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:
Ontology: Human Disease   (DOID:0080132)
OTHER Sengers syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
AGK Sengers syndrome 212350
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None