loading...| Preferred Name |
Fucosidosis |
| Synonyms |
Diseases, alpha-Fucosidase Deficiency |
| Definitions |
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) |
| ID |
http://purl.bioontology.org/ontology/MESH/D005645 |
| altLabel |
Diseases, alpha-Fucosidase Deficiency Fucosidase Deficiency Disease Diseases, Fucosidase Deficiency Deficiency Diseases, alpha-Fucosidase Fucosidosis Type 1 alpha L Fucosidase Deficiency Disease alpha-Fucosidase Deficiency Diseases Diseases, alpha-L-Fucosidase Deficiency Juvenile Fucosidosis Fucosidase Deficiency Fucosidosis, Infantile Fucosidosis Type I Disease, alpha-L-Fucosidase Deficiency Type 1, Fucosidosis alpha-L-Fucosidase Deficiency alpha-L-Fucosidase Deficiency Diseases Deficiency Disease, Fucosidase Type 1s, Fucosidosis Fucosidosis Type 1s alpha-Fucosidase Deficiency Disease Deficiency Disease, alpha-Fucosidase Deficiency Disease, alpha L Fucosidase Deficiency Disease, alpha Fucosidase Infantile Fucosidosis Fucosidase Deficiency Diseases Alpha-Fucosidase Deficiency Deficiency Diseases, Fucosidase Fucosidosis Type II Fucosidosis, Juvenile alpha-L-Fucosidase Deficiency Disease Deficiency Disease, alpha-L-Fucosidase Disease, alpha-Fucosidase Deficiency alpha Fucosidase Deficiency Disease Disease, Fucosidase Deficiency Deficiency Diseases, alpha-L-Fucosidase |
| 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 |
| cui |
C0016788 C0268221 C0268222 |
| DC |
1 |
| 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) |
| DX |
19850101 |
| FX |
D005644 |
| HN |
1985 |
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000401 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000209 |
| Inverse of RO | |
| Machine permutation |
1985 |
| MDA |
19840529 |
| MMR |
20160628 |
| MN |
C18.452.648.202.303 C16.320.565.595.554.295 C10.228.140.163.100.435.295 C18.452.648.189.435.295 C18.452.132.100.435.295 C16.320.565.202.303 C18.452.648.595.554.295 C16.320.565.189.435.295 |
| notation |
D005645 |
| prefLabel |
Fucosidosis |
| TERMUI |
T368133 T368135 T368139 T760853 T368138 T368132 T368136 T752121 T368140 T368137 T841466 T017082 T841465 T368134 |
| TH |
NLM (2011) NLM (1985) NLM (2000) NLM (2010) ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T047 |
| subClassOf |