ZFIN Human Disease: Alpers-Huttenlocher syndrome

OBO ID: DOID:0080122

Term Name:	Alpers-Huttenlocher syndrome		Search Ontology:
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. (5)
References:	GARD:5783 ICD10CM:G31.81 MESH:D002549 NCI:C35257 OMIM:203700 ORDO:726 SNOMEDCT_US_2023_03_01:20415001 UMLS_CUI:C0205710
Ontology:	Human Disease ( DOID:0080122 )

Relationships

is a type of:	autosomal recessive disease mitochondrial DNA depletion syndrome autosomal recessive disease mitochondrial DNA depletion syndrome Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
POLG	polg	Mitochondrial DNA depletion syndrome 4A (Alpers type)	203700

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None