Preferred Label : Sengers syndrome;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Cardiomyopathy and cataract; MTDPS10; Mitochondrial dna depletion syndrome 10 (cardiomyopathic type);
Description : Sengers syndrome is an autosomal recessive mitochondrial disorder characterized by
congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance,
and lactic acidosis. Mental development is normal, but affected individuals may die
early from cardiomyopathy (summary by Mayr et al., 2012). Skeletal muscle biopsies
of 2 affected individuals showed severe mtDNA depletion (Calvo et al., 2012).;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the acylglycerol kinase gene (AGK, 610345.0001);
Laboratory abnormalities : Increased serum lactate, particularly after exercise; Intermittent 3-methylglutaconic aciduria;
Prefixed ID : #212350;
Origin ID : 212350;
UMLS CUI : C1859317;
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)