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hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description 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.
Uniprot Description A mitochondrial disease resulting in early rapidly progressive hepatoencephalopathy.
Mondo Term and Equivalent IDs
MONDO:0012191: hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0111474
MESH:C563797
NCIT:C125663
OMIM:609060
Orphanet:137681
SCTID:764962002
UMLS:C1836797
MONDO:0012191
High level summary of knowledge for a disease, including descriptions and datasource references.