Terminology Service for NFDI4Health
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)
Instance info
Synonyms
Juvenile Fucosidosis, Fucosidase Deficiency Diseases, Deficiency Diseases, alpha-Fucosidase, Infantile Fucosidosis, Diseases, alpha-L-Fucosidase Deficiency, Disease, alpha-Fucosidase Deficiency, Fukosidose (DE), Alpha-Fucosidase Deficiency, alpha-L-Fucosidase Deficiency Disease, Deficiency Disease, alpha-Fucosidase, Deficiency Disease, alpha L Fucosidase, alpha L Fucosidase Deficiency Disease, Fucosidosis Type I, Fucosidosis, Infantile, Deficiency Diseases, Fucosidase, alpha-Fucosidase Deficiency Disease, Type 1s, Fucosidosis, Deficiency Disease, alpha Fucosidase, Diseases, alpha-Fucosidase Deficiency, Diseases, Fucosidase Deficiency, Fucosidase Deficiency, Fucosidosis, Juvenile, Deficiency Disease, alpha-L-Fucosidase, Fucosidosis Type 1s, Deficiency Disease, Fucosidase, Fucosidosis Type II, Fucosidase Deficiency Disease, Disease, Fucosidase Deficiency, Deficiency Diseases, alpha-L-Fucosidase, alpha-L-Fucosidase Deficiency Diseases, alpha-Fucosidase Deficiency Diseases, Type 1, Fucosidosis, alpha-L-Fucosidase Deficiency, Disease, alpha-L-Fucosidase Deficiency, Fucosidosis Type 1, Fukosidase-Mangelkrankheit (DE), alpha Fucosidase Deficiency Disease
AQL
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
DC
1
DX
19850101
FX
D005644
HN
1985
MDA
19840529
MMR
20160628
MN
C16.320.565.595.554.295,C18.452.648.189.435.295,C18.452.648.202.303,C10.228.140.163.100.435.295,C16.320.565.202.303,C18.452.132.100.435.295,C18.452.648.595.554.295,C16.320.565.189.435.295
PM
1985
QB
http://purl.bioontology.org/ontology/MESH/Q000097,http://purl.bioontology.org/ontology/MESH/Q000175,http://purl.bioontology.org/ontology/MESH/Q000196,http://purl.bioontology.org/ontology/MESH/Q000150,http://purl.bioontology.org/ontology/MESH/Q000191,http://purl.bioontology.org/ontology/MESH/Q000139,http://purl.bioontology.org/ontology/MESH/Q000534,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000378,http://purl.bioontology.org/ontology/MESH/Q000235,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000451,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000517,http://purl.bioontology.org/ontology/MESH/Q000382,http://purl.bioontology.org/ontology/MESH/Q000821,http://purl.bioontology.org/ontology/MESH/Q000601,http://purl.bioontology.org/ontology/MESH/Q000469,http://purl.bioontology.org/ontology/MESH/Q000523,http://purl.bioontology.org/ontology/MESH/Q000401,http://purl.bioontology.org/ontology/MESH/Q000201,http://purl.bioontology.org/ontology/MESH/Q000145,http://purl.bioontology.org/ontology/MESH/Q000266,http://purl.bioontology.org/ontology/MESH/Q000662,http://purl.bioontology.org/ontology/MESH/Q000188,http://purl.bioontology.org/ontology/MESH/Q000628,http://purl.bioontology.org/ontology/MESH/Q000209,http://purl.bioontology.org/ontology/MESH/Q000208,http://purl.bioontology.org/ontology/MESH/Q000503
RO
http://purl.bioontology.org/ontology/MESH/D005644
SIB
http://purl.bioontology.org/ontology/MESH/D044904,http://purl.bioontology.org/ontology/MESH/D009100,http://purl.bioontology.org/ontology/MESH/D015323,http://purl.bioontology.org/ontology/MESH/D005693,http://purl.bioontology.org/ontology/MESH/D009081,http://purl.bioontology.org/ontology/MESH/D013106,http://purl.bioontology.org/ontology/MESH/D029461,http://purl.bioontology.org/ontology/MESH/D015318,http://purl.bioontology.org/ontology/MESH/D009083,http://purl.bioontology.org/ontology/MESH/D006960,http://purl.bioontology.org/ontology/MESH/D018981,http://purl.bioontology.org/ontology/MESH/D007787,http://purl.bioontology.org/ontology/MESH/D006008,http://purl.bioontology.org/ontology/MESH/D006009,http://purl.bioontology.org/ontology/MESH/D005955
TERMUI
T017082,T368140,T368132,T760853,T368138,T368137,T368139,T368134,T368133,T368136,T368135,T752121,T841465,T841466
TH
GHR (2014),ORD (2010),OMIM (2013),NLM (2000),NLM (2011),NLM (2010),NLM (1985)
cui
C0016788,C0268222,C0268221
hasSTY
http://purl.bioontology.org/ontology/STY/T047
tui
T047
Instance relations
Types