Details of Disease | DrugMAP

General Information of Disease (ID: DISGJJ69)

Disease Name	Mitochondrial DNA depletion syndrome 11
Synonyms	MTDPS11; progressive external ophthalmoplegia-myopathy-emaciation syndrome; MGME1 mitochondrial DNA depletion syndrome; mtDNA maintenance syndrome due to MGME1 deficiency; mitochondrial DNA depletion syndrome 11; mitochondrial DNA depletion syndrome caused by mutation in MGME1; PEO-myopathy-emaciation syndrome; mitochondrial DNA depletion syndrome type 11; mitochondrial DNA maintenance syndrome due to MGME1 deficiency
Definition	Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported.
Disease Hierarchy	DISIGZSM: Mitochondrial DNA depletion syndrome DISGJJ69: Mitochondrial DNA depletion syndrome 11
Disease Identifiers	MONDO ID MONDO_0014039 UMLS CUI C3554462 OMIM ID 615084 MedGen ID 767376 Orphanet ID 352447

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MGME1	OTC5LPXX	Strong	Autosomal recessive	[1]
OVOL2	OTFM1GKF	Strong	CausalMutation	[2]
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References

1	Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease. Nat Genet. 2013 Feb;45(2):214-9. doi: 10.1038/ng.2501. Epub 2013 Jan 13.
2	Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia.Eur J Med Genet. 2017 Oct;60(10):533-535. doi: 10.1016/j.ejmg.2017.07.010. Epub 2017 Jul 12.