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Alpers-Huttenlocher syndrome
Summary
- Synonym
-
- Alper's syndrome
- Alpers disease
- Alpers progressive infantile poliodystrophy
- Alpers syndrome
- Alpers' disease or gray-matter degeneration
- Diffuse Cerebral Sclerosis of Schilder
- mitochondrial DNA depletion syndrome 4a
- progressive sclerosing poliodystrophy
- 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.
- Super Class
- autosomal recessive disease mitochondrial DNA depletion syndrome
External Links
- Disease Ontology
- DOID:0080122
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P04156 | Major prion protein |
