Visão selecionada em Inglês
| Descritor em português: | Doença de Depósito de Glicogênio Tipo II | ||||||
| Descritor em inglês: | Glycogen Storage Disease Type II | ||||||
| Descritor em espanhol: |
Enfermedad del Almacenamiento de Glucógeno Tipo II
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| Descritor em francês: | Glycogénose de type II | ||||||
| Termo(s) alternativo(s): |
Acid Alpha Glucosidase Deficiency Acid Alpha-Glucosidase Deficiencies Acid Alpha-Glucosidase Deficiency Acid Maltase Deficiencies Acid Maltase Deficiency Acid Maltase Deficiency Disease Adult Glycogen Storage Disease Type II Alpha 1,4 Glucosidase Deficiency Alpha-1,4-Glucosidase Deficiencies Alpha-1,4-Glucosidase Deficiency Alpha-Glucosidase Deficiencies Alpha-Glucosidase Deficiencies, Acid Alpha-Glucosidase Deficiency Alpha-Glucosidase Deficiency, Acid Deficiencies, Acid Alpha-Glucosidase Deficiencies, Acid Maltase Deficiencies, Alpha-1,4-Glucosidase Deficiencies, GAA Deficiency Disease, Acid Maltase Deficiency Disease, Lysosomal alpha-1,4-Glucosidase Deficiency of Alpha Glucosidase Deficiency of Alpha-Glucosidase Deficiency, Acid Alpha-Glucosidase Deficiency, Acid Maltase Deficiency, Alpha-1,4-Glucosidase Deficiency, GAA Disease, Pompe Disease, Pompe's GAA Deficiencies GAA Deficiency GSD II GSD2 GSD2s Generalized Glycogenoses Generalized Glycogenosis Glycogen Storage Disease II Glycogen Storage Disease Type 2 Glycogen Storage Disease Type II, Adult Glycogen Storage Disease Type II, Infantile Glycogen Storage Disease Type II, Juvenile Glycogenoses, Generalized Glycogenosis 2 Glycogenosis Type II Glycogenosis, Generalized Infantile Glycogen Storage Disease Type II Juvenile Glycogen Storage Disease Type II Lysosomal alpha 1,4 Glucosidase Deficiency Disease Lysosomal alpha-1,4-Glucosidase Deficiency Disease Maltase Deficiencies, Acid Pompe Disease Pompe's Disease Pompes Disease Type II, Glycogenosis Type IIs, Glycogenosis |
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| Código(s) hierárquico(s): |
C10.228.140.163.100.435.340 C16.320.565.189.435.340 C16.320.565.202.449.500 C16.320.565.595.554.340 C18.452.132.100.435.340 C18.452.648.189.435.340 C18.452.648.202.449.500 C18.452.648.595.554.340 |
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| Identificador Único RDF: | https://id.nlm.nih.gov/mesh/D006009 | ||||||
| Nota de escopo: | An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE deficiency. Large amounts of GLYCOGEN accumulate in the LYSOSOMES of skeletal muscle (MUSCLE, SKELETAL); HEART; LIVER; SPINAL CORD; and BRAIN. Three forms have been described: infantile, childhood, and adult. The infantile form is fatal in infancy and presents with hypotonia and a hypertrophic cardiomyopathy (CARDIOMYOPATHY, HYPERTROPHIC). The childhood form usually presents in the second year of life with proximal weakness and respiratory symptoms. The adult form consists of a slowly progressive proximal myopathy. (From Muscle Nerve 1995;3:S61-9; Menkes, Textbook of Child Neurology, 5th ed, pp73-4) |
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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: |
Glucosidases/metabolism (1966-1974) Glycogenosis (1966-1974) Heart Diseases (1966-1974) |
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| Nota MeSH pública: | 1989; see GLYCOGENOSIS 1975-88 |
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| Nota histórica: | 1989(1975); use GLYCOGENOSIS 1975-1988 |
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| Versão alternativa: | GLYCOGEN STORAGE DIS II |
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| Veja também os descritores: |
Glucan 1,4-alpha-Glucosidase
MeSH | ||||||
| Identificador DeCS: | 24392 | ||||||
| ID do descritor: | D006009 | ||||||
| Documentos indexados na Biblioteca Virtual em Saúde (BVS): | Clique aqui para acessar os documentos da BVS | ||||||
| Data de estabelecimento: | 01/01/1989 | ||||||
| Data de entrada: | 12/12/1974 | ||||||
| Data de revisão: | 08/07/2013 |
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Glycogen Storage Disease Type II
- Conceito preferido
Glycogen Storage Disease Type II, Juvenile
- Mais específico
Glycogen Storage Disease Type II, Infantile
- Mais específico
Acid Maltase Deficiency
- Relacionado, mas não mais amplo ou mais específico
Adult Glycogen Storage Disease Type II
- Mais específico
| Identificador do conceito |
M0009470 |
| Nota de escopo | An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE deficiency. Large amounts of GLYCOGEN accumulate in the LYSOSOMES of skeletal muscle (MUSCLE, SKELETAL); HEART; LIVER; SPINAL CORD; and BRAIN. Three forms have been described: infantile, childhood, and adult. The infantile form is fatal in infancy and presents with hypotonia and a hypertrophic cardiomyopathy (CARDIOMYOPATHY, HYPERTROPHIC). The childhood form usually presents in the second year of life with proximal weakness and respiratory symptoms. The adult form consists of a slowly progressive proximal myopathy. (From Muscle Nerve 1995;3:S61-9; Menkes, Textbook of Child Neurology, 5th ed, pp73-4) |
| Termo preferido | Glycogen Storage Disease Type II |
| Termo(s) alternativo(s) |
Acid Alpha Glucosidase Deficiency Acid Alpha-Glucosidase Deficiencies Acid Alpha-Glucosidase Deficiency Acid Maltase Deficiency Disease Alpha-Glucosidase Deficiencies Alpha-Glucosidase Deficiencies, Acid Alpha-Glucosidase Deficiency Alpha-Glucosidase Deficiency, Acid Deficiencies, Acid Alpha-Glucosidase Deficiencies, GAA Deficiency Disease, Acid Maltase Deficiency Disease, Lysosomal alpha-1,4-Glucosidase Deficiency of Alpha Glucosidase Deficiency of Alpha-Glucosidase Deficiency, Acid Alpha-Glucosidase Deficiency, GAA Disease, Pompe Disease, Pompe's GAA Deficiencies GAA Deficiency GSD II GSD2 GSD2s Generalized Glycogenoses Generalized Glycogenosis Glycogen Storage Disease II Glycogen Storage Disease Type 2 Glycogenoses, Generalized Glycogenosis 2 Glycogenosis Type II Glycogenosis, Generalized Lysosomal alpha 1,4 Glucosidase Deficiency Disease Lysosomal alpha-1,4-Glucosidase Deficiency Disease Pompe Disease Pompe's Disease Pompes Disease Type II, Glycogenosis Type IIs, Glycogenosis |
| Identificador do conceito |
M0335242 |
| Termo preferido | Glycogen Storage Disease Type II, Juvenile |
| Termo(s) alternativo(s) |
Juvenile Glycogen Storage Disease Type II |
| Identificador do conceito |
M0335241 |
| Termo preferido | Glycogen Storage Disease Type II, Infantile |
| Termo(s) alternativo(s) |
Infantile Glycogen Storage Disease Type II |
| Identificador do conceito |
M0535557 |
| Termo preferido | Acid Maltase Deficiency |
| Termo(s) alternativo(s) |
Acid Maltase Deficiencies Alpha 1,4 Glucosidase Deficiency Alpha-1,4-Glucosidase Deficiencies Alpha-1,4-Glucosidase Deficiency Deficiencies, Acid Maltase Deficiencies, Alpha-1,4-Glucosidase Deficiency, Acid Maltase Deficiency, Alpha-1,4-Glucosidase Maltase Deficiencies, Acid |
| Identificador do conceito |
M0335240 |
| Termo preferido | Adult Glycogen Storage Disease Type II |
| Termo(s) alternativo(s) |
Glycogen Storage Disease Type II, Adult |
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