Chronic Atrial And Intestinal Dysrhythmia Syndrome

Description

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.

Clinical Features

Top most frequent phenotypes and symptoms related to Chronic Atrial And Intestinal Dysrhythmia Syndrome

  • Failure to thrive
  • Weight loss
  • Pulmonic stenosis
  • Atrial fibrillation
  • Mitral regurgitation
  • Bradycardia
  • Aortic regurgitation
  • Bicuspid aortic valve
  • Failure to thrive in infancy
  • Abnormal heart valve morphology

And another 8 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Chronic Atrial And Intestinal Dysrhythmia Syndrome Is also known as chronic atrial dysrhythmia-intestinal motility disorder, caid syndrome.

Researches and researchers

Doctors, researchs, and experts related to Chronic Atrial And Intestinal Dysrhythmia Syndrome extracted from public data.

Chronic Atrial And Intestinal Dysrhythmia Syndrome Experts map



Current Researchs and researchers

  • MONTRÉAL — Dr Gregor ANDELFINGER

    Coordinator of research network

    • Institution/s:
      — CHU Sainte-Justine
    • Research area/topic::

      CoHEART : Improving care for Cohesinopathies, from heart phenotypes to novel therapies


  • MARSEILLE — Dr Michel PUCEAT

    Investigator of research project

    • Institution/s:
      — Faculté de Médecine de la Timone
    • Research area/topic::

      CoHEART : Improving care for Cohesinopathies, from heart phenotypes to novel therapies - FR



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Chronic Atrial And Intestinal Dysrhythmia Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
SGOL1.

By Fulgent Genetics Fulgent Genetics (United States).

SGO1
Specificity
100 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. (United States).

BCL6, RHEB, RIPK1, RIPK2, RIPK3, RIT1, BCL7A, BCL9, BCR, ROBO2, ROCK1, ROCK2, ROR1, ROR2, ROS1, RPA1, BDNF, RPL5, RPN1, RPS6KB1 , (...)

View the complete list with 1627 more genes
Specificity
1 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Genetic Syndrome Finder

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