IEMbase 0259: FUCA1-related Alpha-L-fucosidase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 259 |
| Nosology | 20.3.06.01 |
| Gene | FUCA1 |
| External IDs | OMIM:230000; ORPHA:349 |
| Generated mapping | MAPPED; Fucosidosis.yaml |
| Candidate DisMech targets | Fucosidosis.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as FUCA1-related alpha-L-fucosidase deficiency, with alternate labels alpha-fucosidosis and FUCO. The record is autosomal recessive and treatability is marked unknown.
The treatment section lists hematopoietic stem cell transplant as a stem-cell strategy with level 4 evidence and PMID 28238202. Biochemical rows include decreased alpha-L-fucosidase activity in fibroblasts and white blood cells, plus increased urinary fucose. Clinical rows include angiokeratoma, foam cells, sweating, and vacuolated lymphocytes.
DisMech phenotype coverage
Fucosidosis.yaml is the correct local target. The local entry covers biallelic
FUCA1 pathogenic variants, alpha-L-fucosidase deficiency, storage of
fucose-containing glycoproteins, glycolipids, and oligosaccharides, urinary
fucose-rich oligosaccharides and glycopeptides, developmental delay or
regression, severe intellectual disability, coarse facial features, dysostosis
multiplex, hepatomegaly, hyperhidrosis, dermatologic and vascular skin
abnormalities, hearing impairment, spasticity, seizures, progressive neurologic
deterioration, type I and type II subtypes, supportive care, transplant, and
intracisternal enzyme replacement as experimental context.
Concordance and completeness
Judgement: correct mapping with high concordance.
IEMbase and DisMech agree on FUCA1/fucosidosis identity, autosomal recessive inheritance, reduced alpha-L-fucosidase activity, fucose-rich urinary substrate signal, angiokeratoma/vascular skin disease, sweating/hyperhidrosis, neurologic storage disease, and transplant as a reported intervention. DisMech is broader for systemic and neurologic manifestations, while IEMbase adds compact cellular morphology prompts for foam cells and vacuolated lymphocytes.
Curation actions
- Keep this record mapped to
Fucosidosis.yaml. - No mapping correction is needed.
- Use IEMbase's foam-cell and vacuolated-lymphocyte rows as enrichment prompts during future fucosidosis phenotype review.