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GTR Home > Conditions/Phenotypes > Fucosidosis

Fucosidosis

Synonyms
ALPHA-L-FUCOSIDASE DEFICIENCY; Lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

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). [from OMIM]

Available tests

53 tests are in the database for this condition.

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Clinical tests (53 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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