Reactome | MPS IX - Natowicz syndrome

Schema > Pathway > Entries

authored	[InstanceEdit:2206283] Jassal, B, 2012-04-26
created	[InstanceEdit:2206283] Jassal, B, 2012-04-26
dbId	2206280
disease	[Disease:2226052] mucopolysaccharidosis
displayName	MPS IX - Natowicz syndrome
edited	[InstanceEdit:2206283] Jassal, B, 2012-04-26
eventOf	[Pathway:R-HSA-2206281] Mucopolysaccharidoses - Homo sapiens
hasDiagram	true
hasEHLD	false
hasEvent	[FailedReaction:R-HSA-2318585] Defective HYAL1 does not hydrolyse Chondroitin chains - Homo sapiens [FailedReaction:R-HSA-9036077] Defective HYAL1 does not hydrolyse (HA)50 - Homo sapiens
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:2318592] Clinical and biochemical manifestations of hyaluronidase deficiency [LiteratureReference:2318602] Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX
modified	[InstanceEdit:9847082] Weiser, Joel, 2023-10-12
name	MPS IX - Natowicz syndrome
normalPathway	[Pathway:R-HSA-1630316] Glycosaminoglycan metabolism
releaseDate	2012-09-18
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:2457644] Coutinho, Maria, 2012-08-27 [InstanceEdit:2457645] Alves, Sandra, 2012-08-27
schemaClass	Pathway
species	[Species:48887] Homo sapiens
stId	R-HSA-2206280
summation	[Summation:2318596] Mucopolysaccharidosis type IX (MPS IX, Natowicz syndrome, Hy...

(hasEvent)