CAID
MCID: CHR515
MIFTS: 34

Chronic Atrial and Intestinal Dysrhythmia (CAID)

Categories: Gastrointestinal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Chronic Atrial and Intestinal Dysrhythmia

MalaCards integrated aliases for Chronic Atrial and Intestinal Dysrhythmia:

Name: Chronic Atrial and Intestinal Dysrhythmia 58 12 54 26 76 38 6 15 74
Caid Syndrome 12 54 60
Caid 58 26 76
Cohesinopathy Affecting Heart and Gut Rhythm 54 26
Chronic Atrial Dysrhythmia-Intestinal Motility Disorder 60
Chronic Atrial and Intestinal Dysrhythmia Syndrome 60
Chronic Atrial Intestinal Dysrhythmia Syndrome 54
Dysrhythmia, Atrial and Intestinal, Chronic 41

Characteristics:

Orphanet epidemiological data:

60
chronic atrial and intestinal dysrhythmia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset of symptoms in first or second decade of life
almost all patients require total parenteral nutrition
many patients require cardiac pacemakers


HPO:

33
chronic atrial and intestinal dysrhythmia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060339
OMIM 58 616201
KEGG 38 H02122
ICD10 via Orphanet 35 K59.8
Orphanet 60 ORPHA435988
UMLS 74 C4015474

Summaries for Chronic Atrial and Intestinal Dysrhythmia

Genetics Home Reference : 26 Chronic atrial and intestinal dysrhythmia (CAID) is a disorder affecting the heart and the digestive system. CAID disrupts the normal rhythm of the heartbeat; affected individuals have a heart rhythm abnormality called sick sinus syndrome. The disorder also impairs the rhythmic muscle contractions that propel food through the intestines (peristalsis), causing a digestive condition called intestinal pseudo-obstruction. The heart and digestive issues develop at the same time, usually by age 20.

MalaCards based summary : Chronic Atrial and Intestinal Dysrhythmia, also known as caid syndrome, is related to dementia and alacrima, achalasia, and mental retardation syndrome. An important gene associated with Chronic Atrial and Intestinal Dysrhythmia is SGO1 (Shugoshin 1), and among its related pathways/superpathways are Oocyte meiosis and Mitotic Metaphase and Anaphase. Affiliated tissues include heart, smooth muscle and skin, and related phenotypes are bicuspid aortic valve and mitral regurgitation

Disease Ontology : 12 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).

UniProtKB/Swiss-Prot : 76 Chronic atrial and intestinal dysrhythmia: A disease characterized by dysregulation of the cardiac sinus node resulting in sick sinus syndrome, in association with chronic intestinal pseudo-obstruction, a disorder of gastrointestinal motility in which intestinal obstruction occurs in the absence of a mechanical obstacle.

Description from OMIM: 616201

Related Diseases for Chronic Atrial and Intestinal Dysrhythmia

Diseases related to Chronic Atrial and Intestinal Dysrhythmia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 dementia 10.4
2 alacrima, achalasia, and mental retardation syndrome 10.3
3 alzheimer disease 10.1

Symptoms & Phenotypes for Chronic Atrial and Intestinal Dysrhythmia

Human phenotypes related to Chronic Atrial and Intestinal Dysrhythmia:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 bicuspid aortic valve 33 occasional (7.5%) HP:0001647
2 mitral regurgitation 33 occasional (7.5%) HP:0001653
3 pulmonic stenosis 33 occasional (7.5%) HP:0001642
4 atrial fibrillation 33 occasional (7.5%) HP:0005110
5 atrial flutter 33 occasional (7.5%) HP:0004749
6 failure to thrive 33 HP:0001508
7 sick sinus syndrome 33 HP:0011704
8 bradycardia 33 HP:0001662

Symptoms via clinical synopsis from OMIM:

58
Growth Other:
failure to thrive

Growth Weight:
low weight

Skin Nails Hair Skin:
hyperpigmented skin lesions (in some patients)

Cardiovascular Heart:
sick sinus syndrome
bradycardia
bicuspid aortic valve (in some patients)
pulmonary valve stenosis (in some patients)
atrial flutter (in some patients)
more
Abdomen Gastrointestinal:
intestinal pseudoobstruction, neurogenic and myogenic
hypoplastic ganglia in enteric nervous system
mislocalization of ganglia in circular and longitudinal cell layers
mislocalization of cajal cells in circular and longitudinal cell layers
abundant t cells in smooth muscle layers
more
Laboratory Abnormalities:
c-band karyotype shows 'railroad track' appearance

Clinical features from OMIM:

616201

GenomeRNAi Phenotypes related to Chronic Atrial and Intestinal Dysrhythmia according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Effect on mitosis GR00257-A-2 8.62 BUB1 SGO1

Drugs & Therapeutics for Chronic Atrial and Intestinal Dysrhythmia

Search Clinical Trials , NIH Clinical Center for Chronic Atrial and Intestinal Dysrhythmia

Genetic Tests for Chronic Atrial and Intestinal Dysrhythmia

Anatomical Context for Chronic Atrial and Intestinal Dysrhythmia

MalaCards organs/tissues related to Chronic Atrial and Intestinal Dysrhythmia:

42
Heart, Smooth Muscle, Skin, T Cells

Publications for Chronic Atrial and Intestinal Dysrhythmia

Articles related to Chronic Atrial and Intestinal Dysrhythmia:

# Title Authors Year
1
Molecular Signature of CAID Syndrome: Noncanonical Roles of SGO1 in Regulation of TGF-β Signaling and Epigenomics. ( 30739867 )
2018
2
Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm. ( 25282101 )
2014
3
AIDS in Denmark and immunological parameters among homosexual danish men with special reference to the prognosis of patients with low H/S ratios. A report from the CAID. ( 6087723 )
1983

Variations for Chronic Atrial and Intestinal Dysrhythmia

UniProtKB/Swiss-Prot genetic disease variations for Chronic Atrial and Intestinal Dysrhythmia:

76
# Symbol AA change Variation ID SNP ID
1 SGO1 p.Lys23Glu VAR_072709 rs199815268

ClinVar genetic disease variations for Chronic Atrial and Intestinal Dysrhythmia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SGO1 NM_001199252.2(SGO1): c.67A> G (p.Lys23Glu) single nucleotide variant Pathogenic rs199815268 GRCh37 Chromosome 3, 20225453: 20225453
2 SGO1 NM_001199252.2(SGO1): c.67A> G (p.Lys23Glu) single nucleotide variant Pathogenic rs199815268 GRCh38 Chromosome 3, 20183961: 20183961

Expression for Chronic Atrial and Intestinal Dysrhythmia

Search GEO for disease gene expression data for Chronic Atrial and Intestinal Dysrhythmia.

Pathways for Chronic Atrial and Intestinal Dysrhythmia

Pathways related to Chronic Atrial and Intestinal Dysrhythmia according to KEGG:

38
# Name Kegg Source Accession
1 Oocyte meiosis hsa04114

Pathways related to Chronic Atrial and Intestinal Dysrhythmia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.04 BUB1 SGO1
2
Show member pathways
11.79 BUB1 SGO1
3
Show member pathways
11.51 BUB1 SGO1
4
Show member pathways
10.67 BUB1 SGO1
5
Show member pathways
10.28 BUB1 SGO1

GO Terms for Chronic Atrial and Intestinal Dysrhythmia

Cellular components related to Chronic Atrial and Intestinal Dysrhythmia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromosome GO:0005694 9.26 BUB1 SGO1
2 kinetochore GO:0000776 9.16 BUB1 SGO1
3 chromosome, centromeric region GO:0000775 8.96 BUB1 SGO1
4 condensed chromosome kinetochore GO:0000777 8.62 BUB1 SGO1

Biological processes related to Chronic Atrial and Intestinal Dysrhythmia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell division GO:0051301 8.96 BUB1 SGO1
2 chromosome segregation GO:0007059 8.62 BUB1 SGO1

Sources for Chronic Atrial and Intestinal Dysrhythmia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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