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Term:combined oxidative phosphorylation deficiency 39
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Accession:DOID:0111475 term browser browse the term
Definition:Combined oxidative phosphorylation deficiency-39 (COXPD39) is an autosomal recessive multisystem disorder resulting from a defect in mitochondrial energy metabolism. Affected individuals show global developmental delay, sometimes with regression after normal early development, axial hypotonia with limb spasticity or abnormal involuntary movements, and impaired intellectual development with poor speech. More variable features may include hypotonia, seizures, and features of Leigh syndrome on brain imaging. There are variable deficiencies of the mitochondrial respiratory chain enzyme complexes in patient tissues. COXPD39 is caused by homozygous or compound heterozygous mutation in the GFM2 gene on chromosome 5q13. (OMIM)
Synonyms:exact_synonym: COXPD39
 primary_id: OMIM:618397
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combined oxidative phosphorylation deficiency 39 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gfm2 GTP dependent ribosome recycling factor mitochondrial 2 JBrowse link 2 27,949,195 27,984,045 RGD:8554872

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Term Annotations click to browse term
  disease 15489
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        mitochondrial metabolism disease 310
          combined oxidative phosphorylation deficiency 44
            combined oxidative phosphorylation deficiency 39 1
Path 2
Term Annotations click to browse term
  disease 0
    Developmental Diseases 8822
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7612
        genetic disease 7095
          monogenic disease 4789
            autosomal genetic disease 3769
              autosomal recessive disease 2118
                combined oxidative phosphorylation deficiency 39 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.