mitochondrial DNA depletion syndrome 4a
Go to external page http://purl.obolibrary.org/obo/DOID_0080122
Term information
- MESH:D002549
- NCI:C35257
- GARD:5783
- OMIM:203700
- ORDO:726
- SNOMEDCT_US_2018_03_01:20415001
- MTHICD9_2006:330.8
- ICD10CM:G31.81
- UMLS_CUI:C0205710
DO_rare_slim, NCIthesaurus
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.
Alpers' disease or gray-matter degeneration
Alper's syndrome
Alpers syndrome
Alpers progressive infantile poliodystrophy
progressive sclerosing poliodystrophy
Alpers disease
Alpers-Huttenlocher syndrome
Intractable seizures with status epilepticus and epilepsia partialis continua occur, with developmental regression and liver dysfunction. Caused by mutations in POLG.