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ONTOLOGY REPORT - ANNOTATIONS


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 G elongation factor, mitochondrial 2 JBrowse link 2 27,949,195 27,984,045 RGD:8554872
RGD:7240710

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Term Annotations click to browse term
  disease 15603
    Nutritional and Metabolic Diseases 4390
      disease of metabolism 4390
        mitochondrial metabolism disease 308
          combined oxidative phosphorylation deficiency 44
            combined oxidative phosphorylation deficiency 39 1
Path 2
Term Annotations click to browse term
  disease 15603
    Developmental Diseases 8772
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7555
        genetic disease 7051
          monogenic disease 4686
            autosomal genetic disease 3645
              autosomal recessive disease 2078
                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.