KEGG DISEASE: Chronic atrial and intestinal dysrhythmia

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

Brite

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-based classification of diseases [BR:br08402]
Cellular process
  nt06512  Chromosome cohesion and segregation
   H02122  Chronic atrial and intestinal dysrhythmia

Pathway

hsa04110 Cell cycle

Network

nt06512 Chromosome cohesion and segregation

Gene

SGOL1 [HSA:151648] [KO:K11580]

Comment

See also H00729 and H01276.

Other DBs

ICD-11:

ICD-10:

OMIM:

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

LinkDB

» Japanese version

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