MTDPS17
MCID: MTC200
MIFTS: 17
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Mitochondrial Dna Depletion Syndrome 17 (MTDPS17)
Categories:
Bone diseases, Cardiovascular diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Mitochondrial Dna Depletion Syndrome 17:Characteristics:OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
progressive disease no response to levodopa and carbidopa treatment onset in infancy (8 months) death in childhood (age 7) one boy of italian parentage has been reported (last curated september 2019) Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases Eye diseases Liver diseases Gastrointestinal diseases Bone diseases Nephrological diseases Ear diseases Cardiovascular diseases |
UniProtKB/Swiss-Prot :
73
Mitochondrial DNA depletion syndrome 17: An autosomal recessive mitochondrial disorder characterized by childhood onset of rapidly progressive encephalopathy, stroke-like episodes, lactic acidosis, hypocitrullinemia, multiple defects of oxidative phosphorylation, mitochondrial complex I and IV deficiency, and reduced mtDNA copy number.
MalaCards based summary : Mitochondrial Dna Depletion Syndrome 17, is also known as mtdps17. An important gene associated with Mitochondrial Dna Depletion Syndrome 17 is MRM2 (Mitochondrial RRNA Methyltransferase 2). Affiliated tissues include liver. |
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:618567 |
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MalaCards organs/tissues related to Mitochondrial Dna Depletion Syndrome 17:40
Liver
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Articles related to Mitochondrial Dna Depletion Syndrome 17:
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ClinVar genetic disease variations for Mitochondrial Dna Depletion Syndrome 17:6
UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Dna Depletion Syndrome 17:73
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Search
GEO
for disease gene expression data for Mitochondrial Dna Depletion Syndrome 17.
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