SGCD, sarcoglycan delta, 6444

N. diseases: 68; N. variants: 35
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.160 GeneticVariation disease BEFREE The hereditary cardiomyopathic hamster of the UM-X7.1 strain is a particular experimental model of heart failure (HF) leading to early death in muscular dystrophy (dystrophin deficiency and sarcoglycan mutation) and heart disease (δ-sarcoglycan deficiency and dystrophin mutation) in human DMD. 28727929 2017
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.160 Biomarker disease BEFREE SERCA2a gene therapy can improve symptomatic heart failure in δ-sarcoglycan-deficient animals. 24645914 2014
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.160 Biomarker disease BEFREE Here, we show that systemic delivery and muscle-specific overexpression of human MG53 gene by recombinant adeno-associated virus (AAV) vectors enhanced membrane repair, ameliorated pathology, and improved muscle and heart functions in δ-sarcoglycan (δ-SG)-deficient TO-2 hamsters, an animal model of MD and congestive heart failure. 22314291 2012
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.160 GeneticVariation disease BEFREE As a proof of concept we examined the effects of the expression of a human mutant delta-sarcoglycan associated with familial heart failure and observed a reversible, post-developmental dilated cardiomyopathy in Drosophila. 19771157 2009
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.160 GeneticVariation disease BEFREE The hamster strain CHF147 presents a progressive dilated cardiomyopathy (DCM) due to a large deletion of the delta-sarcoglycan gene that leads to heart failure. 16779861 2006
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.160 GeneticVariation disease BEFREE Cardiomyopathic (CM) hamsters have a disruption in the delta-sarcoglycan gene which leads to progressive cardiac necrosis by 30 to 40 days of age, hypertrophy by 120 days, and heart failure by 250 days. 10623582 2000
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.160 Biomarker disease HPO