Sarcoglycanopathies [sarkoglykanopatie]

topical
2
Terms

alfa-sarkoglykanopatie
LGMD2D
pletencová svalová dystrofie způsobená deficitem alfa-sarkoglykanu
svalová dystrofie končetinového pletence typu 2D
svalová dystrofie pletencová, typ 2D

 

Adhalinopathies
Adhalinopathy, Primary
Alpha-Sarcoglycanopathies
Alpha-Sarcoglycanopathy
Duchenne-Like Autosomal Recessive Muscular Dystrophy, Type 2
LGMD2D
Limb-Girdle Muscular Dystrophy, Type 2D
Muscular Dystrophy Limb-Girdle with Alpha-Sarcoglycan Deficiency
Muscular Dystrophy, Limb-Girdle, Type 2D
Sarcoglycanopathy

Persistent link   https://www.medvik.cz/link/D058088
Definition

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.

DUI
D058088 MeSH Browser
CUI
M0540771
History note
2011
Public note
2011

Allowable subheadings

BL
blood
CF
cerebrospinal fluid
CI
chemically induced
CL
classification
CO
complications
CN
congenital
DI
diagnosis 1
DG
diagnostic imaging
DH
diet therapy
DT
drug therapy
EC
economics
EM
embryology
EN
enzymology
EP
epidemiology 1
EH
ethnology
ET
etiology
GE
genetics 2
HI
history
IM
immunology
ME
metabolism
MI
microbiology
MO
mortality
NU
nursing
PS
parasitology
PA
pathology
PP
physiopathology
PC
prevention & control
PX
psychology
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy
UR
urine
VE
veterinary
VI
virology

C Diseases
C05 Musculoskeletal Diseases 1 120
C05.651 Muscular Diseases 553
C05.651.534 Muscular Disorders, Atrophic 45
C05.651.534.500 Muscular Dystrophies 140
C05.651.534.500.280 Muscular Dystrophies, Limb-Girdle 22
C05.651.534.500.280.500 Sarcoglycanopathies 2
C08 Respiratory Tract Diseases 2 218
C08.618 Respiration Disorders 587
C08.618.009 Acute Chest Syndrome 2
C08.618.020 Altitude Sickness 60
C08.618.085 Apnea 175
C08.618.182 Cheyne-Stokes Respiration 6
C08.618.248 Cough 948
C08.618.326 Dyspnea 739
C08.618.490 Hoarseness 50
C08.618.501 Hyperventilation 115
C08.618.580 Meconium Aspiration Syndrome 35
C08.618.659 Mouth Breathing 14
C08.618.749 Respiratory Aspiration 78
C08.618.840 Respiratory Distress Syndrome 223
C08.618.846 Respiratory Insufficiency 783
C08.618.923 Sarcoglycanopathies 2
C08.618.961 Tachypnea 9
C08.618.980 Vocal Cord Dysfunction 4
C10 Nervous System Diseases 1 878
C10.668 Neuromuscular Diseases 330
C10.668.491 Muscular Diseases 553
C10.668.491.175 Muscular Disorders, Atrophic 45
C10.668.491.175.500 Muscular Dystrophies 140
C10.668.491.175.500.149 Muscular Dystrophies, Limb-Girdle 22
C10.668.491.175.500.149.500 Sarcoglycanopathies 2
C14 Cardiovascular Diseases 10 507
C14.280 Heart Diseases 2 867
C14.280.238 Cardiomyopathies 1 057
C14.280.238.028 Arrhythmogenic Right Ventricular Dysplasia 60
C14.280.238.057 Cardiomyopathy, Alcoholic 16
C14.280.238.070 Cardiomyopathy, Dilated 340
C14.280.238.100 Cardiomyopathy, Hypertrophic 505
C14.280.238.160 Cardiomyopathy, Restrictive 71
C14.280.238.190 Chagas Cardiomyopathy 5
C14.280.238.235 Diabetic Cardiomyopathies 68
C14.280.238.281 Endocardial Fibroelastosis 20
C14.280.238.406 Endomyocardial Fibrosis 31
C14.280.238.458 Glycogen Storage Disease Type IIb 11
C14.280.238.510 Kearns-Sayre Syndrome 11
C14.280.238.615 Myocardial Reperfusion Injury 225
C14.280.238.625 Myocarditis 377
C14.280.238.719 Peripartum Cardiomyopathy
C14.280.238.812 Sarcoglycanopathies 2
C14.280.238.906 Takotsubo Cardiomyopathy 76
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.320 Genetic Diseases, Inborn 1 213
C16.320.577 Muscular Dystrophies 140
C16.320.577.280 Muscular Dystrophies, Limb-Girdle 22
C16.320.577.280.500 Sarcoglycanopathies 2

Limb-girdle muscular dystrophy type 2F Disease MeSH Browser

Limb-girdle muscular dystrophy, type 2C Disease MeSH Browser

Limb-girdle muscular dystrophy, type 2E Disease MeSH Browser

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