Details of Disease | DrugMAP

General Information of Disease (ID: DISJR36T)

Disease Name	Chronic atrial and intestinal dysrhythmia
Synonyms	Cohesinopathy affecting heart and gut rhythm; caid; chronic atrial intestinal dysrhythmia syndrome; chronic atrial and intestinal dysrhythmia syndrome; chronic atrial and intestinal dysrhythmia; caid syndrome; chronic atrial dysrhythmia-intestinal motility disorder
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).
Disease Hierarchy	DIS6SVEE: Syndromic disease DISYKSRF: Genetic disease DISGPMUQ: Intestinal disorder DISJR36T: Chronic atrial and intestinal dysrhythmia
Disease Identifiers	MONDO ID MONDO_0014528 UMLS CUI C4015474 OMIM ID 616201 MedGen ID 863911 Orphanet ID 435988 SNOMED CT ID 720507006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SGO1	TTBPKGD	Limited	Biomarker	[1]
SGO1	TTBPKGD	Supportive	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SGO1	OTIP6IRN	Supportive	Autosomal recessive	[1]
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References

1	Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm. Nat Genet. 2014 Nov;46(11):1245-9. doi: 10.1038/ng.3113. Epub 2014 Oct 5.