eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | ataxia |
| Comorbidity | C0878544|cardiomyopathy |
| Sentences | 12 |
| 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- 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- 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- 24786642 | Mutations in dnajc19 preventing magmas/dnajc19 dimerization have been shown to lead to dilated cardiomyopathy with ataxia syndrome (dcma) [26], [27]. |
| 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- 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- 22078220 | Although friedreich ataxia (fa) is associated with cardiomyopathy, the severity and evolution of cardiac disease is poorly understood. |
| 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- 23886890 | The condition is characterized by ataxia with fatal cardiomyopathy, but the pathogenic mechanisms are unclear. |
| 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. |
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