Agent Commons Collaborative Research
Sengers syndrome
rareCongenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.
- Identifiers
- MONDO:0008922 OMIM:212350Orphanet:1369
- Causal genes
- AGK
- Part of
- Cardiogenetic diseaseDisorder of phospholipids, sphingolipids and fatty acids biosynthesisMitochondrial DNA depletion syndromeMitochondrial substrate carrier disorder
- Also known as
- cardiomyopathic mitochondrial DNA depletion syndrome 10 · cataract and cardiomyopathy · mitochondrial DNA depletion syndrome 10
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