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Descriptor English: Laminopathies
Descriptor Spanish: Laminopatías
Descriptor laminopatías
Entry term(s) enfermedades asociadas a la LMNA
enfermedades ligadas a la LMNA
Scope note: 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.
Descriptor Portuguese: Laminopatias
Descriptor French: Laminopathies
Entry term(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
Tree number(s): C16.320.488
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D000083083
Scope note: 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.
Allowable Qualifiers: 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
Previous Indexing: Cardiomyopathies (2002-2020)
Lamin Type A/genetics (2002-2020)
Neuromuscular Diseases (2002-2020)
Public MeSH Note: 2021
History Note: 2021
DeCS ID: 59368
Unique ID: D000083083
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 2021/01/01
Date of Entry: 2020/07/07
Revision Date: 2020/02/28
Laminopathies - Preferred
Concept UI M000678538
Scope note 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.
Preferred term Laminopathies
Entry term(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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