Reactome | Defective EXT2 causes exostoses 2

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Defective EXT2 causes exostoses 2 Show undefined attributes

authored	[InstanceEdit:3656262] Jassal, B, 2013-05-31
created	[InstanceEdit:3656245] Jassal, B, 2013-05-31
crossReference	[DatabaseIdentifier:12020884] Mondo:0005508
dbId	3656237
disease	[Disease:3656226] hereditary multiple exostoses
displayName	Defective EXT2 causes exostoses 2
edited	[InstanceEdit:3656245] Jassal, B, 2013-05-31
eventOf	[Pathway:R-HSA-3560782] Diseases associated with glycosaminoglycan metabolism - Homo sapiens
hasDiagram	true
hasEHLD	false
hasEvent	[FailedReaction:R-HSA-3656267] Defective EXT2 (in EXT1:EXT2) does not transfer GlcA to heparan - Homo sapiens [FailedReaction:R-HSA-3656254] Defective EXT2 (in EXT1:EXT2) does not transfer GlcNAc to the heparan chain - Homo sapiens [FailedReaction:R-HSA-9036289] Defective EXT2 (in EXT1:EXT2) does not transfer GlcA to heparan - Homo sapiens
isInDisease	true
isInferred	false
lastUpdatedDate	2023-06-07
literatureReference	[LiteratureReference:3702176] Multiple hereditary osteochondromata [LiteratureReference:3702175] WAGR syndrome and multiple exostoses in a patient with del(11)(p11.2p14.2)
maxDepth	2
modified	[InstanceEdit:9953280] Stephan, Ralf, 2025-06-02
name	Defective EXT2 causes exostoses 2
normalPathway	[Pathway:R-HSA-2022928] HS-GAG biosynthesis
previousReviewStatus	[ReviewStatus:9821385] four stars
releaseDate	2014-09-30
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:5607064] Spillmann, Dorothe, 2014-07-09 [InstanceEdit:9953258] Matthews, Lisa, 2025-05-30
schemaClass	Pathway
species	[Species:48887] Homo sapiens
stId	R-HSA-3656237
summation	[Summation:3702171] Heparan sulfate (HS) is involved in regulating various body ...
updateTrackers	[UpdateTracker:9785039] Update Tracker - [Pathway:3656237] Defective EXT2 causes exostoses 2 - v52:[removeHasEvent] [UpdateTracker:9779953] Update Tracker - [Pathway:3656237] Defective EXT2 causes exostoses 2 - v64:[addHasEvent, updateContainedRLE] [UpdateTracker:9835774] Update Tracker - [Pathway:3656237] Defective EXT2 causes exostoses 2 - v85:[updateContainedRLE] [UpdateTracker:9953749] Update Tracker - [Pathway:3656237] Defective EXT2 causes exostoses 2 - v93:[addHasEvent] [UpdateTracker:9777890] Update Tracker - [Pathway:3656237] Defective EXT2 causes exostoses 2 - v68:[updateContainedRLE]

Referrals

(updatedInstance)

[UpdateTracker:9785039] Update Tracker - [Pathway:3656237] Defective EXT2 causes exostoses 2 - v52:[removeHasEvent]
[UpdateTracker:9779953] Update Tracker - [Pathway:3656237] Defective EXT2 causes exostoses 2 - v64:[addHasEvent, updateContainedRLE]
[UpdateTracker:9835774] Update Tracker - [Pathway:3656237] Defective EXT2 causes exostoses 2 - v85:[updateContainedRLE]
[UpdateTracker:9953749] Update Tracker - [Pathway:3656237] Defective EXT2 causes exostoses 2 - v93:[addHasEvent]
[UpdateTracker:9777890] Update Tracker - [Pathway:3656237] Defective EXT2 causes exostoses 2 - v68:[updateContainedRLE]

(hasEvent)

[Pathway:R-HSA-3560782] Diseases associated with glycosaminoglycan metabolism