ONTOLOGY REPORT - ANNOTATIONS


Term:Combined Oxidative Phosphorylation Deficiency 1
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Accession:DOID:9000753 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
 primary_id: MESH:C563797
 alt_id: OMIM:609060;   RDO:0012964
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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 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 14919
    syndrome 4713
      hepatic encephalopathy 29
        Combined Oxidative Phosphorylation Deficiency 1 4
Path 2
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  disease 14919
    disease of anatomical entity 14083
      gastrointestinal system disease 4264
        hepatobiliary disease 2365
          liver disease 2276
            Hepatic Insufficiency 108
              Liver Failure 97
                hepatic encephalopathy 29
                  Combined Oxidative Phosphorylation Deficiency 1 4
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