All diseases

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8 entries on 1 page. Showing entries 1 - 8.

ID	Abbreviation	Name	OMIM ID	Associated with genes	Associated tissues	Disease features
00157	500003	STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL	500003	MT-ATP6	-	-
00570	500006	500006 CARDIOMYOPATHY, INFANTILE HYPERTROPHIC	500006	MT-ATP6, MT-ATP8	-	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.
00571	500010	500010 ATAXIA AND POLYNEUROPATHY, ADULT-ONSET	500010	MT-ATP6	-	Evidence that adult-onset ataxia and polyneuropathy can be caused by mutation in the MTATP6 gene (516060).
00655	500015	Mitochondrial complex v (atp synthase) deficiency, mitochondrial type 1	500015	MT-ATP6	-	-
00072	LHON	LEBER OPTIC ATROPHY, LEBER HEREDITARY OPTIC NEUROPATHY; DOID:705	535000	, MT-ATP6, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND4, MT-ND4L, MT-ND5, MT-ND6	-	-
00572	MLASA3	500011 MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3; MLASA3	500011	MT-ATP6	-	Evidence that myopathy, lactic acidosis, and sideroblastic anemia-3 (MLASA3) is caused by heteroplasmic mutation in the mitochondrial-encoded ATP6 gene (MTATP6; 516060). One such patient has been reported. ▼ Description MLASA3 is a severe mitochondrial disorder with early infantile presentation of transfusion-dependent sideroblastic anemia in the setting of failure to thrive, hearing loss, epilepsy, stroke-like episodes, and severe developmental delay (summary by Burrage et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of MLASA, see MLASA1 (600462)
00141	MTATP6	ATP SYNTHASE 6;;MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1, INCLUDED	516060	, MT-ATP6	-	-
00168	NARP SYNDROME	NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA;NARP SYNDROME	551500	MT-ATP6	-	-