Visão selecionada em Inglês
| Descritor em português: | Fucosidose | ||||||
| Descritor em inglês: | Fucosidosis | ||||||
| Descritor em espanhol: |
Fucosidosis
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| Descritor em francês: | Fucosidose | ||||||
| Termo(s) alternativo(s): |
Alpha-Fucosidase Deficiency Deficiency Disease, Fucosidase Deficiency Disease, alpha Fucosidase Deficiency Disease, alpha L Fucosidase Deficiency Disease, alpha-Fucosidase Deficiency Disease, alpha-L-Fucosidase Deficiency Diseases, Fucosidase Deficiency Diseases, alpha-Fucosidase Deficiency Diseases, alpha-L-Fucosidase Disease, Fucosidase Deficiency Disease, alpha-Fucosidase Deficiency Disease, alpha-L-Fucosidase Deficiency Diseases, Fucosidase Deficiency Diseases, alpha-Fucosidase Deficiency Diseases, alpha-L-Fucosidase Deficiency Fucosidase Deficiency Fucosidase Deficiency Disease Fucosidase Deficiency Diseases Fucosidosis Type 1 Fucosidosis Type 1s Fucosidosis Type I Fucosidosis Type II Fucosidosis, Infantile Fucosidosis, Juvenile Infantile Fucosidosis Juvenile Fucosidosis Type 1, Fucosidosis Type 1s, Fucosidosis alpha Fucosidase Deficiency Disease alpha L Fucosidase Deficiency Disease alpha-Fucosidase Deficiency Disease alpha-Fucosidase Deficiency Diseases alpha-L-Fucosidase Deficiency alpha-L-Fucosidase Deficiency Disease alpha-L-Fucosidase Deficiency Diseases |
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| Código(s) hierárquico(s): |
C10.228.140.163.100.435.295 C16.320.565.189.435.295 C16.320.565.202.303 C16.320.565.595.554.295 C18.452.132.100.435.295 C18.452.648.189.435.295 C18.452.648.202.303 C18.452.648.595.554.295 |
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| Identificador Único RDF: | https://id.nlm.nih.gov/mesh/D005645 | ||||||
| Nota de escopo: | 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) |
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| Qualificadores permitidos: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Indexação Anterior: |
Carbohydrate Metabolism, Inborn Errors (1966-1984) Fucose (1966-1984) Fucosidase (1975-1984) |
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| Nota MeSH pública: | 1985 |
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| Nota histórica: | 1985 |
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| Veja também os descritores: |
alpha-L-Fucosidase
MeSH | ||||||
| Identificador DeCS: | 5780 | ||||||
| ID do descritor: | D005645 | ||||||
| Documentos indexados na Biblioteca Virtual em Saúde (BVS): | Clique aqui para acessar os documentos da BVS | ||||||
| Data de estabelecimento: | 01/01/1985 | ||||||
| Data de entrada: | 29/05/1984 | ||||||
| Data de revisão: | 28/06/2016 |
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Fucosidosis
- Conceito preferido
Fucosidosis Type I
- Mais específico
Fucosidosis Type II
- Mais específico
| Identificador do conceito |
M0008875 |
| Nota de escopo | 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) |
| Termo preferido | Fucosidosis |
| Termo(s) alternativo(s) |
Alpha-Fucosidase Deficiency Deficiency Disease, Fucosidase Deficiency Disease, alpha Fucosidase Deficiency Disease, alpha L Fucosidase Deficiency Disease, alpha-Fucosidase Deficiency Disease, alpha-L-Fucosidase Deficiency Diseases, Fucosidase Deficiency Diseases, alpha-Fucosidase Deficiency Diseases, alpha-L-Fucosidase Disease, Fucosidase Deficiency Disease, alpha-Fucosidase Deficiency Disease, alpha-L-Fucosidase Deficiency Diseases, Fucosidase Deficiency Diseases, alpha-Fucosidase Deficiency Diseases, alpha-L-Fucosidase Deficiency Fucosidase Deficiency Fucosidase Deficiency Disease Fucosidase Deficiency Diseases alpha Fucosidase Deficiency Disease alpha L Fucosidase Deficiency Disease alpha-Fucosidase Deficiency Disease alpha-Fucosidase Deficiency Diseases alpha-L-Fucosidase Deficiency alpha-L-Fucosidase Deficiency Disease alpha-L-Fucosidase Deficiency Diseases |
| Identificador do conceito |
M0335151 |
| Termo preferido | Fucosidosis Type I |
| Termo(s) alternativo(s) |
Fucosidosis Type 1 Fucosidosis Type 1s Fucosidosis, Infantile Infantile Fucosidosis Type 1, Fucosidosis Type 1s, Fucosidosis |
| Identificador do conceito |
M0335152 |
| Termo preferido | Fucosidosis Type II |
| Termo(s) alternativo(s) |
Fucosidosis, Juvenile Juvenile Fucosidosis |
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