IEMbase 0261: MANBA-related Beta-mannosidase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 261 |
| Nosology | 20.3.04.01 |
| Gene | MANBA |
| External IDs | OMIM:248510; ORPHA:118 |
| Generated mapping | MAPPED; Beta_Mannosidosis.yaml |
| Candidate DisMech targets | Beta_Mannosidosis.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as MANBA-related beta-mannosidase deficiency, with alternate labels beta-mannosidosis and LBMAN. The record is autosomal recessive and treatability is marked unknown, with no treatment rows in the cached JSON.
Biochemical rows include decreased beta-mannosidase activity in fibroblasts and white blood cells. Clinical rows include angiokeratoma, ataxia, attention disorder, aggressive behavior, behavioral disorder, delayed myelination, dysmorphic features, dysostosis multiplex, foam cells, hyperactivity, hyperreflexia, hypertonia, hypotonia, intellectual disability, polyneuropathy, self mutilation, spasticity, and strabismus.
DisMech phenotype coverage
Beta_Mannosidosis.yaml is the correct local target. The local entry covers
autosomal recessive MANBA-related lysosomal beta-mannosidase deficiency,
accumulation of mannose-containing oligosaccharides in tissues and body fluids,
urinary free oligosaccharides, reduced beta-mannosidase activity, intellectual
disability, sensorineural hearing impairment, facial abnormalities, atypical
behavior, developmental regression, dysphagia, delayed myelination, recurrent
respiratory infections, seizures, angiokeratoma, and supportive care.
Concordance and completeness
Judgement: correct mapping, with IEMbase highlighting phenotype gaps for future review.
IEMbase and DisMech agree on MANBA/beta-mannosidosis identity, autosomal recessive inheritance, decreased beta-mannosidase activity, intellectual disability, behavior/neurodevelopmental involvement, delayed myelination, and angiokeratoma. IEMbase adds more granular neurologic and skeletal prompts: ataxia, hyperreflexia, hypertonia, hypotonia, spasticity, polyneuropathy, dysostosis multiplex, strabismus, self-mutilation, foam cells, and hyperactivity/attention findings.
Curation actions
- Keep this record mapped to
Beta_Mannosidosis.yaml. - No mapping correction is needed.
- Use IEMbase's motor-neurologic, skeletal, ocular, and cellular rows as enrichment prompts during future beta-mannosidosis review.