MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: mitochondrial disease with hypertrophic cardiomyopathy (MONDO:0016327)
..Starting node ..maternally-inherited cardiomyopathy and hearing loss ()
Child Nodes:
Sister Nodes:
..acyl-CoA dehydrogenase 9 deficiency () L: 00419;
..cardiomyopathy-hypotonia-lactic acidosis syndrome () L: 00040;
..combined oxidative phosphorylation defect type 17 () L: 00513;
..combined oxidative phosphorylation defect type 23 () L: 00516;
..encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome () L: 00448;
..fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency ()
..hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation ()
..infantile hypertrophic cardiomyopathy due to MRPL44 deficiency () L: 00080;
..Leber hereditary optic neuropathy () L: 00072;
..Leber plus disease ()
..maternally-inherited cardiomyopathy and hearing loss ()
..MELAS syndrome () L: 00163;
..MERRF syndrome () L: 00162;
..mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency () L: 00093;
..mitochondrial trifunctional protein deficiency () L: 00417;
..neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome () L: 00639;
..optic atrophy-peripheral neuropathy-developmental delay syndrome ()
..Sengers syndrome () L: 00403;
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	15283
Name:	maternally-inherited cardiomyopathy and hearing loss
Definition:	Maternally inherited cardiomyopathy and hearing loss is a mitochondrial disease described in two unrelated families to date that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	maternally-inherited cardiomyopathy and deafness; tRNA-LYS-related cardiomyopathy-hearing loss syndrome
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal