Reactome | Defective CYP17A1 causes AH5

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Defective CYP17A1 causes AH5 Show undefined attributes

authored	[InstanceEdit:5579003] Jassal, Bijay, 2014-06-06
created	[InstanceEdit:5579003] Jassal, Bijay, 2014-06-06
crossReference	[DatabaseIdentifier:12020854] Mondo:0005495
dbId	5579028
disease	[Disease:5600600] adrenal gland disease
displayName	Defective CYP17A1 causes AH5
edited	[InstanceEdit:5579003] Jassal, Bijay, 2014-06-06
eventOf	[Pathway:R-HSA-5579029] Metabolic disorders of biological oxidation enzymes - Homo sapiens
hasDiagram	true
hasEHLD	false
hasEvent	[FailedReaction:R-HSA-5601843] Defective CYP17A1 does not 17-hydroxylate PREG - Homo sapiens [FailedReaction:R-HSA-9035954] Defective CYP17A1 does not 17-hydroxylate P4 - Homo sapiens [FailedReaction:R-HSA-9035956] Defective CYP17A1 does not cleave 17aHPROG - Homo sapiens
isInDisease	true
isInferred	false
lastUpdatedDate	2019-03-25
literatureReference	[LiteratureReference:5601783] Structural characterization of normal and mutant human steroid 17 alpha-hydroxylase genes: molecular basis of one example of combined 17 alpha-hydroxylase/17,20 lyase deficiency [LiteratureReference:5601856] P450 oxidoreductase deficiency: a new form of congenital adrenal hyperplasia [LiteratureReference:5601840] Disorders of steroid 17 alpha-hydroxylase deficiency [LiteratureReference:5601763] Molecular basis of 17?-hydroxylase/17,20-lyase deficiency [LiteratureReference:5601787] The syndrome of 17,20 lyase deficiency
maxDepth	2
modified	[InstanceEdit:9847082] Weiser, Joel, 2023-10-12
name	Defective CYP17A1 causes AH5 Defective CYP17A1 causes Adrenal hyperplasia 5 (AH5)
normalPathway	[Pathway:R-HSA-196071] Metabolism of steroid hormones
releaseDate	2014-12-11
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:5634119] Nakaki, Toshio, 2014-11-03
schemaClass	Pathway
species	[Species:48887] Homo sapiens
stId	R-HSA-5579028
summation	[Summation:5601768] Steroid 17-alpha-hydroxylase/17,20 lyase (CYP17A1) mediates ...
updateTrackers	[UpdateTracker:9778408] Update Tracker - [Pathway:5579028] Defective CYP17A1 causes AH5 - v68:[updateContainedRLE] [UpdateTracker:9780071] Update Tracker - [Pathway:5579028] Defective CYP17A1 causes AH5 - v64:[addHasEvent, updateContainedRLE] [UpdateTracker:9785499] Update Tracker - [Pathway:5579028] Defective CYP17A1 causes AH5 - v52:[removeHasEvent]

Referrals

(updatedInstance)	[UpdateTracker:9778408] Update Tracker - [Pathway:5579028] Defective CYP17A1 causes AH5 - v68:[updateContainedRLE] [UpdateTracker:9780071] Update Tracker - [Pathway:5579028] Defective CYP17A1 causes AH5 - v64:[addHasEvent, updateContainedRLE] [UpdateTracker:9785499] Update Tracker - [Pathway:5579028] Defective CYP17A1 causes AH5 - v52:[removeHasEvent]
(hasEvent)	[Pathway:R-HSA-5579029] Metabolic disorders of biological oxidation enzymes