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Defective CYP11A1 causes AICSR Show undefined attributes

authored

[InstanceEdit:5579003] Jassal, Bijay, 2014年06月06日

created [InstanceEdit:5579003] Jassal, Bijay, 2014年06月06日

crossReference

[DatabaseIdentifier:11945001] Mondo:0013400

dbId 5579026

disease

[Disease:5580265] congenital adrenal insufficiency

displayName Defective CYP11A1 causes AICSR

edited

[InstanceEdit:5579003] Jassal, Bijay, 2014年06月06日

eventOf

[Pathway:R-HSA-5579029] Metabolic disorders of biological oxidation enzymes - Homo sapiens

hasDiagram true

hasEHLD false

hasEvent

[FailedReaction:R-HSA-5580269] Defective CYP11A1 does not cleave 20a,22b-DHCHOL - Homo sapiens

isInDisease true

isInferred false

lastUpdatedDate 2017年09月27日

literatureReference

[LiteratureReference:5580276] Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc

maxDepth 2

modified [InstanceEdit:9847082] Weiser, Joel, 2023年10月12日

name

Defective CYP11A1 causes AICSR
Defective CYP11A1 causes Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR)

normalPathway [Pathway:R-HSA-211945] Phase I - Functionalization of compounds

releaseDate 2014年12月11日

reviewStatus [ReviewStatus:9821382] five stars

reviewed

[InstanceEdit:5634119] Nakaki, Toshio, 2014年11月03日

schemaClass Pathway

species

[Species:48887] Homo sapiens

stId R-HSA-5579026

summation

[Summation:5580239] Cholesterol side-chain cleavage enzyme, mitochondrial (CYP11...

updateTrackers

Referrals

(updatedInstance)

(hasEvent)

[Pathway:R-HSA-5579029] Metabolic disorders of biological oxidation enzymes

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