fucosidosis
Findings
No curated finding names fucosidosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0009254), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
57 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AngiokeratomaHPOHP:0001014
- 2 of 2 reported patients
- Anterior beaking of lumbar vertebraeHPOHP:0008430
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Beaking of vertebral bodiesHPOHP:0004568
- 1 of 1 reported patient
- Brisk reflexesHPOHP:0001348
- 1 of 1 reported patient
- Bruising susceptibilityHPOHP:0000978
- 2 of 2 reported patients
- CNS hypomyelinationHPOHP:0003429
- 1 of 1 reported patient
- Delayed gross motor development
Show the remaining 45
- Flexion contractureHPOHP:0001371
- 1 of 1 reported patient
- Generalized amyotrophyHPOHP:0003700
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- GlycopeptiduriaHPOHP:0012067
- 1 of 1 reported patient
- HemiplegiaHPOHP:0002301
- 2 of 2 reported patients
- HypertelorismHPOHP:0000316
- 2 of 2 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- FUCA1HGNC:4006
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · ClinGen · Autosomal recessive · 2022
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: fucosidosis
- Also called
- Alpha-L-fucosidase deficiency