MTDPS2
MCID: MTC062
MIFTS: 30
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Mitochondrial Dna Depletion Syndrome 2 (MTDPS2)
Categories:
Bone diseases, Cardiovascular diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Mitochondrial Dna Depletion Syndrome 2:
Characteristics:Orphanet epidemiological data:59
mitochondrial dna depletion syndrome, myopathic form
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
variable severity progressive disorder later onset has been reported onset usually by age 2 years HPO:32
mitochondrial dna depletion syndrome 2:
Onset and clinical course variable expressivity phenotypic variability infantile onset progressive Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases Anatomical: Neuronal diseases Liver diseases Eye diseases Bone diseases Muscle diseases Gastrointestinal diseases Nephrological diseases Ear diseases Cardiovascular diseases
ICD10:
34
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OMIM
:
57
Mitochondrial DNA depletion syndrome-2 is an autosomal recessive disorder characterized primarily by childhood onset of muscle weakness associated with depletion of mtDNA in skeletal muscle. There is wide clinical variability; some patients have onset in infancy and show a rapidly progressive course with early death due to respiratory failure, whereas others have later childhood onset of a slowly progressive myopathy (Oskoui et al., 2006).
For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (603041). (609560)
MalaCards based summary : Mitochondrial Dna Depletion Syndrome 2, also known as mtdps2, is related to tk2-related mitochondrial dna depletion syndrome, myopathic form and tk2-related mitochondrial dna maintenance defect, myopathic form. An important gene associated with Mitochondrial Dna Depletion Syndrome 2 is TK2 (Thymidine Kinase 2, Mitochondrial). Affiliated tissues include skeletal muscle, liver and bone, and related phenotypes are seizures and muscular hypotonia UniProtKB/Swiss-Prot : 75 Mitochondrial DNA depletion syndrome 2: A disorder due to mitochondrial dysfunction characterized by childhood onset of muscle weakness associated with depletion of mtDNA in skeletal muscle. There is wide clinical variability; some patients have onset in infancy and show a rapidly progressive course with early death due to respiratory failure, whereas others have later onset of a slowly progressive myopathy. |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:609560Human phenotypes related to Mitochondrial Dna Depletion Syndrome 2:32 (show all 22)
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Interventional clinical trials:
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MalaCards organs/tissues related to Mitochondrial Dna Depletion Syndrome 2:41
Skeletal Muscle,
Liver,
Bone,
Eye
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Articles related to Mitochondrial Dna Depletion Syndrome 2:
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UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Dna Depletion Syndrome 2:75
ClinVar genetic disease variations for Mitochondrial Dna Depletion Syndrome 2:6 (show top 50) (show all 70)
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Search
GEO
for disease gene expression data for Mitochondrial Dna Depletion Syndrome 2.
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