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Entries
Defective CYP11B2 causes CMO-1 deficiency
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authored
[InstanceEdit:5579003] Jassal, Bijay, 2014-06-06
created
[InstanceEdit:5579003] Jassal, Bijay, 2014-06-06
crossReference
[DatabaseIdentifier:12020861] Mondo:0005523
dbId
5579009
disease
[Disease:3769465] steroid inherited metabolic disorder
displayName
Defective CYP11B2 causes CMO-1 deficiency
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-5600598] Defective CYP11B2 does not oxidise 11DCORST - Homo sapiens
[FailedReaction:R-HSA-6785244] Defective CYP11B2 does not oxidise 18HCORST - Homo sapiens
[FailedReaction:R-HSA-6785245] Defective CYP11B2 does not oxidise CORST - Homo sapiens
isInDisease
true
isInferred
false
lastUpdatedDate
2019-03-25
literatureReference
[LiteratureReference:5622016] Congenitally defective aldosterone biosynthesis in humans: inactivation of the P-450C18 gene (CYP11B2) due to nucleotide deletion in CMO I deficient patients
[LiteratureReference:5622025] The human steroid hydroxylases CYP1B1 and CYP11B2
maxDepth
2
modified
[InstanceEdit:9847082] Weiser, Joel, 2023-10-12
name
Defective CYP11B2 causes CMO-1 deficiency
Defective CYP11B2 causes Corticosterone methyloxidase 1 deficiency
normalPathway
[Pathway:R-HSA-211945] Phase I - Functionalization of compounds
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-5579009
summation
[Summation:5622020] Cytochrome P450 11B2, mitochondrial (CYP11B2 aka aldosterone...
updateTrackers
[UpdateTracker:9784891] Update Tracker - [Pathway:5579009] Defective CYP11B2 causes CMO-1 deficiency - v52:[removeHasEvent]
[UpdateTracker:9777833] Update Tracker - [Pathway:5579009] Defective CYP11B2 causes CMO-1 deficiency - v68:[updateContainedRLE]
[UpdateTracker:9784207] Update Tracker - [Pathway:5579009] Defective CYP11B2 causes CMO-1 deficiency - v54:[addHasEvent]
Referrals
(updatedInstance)
[UpdateTracker:9784891] Update Tracker - [Pathway:5579009] Defective CYP11B2 causes CMO-1 deficiency - v52:[removeHasEvent]
[UpdateTracker:9777833] Update Tracker - [Pathway:5579009] Defective CYP11B2 causes CMO-1 deficiency - v68:[updateContainedRLE]
[UpdateTracker:9784207] Update Tracker - [Pathway:5579009] Defective CYP11B2 causes CMO-1 deficiency - v54:[addHasEvent]
(hasEvent)
[Pathway:R-HSA-5579029] Metabolic disorders of biological oxidation enzymes
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