Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   


go back to main search page
Accession:DOID:14500 term browser browse the term
Definition:An autosomal recessive lysosomal storage disease caused by a deficiency of ALPHA-L-FUCOSIDASE activity resulting in an accumulation of fucose containing SPHINGOLIPIDS; GLYCOPROTEINS, and mucopolysaccharides (GLYCOSAMINOGLYCANS) in lysosomes. The infantile form (type I) features psychomotor deterioration, MUSCLE SPASTICITY, coarse facial features, growth retardation, skeletal abnormalities, visceromegaly, SEIZURES, recurrent infections, and MACROGLOSSIA, with death occurring in the first decade of life. Juvenile fucosidosis (type II) is the more common variant and features a slowly progressive decline in neurologic function and angiokeratoma corporis diffusum. Type II survival may be through the fourth decade of life. (From Menkes, Textbook of Child Neurology, 5th ed, p87; Am J Med Genet 1991 Jan;38(1):111-31)
Synonyms:exact_synonym: A-fucosidase deficiency;   Fucosidase Deficiency;   Fucosidase Deficiency Disease;   Fucosidase Deficiency Diseases;   Fucosidosis Type 1;   Fucosidosis Type I;   Fucosidosis, alpha;   alpha Fucosidase Deficiency Disease;   alpha L Fucosidase Deficiency Disease;   alpha-Fucosidase Deficiency Diseases;   alpha-L-Fucosidase Deficiency;   alpha-L-Fucosidase Deficiency Diseases;   alpha-fucosidase deficiency;   fucosidosis type II;   infantile fucosidosis;   juvenile fucosidosis
 primary_id: MESH:D005645
 alt_id: OMIA:000396;   OMIM:230000;   RDO:0005637
 xref: GARD:6473;   NCI:C61274
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants       view all columns           Sort by:
fucosidosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcx doublecortin JBrowse link X 115,098,675 115,175,515 RGD:8554872
G Fuca1 alpha-L-fucosidase 1 JBrowse link 5 154,269,296 154,286,545 RGD:1598969

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15625
    Nutritional and Metabolic Diseases 4375
      disease of metabolism 4375
        inherited metabolic disorder 1862
          carbohydrate metabolic disorder 320
            fucosidosis 2
Path 2
Term Annotations click to browse term
  disease 15625
    disease of anatomical entity 14954
      nervous system disease 10224
        central nervous system disease 8101
          brain disease 7571
            Metabolic Brain Diseases 472
              Metabolic Brain Diseases, Inborn 406
                Lysosomal Storage Diseases, Nervous System 62
                  fucosidosis 2
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.