Reactome | MPS VII - Sly syndrome (Hyaluronan metabolism)

Schema > Pathway > Entries

MPS VII - Sly syndrome (Hyaluronan metabolism) Show undefined attributes

authored	[InstanceEdit:2206283] Jassal, B, 2012-04-26
created	[InstanceEdit:2206283] Jassal, B, 2012-04-26
crossReference	[DatabaseIdentifier:12020940] Mondo:0009662
dbId	2206292
disease	[Disease:2326771] mucopolysaccharidosis VII
displayName	MPS VII - Sly syndrome (Hyaluronan metabolism)
edited	[InstanceEdit:2206283] Jassal, B, 2012-04-26
eventOf	[Pathway:R-HSA-2206281] Mucopolysaccharidoses - Homo sapiens
hasDiagram	true
hasEHLD	false
hasEvent	[FailedReaction:R-HSA-2318373] Defective GUSB does not hydrolyse (HA)2 - Homo sapiens [FailedReaction:R-HSA-9036068] Defective GUSB does not hydrolyse GlcA-?1,3-GlcNAc - Homo sapiens
isInDisease	true
isInferred	false
lastUpdatedDate	2019-03-25
literatureReference	[LiteratureReference:2318403] Beta glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis [LiteratureReference:2318398] Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes [LiteratureReference:2318378] Mutational analysis in longest known survivor of mucopolysaccharidosis type VII [LiteratureReference:2318405] Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII [LiteratureReference:1793200] Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome) [LiteratureReference:2458292] Cloning and characterization of the human beta-glucuronidase gene [LiteratureReference:2458245] Localization by fluorescence in situ hybridization of the human functional beta-glucuronidase gene (GUSB) to 7q11.21 --> q11.22 and two pseudogenes to 5p13 and 5q13
maxDepth	2
modified	[InstanceEdit:9953114] Stephan, Ralf, 2025-05-28
name	MPS VII - Sly syndrome (Hyaluronan metabolism)
normalPathway	[Pathway:R-HSA-2142845] Hyaluronan metabolism
previousReviewStatus	[ReviewStatus:9821384] two stars
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:2457667] Ashworth, Jane, 2012-08-28 [InstanceEdit:9953115] Matthews, Lisa, 2025-05-28
schemaClass	Pathway
species	[Species:48887] Homo sapiens
stId	R-HSA-2206292
summation	[Summation:2318386] Mucopolysaccharidosis type VII (MPS VII, Sly syndrome, beta-...
updateTrackers	[UpdateTracker:9779801] Update Tracker - [Pathway:2206292] MPS VII - Sly syndrome - v64:[addHasEvent, updateContainedRLE] [UpdateTracker:9782372] Update Tracker - [Pathway:2206292] MPS VII - Sly syndrome - v59:[add_removeLiteratureReference] [UpdateTracker:9787394] Update Tracker - [Pathway:2206292] MPS VII - Sly syndrome - v45:[updateContainedPathway] [UpdateTracker:9777888] Update Tracker - [Pathway:2206292] MPS VII - Sly syndrome - v68:[updateContainedRLE] [UpdateTracker:9953618] Update Tracker - [Pathway:2206292] MPS VII - Sly syndrome (Hyaluronan metabolism) - v93:[addHasEvent] [UpdateTracker:9785105] Update Tracker - [Pathway:2206292] MPS VII - Sly syndrome - v52:[removeHasEvent]

Referrals

(updatedInstance)

[UpdateTracker:9779801] Update Tracker - [Pathway:2206292] MPS VII - Sly syndrome - v64:[addHasEvent, updateContainedRLE]
[UpdateTracker:9782372] Update Tracker - [Pathway:2206292] MPS VII - Sly syndrome - v59:[add_removeLiteratureReference]
[UpdateTracker:9787394] Update Tracker - [Pathway:2206292] MPS VII - Sly syndrome - v45:[updateContainedPathway]
[UpdateTracker:9777888] Update Tracker - [Pathway:2206292] MPS VII - Sly syndrome - v68:[updateContainedRLE]
[UpdateTracker:9953618] Update Tracker - [Pathway:2206292] MPS VII - Sly syndrome (Hyaluronan metabolism) - v93:[addHasEvent]
[UpdateTracker:9785105] Update Tracker - [Pathway:2206292] MPS VII - Sly syndrome - v52:[removeHasEvent]

(hasEvent)

[Pathway:R-HSA-2206281] Mucopolysaccharidoses

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