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GTR Home > Conditions/Phenotypes > Chronic atrial and intestinal dysrhythmia

Chronic atrial and intestinal dysrhythmia

Summary

Syndrome with characteristics of sick sinus syndrome and intestinal pseudo-obstruction. The heart and digestive issues develop at the same time, usually by age 20. The syndrome is caused by mutations in the SGO1 gene. This gene provides instructions for making part of a protein complex cohesin. This protein complex helps control the placement of chromosomes during cell division. Research suggests that SGO1 gene mutations may result in a cohesin complex that is less able to hold sister chromatids together, resulting in decreased chromosomal stability during cell division. This instability is thought to cause senescence of cells in the intestinal muscle and in the sinoatrial node, resulting in problems maintaining proper rhythmic movements of the heart and intestines. [from SNOMEDCT_US]

Available tests

1 test is in the database for this condition.

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Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CAID, NY-BR-85, SGO, SGOL1, SGO1
    Summary: shugoshin 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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