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MCID: MTC078
MIFTS: 23
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Mitochondrial Dna Depletion Syndrome 11
Categories:
Genetic diseases, Neuronal diseases, Metabolic diseases, Rare diseases
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MalaCards integrated aliases for Mitochondrial Dna Depletion Syndrome 11:
Characteristics:Orphanet epidemiological data:59
progressive external ophthalmoplegia-myopathy-emaciation syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
progressive disorder variable age at onset (range first to fourth decade) HPO:32
mitochondrial dna depletion syndrome 11:
Onset and clinical course progressive Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases Anatomical: Neuronal diseases
ICD10:
34
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OMIM
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57
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, is also known as mtdps11, 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). Affiliated tissues include skeletal muscle, and related phenotypes are microcephaly and ptosis UniProtKB/Swiss-Prot : 75 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. |
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:615084Human phenotypes related to Mitochondrial Dna Depletion Syndrome 11:32 (show all 25)
UMLS symptoms related to Mitochondrial Dna Depletion Syndrome 11:dyspnea, facial paresis |
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MalaCards organs/tissues related to Mitochondrial Dna Depletion Syndrome 11:41
Skeletal Muscle
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Genes related to Mitochondrial Dna Depletion Syndrome 11 (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Dna Depletion Syndrome 11:75
ClinVar genetic disease variations for Mitochondrial Dna Depletion Syndrome 11:6
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Search
GEO
for disease gene expression data for Mitochondrial Dna Depletion Syndrome 11.
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