Features include always present findings: Hemiplegia, Angiokeratoma, Dystonia, and Short stature and others; and very common findings: Hearing loss (hearing impairment), Coarse facial features, Prominent forehead, and Global developmental delay and others. 81 total HPO annotations.

FUCA1 encodes alpha-L-fucosidase 1 (466 aa). Alpha-L-fucosidase is responsible for hydrolyzing the alpha-1,6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins Highest expression in Thyroid (78.1 TPM) and Small Intestine Terminal Ileum (74.4 TPM).

Fucosidosis is caused by mutations in the FUCA1 gene on chromosome 1.

The FUCA1 protein participates in FUCA1 hydrolyses NGP:1,6-GlcNAc pathway.

FUCA1 is classified as a druggable target (Druggable Genome and Enzyme categories) with score 0.0.

Genetic testing for FUCA1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for fucosidosis has been reported in the published literature.

Phenotype severity distribution: 24 always present features, 17 very common features, 9 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

2 clinical trials registered, 1 recruiting. Interventions under study include drug therapy, other interventions, and biologic therapy. Pipeline includes 1 PHASE2. Research is sponsored by a mix of industry and academic institutions.

177 publications have been identified in PubMed for fucosidosis. Research spans Basic Science / Preclinical (40%), Review / Meta-Analysis (32%), and Epidemiology / Natural History (15%).