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ONTOLOGY REPORT - ANNOTATIONS


Term:combined oxidative phosphorylation deficiency 1
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Accession:DOID:0111474 term browser browse the term
Definition:Combined oxidative phosphorylation deficiency is an autosomal recessive multisystem disorder with variable manifestations resulting from a defect in the mitochondrial oxidative phosphorylation (OXPHOS) system. Onset occurs at or soon after birth, and features can include growth retardation, microcephaly, hypertonicity, axial hypotonia, encephalopathy, cardiomyopathy, and liver dysfunction. Death usually occurs in the first weeks or years of life. Combined oxidative phosphorylation deficiency-1 (COXPD1) leading to early fatal progressive hepatoencephalopathy is caused by homozygous or compound heterozygous mutation in the gene encoding the mitochondrial elongation factor G1 (GFM1, EFG1) on chromosome 3q25. (OMIM)
Synonyms:exact_synonym: COXPD1;   early fatal progressive hepatoencephalopathy;   hepatoencephalopathy due to COXPD1;   hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
 primary_id: MESH:C563797
 alt_id: OMIM:609060
 xref: ORDO:137681
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combined oxidative phosphorylation deficiency 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gfm1 G elongation factor, mitochondrial 1 JBrowse link 2 164,601,575 164,646,478 RGD:7240710
RGD:8554872
G Mrpl44 mitochondrial ribosomal protein L44 JBrowse link 9 85,542,763 85,547,814 RGD:8554872
G Mrps22 mitochondrial ribosomal protein S22 JBrowse link 8 106,604,421 106,617,591 RGD:8554872
G Nars2 asparaginyl-tRNA synthetase 2, mitochondrial JBrowse link 1 161,922,132 162,035,817 RGD:8554872
G Vars2 valyl-tRNA synthetase 2, mitochondrial JBrowse link 20 3,588,462 3,599,514 RGD:8554872

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Path 1
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  disease 15602
    syndrome 5231
      hepatic encephalopathy 34
        combined oxidative phosphorylation deficiency 1 5
Path 2
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  disease 15602
    disease of anatomical entity 14933
      gastrointestinal system disease 4494
        hepatobiliary disease 2426
          liver disease 2333
            Hepatic Insufficiency 125
              Liver Failure 115
                hepatic encephalopathy 34
                  combined oxidative phosphorylation deficiency 1 5
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.