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: inborn mitochondrial myopathy (MONDO:0009637)
Parent Node: mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA (MONDO:0016792)
..Starting node ..adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy ()
Child Nodes:
........progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 () L: 00534;
Sister Nodes:
..adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy ()
..chronic diarrhea with villous atrophy () L: 00164;
..Kearns-Sayre syndrome () L: 00143;
..maternally-inherited progressive external ophthalmoplegia ()
..Pearson syndrome () L: 00169;
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	18002
Name:	adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Definition:	adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy is a rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	adult-onset CPEO with mitochondrial myopathy
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal