IEMbase 0251: HYAL1-related Hyaluronidase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 251 |
| Nosology | 20.2.11.01 |
| Gene | HYAL1 |
| External IDs | OMIM:601492; ORPHA:67041 |
| Generated mapping | MAPPED; Mucopolysaccharidosis_type_IX.yaml |
| Candidate DisMech targets | Mucopolysaccharidosis_type_IX.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as HYAL1-related hyaluronidase deficiency, abbreviated MPS IX. The record is autosomal recessive and treatability is marked unknown, with no treatment rows in the cached JSON.
Biochemical rows include decreased hyaluronidase activity in plasma, increased urinary hyaluronic acid, and normal total urinary glycosaminoglycans. The clinical section has no additional rows in the cached JSON. Characteristic rows include cutaneous nodules, cutaneous swelling, degenerative hip dysplasia, joint contractures, and scoliosis.
DisMech phenotype coverage
Mucopolysaccharidosis_type_IX.yaml is the correct local target. The local
entry covers HYAL1/hyaluronidase deficiency, hyaluronan accumulation, and the
important point that total urinary GAGs may be normal. It frames the phenotype
as a very rare, usually mild mucopolysaccharidosis with periarticular
soft-tissue masses, painful joint swelling or nodules, mild short stature,
scoliosis, hip dysplasia, joint-contracture-like musculoskeletal findings, and
supportive management.
Concordance and completeness
Judgement: correct mapping with high concordance.
IEMbase and DisMech agree on HYAL1/MPS IX identity, hyaluronidase deficiency, hyaluronic acid/hyaluronan accumulation, normal total urinary GAGs, nodular or swelling soft-tissue disease, hip dysplasia, joint contractures, and scoliosis. The main wording difference is that IEMbase uses cutaneous nodules and swelling, whereas DisMech emphasizes periarticular soft-tissue masses and joint swelling.
Curation actions
- Keep this record mapped to
Mucopolysaccharidosis_type_IX.yaml. - No mapping correction is needed.
- Consider whether the local phenotype wording should explicitly include cutaneous nodules/swelling as IEMbase uses those labels.