PedAM

Pediatric Disease Annotations & Medicines

Disease	cardiomyopathy
Phenotype	C0004134\|ataxia
Sentences	15
PubMedID- 20053669	Thus, our study underlines the possible molecular mechanism for the physiological symptoms of dilated cardiomyopathy with ataxia (dcm) syndrome which is associated with a truncated dnajc19 protein.
PubMedID- 22078220	Although friedreich ataxia (fa) is associated with cardiomyopathy, the severity and evolution of cardiac disease is poorly understood.
PubMedID- 26115894	In barth syndrome and dilated cardiomyopathy with ataxia syndrome, 2-eha is a byproduct of impeded propionyl coa entry into the krebs cycle.
PubMedID- 25687499	Hypertrophic cardiomyopathy associated with friedreich's ataxia is progressive, and there are few, if any, effective treatments available at present.
PubMedID- 26231844	For example, hereditary hemochromatosis leads to the development of cardiomyopathy,12 and patients with friedrich’s ataxia develop progressive and lethal cardiomyopathy that is characterized by mitochondrial accumulation of iron and extensive oxidative damage.13,14 furthermore, cardiomyopathy in thalassemia major patients with iron overload due to regular blood transfusions is attributed to reactive oxygen species (ros) generation due to intracardiac iron accumulation.15–17 in addition, mice with cardiac-specific overexpression of the alpha subunit of the gq protein develop cardiomyopathy and significant cardiac accumulation of iron.18 finally, our lab has shown that mice with genetic deletion of a mitochondrial iron export protein display mitochondrial iron accumulation and cardiomyopathy.19 therefore, maintenance of iron and iron-containing compounds within the heart is critical for cardiac function.
PubMedID- 21055653	Iron-induced cardiovascular injury also occurs in acute iron toxicosis (iron poisoning), myocardial ischemia-reperfusion injury, cardiomyopathy associated with friedreich ataxia, and vascular dysfunction.
PubMedID- 20396601	Dilated cardiomyopathy with ataxia (dcma) is caused by a mutation in dnajc19, which is thought to be a homolog of yeast tim14 [76].
PubMedID- 21403887	The 10398a appears to increase the risk of parkinson's disease [56], alzheimer's disease [57], and amyotrophic lateral sclerosis [58], but in contrast it protects against cardiomyopathy in patients with friedreich's ataxia [59].
PubMedID- 20882351	The 3-mga-uria type v, or dilated cardiomyopathy with ataxia (dcma) syndrome, is a novel autosomal recessive condition with early-onset dilated cm with conduction defects and nonprogressive cerebellar ataxia in 18 patients of the canadian dariusleut hutterite population, further characterized by testicular dysgenesis and growth failure (davey et al.
PubMedID- 23886890	The condition is characterized by ataxia with fatal cardiomyopathy, but the pathogenic mechanisms are unclear.
PubMedID- 21985033	Finally, the striking similarity of the symptoms in vitamin e deficiency and frataxin deficiency [34], both encompassing cerebellar ataxia with inconsistent cardiomyopathy [35], suggests similar cellular consequences of frataxin and vitamin e depletion.
PubMedID- 21112411	Dilated cardiomyopathy with ataxia (dcma) or 3-methylglutaconic aciduria, type v (omim 610198) is an autosomal recessive disorder found in the dariusleut hutterite population of canada and the northern united states.
PubMedID- 26301254	Dilated cardiomyopathy with ataxia (dcma) syndrome is an autosomal recessive genetic disorder that is characterized by early onset dilated cardiomyopathy with conduction defects, nonprogressive cerebellar ataxia, testicular dysgenesis, growth failure, and 3-methylglutaconic aciduria [100].
PubMedID- 24856930	Here, we have defined the interactome of phb2 in mitochondria and identified dnajc19, mutated in dilated cardiomyopathy with ataxia, as binding partner of phb complexes.
PubMedID- 24786642	Mutations in dnajc19 preventing magmas/dnajc19 dimerization have been shown to lead to dilated cardiomyopathy with ataxia syndrome (dcma) [26], [27].

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