Reactome | MPS IIIC - Sanfilippo syndrome C

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MPS IIIC - Sanfilippo syndrome C Show undefined attributes

authored	[InstanceEdit:2206283] Jassal, B, 2012-04-26
created	[InstanceEdit:2206283] Jassal, B, 2012-04-26
crossReference	[DatabaseIdentifier:12020937] Mondo:0018937
dbId	2206291
disease	[Disease:2226064] mucopolysaccharidosis III
displayName	MPS IIIC - Sanfilippo syndrome C
edited	[InstanceEdit:2206283] Jassal, B, 2012-04-26
eventOf	[Pathway:R-HSA-2206281] Mucopolysaccharidoses - Homo sapiens
hasDiagram	true
hasEHLD	false
hasEvent	[FailedReaction:R-HSA-2263492] Defective HGSNAT does not acetylate Heparan chain(1) - Homo sapiens [FailedReaction:R-HSA-9036056] Defective HGSNAT does not acetylate Heparan sulfate chain(3) - Homo sapiens
isInDisease	true
isInferred	false
lastUpdatedDate	2019-03-25
literatureReference	[LiteratureReference:2226054] Sanfilippo syndrome type C: deficiency of acetyl-CoA:alpha-glucosaminide N-acetyltransferase in skin fibroblasts [LiteratureReference:2226059] A new biochemical subtype of the Sanfilippo syndrome: characterization of the storage material in cultured fibroblasts of Sanfilippo C patients [LiteratureReference:2457590] Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene [LiteratureReference:2457712] Mucopolysaccharidosis type III (Sanfilippo Syndrome): emerging treatment strategies [LiteratureReference:1678726] Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C) [LiteratureReference:1678723] Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome)
maxDepth	2
modified	[InstanceEdit:9953027] Stephan, Ralf, 2025-05-28
name	MPS IIIC - Sanfilippo syndrome C
normalPathway	[Pathway:R-HSA-2024096] HS-GAG degradation
releaseDate	2012-09-18
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:2457644] Coutinho, Maria, 2012-08-27 [InstanceEdit:2457645] Alves, Sandra, 2012-08-27 [InstanceEdit:2457646] Matos, Liliana, 2012-08-27
schemaClass	Pathway
species	[Species:48887] Homo sapiens
stId	R-HSA-2206291
summation	[Summation:2226056] Mucopolysaccharidosis III (Sanfilippo syndrome) was describe...
updateTrackers	[UpdateTracker:9787418] Update Tracker - [Pathway:2206291] MPS IIIC - Sanfilippo syndrome C - v45:[updateContainedPathway] [UpdateTracker:9785344] Update Tracker - [Pathway:2206291] MPS IIIC - Sanfilippo syndrome C - v52:[removeHasEvent] [UpdateTracker:9778637] Update Tracker - [Pathway:2206291] MPS IIIC - Sanfilippo syndrome C - v68:[updateContainedRLE] [UpdateTracker:9779831] Update Tracker - [Pathway:2206291] MPS IIIC - Sanfilippo syndrome C - v64:[addHasEvent, updateContainedRLE]

Referrals

(updatedInstance)

[UpdateTracker:9787418] Update Tracker - [Pathway:2206291] MPS IIIC - Sanfilippo syndrome C - v45:[updateContainedPathway]
[UpdateTracker:9785344] Update Tracker - [Pathway:2206291] MPS IIIC - Sanfilippo syndrome C - v52:[removeHasEvent]
[UpdateTracker:9778637] Update Tracker - [Pathway:2206291] MPS IIIC - Sanfilippo syndrome C - v68:[updateContainedRLE]
[UpdateTracker:9779831] Update Tracker - [Pathway:2206291] MPS IIIC - Sanfilippo syndrome C - v64:[addHasEvent, updateContainedRLE]

(hasEvent)

[Pathway:R-HSA-2206281] Mucopolysaccharidoses

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