Disease #00570
| Official abbreviation |
500006 |
| Name |
500006 CARDIOMYOPATHY, INFANTILE HYPERTROPHIC |
| OMIM ID |
500006 |
| Human Phenotype Ontology Project (HPO) |
HPO |
| Individuals reported having this disease |
0 |
| Phenotype entries for this disease |
0 |
| Associated with 2 genes |
MT-ATP6, MT-ATP8 |
| Associated tissues |
- |
| Disease features |
Evidence that infantile hypertrophic cardiomyopathy can be caused by mutation in the overlapping MTATP6 (516060) and MTATP8 (516070) genes.
▼ Molecular Genetics
In 4 unrelated infants who presented with isolated hypertrophic cardiomyopathy and congestive heart failure and who later developed severe feeding difficulties and failure to thrive, Ware et al. (2009) identified an 8528T-C transition, resulting in concurrent changes in the overlapping MTATP6 and MTATP8 genes, M1T (516060.0010) and W55R (516070.0003), respectively. Ware et al. (2009) stated that this was the first description of a mitochondrial mutation affecting both complex V genes. |
| Remarks |
- |
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