Combined Oxidative Phosphorylation Deficiency 1

Alternative Names

  • COXPD1
  • Hepatoencephalopathy, Early fatal Progressive
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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Metabolic disorders

OMIM Number

609060

Mode of Inheritance

Autosomal recessive

Gene Map Locus

3q25.32

Description

Combined Oxidative Phosphorylation Deficiency 1 is a rare genetic disorder characterized by deficits in more than one of the mitochondrial protein complexes involved in oxidative phosporylation. The condition is exemplified primarily by neurological and hepatic deficits. 

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
609060.1.1LebanonFemaleYesYes Metabolic acidosis; Fatal liver failure...NM_024996.5:c.521A>GHomozygousAutosomal, RecessiveCoenen et al, 2004
609060.1.2LebanonMaleYesYes Metabolic acidosis; Fatal liver failure...NM_024996.5:c.521A>GHomozygousAutosomal, RecessiveCoenen et al, 2004 Brother of 609060.1....
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