Sengers syndrome

Term ID

DOID:0080132

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
• MIM:212350
• ORDO:1369

Ontology

Human Disease   ( DOID:0080132 )