| Metadata | |
|---|---|
| ID | DOID:0080122 |
| Name | Alpers-Huttenlocher syndrome |
| 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 (POLG) on chromosome 15q26. https://www.ncbi.nlm.nih.gov/pubmed/30451971, https://ghr.nlm.nih.gov/condition/alpers-huttenlocher-syndrome, https://www.ncbi.nlm.nih.gov/pubmed/30103161, https://en.wikipedia.org/wiki/Mitochondrial_DNA_depletion_syndrome |
| Xrefs |
SNOMEDCT_US_2023_03_01:20415001 |
| SKOS |
exactMatch MESH:D002549 |
| Alternateids |
DOID:1442 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
Alper's syndrome [EXACT] Alpers disease [EXACT] Alpers progressive infantile poliodystrophy [EXACT] Alpers syndrome [EXACT] Alpers' disease or gray-matter degeneration [EXACT] Diffuse Cerebral Sclerosis of Schilder [EXACT] mitochondrial DNA depletion syndrome 4a [EXACT] Polg disease [EXACT] progressive sclerosing poliodystrophy [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |