Details of Disease | DrugMAP

General Information of Disease (ID: DISCNE67)

Disease Name	Fucosidosis
Synonyms	lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues; A-fucosidase deficiency; alpha fucosidase deficiency; Alpha-L-fucosidase deficiency; fucosidosis
Definition	Fucosidosis is an extremely rare lysosomal storage disorder characterized by a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis.
Disease Hierarchy	DISZHA63: Lysosomal storage disease with skeletal involvement DISFKZGQ: Oligosaccharidosis DISCNE67: Fucosidosis
Disease Identifiers	MONDO ID MONDO_0009254 MESH ID D005645 UMLS CUI C0016788 OMIM ID 230000 MedGen ID 5288 Orphanet ID 349 SNOMED CT ID 64716005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FUCA2	OTY5NVMJ	Strong	Biomarker	[1]
FUCA1	OTW71IK4	Definitive	Autosomal recessive	[2]
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References

1	Development of Fluorogenic Substrates of -l-Fucosidase Useful for Inhibitor Screening and Gene-expression Profiling.ACS Med Chem Lett. 2019 Aug 26;10(9):1309-1313. doi: 10.1021/acsmedchemlett.9b00259. eCollection 2019 Sep 12.
2	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.