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hereditary myopathy with lactic acidosis due to ISCU deficiency
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Aconitase deficiency is characterised by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase.
Uniprot Description Autosomal recessive metabolic disease characterized by lifelong severe exercise intolerance, in which minor exertion causes fatigue of active muscles, shortness of breath, and cardiac palpitations in association with lactic acidosis. The biochemical phenotype is characterized by a deficiency in mitochondrial iron-sulfur proteins and impaired muscle oxidative metabolism.
Mondo Term and Equivalent IDs
MONDO:0009706: hereditary myopathy with lactic acidosis due to ISCU deficiency
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
MESH:C564972
OMIM:255125
Orphanet:43115
SCTID:699268002
UMLS:C1850718
MONDO:0009706
High level summary of knowledge for a disease, including descriptions and datasource references.