Mitochondria Phenome Knowledgebase

Gene Symbol CYP11B1
Ensembl ID ENSG00000160882 Entrez 1584
Gene Alias CPN1; CYP11B; DKFZp686B05283; FHI; FLJ36771; P450C11 Subcellular Locations Mitochondria Mitochondrial-inner-membrane
Map Position 8q21 Subcell PMIDs 2592361
OMIM Gene 610613 Protein Complex
Swissprot ID P15538 Swissprot Description Cytochrome P450 11B1, mitochondrial precursor
OMIM Disease Familial Hyperaldosteronism type I (FH1) [103900]; Adrenal hyperplasia type IV (AH IV) [202010]

Gene-Feature associations that are associated with 1 Gene

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
CYP11B1 202010 Musculoskeletal-diseases musculoskeletal #8506298 #8768848 #9302260 #9435454 #11095433 #15755848 #16030166
CYP11B1 202010 Bone-diseases musculoskeletal #8506298 #8768848 #9302260 #9435454 #11095433 #15755848 #16030166
CYP11B1 202010 Bone-age-abnormal advanced; accelerated bone age musculoskeletal 8506298 8768848 9302260 9435454 11095433 15755848 16030166
CYP11B1 103900 Nervous-system-diseases neurologic #9453343
CYP11B1 202010 Nervous-system-diseases neurologic #11095433
CYP11B1 103900 Central-nervous-system-diseases neurologic #9453343
CYP11B1 202010 Central-nervous-system-diseases neurologic #11095433
CYP11B1 103900 Brain-diseases neurologic #9453343
CYP11B1 202010 Brain-diseases neurologic #11095433
CYP11B1 103900 Cerebrovascular-disorders neurologic #9453343
CYP11B1 202010 Cerebrovascular-disorders neurologic #11095433
CYP11B1 103900 Intracranial-aneurysm ruptured intracranial aneurysms; aneurysm neurologic 9453343
CYP11B1 103900 Intracranial-hemorrhages hemorrhagic strokes; cerebrovascular complications neurologic 9453343
CYP11B1 202010 Intracranial-hemorrhages brain hemorrhage neurologic 11095433
CYP11B1 202010 Headache-disorders related to hypertension neurologic 11095433
CYP11B1 202010 Eye-diseases ophthalmologic #11095433
CYP11B1 202010 Vision-disorders blurred vision; vision loss; related to hypertension ophthalmologic 11095433
CYP11B1 103900 Genitourinary-diseases genitourinary #10679515
CYP11B1 202010 Genitourinary-diseases genitourinary #1430088
CYP11B1 202010 Urogenital-abnormalities genitourinary #1430088
CYP11B1 202010 Hypospadias penis with hypospadia genitourinary 1430088
CYP11B1 103900 Female-genital-diseases genitourinary #10679515
CYP11B1 103900 Pregnancy-complications obstetric risks; preeclampsia; pregnancy aggravated hypertension; lower birth weights genitourinary 10679515
CYP11B1 103900 Cardiovascular-diseases cardiovascular #1731223 #7550315 #7593610 #10679515 #12107222
CYP11B1 202010 Cardiovascular-diseases cardiovascular #1430088 #2022736 #7488170 #8506298 #8768848 #9302260 #9435454 #11095433 #15755848 #16030166
CYP11B1 202010 Heart-diseases cardiovascular #11095433
CYP11B1 202010 Cardiomyopathy hypertrophic; ventricular cardiovascular 11095433
CYP11B1 103900 Vascular-diseases cardiovascular #1731223 #7550315 #7593610 #10679515 #12107222
CYP11B1 202010 Vascular-diseases cardiovascular #1430088 #2022736 #7488170 #8506298 #8768848 #9302260 #9435454 #11095433 #15755848 #16030166
CYP11B1 202010 Embolism-and-thrombosis central retinal vein occlusion; mixed venous and arterial occlusion; macular microhemorrhagia cardiovascular 11095433
CYP11B1 103900 Hypertension blood pressure elevated cardiovascular 1731223 7550315 7593610 10679515 12107222
CYP11B1 202010 Hypertension arterial; deoxycorticosterone related cardiovascular 1430088 2022736 7488170 8506298 8768848 9302260 9435454 11095433 15755848 16030166
CYP11B1 202010 Skin-diseases dermatologic #8768848 #14682466 #16030166
CYP11B1 202010 Gynecomastia dermatologic 8768848 14682466 16030166
CYP11B1 202010 Hair-diseases dermatologic #8768848
CYP11B1 202010 Hirsutism dermatologic 8768848
CYP11B1 202010 Pigmentation-disorders dermatologic #16030166
CYP11B1 202010 Hyperpigmentation dermatologic 16030166
CYP11B1 103900 Metabolic-diseases metabolic #1731223 #7550315 #7593610 #12107222
CYP11B1 202010 Metabolic-diseases metabolic #2022736 #7488170 #8506298 #9435454 #11095433 #15755848
CYP11B1 202010 Water-electrolyte-imbalance metabolic #2022736 #7488170 #8506298 #11095433
CYP11B1 202010 Hypernatremia sodium levels elevated; sodium retention; related to corticosterone metabolic 8506298
CYP11B1 202010 Hypokalemia potassium levels decreased; low normal metabolic 2022736 7488170 11095433
CYP11B1 202010 Obesity metabolic 15755848
CYP11B1 103900 Hyporeninemia renin levels decreased; Plasma renin activity (PRA) abnormal metabolic 1731223 7550315 7593610 12107222
CYP11B1 202010 Hyporeninemia renin levels decreased; failure of furosemide or low sodium diet to stimulate plasma renin activity; Plasma renin activity (PRA) abnormal metabolic 2022736 9435454 11095433
CYP11B1 103900 Endocrine-system-diseases endocrinologic #1731223 #7550315 #7593610 #10679515 #12107222
CYP11B1 202010 Endocrine-system-diseases endocrinologic #1430088 #2022736 #7488170 #8506298 #8768848 #9302260 #9435454 #11095433 #14682466 #15755848 #16030166
CYP11B1 103900 Adrenal-gland-diseases endocrinologic #1731223 #7550315 #7593610 #10679515 #12107222
CYP11B1 202010 Adrenal-gland-diseases adrenogenital disease; hyperandrogenism endocrinologic #1430088 #2022736 #7488170 #8506298 8768848 #9302260 #9435454 11095433 #14682466 #15755848 #16030166
CYP11B1 103900 Adrenal-gland-neoplasms endocrinologic #1731223 #7550315 #7593610
CYP11B1 103900 Adrenocortical-adenoma multiple; adrenocortical tumor; adrenal tumor; alosteron producing endocrinologic 1731223 7550315 7593610
CYP11B1 103900 Adrenal-hyperplasia micronodular hyperplasia endocrinologic 1731223 7550315 7593610
CYP11B1 202010 Adrenal-hyperplasia congenital; adrenal hyperplasia; adrenocortical hyperplasia endocrinologic 1430088 2022736 7488170 11095433 14682466 15755848 16030166
CYP11B1 202010 Adrenal-insufficiency cortisol production impaired; failure to convert 11 deoxycortisol to cortisol endocrinologic #1430088 #2022736 8506298 #8768848 #9302260 #9435454 #11095433 #15755848 #16030166
CYP11B1 202010 Hypoaldosteronism aldosteron levels decreased; aldosteron suppressed endocrinologic 2022736 11095433
CYP11B1 202010 Hypocortisolism cortisol deficiency; elevated 18 oxocortisol; elevated 18 hydrocortisol; elevated 11 deoxycortisol endocrinologic 1430088 2022736 8506298 8768848 9302260 9435454 15755848 16030166
CYP11B1 103900 Adrenocortical-hyperfunction endocrinologic #1731223 #7550315 #7593610 #10679515 #12107222
CYP11B1 103900 Hyperaldosteronism aldosteron levels elevated; glucocorticoid remediable aldosteronism endocrinologic 1731223 7550315 7593610 10679515 12107222
CYP11B1 103900 Cortisol-derivatives-abnormal 18 oxocortisol elevated; 18 hydroxycortisol elevated endocrinologic 1731223 7550315 7593610 12107222
CYP11B1 202010 Corticosterone-levels-abnormal elevated; mineralcorticoid activity; sodium retaining activity endocrinologic 8506298 11095433 14682466
CYP11B1 202010 Gonadal-disorders endocrinologic #1430088 #2022736 #7488170 #8768848 #9302260 #9435454 #11095433 #14682466 #15755848 #16030166
CYP11B1 202010 Precocious-puberty male precocious puberty; precocious pseudopuberty endocrinologic 2022736 7488170 9302260 11095433 16030166
CYP11B1 202010 Sex-differentiation-disorders genital virilization; masculinized external genitalia; precocious adrenarche; scrotum lacking palpable testes; precocious thelarche; clitoris enlargement; posterior labial fusion; penile enlargement; ambiguous genitalia in females; intersexual genitalia; genital hyperplasia endocrinologic 1430088 2022736 7488170 8768848 9302260 9435454 11095433 14682466 15755848 16030166
CYP11B1 202010 Hermaphroditism pseudohermaphroditism; stage IV of Prader; pseudoprecocious puberty endocrinologic 11095433
CYP11B1 202010 Hyperandrogenism testosteron elevated; 17 hydroxyprogesterone elevated; androgen excess; androstenedione elevated; acne vulgaris endocrinologic 1430088 2022736 9302260 9435454 14682466 15755848 16030166
CYP11B1 202010 Pituitary-diseases endocrinologic #2022736 #7488170 #8506298 #9302260 #11095433 #15755848
CYP11B1 202010 Hyperpituitarism corticotropin levels abnormal; ACTH elevated endocrinologic 2022736 7488170 8506298 9302260 11095433 15755848
CYP11B1 202010 Growth-disorders miscellaneous #2022736 #7488170 #8506298 #9302260 #9435454 #14682466
CYP11B1 202010 Growth-deficiency accelerated; male precocious puberty; premature epiphyseal closure; short stature miscellaneous 2022736 7488170 8506298 9302260 9435454
CYP11B1 202010 Growth-accelerated growth acceleration miscellaneous 9435454 14682466
CYP11B1 202010 Dysmorphism-and-abnormalities situs inversus viscerum totalis; dextrocardia; interrupted inferior vena cava with vena azygos continuation miscellaneous 15755848

©2006-2009 Stanford Genome Technology Center, Stanford University | Webmastercreative commons