KEGG   DISEASE: Chronic atrial and intestinal dysrhythmia
Entry
H02122                      Disease                                

Name
Chronic atrial and intestinal dysrhythmia;
CAID syndrome
Description
Chronic atrial and intestinal dysrhythmia, termed CAID syndrome, is a cohesinopathy syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction. It has been reported that a single homozygous mutation in SGOL1 predisposes to this generalized co-occurring cardiac and intestinal rhythm phenotype.
Category
Cardiovascular disease; Gastrointestinal disease
Brite
Human diseases [BR:br08402]
 Cardiovascular diseases
  Cardiac diseases
   H02122  Chronic atrial and intestinal dysrhythmia
 Digestive system diseases
  Gastrointestinal diseases
   H02122  Chronic atrial and intestinal dysrhythmia
Human diseases in ICD-11 classification [BR:br08403]
 11 Diseases of the circulatory system
  Cardiac arrhythmia
   BC65  Cardiac arrhythmia associated with genetic disorder
    H02122  Chronic atrial and intestinal dysrhythmia
Pathway
hsa04114 Oocyte meiosis   
Gene
SGOL1 [HSA:151648] [KO:K11580]
Comment
See also H00729 and H01276.
Other DBs
ICD-11: BC65.Y
ICD-10: I49.9 K59.8
OMIM: 616201
Reference
  Authors
Krantz ID
  Title
Cohesin embraces new phenotypes.
  Journal
Nat Genet 46:1157-8 (2014)
DOI:10.1038/ng.3123
Reference
  Authors
Chetaille P, Preuss C, Burkhard S, Cote JM, Houde C, Castilloux J, Piche J, Gosset N, Leclerc S, Wunnemann F, Thibeault M, Gagnon C, Galli A, Tuck E, Hickson GR, El Amine N, Boufaied I, Lemyre E, de Santa Barbara P, Faure S, Jonzon A, Cameron M, Dietz HC, Gallo-McFarlane E, Benson DW, Moreau C, Labuda D, Zhan SH, Shen Y, Jomphe M, Jones SJ, Bakkers J, Andelfinger G
  Title
Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm.
  Journal
Nat Genet 46:1245-9 (2014)
DOI:10.1038/ng.3113
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