Alpers-Huttenlocher syndrome

Term ID

DOID:0080122

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. (4)

References

• GARD:5783
• ICD10CM:G31.81
• MESH:D002549
• MIM:203700
• NCI:C35257
• ORDO:726
• SNOMEDCT_US_2023_03_01:20415001
• UMLS_CUI:C0205710

Ontology

Human Disease   ( DOID:0080122 )