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ONTOLOGY REPORT - ANNOTATIONS


Term:mitochondrial DNA depletion syndrome 1
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Accession:DOID:0080119 term browser browse the term
Definition:A mitochondrial DNA depletion syndrome that is characterized by onset between the second and fifth decades of life of ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility, cachexia, diffuse leukoencephalopathy, peripheral neuropathy, and mitochondrial dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear-encoded thymidine phosphorylase gene on chromosome 22q13. (DO)
Synonyms:exact_synonym: MNGIE, TYMP-RELATED;   MTDPS1;   MYONEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME;   Mitochondrial DNA Depletion Syndrome 1 (MNGIE Type);   POLIP SYNDROME;   mitochondrial neurogastrointestinal encephalopathy;   mitochondrial neurogastrointestinal encephalopathy syndrome, TYMP-related;   polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction
 primary_id: OMIM:603041
 alt_id: RDO:0009878
 xref: GARD:9920;   NCI:C11967;   ORDO:298
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mitochondrial DNA depletion syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ncaph2 non-SMC condensin II complex, subunit H2 JBrowse link 7 130,326,597 130,343,655 RGD:8554872
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8554872
RGD:11554173
G Tymp thymidine phosphorylase JBrowse link 7 130,342,481 130,347,845 RGD:7240710
RGD:8554872

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  disease 15599
    Nutritional and Metabolic Diseases 4365
      disease of metabolism 4365
        mitochondrial metabolism disease 307
          mitochondrial DNA depletion syndrome 24
            mitochondrial DNA depletion syndrome 1 3
Path 2
Term Annotations click to browse term
  disease 15599
    Developmental Diseases 8726
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7507
        genetic disease 6997
          monogenic disease 4558
            autosomal genetic disease 3509
              autosomal recessive disease 1978
                mitochondrial DNA depletion syndrome 1 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.