Details of Disease

General Information of Disease (ID: DIS6SBPF)

Disease Name Mucopolysaccharidosis type 2, severe form
Synonyms
Hunter syndrome type A; mucopolysaccharidosis type 2, severe form; mucopolysaccharidosis type IIA; MPS2A; mucopolysaccharidosis type II, severe form; MPSIIA; iduronate 2-sulfatase deficiency type A; mucopolysaccharidosis type 2A
Definition
Mucopolysaccharidosis type 2 (MPS2), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade.
Disease Hierarchy
DIS87GLG: Mucopolysaccharidosis II
DIS6SBPF: Mucopolysaccharidosis type 2, severe form
Disease Identifiers
MONDO ID
MONDO_0016315
UMLS CUI
C0342841
MedGen ID
575246
Orphanet ID
217085
SNOMED CT ID
73146005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
IDS DEL45C2 Supportive X-linked [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
IDS OTZO94EO Supportive X-linked [1]
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References

1 Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.