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Fucosidosis
1 OMIM reference -
1 associated gene
9 connected diseases
35 signs/symptoms
Disease Type of connection
Hereditary breast and ovarian cancer syndrome
Pseudohypoaldosteronism type 2E
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Synonym(s):
- Alpha-L-fucosidase deficiency
Classification (Orphanet):
- Inborn errors of metabolism
- Rare bone disease
- Rare cardiac disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: D005645
Gene symbol UniProt reference OMIM reference
FUCA1 P04066612280
Very frequent
- Abnormal vertebral size / shape
- Autosomal recessive inheritance
- Brachycephaly / flat occiput
- Coarse face
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Facial dysmorphism
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Frontal bossing / prominent forehead
- Hearing loss / hypoacusia / deafness
- Hepatomegaly / liver enlargement (excluding storage disease)
- Hyperhidrosis / increased sweating
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Hypothyroidy
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Kyphosis
- Lipoatrophy
- Motor deficit / trouble
- Mucopolysacchariduria
- Vascular anomalies of skin / mucosae

Frequent
- Corneal clouding / opacity / vascularisation
- Gallbladder / common bile duct anomalies
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hypertonia / spasticity / rigidity / stiffness
- Hypotonia
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Repeat respiratory infections
- Seizures / epilepsy / absences / spasms / status epilepticus
- Splenomegaly
- Storage liver disease
- Structural anomalies of the cardio-circulatory system

Occasional
- Acrocyanosis / Raynaud's phenomenon / vasomotor disorders
- Anomalies of teeth and dentition
- Cardiomegaly
- Nails anomalies
- Pyramidal syndrome