Mondo Description Alpers Huttenlocher syndrome (AHS) is a cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure.
Uniprot Description An autosomal recessive hepatocerebral syndrome due to mitochondrial dysfunction. The typical course of the disease includes severe developmental delay, intractable seizures, liver failure, and death in childhood. Refractory seizures, cortical blindness, progressive liver dysfunction, and acute liver failure after exposure to valproic acid are considered diagnostic features. The neuropathological hallmarks are neuronal loss, spongiform degeneration, and astrocytosis of the visual cortex. Liver biopsy results show steatosis, often progressing to cirrhosis.
Disease Ontology Description A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions.
Mondo Term and Equivalent IDs
MONDO:0008758: mitochondrial DNA depletion syndrome 4a
Download Data for mitochondrial DNA depletion syndrome 4a
data still loading...
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.
This disease has been annotated by GARD as a rare disease.
Description from Mondo Disease Ontology.
Description from UniProt.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0080122
DOID:1442
GARD:0005783
NCIT:C35257
OMIM:203700
Orphanet:726
SCTID:20415001
UMLS:C0205710
MONDO:0008758
High level summary of knowledge for a disease, including descriptions and datasource references.