Details of Disease

General Information of Disease (ID: DISKWI67)

Disease Name Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Synonyms
combined oxidative phosphorylation deficiency 1; Hepatoencephalopathy, early fatal progressive; COXPD1; Hepatoencephalopathy due to COXPD1; GFM1 combined oxidative phosphorylation deficiency; hepatoencephalopathy due to combined oxidative phosphorylation defect type 1; combined oxidative phosphorylation deficiency type 1; combined oxidative phosphorylation deficiency caused by mutation in GFM1
Definition
Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 is a rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement.
Disease Hierarchy
DISG5MW9: Combined oxidative phosphorylation deficiency
DISKWI67: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Disease Identifiers
MONDO ID
MONDO_0012191
MESH ID
C563797
UMLS CUI
C1836797
OMIM ID
609060
MedGen ID
322999
Orphanet ID
137681

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GFM1 OTUN4V3N Definitive Autosomal recessive [1]
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References

1 Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu. Am J Hum Genet. 2007 Jan;80(1):44-58. doi: 10.1086/510559. Epub 2006 Nov 15.