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 oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA (MONDO:0016793)
..Starting node ..maternally-inherited mitochondrial dystonia ()
Child Nodes:
Sister Nodes:
..hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation ()
..Leber hereditary optic neuropathy () L: 00072;
..Leber plus disease ()
..maternally-inherited diabetes and deafness () L: 00165;
..maternally-inherited Leigh syndrome ()
..maternally-inherited mitochondrial dystonia ()
..maternally-inherited mitochondrial myopathy ()
..MELAS syndrome () L: 00163;
..MERRF syndrome () L: 00162;
..mitochondrial non-syndromic sensorineural deafness () L: 00159;
..mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure () L: 00051;
..NARP syndrome () L: 00168;
..periodic paralysis with later-onset distal motor neuropathy ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	16806
Name:	maternally-inherited mitochondrial dystonia
Definition:	Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity.
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Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
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