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Descritor em português: | Lipofuscinoses Ceroides Neuronais | ||||||
Descritor em inglês: | Neuronal Ceroid-Lipofuscinoses | ||||||
Descritor em espanhol: |
Lipofuscinosis Ceroideas Neuronales
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Descritor em francês: | Céroïdes-lipofuscinoses neuronales | ||||||
Termo(s) alternativo(s): |
Adult Neuronal Ceroid Lipofuscinosis Amaurotic Idiocy, Adult Type Batten Disease Batten Disease, Juvenile Batten Diseases, Juvenile Batten Mayou Disease Batten Spielmeyer Vogt Disease Batten-Mayou Disease Batten-Spielmeyer-Vogt Disease CLN3 Related Neuronal Ceroid Lipofuscinosis CLN3-Related Neuronal Ceroid-Lipofuscinoses CLN3-Related Neuronal Ceroid-Lipofuscinosis CLN4A CLN4As CLN4B Cerebroretinal Degeneration, Juvenile Cerebroretinal Degenerations, Juvenile Ceroid Lipofuscinosis, Neuronal Ceroid Lipofuscinosis, Neuronal 3, Juvenile Ceroid Lipofuscinosis, Neuronal 4 Ceroid Lipofuscinosis, Neuronal, 3 Ceroid Lipofuscinosis, Neuronal, 4A, Autosomal Recessive Ceroid Lipofuscinosis, Neuronal, 4B, Autosomal Dominant Ceroid Lipofuscinosis, Neuronal, Parry Type Ceroid Storage Disease Ceroid Storage Diseases Ceroid-Lipofuscinoses, CLN3-Related Neuronal Ceroid-Lipofuscinosis, CLN3-Related Neuronal Ceroid-Lipofuscinosis, Neuronal Disease, Ceroid Storage Disease, Juvenile Batten Disease, Kuf's Disease, Lipofuscin Storage Disease, Spielmeyer-Sjogren Disease, Vogt Spielmeyer Disease, Vogt-Spielmeyer Diseases, Ceroid Storage Diseases, Juvenile Batten Diseases, Lipofuscin Storage Infantile Neuronal Ceroid Lipofuscinosis Jansky Bielschowsky Disease Jansky-Bielschowsky Disease Juvenile Batten Disease Juvenile Batten Diseases Juvenile Cerebroretinal Degeneration Juvenile Cerebroretinal Degenerations Juvenile Neuronal Ceroid Lipofuscinosis Kuf Disease Kuf's Disease Kufs Disease Kufs Disease Autosomal Recessive Kufs Disease, Autosomal Dominant Kufs Disease, Autosomal Recessive Kufs Type Neuronal Ceroid Lipofuscinosis Late-Infantile Neuronal Ceroid Lipofuscinosis Lipofuscin Storage Disease Lipofuscin Storage Diseases Lipofuscinosis, Neuronal Ceroid Neuronal Ceroid Lipofuscinoses Neuronal Ceroid Lipofuscinosis Neuronal Ceroid Lipofuscinosis Juvenile Type Neuronal Ceroid Lipofuscinosis, Adult Neuronal Ceroid Lipofuscinosis, Adult Type Neuronal Ceroid Lipofuscinosis, Infantile Neuronal Ceroid Lipofuscinosis, Juvenile Neuronal Ceroid Lipofuscinosis, Late Infantile Neuronal Ceroid Lipofuscinosis, Late-Infantile Neuronal Ceroid-Lipofuscinoses, CLN3-Related Neuronal Ceroid-Lipofuscinosis Neuronal Ceroid-Lipofuscinosis, CLN3-Related Santavuori Haltia Disease Santavuori-Haltia Disease Spielmeyer Disease, Vogt Spielmeyer Sjogren Disease Spielmeyer Vogt Disease Spielmeyer-Sjogren Disease Spielmeyer-Vogt Disease Storage Disease, Ceroid Storage Disease, Lipofuscin Storage Diseases, Ceroid Storage Diseases, Lipofuscin Vogt Spielmeyer Disease Vogt-Spielmeyer Disease |
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Código(s) hierárquico(s): |
C10.574.500.550 C16.320.400.600 C16.320.565.398.641.509 C18.452.584.563.641.509 C18.452.648.398.641.509 |
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Identificador Único RDF: | https://id.nlm.nih.gov/mesh/D009472 | ||||||
Nota de escopo: | A group of severe neurodegenerative diseases characterized by intracellular accumulation of autofluorescent wax-like lipid materials (CEROID; LIPOFUSCIN) in neurons. There are several subtypes based on mutations of the various genes, time of disease onset, and severity of the neurological defects such as progressive DEMENTIA; SEIZURES; and visual failure. |
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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: |
Ceroid (1975-1982) Lipofuscin (1975-1982) Lipoidosis (1966-1982) Pigments (1966-1982) |
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Nota MeSH pública: | 2007; see NEURONAL CEROID-LIPOFUSCINOSIS 1983-2006 |
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Nota histórica: | 2007 (1983) |
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Identificador DeCS: | 9664 | ||||||
ID do descritor: | D009472 | ||||||
Classificação da NLM: | WD 205.5.L5 | ||||||
Documentos indexados na Biblioteca Virtual em Saúde (BVS): | Clique aqui para acessar os documentos da BVS | ||||||
Data de estabelecimento: | 01/01/1983 | ||||||
Data de entrada: | 28/04/1982 | ||||||
Data de revisão: | 29/06/2018 |
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Neuronal Ceroid-Lipofuscinoses
- Conceito preferido
Infantile Neuronal Ceroid Lipofuscinosis
- Mais específico
Juvenile Neuronal Ceroid Lipofuscinosis
- Mais específico
Adult Neuronal Ceroid Lipofuscinosis
- Mais específico
Ceroid Lipofuscinosis, Neuronal, 4B, Autosomal Dominant
- Mais específico
Late-Infantile Neuronal Ceroid Lipofuscinosis
- Mais específico
Ceroid Lipofuscinosis, Neuronal, 4A, Autosomal Recessive
- Mais específico
Identificador do conceito |
M0014734 |
Nota de escopo | A group of severe neurodegenerative diseases characterized by intracellular accumulation of autofluorescent wax-like lipid materials (CEROID; LIPOFUSCIN) in neurons. There are several subtypes based on mutations of the various genes, time of disease onset, and severity of the neurological defects such as progressive DEMENTIA; SEIZURES; and visual failure. |
Termo preferido | Neuronal Ceroid-Lipofuscinoses |
Termo(s) alternativo(s) |
Ceroid Lipofuscinosis, Neuronal Ceroid Storage Disease Ceroid Storage Diseases Ceroid-Lipofuscinosis, Neuronal Disease, Ceroid Storage Disease, Lipofuscin Storage Diseases, Ceroid Storage Diseases, Lipofuscin Storage Lipofuscin Storage Disease Lipofuscin Storage Diseases Lipofuscinosis, Neuronal Ceroid Neuronal Ceroid Lipofuscinoses Neuronal Ceroid Lipofuscinosis Neuronal Ceroid-Lipofuscinosis Storage Disease, Ceroid Storage Disease, Lipofuscin Storage Diseases, Ceroid Storage Diseases, Lipofuscin |
Identificador do conceito |
M0337073 |
Nota de escopo | This type is caused by mutation in the gene (CLN1or PPT1) encoding palmitoyl-protein thioesterase (THIOLESTER HYDROLASES), an enzyme involved in catabolism of lipid-modified proteins. |
Termo preferido | Infantile Neuronal Ceroid Lipofuscinosis |
Termo(s) alternativo(s) |
Neuronal Ceroid Lipofuscinosis, Infantile Santavuori Haltia Disease Santavuori-Haltia Disease |
Identificador do conceito |
M0014731 |
Nota de escopo | This type is caused by mutation in the CLN3 gene encoding a lysosomal integral membrane protein (Battenin). |
Termo preferido | Juvenile Neuronal Ceroid Lipofuscinosis |
Termo(s) alternativo(s) |
Batten Disease Batten Disease, Juvenile Batten Diseases, Juvenile Batten Mayou Disease Batten Spielmeyer Vogt Disease Batten-Mayou Disease Batten-Spielmeyer-Vogt Disease CLN3 Related Neuronal Ceroid Lipofuscinosis CLN3-Related Neuronal Ceroid-Lipofuscinoses CLN3-Related Neuronal Ceroid-Lipofuscinosis Cerebroretinal Degeneration, Juvenile Cerebroretinal Degenerations, Juvenile Ceroid Lipofuscinosis, Neuronal 3, Juvenile Ceroid Lipofuscinosis, Neuronal, 3 Ceroid-Lipofuscinoses, CLN3-Related Neuronal Ceroid-Lipofuscinosis, CLN3-Related Neuronal Disease, Juvenile Batten Disease, Spielmeyer-Sjogren Disease, Vogt Spielmeyer Disease, Vogt-Spielmeyer Diseases, Juvenile Batten Juvenile Batten Disease Juvenile Batten Diseases Juvenile Cerebroretinal Degeneration Juvenile Cerebroretinal Degenerations Neuronal Ceroid Lipofuscinosis Juvenile Type Neuronal Ceroid Lipofuscinosis, Juvenile Neuronal Ceroid-Lipofuscinoses, CLN3-Related Neuronal Ceroid-Lipofuscinosis, CLN3-Related Spielmeyer Disease, Vogt Spielmeyer Sjogren Disease Spielmeyer Vogt Disease Spielmeyer-Sjogren Disease Spielmeyer-Vogt Disease Vogt Spielmeyer Disease Vogt-Spielmeyer Disease |
Identificador do conceito |
M0014733 |
Termo preferido | Adult Neuronal Ceroid Lipofuscinosis |
Termo(s) alternativo(s) |
Amaurotic Idiocy, Adult Type Ceroid Lipofuscinosis, Neuronal 4 Disease, Kuf's Kuf Disease Kuf's Disease Kufs Disease Kufs Type Neuronal Ceroid Lipofuscinosis Neuronal Ceroid Lipofuscinosis, Adult Neuronal Ceroid Lipofuscinosis, Adult Type |
Identificador do conceito |
M0563818 |
Termo preferido | Ceroid Lipofuscinosis, Neuronal, 4B, Autosomal Dominant |
Termo(s) alternativo(s) |
CLN4B Ceroid Lipofuscinosis, Neuronal, Parry Type Kufs Disease, Autosomal Dominant |
Identificador do conceito |
M0014732 |
Nota de escopo | This type is caused by mutation in the CLN2 gene encoding tripeptidyl-peptidase I, a lysosomal serine protease. |
Termo preferido | Late-Infantile Neuronal Ceroid Lipofuscinosis |
Termo(s) alternativo(s) |
Jansky Bielschowsky Disease Jansky-Bielschowsky Disease Neuronal Ceroid Lipofuscinosis, Late Infantile Neuronal Ceroid Lipofuscinosis, Late-Infantile |
Identificador do conceito |
M000748665 |
Termo preferido | Ceroid Lipofuscinosis, Neuronal, 4A, Autosomal Recessive |
Termo(s) alternativo(s) |
CLN4A CLN4As Kufs Disease Autosomal Recessive Kufs Disease, Autosomal Recessive |
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