Pesquisa
Descritor em português: Laminopatias
Descritor em inglês: Laminopathies
Descritor em espanhol: Laminopatías
Descritor laminopatías
Termo(s) alternativo(s) enfermedades asociadas a la LMNA
enfermedades ligadas a la LMNA
Nota de escopo: Enfermedades de distrofia neuromuscular y muscular congénita asociadas a mutaciones en la LAMINA DE TIPO A (gen lamina A/C o LMNA). Comprenden la MIOCARDIOPATÍA DILATADA de tipo 1A, la ENFERMEDAD DE CHARCOT-MARIE-TOOTH de tipo 2B1, la DISTROFIA MUSCULAR DE EMERY-DREIFUSS de tipos 2 y 3, el síndrome de PROGERIA de Hutchinson-Gilford, la LIPODISTROFIA FAMILIAR PARCIAL de tipo 2, el síndrome de Malouf, la displasia mandibuloacral, la distrofia muscular relacionada con el gen LMNA, la dermopatía restrictiva mortal y el síndrome corazón-mano tipo esloveno.
Descritor em francês: Laminopathies
Termo(s) alternativo(s): Disease, LMNA-Associated
Disease, LMNA-Linked
LMNA Associated Diseases
LMNA Linked Diseases
LMNA-Associated Disease
LMNA-Associated Diseases
LMNA-Linked Disease
LMNA-Linked Diseases
Laminopathy
Código(s) hierárquico(s): C16.320.488
Identificador Único RDF: https://id.nlm.nih.gov/mesh/D000083083
Nota de escopo: Congenital neuromuscular and muscular dystrophy diseases associated with mutations in the LAMIN TYPE A (Lamin A/C or LMNA gene). It includes CARDIOMYOPATHY, DILATED, 1A; CHARCOT-MARIE-TOOTH DISEASE, type 2B1; EMERY-DREIFUSS MUSCULAR DYSTROPHY, types 2 and 3; HUTCHINSON-GILFORD PROGERIA SYNDROME; LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; Malouf syndrome; Mandibuloacral dysplasia; LMNA-related muscular dystrophy; Restrictive dermopathy, lethal; Heart-hand syndrome, Slovenian type.
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
Indexação Anterior: Cardiomyopathies (2002-2020)
Lamin Type A/genetics (2002-2020)
Neuromuscular Diseases (2002-2020)
Nota MeSH pública: 2021
Nota histórica: 2021
Identificador DeCS: 59368
ID do descritor: D000083083
Documentos indexados na Biblioteca Virtual em Saúde (BVS): Clique aqui para acessar os documentos da BVS
Data de estabelecimento: 01/01/2021
Data de entrada: 07/07/2020
Data de revisão: 28/02/2020
Laminopathies - Conceito preferido
Identificador do conceito M000678538
Nota de escopo Congenital neuromuscular and muscular dystrophy diseases associated with mutations in the LAMIN TYPE A (Lamin A/C or LMNA gene). It includes CARDIOMYOPATHY, DILATED, 1A; CHARCOT-MARIE-TOOTH DISEASE, type 2B1; EMERY-DREIFUSS MUSCULAR DYSTROPHY, types 2 and 3; HUTCHINSON-GILFORD PROGERIA SYNDROME; LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; Malouf syndrome; Mandibuloacral dysplasia; LMNA-related muscular dystrophy; Restrictive dermopathy, lethal; Heart-hand syndrome, Slovenian type.
Termo preferido Laminopathies
Termo(s) alternativo(s) Disease, LMNA-Associated
Disease, LMNA-Linked
LMNA Associated Diseases
LMNA Linked Diseases
LMNA-Associated Disease
LMNA-Associated Diseases
LMNA-Linked Disease
LMNA-Linked Diseases
Laminopathy



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