Fucosidosis - CISMeF

Preferred Label : Fucosidosis;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Alpha-L-fucosidase deficiency;

Description : Fucosidosis is an autosomal recessive lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues. Clinical features include angiokeratoma, progressive psychomotor retardation, neurologic signs, coarse facial features, and dysostosis multiplex. Fucosidosis has been classified into 2 major types. Type 1 is characterized by rapid psychomotor regression and severe neurologic deterioration beginning at about 6 months of age, elevated sweat sodium chloride, and death within the first decade of life. Type 2 is characterized by milder psychomotor retardation and neurologic signs, the development of angiokeratoma corporis diffusum, normal sweat salinity, and longer survival (Kousseff et al., 1976).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the alpha-L-fucosidase gene (FUCA1, 230000.0001);

Laboratory abnormalities : Elevated sweat chloride; Vacuolated lymphocytes; Increased urine oligosaccharides; Alpha-L-fucosidase deficiency;

Prefixed ID : #230000;

Details

Origin ID

230000;

UMLS CUI

C0016788;

Currated CISMeF NLP mapping
- Defects in glycoprotein degradation [ICD-10 Sub-category]
- Defects in glycoprotein degradation [ICD-10 Sub-category (who)]
- Fucosidosis [PASCAL descriptor]
- Fucosidosis [ICD-11 More detail]
- Fucosidosis [NCIt concept]
- Fucosidosis [ORDO Disease]
- Fucosidosis (disorder) [SNOMED CT concept]
- fucosidosis [Disease (Nov.)]
- fucosidosis [DO Concept]
- fucosidosis [MeSH Descriptor]
- fucosidosis [MeSH concept]
- fucosidosis, nos [SNOMED Notion]
DO Cross reference
- fucosidosis [DO Concept]
Genes related to phenotype
- Fucosidase, alpha-L, 1 [OMIM gene]
HPO term(s)
- Abnormality of the abdominal wall [HPO term]
- Absent/hypoplastic coccyx [HPO term]
- Absent/hypoplastic paranasal sinuses [HPO term]
- Angiokeratoma [HPO term]
- Anhidrosis [HPO term]
- Anterior beaking of lumbar vertebrae [HPO term]
- Anterior beaking of thoracic vertebrae [HPO term]
- Autosomal recessive inheritance [HPO term]
- Barrel-shaped chest [HPO term]
- Cardiomegaly [HPO term]
- Cerebral atrophy [HPO term]
- Cervical platyspondyly [HPO term]
- Coarse facial features [HPO term]
- Coxa valga [HPO term]
- Dry skin [HPO term]
- Dysostosis multiplex [HPO term]
- Elevated sweat chloride [HPO term]
- Flexion contracture [HPO term]
- Frontal bossing [HPO term]
- Full lips [HPO term]
- Hearing impairment [HPO term]
- Hepatomegaly [HPO term]
- Hernia [HPO term]
- Hypertelorism [HPO term]
- Intellectual disability [HPO term]
- Lumbar hyperlordosis [HPO term]
- Macroglossia [HPO term]
- Oligosacchariduria [HPO term]
- Polyneuropathy [HPO term]
- Prominent forehead [HPO term]
- Recurrent respiratory infections [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Shield chest [HPO term]
- Short stature [HPO term]
- Spastic tetraplegia [HPO term]
- Splenomegaly [HPO term]
- Thick eyebrow [HPO term]
- Thick lower lip vermilion [HPO term]
- Tortuosity of conjunctival vessels [HPO term]
- Vacuolated lymphocytes [HPO term]
- Wide nose [HPO term]
Not associated HPO term(s)
- Abnormality of skull size [HPO term]
ORDO concept(s)
- Fucosidosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fucosidosis [NCIt concept]
- Fucosidosis [ORDO Disease]
- Fucosidosis [PASCAL descriptor]
- Fucosidosis [ICD-11 More detail]
- Fucosidosis (disorder) [SNOMED CT concept]
- fucosidosis [MeSH Descriptor]
- fucosidosis [MeSH concept]
- fucosidosis [DO Concept]
- fucosidosis [Disease (Nov.)]
- fucosidosis, nos [SNOMED Notion]

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