Reactome | MPS IX - Natowicz syndrome (CS/DS degradation)

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authored	[InstanceEdit:9953118] Stephan, Ralf, 2025-05-28
created	[InstanceEdit:9953099] Stephan, Ralf, 2025-05-28
crossReference	[DatabaseIdentifier:12020936] Mondo:0019249
dbId	9953097
disease	[Disease:2226052] mucopolysaccharidosis
displayName	MPS IX - Natowicz syndrome (CS/DS degradation)
edited	[InstanceEdit:9953122] Stephan, Ralf, 2025-05-28
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
isInDisease	true
isInferred	false
lastUpdatedDate	2023-06-07
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
maxDepth	2
modified	[InstanceEdit:9953205] Stephan, Ralf, 2025-05-29
name	MPS IX - Natowicz syndrome (CS/DS degradation)
normalPathway	[Pathway:R-HSA-2024101] CS/DS degradation
previousReviewStatus	[ReviewStatus:9821383] three stars
releaseDate	2025-06-18
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:9953120] Matthews, Lisa, 2025-05-28
schemaClass	Pathway
species	[Species:48887] Homo sapiens
stId	R-HSA-9953097
summation	[Summation:9953098] Mucopolysaccharidosis IX (MPS IX, Natowicz syndrome, Hyaluro...

(hasEvent)

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