Mitochondrial Dna Depletion Syndrome 11 (MTDPS11)

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Disease Ontology 12 DOID:0080129 OMIM 56 615084 OMIM Phenotypic Series 56 PS603041 MeSH 43 D017240 ICD10 via Orphanet 33 G71.3

Orphanet 58 ORPHA352447 MedGen 41 C3554462 CN165700 SNOMED-CT via HPO 68 102594003 11934000 129565002 16026008 193093009 195021004 228156007 229645001 230145002 247578003 248268002 252157006 255314001 258211005 267036007 267044007 267060006 271611007 288939007 289190003 298380006 370999003 399020009 405946002 40739000 409622000 409623005 414564002 422587007 44808001 46252003 47004009 62315008 64379006 698247007 91138005 95646004 95666008 more UMLS 71 C3554462

OMIM : ⁵⁶ Mitochondrial DNA depletion syndrome-11 is an autosomal recessive mitochondrial disorder characterized by onset in childhood or adulthood of progressive external ophthalmoplegia (PEO), muscle weakness and atrophy, exercise intolerance, and respiratory insufficiency due to muscle weakness. More variable features include spinal deformity, emaciation, and cardiac abnormalities. Skeletal muscle biopsies show deletion and depletion of mitochondrial DNA (mtDNA) with variable defects in respiratory chain enzyme activities (summary by Kornblum et al., 2013). For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (603041). (615084)

MalaCards based summary : Mitochondrial Dna Depletion Syndrome 11, also known as progressive external ophthalmoplegia-myopathy-emaciation syndrome, is related to mitochondrial dna depletion syndrome 2 and mitochondrial dna depletion syndrome 4a, and has symptoms including dyspnea and facial paresis. An important gene associated with Mitochondrial Dna Depletion Syndrome 11 is MGME1 (Mitochondrial Genome Maintenance Exonuclease 1), and among its related pathways/superpathways is Mitochondrial Gene Expression. Affiliated tissues include skeletal muscle and eye, and related phenotypes are progressive external ophthalmoplegia and kyphosis

Disease Ontology : ¹² A mitochondrial DNA depletion syndrome that is characterized by onset in childhood or adulthood of progressive external ophthalmoplegia (PEO), muscle weakness and atrophy, exercise intolerance, and respiratory insufficiency due to muscle weakness, and has material basis in autosomal recessive inheritance of homozygous mutation in the mitochondrial genome maintenance exonuclease 1 gene on chromosome 20p11.

UniProtKB/Swiss-Prot : ⁷³ Mitochondrial DNA depletion syndrome 11: An autosomal recessive mitochondrial disorder characterized by onset in childhood or adulthood of progressive external ophthalmoplegia, muscle weakness and atrophy, exercise intolerance, and respiratory insufficiency due to muscle weakness. More variable features include spinal deformity, emaciation, and cardiac abnormalities. Skeletal muscle biopsies show deletion and depletion of mitochondrial DNA (mtDNA) with variable defects in respiratory chain enzyme activities.

Clinical features from OMIM:

615084

Search Clinical Trials , NIH Clinical Center for Mitochondrial Dna Depletion Syndrome 11

Search GEO for disease gene expression data for Mitochondrial Dna Depletion Syndrome 11.