chronic atrial and intestinal dysrhythmia
Findings
No curated finding names chronic atrial and intestinal dysrhythmia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction. It has material basis in the mutated SGOL1 protein. Distinctive clinical features include atrial dysrhythmias, sick sinus syndrome (SSS) and valve anomalies and chronic intestinal pseudo-obstruction (CIPO).
Definition from the Mondo Disease Ontology (MONDO:0014528), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
12 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- BradycardiaHPOHP:0001662
- 17 of 17 reported patients
- Decreased body weightHPOHP:0004325
- 17 of 17 reported patients
- Failure to thriveHPOHP:0001508
- 17 of 17 reported patients
- Intestinal pseudo-obstructionHPOHP:0004389
- 17 of 17 reported patients
- Sick sinus syndromeHPOHP:0011704
- 17 of 17 reported patients
- Left atrial enlargementHPOHP:0031295
- 8 of 17 reported patients
- Atrial flutterHPO
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SGO1HGNC:25088
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal dominant · 2022
Where it sits
Other names
2 names
Resolves to: chronic atrial and intestinal dysrhythmia
- Also called
- caid syndromechronic atrial dysrhythmia-intestinal motility disorder