loading...| Preferred Name |
Fucosidosis |
|
| Synonyms |
Fucosidase Deficiency Diseases |
|
| 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 |
Fucosidase Deficiency Diseases Infantile Fucosidosis alpha Fucosidase Deficiency Disease Disease, alpha-L-Fucosidase Deficiency Alpha-Fucosidase Deficiency alpha-Fucosidase Deficiency Diseases alpha L Fucosidase Deficiency Disease Fucosidosis Type 1 Diseases, Fucosidase Deficiency Fucosidase Deficiency Deficiency Disease, alpha-L-Fucosidase Deficiency Diseases, Fucosidase Juvenile Fucosidosis Disease, Fucosidase Deficiency Deficiency Diseases, alpha-L-Fucosidase Deficiency Disease, alpha L Fucosidase alpha-Fucosidase Deficiency Disease Fucosidosis, Infantile Diseases, alpha-Fucosidase Deficiency Fucosidase Deficiency Disease Deficiency Disease, Fucosidase Deficiency Diseases, alpha-Fucosidase Fucosidosis Type I Disease, alpha-Fucosidase Deficiency alpha-L-Fucosidase Deficiency Diseases Diseases, alpha-L-Fucosidase Deficiency Fucosidosis Type 1s Fucosidosis Type II Deficiency Disease, alpha-Fucosidase alpha-L-Fucosidase Deficiency Disease Deficiency Disease, alpha Fucosidase Type 1s, Fucosidosis Type 1, Fucosidosis Fucosidosis, Juvenile alpha-L-Fucosidase Deficiency |
|
| 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 |
C0268222 C0268221 C0016788 |
|
| 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/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Inverse of RO | ||
| Machine permutation |
1985 |
|
| MDA |
19840529 |
|
| MMR |
20160628 |
|
| MN |
C18.452.648.189.435.295 C18.452.648.202.303 C16.320.565.595.554.295 C16.320.565.189.435.295 C10.228.140.163.100.435.295 C16.320.565.202.303 C18.452.648.595.554.295 C18.452.132.100.435.295 |
|
| notation |
D005645 |
|
| prefLabel |
Fucosidosis |
|
| TERMUI |
T368137 T368136 T368134 T017082 T841465 T752121 T368135 T368138 T368132 T368139 T368133 T760853 T368140 T841466 |
|
| TH |
OMIM (2013) NLM (2000) NLM (1985) NLM (2010) GHR (2014) NLM (2011) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |