OBO ID: DOID:0080122
Term Name: Alpers-Huttenlocher syndrome Search Ontology:
Synonyms:
  • Alpers disease
  • Alpers progressive infantile poliodystrophy
  • Alpers syndrome
  • Diffuse Cerebral Sclerosis of Schilder
  • mitochondrial DNA depletion syndrome 4a
Definition: A mitochondrial DNA depletion syndrome that is characterized by a clinical triad of psychomotor retardation, intractable epilepsy, and liver failure in infants and young children, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear gene encoding mitochondrial DNA polymerase gamma on chromosome 15q26. (5)
References:
  • GARD:5783
  • ICD10CM:G31.81
  • MESH:D002549
  • NCI:C35257
  • OMIM:203700
  • ORDO:726
  • SNOMEDCT_US_2022_03_01:20415001
  • UMLS_CUI:C0205710
Ontology: Human Disease   (DOID:0080122)
OTHER Alpers-Huttenlocher syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
POLG Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None