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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 on chromosome 15q26.
https://en.wikipedia.org/wiki/Mitochondrial_DNA_depletion_syndrome, https://ghr.nlm.nih.gov/condition/alpers-huttenlocher-syndrome, https://www.ncbi.nlm.nih.gov/pubmed/30103161, https://www.ncbi.nlm.nih.gov/pubmed/30451971
Xrefs

GARD:5783

ICD10CM:G31.81

MESH:D002549

MIM:203700

NCI:C35257

ORDO:726

SNOMEDCT_US_2023_03_01:20415001

UMLS_CUI:C0205710

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]

progressive sclerosing poliodystrophy [EXACT]

Parent Relationships

is_a mitochondrial DNA depletion syndrome

is_a autosomal recessive disease

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