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Descriptor English: Sarcoglycanopathies
Descriptor Spanish: Sarcoglicanopatías
Descriptor sarcoglicanopatías
Scope note: Deficiencias o mutaciones de los genes de las subunidades del COMPLEJO SARCOGLICANO. Existen diversos fenotipos asociados a estas mutaciones, incluyendo un tipo de distrofia de la cintura escapular, cardiomiopatías e insuficiencia respiratoria.
Descriptor Portuguese: Sarcoglicanopatias
Descriptor French: Sarcoglycanopathies
Entry term(s): Adhalinopathies
Adhalinopathies, Primary
Adhalinopathy, Primary
Alpha Sarcoglycanopathies
Alpha Sarcoglycanopathy
Alpha-Sarcoglycanopathies
Alpha-Sarcoglycanopathy
Duchenne Like Autosomal Recessive Muscular Dystrophy, Type 2
Duchenne-Like Autosomal Recessive Muscular Dystrophy, Type 2
LGMD2D
Limb Girdle Muscular Dystrophy, Type 2D
Limb-Girdle Muscular Dystrophy, Type 2D
Muscular Dystrophy Limb Girdle with Alpha Sarcoglycan Deficiency
Muscular Dystrophy Limb-Girdle with Alpha-Sarcoglycan Deficiency
Muscular Dystrophy, Limb-Girdle, Type 2D
Primary Adhalinopathies
Primary Adhalinopathy
Sarcoglycanopathy
Tree number(s): C05.651.534.500.280.500
C08.618.923
C10.668.491.175.500.149.500
C14.280.238.812
C16.320.577.280.500
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D058088
Scope note: Deficiencies or mutations in the genes for the SARCOGLYCAN COMPLEX subunits. A variety of phenotypes are associated with these mutations including a subgroup of autosomal recessive limb girdle muscular dystrophies, cardiomyopathies, and respiratory deficiency.
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CN congenital
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
Public MeSH Note: 2011
History Note: 2011
DeCS ID: 53951
Unique ID: D058088
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 2011/01/01
Date of Entry: 2010/06/25
Revision Date: 2013/07/08
Sarcoglycanopathies - Preferred
Concept UI M0540771
Scope note Deficiencies or mutations in the genes for the SARCOGLYCAN COMPLEX subunits. A variety of phenotypes are associated with these mutations including a subgroup of autosomal recessive limb girdle muscular dystrophies, cardiomyopathies, and respiratory deficiency.
Preferred term Sarcoglycanopathies
Entry term(s) Sarcoglycanopathy
Alpha-Sarcoglycanopathies - Narrower
Concept UI M0540772
Scope note Limb girdle muscular dystrophies due to mutations in the gene for the ALPHA-SARCOGLYCAN or deficiencies in alpha-sarcoglycan due to a mutation in another gene (secondary alpha-sarcoglycanopathy).
Preferred term Alpha-Sarcoglycanopathies
Entry term(s) Adhalinopathies
Adhalinopathies, Primary
Adhalinopathy, Primary
Alpha Sarcoglycanopathies
Alpha Sarcoglycanopathy
Alpha-Sarcoglycanopathy
Duchenne Like Autosomal Recessive Muscular Dystrophy, Type 2
Duchenne-Like Autosomal Recessive Muscular Dystrophy, Type 2
LGMD2D
Limb Girdle Muscular Dystrophy, Type 2D
Limb-Girdle Muscular Dystrophy, Type 2D
Muscular Dystrophy Limb Girdle with Alpha Sarcoglycan Deficiency
Muscular Dystrophy Limb-Girdle with Alpha-Sarcoglycan Deficiency
Muscular Dystrophy, Limb-Girdle, Type 2D
Primary Adhalinopathies
Primary Adhalinopathy



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