IEMbase 0250: GUSB-related Beta-glucuronidase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 250 |
| Nosology | 20.2.1.01 |
| Gene | GUSB |
| External IDs | OMIM:253220; ORPHA:584 |
| Generated mapping | MAPPED; Sly_syndrome.yaml |
| Candidate DisMech targets | Sly_syndrome.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as GUSB-related beta-glucuronidase deficiency, with alternate labels Sly disease, mucopolysaccharidosis type 7, and MPS VII. The record is autosomal recessive and treatability is marked yes.
The treatment section lists hematopoietic stem cell transplant and vestronidase, both with level 4 evidence from PMID 32340185 and reduced urinary chondroitin sulfate, dermatan sulfate, and heparan sulfate as metabolite effects. Biochemical rows include decreased beta-glucuronidase activity and increased urinary chondroitin sulfate, dermatan sulfate, heparan sulfate, and total glycosaminoglycans. Clinical rows include Alder-Reilly anomaly, corneal clouding, dysostosis multiplex, hernias, intellectual disability, irregular dental pulp morphology, macrocephaly, and obliteration of the dental pulp chamber. Characteristic rows include coarse facial features, fetal hydrops, hepatosplenomegaly, joint contractures, neurologic regression, short stature, and valvular thickening.
DisMech phenotype coverage
Sly_syndrome.yaml is the correct local target. The local entry covers MPS VII
as GUSB/beta-glucuronidase deficiency with dermatan, heparan, and chondroitin
sulfate storage. It captures the broad phenotype, including fetal hydrops,
neurologic disease, hepatosplenomegaly, skeletal dysplasia, coarse facies,
short stature, corneal opacity, and cardiac valve disease. The treatment
section includes vestronidase alfa enzyme replacement therapy, hematopoietic
stem cell transplant, and supportive management.
Concordance and completeness
Judgement: correct mapping with high concordance.
IEMbase and DisMech agree on GUSB/MPS VII identity, beta-glucuronidase deficiency, the dermatan/heparan/chondroitin sulfate storage profile, total GAG elevation, fetal hydrops, skeletal disease, corneal clouding, coarse facies, hepatosplenomegaly, neurologic regression, intellectual disability, short stature, valvular thickening, vestronidase, and transplant. IEMbase adds a notable dental-pulp checklist and explicit treatment-metabolite response rows.
Curation actions
- Keep this record mapped to
Sly_syndrome.yaml. - No mapping correction is needed.
- Consider IEMbase's dental pulp and treatment-metabolite response rows during future MPS VII phenotype and treatment review.