Reactome | Diseases associated with glycosaminoglycan metabolism

Schema > Pathway > Entries

Diseases associated with glycosaminoglycan metabolism Show undefined attributes

authored	[InstanceEdit:3560797] Jassal, B, 2013-05-21
created	[InstanceEdit:3560797] Jassal, B, 2013-05-21
crossReference	[DatabaseIdentifier:12020874] Mondo:0015286
dbId	3560782
disease	[Disease:3781877] congenital disorder of glycosylation
displayName	Diseases associated with glycosaminoglycan metabolism
doi	10.3180/REACT_267707.1
edited	[InstanceEdit:3560797] Jassal, B, 2013-05-21
eventOf	[Pathway:R-HSA-3781865] Diseases of glycosylation - Homo sapiens
figure	[Figure:9758318] /figures/ehld/R-HSA-3560782.svg
hasDiagram	true
hasEHLD	true
hasEvent	[Pathway:R-HSA-3560792] Defective SLC26A2 causes chondrodysplasias - Homo sapiens [Pathway:R-HSA-3560796] Defective PAPSS2 causes SEMD-PA - Homo sapiens [Pathway:R-HSA-3560783] Defective B4GALT7 causes EDS, progeroid type - Homo sapiens [Pathway:R-HSA-3560801] Defective B3GAT3 causes JDSSDHD - Homo sapiens [Pathway:R-HSA-3595177] Defective CHSY1 causes TPBS - Homo sapiens [Pathway:R-HSA-3595172] Defective CHST3 causes SEDCJD - Homo sapiens [Pathway:R-HSA-3595174] Defective CHST14 causes EDS, musculocontractural type - Homo sapiens [Pathway:R-HSA-3656244] Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) - Homo sapiens [Pathway:R-HSA-3656225] Defective CHST6 causes MCDC1 - Homo sapiens [Pathway:R-HSA-3656253] Defective EXT1 causes exostoses 1, TRPS2 and CHDS - Homo sapiens [Pathway:R-HSA-3656237] Defective EXT2 causes exostoses 2 - Homo sapiens [Pathway:R-HSA-3656234] Defective HEXA causes GM2G1 (Hyaluronan metabolism) - Homo sapiens [Pathway:R-HSA-3656248] Defective HEXB causes GM2G2 (Hyaluronan metabolism) - Homo sapiens [Pathway:R-HSA-3656243] Defective ST3GAL3 causes MCT12 and EIEE15 - Homo sapiens [Pathway:R-HSA-4420332] Defective B3GALT6 causes EDSP2 and SEMDJL1 - Homo sapiens
isInDisease	true
isInferred	false
lastUpdatedDate	2023-06-07
literatureReference	[LiteratureReference:3769476] Human genetic disorders caused by mutations in genes encoding biosynthetic enzymes for sulfated glycosaminoglycans
maxDepth	3
modified	[InstanceEdit:9847082] Weiser, Joel, 2023-10-12
name	Diseases associated with glycosaminoglycan metabolism
releaseDate	2014-09-30
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:5607064] Spillmann, Dorothe, 2014-07-09
schemaClass	Pathway
species	[Species:48887] Homo sapiens
stId	R-HSA-3560782
summation	[Summation:3769474] A number of genetic disorders are caused by mutations in the...
updateTrackers	[UpdateTracker:9782314] Update Tracker - [Pathway:3560782] Diseases associated with glycosaminoglycan metabolism - v59:[updateContainedPathway, updateIndirectRLE] [UpdateTracker:9785739] Update Tracker - [Pathway:3560782] Diseases associated with glycosaminoglycan metabolism - v51:[updateContainedPathway, updateIndirectRLE] [UpdateTracker:9778226] Update Tracker - [Pathway:3560782] Diseases associated with glycosaminoglycan metabolism - v68:[updateIndirectRLE] [UpdateTracker:9785263] Update Tracker - [Pathway:3560782] Diseases associated with glycosaminoglycan metabolism - v52:[updateContainedPathway] [UpdateTracker:9835776] Update Tracker - [Pathway:3560782] Diseases associated with glycosaminoglycan metabolism - v85:[updateIndirectRLE] [UpdateTracker:9779792] Update Tracker - [Pathway:3560782] Diseases associated with glycosaminoglycan metabolism - v64:[addHasEvent, updateContainedPathway, updateIndirectRLE] [UpdateTracker:9784121] Update Tracker - [Pathway:3560782] Diseases associated with glycosaminoglycan metabolism - v54:[addHasEvent]

Referrals

(updatedInstance)

(hasEvent)

[Pathway:R-HSA-3781865] Diseases of glycosylation

Cite Us!