Orphanet: Congenital cataract hypertrophic cardiomyopathy mitochondrial myopathy syndrome

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Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome

Disease definition

Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.


Classification level: Disorder
  • Synonym(s):
    • Sengers syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 212350  615418
  • UMLS: C1859317
  • MeSH: C538280
  • GARD: 1142
  • MedDRA: -

Detailed information


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