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Metadata
ID DOID:0080132
Name Sengers syndrome
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.
https://en.wikipedia.org/wiki/Sengers_syndrome, https://www.ncbi.nlm.nih.gov/pubmed/28712724, https://www.ncbi.nlm.nih.gov/pubmed/29682452, https://www.omim.org/entry/212350
Xrefs

GARD:1142

MESH:C538280

OMIM:212350

ORDO:1369

Synonyms

mitochondrial DNA depletion syndrome 10 [EXACT]

mitochondrial DNA depletion syndrome 10 (cardiomyopathic type) [EXACT]

Parent Relationships

is_a mitochondrial DNA depletion syndrome

is_a autosomal recessive disease

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