SGO1 gene related symptoms and diseases

All the information presented here about the SGO1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to SGO1 gene

Symptoms // Phenotype % Cases
Failure to thrive Very Common - Between 80% and 100% cases
Sinus bradycardia Very Common - Between 80% and 100% cases
Sick sinus syndrome Very Common - Between 80% and 100% cases
Atrial arrhythmia Very Common - Between 80% and 100% cases
Intestinal pseudo-obstruction Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with SGO1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Abnormal aortic valve morphology
  • Abnormal mitral valve morphology
  • Atrial flutter
  • Abnormal heart valve morphology
  • Weight loss
  • Failure to thrive in infancy
  • Bicuspid aortic valve
  • Aortic regurgitation

And 5 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to SGO1 gene

Here you will find a list of rare diseases related to the SGO1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CHRONIC ATRIAL AND INTESTINAL DYSRHYTHMIA SYNDROME

Alternate names

CHRONIC ATRIAL AND INTESTINAL DYSRHYTHMIA SYNDROME Is also known as chronic atrial dysrhythmia-intestinal motility disorder, caid 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.

Most common symptoms of CHRONIC ATRIAL AND INTESTINAL DYSRHYTHMIA SYNDROME

  • Failure to thrive
  • Weight loss
  • Pulmonic stenosis
  • Atrial fibrillation
  • Mitral regurgitation


More info about CHRONIC ATRIAL AND INTESTINAL DYSRHYTHMIA SYNDROME

SOURCES: ORPHANET OMIM


Potential gene panels for SGO1 gene

SGOL1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SGO1 gene.

More info about this panel
United States.

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel
United States.

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