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Sengers syndrome

Disease Summary
Associated Targets (3)
Tbio

3


GARD Rare
Mondo Description Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.
Uniprot Description 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.
Mondo Term and Equivalent IDs
MONDO:0008922:  Sengers syndrome
GARD:0001142: 
MESH:C538280: 
Orphanet:1369: 
SCTID:717812000: 
UMLS:C1859317: