodysplasia/Aplasia 1
Hypertension OMIM:191830
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Hypertension OMIM:618886
Buschke-Ollendorff Syndrome
Hypertension ORPHA:1306
Schimke Immunoosseous Dysplasia
Cerebral ischemia, Transient ischemic attack, Hypertension OMIM:242900
Frasier Syndrome
Hypertension ORPHA:347
Sporadic Pheochromocytoma/Secreting Paraganglioma
Sinus tachycardia, Congestive heart failure, Hypertension associated with pheochromocytoma, Palpi... ORPHA:276621
Aortic Arch Interruption
Systolic heart murmur, Aortic regurgitation, Congestive heart failure, Shock, Absent pulse, Right... ORPHA:2299
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, 5
Hypertension OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hypertension OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hypertension OMIM:612926
Congenital Hypothyroidism
Hypotension, Hypertension, Arrhythmia ORPHA:442
Serotonin Syndrome
Tachycardia, Hypotension, Hypertension ORPHA:43116
Schimke Immuno-Osseous Dysplasia
Congestive heart failure, Pulmonary arterial hypertension, Transient ischemic attack, Hypertensio... ORPHA:1830
Arteriosclerosis, Severe Juvenile
Myocardial infarction, Hypertension OMIM:208060
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Pulmonary arterial hypertension, Hypertension OMIM:615474
Cocaine Intoxication
Hypovolemia, Diffuse alveolar hemorrhage, Hypotension, Myocardial infarction, Ventricular arrhyth... ORPHA:90068
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Retinal hemorrhage, Sudden cardiac death, Telangiectasia of the skin... ORPHA:758
Arterial Tortuosity Syndrome
Aortic regurgitation, Telangiectases of the cheeks, Hypertension, Aortic valve stenosis, Ischemic... OMIM:208050
Stiff-Person Syndrome
Tachycardia, Hypertension OMIM:184850
Adenine Phosphoribosyltransferase Deficiency
Atrial fibrillation, Hypertension ORPHA:976
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Congestive heart failure, Myocardial infarction, Vasculitis, Hyperte... ORPHA:91139
Coach Syndrome 1
Portal hypertension, Hypertension OMIM:216360
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Portal hypertension, Hypertension OMIM:263200
Ethylene Glycol Poisoning
Congestive heart failure, Hypotension, Prolonged QT interval, Atrial fibrillation, Hypertension, ... ORPHA:31826
Aicardi-Goutieres Syndrome 9
Increased blood pressure, Portal hypertension, Hypertension, Pericarditis OMIM:619487
Methylcobalamin Deficiency Type Cble
Hypertension ORPHA:2169
Popov-Chang syndrome
Hypertension, Pulmonic stenosis OMIM:618428
Alport Syndrome 2, Autosomal Recessive
Hypertension OMIM:203780
Nephronophthisis 1
Hypertension OMIM:256100
Porphyria, Acute Intermittent
Tachycardia, Hypertension OMIM:176000
Cushing Disease
Pituitary corticotropic cell adenoma, Increased urinary cortisol level, Truncal obesity, Paradoxi... ORPHA:96253
Overlap Myositis
Pulmonary arterial hypertension, Raynaud phenomenon, Hypertension ORPHA:206572
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal interstitial edema, Renal Fanconi syndrome, Weight loss, Beta 2-microglobulinuria, Sterile ... ORPHA:91500
Diffuse Cutaneous Systemic Sclerosis
Telangiectasia of the skin, Pulmonary arterial hypertension, Hypertensive crisis, Congestive hear... ORPHA:220393
Bardet-Biedl Syndrome
Hypertension ORPHA:110
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Nephrotic syndrome, Proteinuria, Decreased glomerular filtration rate, Renal tubular atrophy, Ren... OMIM:614748
Alstrom Syndrome
Dilated cardiomyopathy, Hypertension, Congestive heart failure OMIM:203800
Acute Interstitial Pneumonia
Hypertension ORPHA:79126
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Cardiac arrest, Congestive heart failure, Hypertrophic cardiomyopathy, My... ORPHA:3342
Carney Triad
Tachycardia, Hypertension, Gastrointestinal hemorrhage, Arrhythmia ORPHA:139411
Apparent Mineralocorticoid Excess
Hypertension ORPHA:320
Poliomyelitis
Hypotension, Hypovolemic shock, Hypertension ORPHA:2912
Neuroleptic Malignant Syndrome
Arrhythmia, Pulmonary embolism, Hypotension, Hypertensive crisis, Hypertension, Bradycardia, Tach... ORPHA:94093
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Tachycardia, Orthostatic hypotension, Hypertension OMIM:223900
Caudal Regression Syndrome
Hypertension ORPHA:3027
Familial Bicuspid Aortic Valve
Heart murmur, Aortic valve stenosis, Hypertension, Aortic regurgitation ORPHA:402075
Beta-Ketothiolase Deficiency
Hypotension, Hypertension ORPHA:134
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Hypertension, Atrioventricular block ORPHA:371428
Primary Progressive Freezing Gait
Hypertension ORPHA:75567
Neuroblastoma, Susceptibility To, 1
Hypertension OMIM:256700
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy, Hypertension, Arrhythmia OMIM:614052
Paternal Uniparental Disomy Of Chromosome 1
Hypertension ORPHA:251004
Scorpion Envenomation
Arrhythmia, Premature ventricular contraction, Congestive heart failure, T-wave inversion, Cardio... ORPHA:466677
Porphyria Variegata
Tachycardia, Hypertension ORPHA:79473
Spondyloenchondrodysplasia
Raynaud phenomenon, Vasculitis, Hypertension ORPHA:1855
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Hypovolemia, Aortic regurgitation, Abnormal left ventricular function, Transient ischemic attack,... ORPHA:91387
Hereditary Pheochromocytoma-Paraganglioma
Sinus tachycardia, Congestive heart failure, Hypertension associated with pheochromocytoma, Palpi... ORPHA:29072
Cushing Syndrome Due To Ectopic Acth Secretion
Weight loss, Pulmonary carcinoid tumor, Medullary thyroid carcinoma, Increased urinary cortisol l... ORPHA:99889
Aorta Coarctation
Pulmonary arterial hypertension, Hypertension, Congestive heart failure ORPHA:1457
Alagille Syndrome
Telangiectasia of the skin, Hypertension ORPHA:52
Telangiectasia, Hereditary Hemorrhagic, Type 2
Hematochezia, Nail bed telangiectasia, Fingerpad telangiectases, Spontaneous, recurrent epistaxis... OMIM:600376
Acquired Generalized Lipodystrophy
Cardiomyopathy, Abnormal cardiovascular system physiology, Hypertension ORPHA:79086
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hypertension ORPHA:449291
Crimean-Congo Hemorrhagic Fever
Subconjunctival hemorrhage, Hemoperitoneum, Diffuse alveolar hemorrhage, Abnormal left ventricula... ORPHA:99827
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Congestive heart failure, Hypertension, Mitral regurgitation, Intracranial... ORPHA:363618
Familial Dysautonomia
Tachycardia, Orthostatic hypotension, Hypertension ORPHA:1764
Livedoid Vasculopathy
Telangiectasia of the skin, Hypertension, Ischemic stroke ORPHA:542643
Fabry Disease
Mucosal telangiectasiae, Arrhythmia, Congestive heart failure, Bundle branch block, Hypertrophic ... ORPHA:324
Autosomal Dominant Dopa-Responsive Dystonia
Hypertension ORPHA:98808
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Granulomatous coronary arteritis, Hypertension OMIM:108050
Renal Hypoplasia
Hypertension ORPHA:93101
Low Phospholipid-Associated Cholelithiasis
Hypertension ORPHA:69663
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hypertension OMIM:616914
Pituitary Adenoma 4, Acth-Secreting
Hypertension OMIM:219090
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hypertension ORPHA:1555
Classic Homocystinuria
Gastrointestinal hemorrhage, Pulmonary embolism, Hypertension, Cerebral ischemia, Intracranial he... ORPHA:394
Beare-Stevenson Cutis Gyrata Syndrome
Hypertension OMIM:123790
Igg4-Related Retroperitoneal Fibrosis
Large vessel vasculitis, Renovascular hypertension, Hypertension, Budd-Chiari syndrome ORPHA:49041
Gaisböck Syndrome
Hypovolemia, Elevated diastolic blood pressure, Myocardial infarction, Hypertension, Angina pectoris ORPHA:90041
Sickle Cell Anemia
Hypertension OMIM:603903
Fragile X-Associated Tremor/Ataxia Syndrome
Hypotension, Hypertension ORPHA:93256
Nestor-Guillermo Progeria Syndrome
Sinus tachycardia, Right bundle branch block, Pulmonary arterial hypertension, Hypertension, Mitr... OMIM:614008
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hypertension OMIM:235400
Werner Syndrome
Telangiectasia of the skin, Hypertension, Myocardial infarction, Congestive heart failure ORPHA:902
Denys-Drash Syndrome
Hypertension OMIM:194080
Alexander Disease
Hypotension, Hypertension, Sudden cardiac death ORPHA:58
Hurler Syndrome
Angina pectoris, Hypertension, Cardiomyopathy ORPHA:93473
Von Hippel-Lindau Disease
Arrhythmia, Abnormal left ventricular function, Myocardial infarction, Myocarditis, Hypertension,... ORPHA:892
Paragangliomas 4
Palpitations, Hypertension associated with pheochromocytoma, Tachycardia OMIM:115310
Galloway-Mowat Syndrome 3
Hypertension OMIM:617729
Apert Syndrome
Hypertension ORPHA:87
Nephronophthisis-Like Nephropathy 1
Hypertension OMIM:613159
Granulomatosis With Polyangiitis
Recurrent intrapulmonary hemorrhage, Gastrointestinal hemorrhage, Arrhythmia, Vasculitis, Hyperte... ORPHA:900
Cockayne Syndrome Type 1
Hypertension ORPHA:90321
Posterior Urethral Valve
Hypertension ORPHA:93110
Xfe Progeroid Syndrome
Hypertension OMIM:610965
Acute Intermittent Porphyria
Tachycardia, Hypertension ORPHA:79276
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Dilated cardiomyopathy, Portal hypertension, Vasculitis, Hypertension, Raynaud phenomenon OMIM:615688
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Intracranial hemorrhage, Hypertension ORPHA:90795
Alport Syndrome 3, Autosomal Dominant
Hypertension OMIM:104200
Hallermann-Streiff Syndrome
Pulmonary arterial hypertension, Telangiectasia, Hypertension OMIM:234100
Bardet-Biedl Syndrome 1
Hypertension OMIM:209900
Alport Syndrome 1, X-Linked
Hypertension OMIM:301050
Renal Agenesis
Hypertension ORPHA:411709
Neuroendocrine Neoplasm Of Appendix
Increased serum serotonin, Intestinal carcinoid, Adrenocorticotropic hormone excess, Primary hype... ORPHA:100079
Tsh-Secreting Pituitary Adenoma
Congestive heart failure, Hypotension, Ventricular arrhythmia, Hypertension, Palpitations, Suprav... ORPHA:91347
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Pulmonary embolism, Hypertension ORPHA:567546
Seckel Syndrome 10
Hypertension, Congestive heart failure OMIM:617253
Lead Poisoning
Hypertension ORPHA:330015
Alkaptonuria
Hypertension, Myocardial infarction ORPHA:56
Carey-Fineman-Ziter Syndrome
Hypertensive crisis ORPHA:1358
Senior-Boichis Syndrome
Portal hypertension, Hypertension ORPHA:84081
Marshall-Smith Syndrome
Pulmonary arterial hypertension, Hypertension, Premature ventricular contraction OMIM:602535
Prader-Willi Syndrome
Hypertension ORPHA:739
Blau Syndrome
Hypertension, Pericarditis OMIM:186580
Multisystemic Smooth Muscle Dysfunction Syndrome
Pulmonary arterial hypertension, Hypertension OMIM:613834
Homozygous Familial Hypercholesterolemia
Abnormal left ventricular function, Sudden cardiac death, Myocardial infarction, Supravalvular ao... ORPHA:391665
Postinfectious Vasculitis
Vasculitis in the skin, Cerebral vasculitis, Hypertension, Cardiomyopathy, Raynaud phenomenon, Is... ORPHA:48435
Alport Syndrome
Hypertension ORPHA:63
Von Hippel-Lindau Syndrome
Hypertension OMIM:193300
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypertension, Myocardial infarction ORPHA:90038
Hunter-Macdonald Syndrome
Mitral regurgitation, Hypertension, Aortic regurgitation OMIM:611962
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypertension ORPHA:90793
Scalp-Ear-Nipple Syndrome
Hypertension OMIM:181270
Hutchinson-Gilford Progeria Syndrome
Left ventricular systolic dysfunction, Left ventricular diastolic dysfunction, Aortic valve steno... ORPHA:740
Familial Osteodysplasia, Anderson Type
Hypertension ORPHA:2769
Carney Complex
Papillary thyroid carcinoma, Increased serum insulin-like growth factor 1, Elevated circulating g... ORPHA:1359
Infection-Related Hemolytic Uremic Syndrome
Hypertensive crisis, Hypertension, Myocarditis ORPHA:544482
Myhre Syndrome
Hypertension ORPHA:2588
Acute Transverse Myelitis
Subarachnoid hemorrhage, Orthostatic hypotension, Hypertension ORPHA:139417
Pseudohypoparathyroidism Type 1A
Prolonged QT interval, Hypertension ORPHA:79443
Lipodystrophy, Familial Partial, Type 2
Hypertension OMIM:151660
Cockayne Syndrome B
Hypertension, Arrhythmia OMIM:133540
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypertension ORPHA:95699
Cockayne Syndrome A
Hypertension, Arrhythmia OMIM:216400
Orofaciodigital Syndrome I
Hypertension OMIM:311200
Mucopolysaccharidosis Type 2, Severe Form
Heart murmur, Cardiomyopathy, Hypertension, Arrhythmia ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Heart murmur, Cardiomyopathy, Hypertension, Arrhythmia ORPHA:217093
Adams-Oliver Syndrome 1
Pulmonary arterial hypertension, Aortic valve stenosis, Hypertension, Pulmonic stenosis OMIM:100300
Immunodeficiency 87 And Autoimmunity
Pulmonary arterial hypertension, Dilated cardiomyopathy, Third degree atrioventricular block, Hyp... OMIM:619573
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertension, Pulmonary venous hypertension, Epistaxis ORPHA:79259
Cranioectodermal Dysplasia 2
Hypertension OMIM:613610
Xq21 Microdeletion Syndrome
Hypertension ORPHA:1435
Mucopolysaccharidosis Type 2
Cardiomyopathy, Hypertension, Arrhythmia ORPHA:580
Scalp-Ear-Nipple Syndrome
Hypertension ORPHA:2036
Myhre Syndrome
Aortic valve stenosis, Hypertension OMIM:139210
Orofaciodigital Syndrome Type 1
Hypertension ORPHA:2750
Cockayne Syndrome
Hypertension, Retinal hemorrhage ORPHA:191
Multiple Endocrine Neoplasia Type 2
Hypertensive crisis, Hypertension associated with pheochromocytoma, Palpitations ORPHA:653
Somatomammotropinoma
Mitral regurgitation, Hypertrophic cardiomyopathy, Hypertension ORPHA:314769
Acromegaly
Mitral regurgitation, Hypertrophic cardiomyopathy, Hypertension ORPHA:963
Hardikar Syndrome
Hematemesis, Portal hypertension, Hypertension OMIM:301068
Autosomal Recessive Polycystic Kidney Disease
Portal hypertension, Hypertension, Gastrointestinal hemorrhage ORPHA:731
Pierson Syndrome
Hypertension, Retinal hemorrhage OMIM:609049
Williams Syndrome
Mitral regurgitation, Congestive heart failure, Hypertrophic cardiomyopathy, Sudden cardiac death... ORPHA:904
Tuberous Sclerosis Complex
Hypertension, Internal hemorrhage ORPHA:805
Atypical Werner Syndrome
Aortic valve stenosis, Telangiectasia of the skin, Hypertension, Congestive heart failure ORPHA:79474
Yunis-Varon Syndrome
Pulmonary arterial hypertension, Cardiomyopathy, Renovascular hypertension, Hypertension ORPHA:3472
Lipodystrophy, Familial Partial, Type 7
Pulmonary arterial hypertension, Orthostatic hypotension, Hypertension OMIM:606721
Neurofibromatosis, Type I
Hypertension OMIM:162200
Renal Dysplasia
Hypertension ORPHA:93108
Keutel Syndrome
Hypertension, Pulmonic stenosis OMIM:245150
22Q11.2 Deletion Syndrome
Hypertensive crisis, Corneal neovascularization, Gastrointestinal hemorrhage ORPHA:567
Turner Syndrome Due To Structural X Chromosome Anomalies
Prolonged QT interval, Hypertension, Myocardial infarction ORPHA:99413
Turner Syndrome
Prolonged QT interval, Hypertension, Myocardial infarction ORPHA:881
Mosaic Monosomy X
Prolonged QT interval, Hypertension, Myocardial infarction ORPHA:99228
Monosomy X
Prolonged QT interval, Hypertension, Myocardial infarction ORPHA:99226
Blau Syndrome
Pulmonary arterial hypertension, Hypertension, Large vessel vasculitis, Pericarditis ORPHA:90340
17Q11 Microdeletion Syndrome
Hypertrophic cardiomyopathy, Pulmonic stenosis, Pulmonary arterial hypertension, Telangiectasia o... ORPHA:97685
Paroxysmal Nocturnal Hemoglobinuria
Pulmonary embolism, Hypertension, Budd-Chiari syndrome, Myocardial infarction ORPHA:447
Neurofibromatosis Type 1
Hypertension ORPHA:636
Congenital Disorder Of Glycosylation, Type Iim
Hypertension OMIM:300896
Generalized Arterial Calcification Of Infancy
Left ventricular systolic dysfunction, Retinal hemorrhage, Pulmonary arterial hypertension, Trans... ORPHA:51608
Williams-Beuren Syndrome
Portal hypertension, Supravalvular aortic stenosis, Pulmonic stenosis, Hypertension, Mitral regur... OMIM:194050
Vascular Ehlers-Danlos Syndrome
Telangiectasia of the skin, Transient ischemic attack, Renovascular hypertension, Hypertension, I... ORPHA:286
Alström Syndrome
Abnormal coronary artery physiology, Dilated cardiomyopathy, Portal hypertension, Congestive hear... 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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