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RGD uses the Human Disease Ontology (DO, for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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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;   ICD10CM:E77.1;   NCI:C61274
For additional species annotation, visit the Alliance of Genome Resources.

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fucosidosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcx doublecortin ISO ClinVar Annotator: match by term: Fucosidosis ClinVar PMID:25741868 NCBI chr  X:107,430,767...107,573,612
Ensembl chr  X:107,430,767...107,507,476
JBrowse link
G Fuca1 alpha-L-fucosidase 1 ISO DNA:nonsense mutation:cds: (human)
ClinVar Annotator: match by term: Fucosidosis
PMID:1214294 PMID:1281988 PMID:2012122 PMID:2642067 PMID:7581404 More... RGD:1598969 NCBI chr 5:148,152,718...148,169,972
Ensembl chr 5:148,152,700...148,169,972
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    Nutritional and Metabolic Diseases 6757
      disease of metabolism 6757
        inherited metabolic disorder 4663
          carbohydrate metabolic disorder 2561
            fucosidosis 2
Path 2
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      nervous system disease 13174
        central nervous system disease 11297
          brain disease 10584
            Metabolic Brain Diseases 855
              Metabolic Brain Diseases, Inborn 743
                Lysosomal Storage Diseases, Nervous System 112
                  fucosidosis 2
paths to the root