Disease #00570

Official abbreviation 500006
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 -