General Information of Disease (ID: DISS1E36)

Disease Name Mucopolysaccharidosis type 2, attenuated form
Synonyms
mucopolysaccharidosis type IIB; mucopolysaccharidosis type 2, attenuated form; MPSIIB; MPS2B; mucopolysaccharidosis type II, attenuated form; mucopolysaccharidosis type 2B; Hunter syndrome type B; iduronate 2-sulfatase deficiency type B
Definition
Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2, leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form by the absence of cognitive decline.
Disease Hierarchy
DIS87GLG: Mucopolysaccharidosis II
DISS1E36: Mucopolysaccharidosis type 2, attenuated form
Disease Identifiers
MONDO ID
MONDO_0016316
UMLS CUI
C5679815
MedGen ID
1826165
Orphanet ID
217093

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.