MTDPS11
MCID: MTC078
MIFTS: 37
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Mitochondrial Dna Depletion Syndrome 11 (MTDPS11)
Categories:
Bone diseases, Cardiovascular diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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MalaCards integrated aliases for Mitochondrial Dna Depletion Syndrome 11:
Characteristics:Orphanet epidemiological data:58
progressive external ophthalmoplegia-myopathy-emaciation syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
progressive disorder variable age at onset (range first to fourth decade) HPO:31
mitochondrial dna depletion syndrome 11:
Inheritance autosomal recessive inheritance Onset and clinical course progressive Classifications:
MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases Anatomical: Neuronal diseases Eye diseases Liver diseases Nephrological diseases Respiratory diseases Bone diseases Muscle diseases Gastrointestinal diseases Cardiovascular diseases
ICD10:
33
Orphanet: 58
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OMIM® :
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) (Updated 05-Mar-2021)
MalaCards based summary : Mitochondrial Dna Depletion Syndrome 11, also known as progressive external ophthalmoplegia-myopathy-emaciation syndrome, is related to mitochondrial dna depletion syndrome and mitochondrial dna depletion syndrome 2, 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 eye and skeletal muscle, and related phenotypes are progressive external ophthalmoplegia and ptosis 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. |
Human phenotypes related to Mitochondrial Dna Depletion Syndrome 11:58 31 (show all 36)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:615084 (Updated 05-Mar-2021)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 11:40
Eye,
Skeletal Muscle
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Articles related to Mitochondrial Dna Depletion Syndrome 11:
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ClinVar genetic disease variations for Mitochondrial Dna Depletion Syndrome 11:6
UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Dna Depletion Syndrome 11:73
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Search
GEO
for disease gene expression data for Mitochondrial Dna Depletion Syndrome 11.
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Cellular components related to Mitochondrial Dna Depletion Syndrome 11 according to GeneCards Suite gene sharing:
Biological processes related to Mitochondrial Dna Depletion Syndrome 11 according to GeneCards Suite gene sharing:
Molecular functions related to Mitochondrial Dna Depletion Syndrome 11 according to GeneCards Suite gene sharing:
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