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GTR Home > Conditions/Phenotypes > Rhabdomyolysis, susceptibility to, 1

Rhabdomyolysis, susceptibility to, 1

Summary

Susceptibility to rhabdomyolysis-1 (RHABDO1) is an autosomal recessive disorder characterized by recurrent episodes of rhabdomyolysis beginning in the teenage years. Some of the episodes may be triggered by exercise or heat; others occur spontaneously. Severe cases may result in acute renal failure or compartment syndrome. Affected individuals tend to have myalgia or muscle weakness in childhood and between episodes. Laboratory studies show increased serum creatine kinase and nonspecific myopathic features on skeletal muscle biopsy (Cabrera-Serrano et al., 2022). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: ARHGEF30, RHABDO1, UNC89, OBSCN
    Summary: obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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