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Defective CYP11A1 causes AICSR
Stable Identifier
R-HSA-5579026
Type
Pathway
Species
Homo sapiens
Synonyms
Defective CYP11A1 causes Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR)
ReviewStatus
5/5
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Diseases of metabolism (Homo sapiens)
Metabolic disorders of biological oxidation enzymes (Homo sapiens)
Defective CYP11A1 causes AICSR (Homo sapiens)
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Cholesterol side-chain cleavage enzyme, mitochondrial (CYP11A1) normally catalyses the side-chain cleavage of cholesterol to form pregnenolone. Defects in CYP11A1 can cause Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR; MIM:613743). This is a rare disorder that can present as acute adrenal insufficiency in infancy with elevated ACTH and plasma renin activity and low or absent adrenal steroids. The severest phenotype is loss-of-function mutations associated with prematurity, complete under-androgenisation and severe, early-onset adrenal failure (Kim et al. 2008).
Literature References
PubMed ID
Title
Journal
Year
18182448
Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc
Huang, N
,
Achermann, JC
,
Quigley, CA
,
Miller, WL
,
AvRuskin, TW
,
Lin, L
,
Kim, CJ
J. Clin. Endocrinol. Metab.
2008
Participants
Events
Defective CYP11A1 does not cleave 20a,22b-DHCHOL
(Homo sapiens)
Participates
as an event of
Metabolic disorders of biological oxidation enzymes (Homo sapiens)
Disease
Name
Identifier
Synonyms
congenital adrenal insufficiency
DOID:0050546
ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE, P450scc DEFICIENCY
Authored
Jassal, B (2014-06-06)
Reviewed
Nakaki, T (2014-11-03)
Created
Jassal, B (2014-06-06)
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