Orphanet: Fucosidosis
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Fucosidosis

Disease 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.

ORPHA:349

Classification level: Disorder
  • Synonym(s):
    • Alpha-L-fucosidase deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Childhood
  • ICD-10: E77.1
  • ICD-11: 5C56.21
  • OMIM: 230000
  • UMLS: C0016788
  • MeSH: D005645
  • GARD: 6473
  • MedDRA: -

  A summary on this disease is available in Español (2015) Français (2015) Italiano (2015) Nederlands (2015) Deutsch (2003)

Detailed information

Guidelines

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.