IEMbase 0242: IDS-related Iduronate 2-sulfatase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 242 |
| Nosology | 20.2.02.01 |
| Gene | IDS |
| External IDs | OMIM:309900; ORPHA:580 |
| Generated mapping | MAPPED; Hunter_syndrome.yaml |
| Candidate DisMech targets | Hunter_syndrome.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as IDS-related iduronate 2-sulfatase deficiency, with alternate labels Hunter disease, mucopolysaccharidosis type 2, and MPS II. The record is X-linked and treatability is marked yes.
Treatment rows include idursulfase, idursulfase beta, and hematopoietic stem cell transplantation. Biochemical rows include decreased iduronate-2-sulfatase activity in white blood cells and increased urinary dermatan sulfate, heparan sulfate, and total glycosaminoglycans. Clinical and characteristic rows include Alder-Reilly anomaly, atlanto-axial instability, cardiomyopathy, cervical myelopathy, delayed tooth eruption, dental spacing, diarrhea, dysostosis multiplex, kyphosis, neurologic regression, restrictive lung disease, retinal dystrophy, seizures, swallowing difficulties, upper airway obstruction, behavioral disorder, carpal tunnel syndrome, coarse facial features, hearing loss, hepatosplenomegaly, hernias, hydrocephalus, intellectual disability, joint contractures, macrocephaly, obstructive sleep apnea, recurrent otitis media, and valvular thickening.
DisMech phenotype coverage
Hunter_syndrome.yaml is the correct local target. The entry covers X-linked
IDS deficiency, iduronate-2-sulfatase loss, dermatan/heparan sulfate storage,
GAG elevation, airway disease, hepatosplenomegaly, cardiac valve and
cardiomyopathy involvement, skeletal and joint disease, hearing loss, neurologic
regression, behavioral and cognitive involvement, sleep-disordered breathing,
and treatment with idursulfase plus broader HSCT and CNS-penetrant therapy
context.
Concordance and completeness
Judgement: correct mapped target with high concordance.
IEMbase and DisMech agree on IDS/MPS II identity, X-linked inheritance, enzyme-deficiency biology, stored GAG substrates, multisystem clinical pattern, and enzyme-replacement therapy. IEMbase adds useful checklist-level detail for idursulfase beta, dental spacing, delayed tooth eruption, Alder-Reilly anomaly, atlanto-axial instability, cervical myelopathy, restrictive lung disease, and retinal dystrophy.
Curation actions
- Keep this record mapped to
Hunter_syndrome.yaml. - No mapping correction is needed.
- Consider IEMbase's clinical checklist as enrichment prompts for future MPS II phenotype review.