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GENATLAS PHENOTYPE

last update : 18-06-2010

Symbol	FUCA1D
Location	1p36.11
Name	fucosidosis
Corresponding gene	FUCA1
Main clinical features	lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues with neurologic deterioration, growth retardation, visceromegaly, and seizures in the severe early form, coarse facial features, angiokeratoma corporis diffusum, spasticity and delayed psychomotor development in the longer surviving form psychomotor retardation, gargoyle features, and angiokeratoma with abnormalities in macrophages, endothelial cells, fibroblasts, and Schwann cells on rectal difficulty in degrading fucose-containing blood group H and Lewis substances
Genetic determination	autosomal recessive
Related entries	an unusual spondylometaphyseoepiphyseal dysplasia
Function/system disorder	metabolism/lysosomal
Type	disease

Gene product

Name	fucosidase, alpha-L-1, tissue (FUCA1)

Remark(s)

MR spectroscopy, in the setting of typical clinical and imaging features, is characteristic for this rare disorder (Mamourian 2010)