mucopolysaccharidosis type 2, severe form
Findings
No curated finding names mucopolysaccharidosis type 2, severe form yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0016315), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- IDSHGNC:5389
- Supportive · Orphanet · X-linked · 2021
Where it sits
- A kind of
Other names
7 names
Resolves to: mucopolysaccharidosis type 2, severe form
- Also called
- Hunter syndrome type Aiduronate 2-sulfatase deficiency type AMPS2AMPSIIAmucopolysaccharidosis type 2Amucopolysaccharidosis type II, severe formmucopolysaccharidosis type IIA