ZFIN Human Disease: Sengers syndrome

OBO ID: DOID:0080132

Term Name:	Sengers syndrome		Search Ontology:
Synonyms:	mitochondrial DNA depletion syndrome 10 mitochondrial DNA depletion syndrome 10 (cardiomyopathic type)
Definition:	A mitochondrial DNA depletion syndrome that is characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis, but normal mental development, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the acylglycerol kinase gene on chromosome 7q34. (4)
References:	GARD:1142 MESH:C538280 OMIM:212350 ORDO:1369
Ontology:	Human Disease ( DOID:0080132 )

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
AGK	agk	Sengers syndrome	212350

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None