Reactome | Defective CHSY1 causes TPBS

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Defective CHSY1 causes TPBS Show undefined attributes

authored	[InstanceEdit:3560797] Jassal, B, 2013-05-21
created	[InstanceEdit:3595173] Jassal, B, 2013-05-21
dbId	3595177
disease	[Disease:3656246] brachydactyly
displayName	Defective CHSY1 causes TPBS
edited	[InstanceEdit:3560797] Jassal, B, 2013-05-21
eventOf	[Pathway:R-HSA-3560782] Diseases associated with glycosaminoglycan metabolism - Homo sapiens
hasDiagram	true
hasEHLD	false
hasEvent	[FailedReaction:R-HSA-3595176] Defective CHSY1 does not transfer GalNAc to chondroitin - Homo sapiens [FailedReaction:R-HSA-3595178] Defective CHSY1 does not transfer GlcA to chondroitin - Homo sapiens
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:3621799] A new multiple congenital anomaly, mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies [LiteratureReference:3621735] A distinct autosomal recessive disorder of limb development with preaxial brachydactyly, phalangeal duplication, symphalangism and hyperphalangism [LiteratureReference:1971434] Loss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signaling [LiteratureReference:3769476] Human genetic disorders caused by mutations in genes encoding biosynthetic enzymes for sulfated glycosaminoglycans
modified	[InstanceEdit:9847082] Weiser, Joel, 2023-10-12
name	Defective CHSY1 causes TPBS Defective CHSY1 causes temtamy preaxial brachydactyly syndrome
normalPathway	[Pathway:R-HSA-1630316] 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-3595177
summation	[Summation:3621731] Chondroitin sulfate synthases (CHSY) are involved in the syn...

Referrals

(hasEvent)

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