Chronic atrial and intestinal dysrhythmia syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: CAID syndrome
Chronic atrial dysrhythmia-intestinal motility disorder
Number of Symptoms 18
OrphanetNr: 435988
OMIM Id: 616201
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 0.1 of 100 000
Inheritance: Autosomal recessive
25352100 [IBIS]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic cardiac rhythm disease
 -Rare cardiac disease
 -Rare genetic disease

Comment:

Chronic atrial and intestinal dysrhythmia syndrome (CAID syndrome) belongs to the group of cohesinopathies. It is caused by recessive mutations in the SGOL1 gene which encodes a component of the cohesin complex and affects heart and gut rhythm. (PMID:25352100)

Symptom Information: Sort by abundance 

1
 (HPO:0001531) Failure to thrive in infancy 25282101 IBIS 26 / 7739
2
 (MedDRA:10067286) Left atrial dilatation Frequent [IBIS] 47% (n=17) 25282101 IBIS 10 / 7739
3
 (HPO:0001659) Aortic regurgitation Rare [IBIS] 6% (n=17) 25282101 IBIS 36 / 7739
4
 (HPO:0001641) Abnormality of the pulmonary valve Rare [IBIS] 6% (n=17) 25282101 IBIS 27 / 7739
5
 (HPO:0001633) Abnormality of the mitral valve Occasional [IBIS] 12% (n=17) 25282101 IBIS 69 / 7739
6
 (HPO:0001646) Abnormality of the aortic valve Occasional [IBIS] 24% (n=17) 25282101 IBIS 55 / 7739
7
 (HPO:0001824) Weight loss Frequent [IBIS] 25282101 IBIS 42 / 7739
8
 (HPO:0001654) Abnormality of the heart valves Frequent [IBIS] 41% (n=17) 25282101 IBIS 49 / 7739
9
 (HPO:0001692) Primary atrial arrhythmia Frequent [IBIS] 35% (n=17) 25282101 IBIS 16 / 7739
10
 (HPO:0001688) Sinus bradycardia Very frequent [IBIS] 100% (n=17) 25282101 IBIS 18 / 7739
11
 (HPO:0004389) Intestinal pseudo-obstruction Very frequent [IBIS] 100% (n=17) 25282101 IBIS 7 / 7739
12
 (HPO:0004749) Atrial flutter rare [HPO:skoehler] Occasional [IBIS] 29% (n=17) 25282101 IBIS 20 / 7739
13
 (HPO:0011704) Sick sinus syndrome Very frequent [IBIS] 100% (n=17) 25282101 IBIS 6 / 7739
14
 (HPO:0001653) Mitral regurgitation rare [HPO:skoehler] Occasional [IBIS] 12% (n=17) 25282101 IBIS 64 / 7739
15
 (HPO:0005110) Atrial fibrillation rare [HPO:skoehler] Rare [IBIS] 6% (n=17) 25282101 IBIS 71 / 7739
16
 (HPO:0001662) Bradycardia Very frequent [IBIS] 100% (n=17) 25282101 IBIS 41 / 7739
17
 (HPO:0001647) Bicuspid aortic valve rare [HPO:skoehler] Rare [IBIS] 6% (n=17) 25282101 IBIS 34 / 7739
18
 (HPO:0001642) Pulmonic stenosis rare [HPO:skoehler] Rare [IBIS] 6% (n=17) 25282101 IBIS 89 / 7739

Associated genes:

SGOL1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
SGO1 rs199815268 pathogenic RCV000150047.2

Additional Information: