CAID
MCID: CHR515
MIFTS: 44

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 56 12 52 25 73 36 6 15 71
Caid Syndrome 12 52 58
Caid 56 25 73
Cohesinopathy Affecting Heart and Gut Rhythm 52 25
Chronic Atrial Dysrhythmia-Intestinal Motility Disorder 58
Chronic Atrial and Intestinal Dysrhythmia Syndrome 58
Chronic Atrial Intestinal Dysrhythmia Syndrome 52
Dysrhythmia, Atrial and Intestinal, Chronic 39

Characteristics:

Orphanet epidemiological data:

58
chronic atrial and intestinal dysrhythmia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood;

OMIM:

56
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:

31
chronic atrial and intestinal dysrhythmia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare gastroenterological diseases


External Ids:

Disease Ontology 12 DOID:0060339
OMIM 56 616201
KEGG 36 H02122
ICD10 via Orphanet 33 K59.8
Orphanet 58 ORPHA435988
UMLS 71 C4015474

Summaries for Chronic Atrial and Intestinal Dysrhythmia

Genetics Home Reference : 25 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. Sick sinus syndrome (also known as sinus node dysfunction) is an abnormality of the sinoatrial (SA) node, which is an area of specialized cells in the heart that functions as a natural pacemaker. The SA node generates electrical impulses that start each heartbeat. These signals travel from the SA node to the rest of the heart, signaling the heart (cardiac) muscle to contract and pump blood. In people with sick sinus syndrome, the SA node does not function normally, which usually causes the heartbeat to be too slow (bradycardia), although occasionally the heartbeat is too fast (tachycardia) or rapidly switches from being too fast to being too slow (tachycardia-bradycardia syndrome). Symptoms related to abnormal heartbeats can include dizziness, light-headedness, fainting (syncope), a sensation of fluttering or pounding in the chest (palpitations), and confusion or memory problems. During exercise, many affected individuals experience chest pain, difficulty breathing, or excessive tiredness (fatigue). In intestinal pseudo-obstruction, impairment of peristalsis leads to a buildup of partially digested food in the intestines, abdominal swelling (distention) and pain, nausea, vomiting, and constipation or diarrhea. Affected individuals experience loss of appetite and impaired ability to absorb nutrients, which may lead to malnutrition. These symptoms resemble those caused by an intestinal blockage (obstruction) such as a tumor, but in intestinal pseudo-obstruction no such blockage is found.

MalaCards based summary : Chronic Atrial and Intestinal Dysrhythmia, also known as caid syndrome, is related to intestinal pseudo-obstruction and dementia. An important gene associated with Chronic Atrial and Intestinal Dysrhythmia is SGO1 (Shugoshin 1), and among its related pathways/superpathways are Oocyte meiosis and Cell Cycle, Mitotic. The drugs Dialysis Solutions and Liver Extracts have been mentioned in the context of this disorder. Affiliated tissues include heart, smooth muscle and liver, 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).

KEGG : 36 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.

UniProtKB/Swiss-Prot : 73 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.

More information from OMIM: 616201

Related Diseases for Chronic Atrial and Intestinal Dysrhythmia

Graphical network of the top 20 diseases related to Chronic Atrial and Intestinal Dysrhythmia:



Diseases related to Chronic Atrial and Intestinal Dysrhythmia

Symptoms & Phenotypes for Chronic Atrial and Intestinal Dysrhythmia

Human phenotypes related to Chronic Atrial and Intestinal Dysrhythmia:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 bicuspid aortic valve 31 occasional (7.5%) HP:0001647
2 mitral regurgitation 31 occasional (7.5%) HP:0001653
3 pulmonic stenosis 31 occasional (7.5%) HP:0001642
4 atrial fibrillation 31 occasional (7.5%) HP:0005110
5 atrial flutter 31 occasional (7.5%) HP:0004749
6 failure to thrive 31 HP:0001508
7 bradycardia 31 HP:0001662
8 sick sinus syndrome 31 HP:0011704

Symptoms via clinical synopsis from OMIM:

56
Growth Other:
failure to thrive

Growth Weight:
low weight

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

Cardiovascular Heart:
bradycardia
sick sinus syndrome
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:

26 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.5 H2AC18
2 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.5 ESCO1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.5 SMC1A
4 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.5 H2AC18
5 Increased shRNA abundance (Z-score > 2) GR00366-A-191 9.5 SMC1A
6 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.5 ESCO1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-201 9.5 SMC1A
8 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.5 H2AC18
9 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.5 SMC1A
10 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.5 SMC1A
11 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.5 ESCO1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.5 ESCO1 H2AC18 SMC1A
13 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.5 H2AC18
14 Effect on mitosis GR00257-A-2 9.26 RAD21 SGO1 SMC1A SMC3

Drugs & Therapeutics for Chronic Atrial and Intestinal Dysrhythmia

Drugs for Chronic Atrial and Intestinal Dysrhythmia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Dialysis Solutions Phase 2, Phase 3
2 Liver Extracts Phase 2, Phase 3
3 Anti-Inflammatory Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Prospective Randomized Single-blind Study on Transfer-factor in Acute Decompensation of Advanced Chronic Liver Disease and Acute-on-chronic Liver Failure. Recruiting NCT02837939 Phase 2, Phase 3 Human derived Transfer factor;Aqua pro injectione 4ml ampules for subcutaneous injection
2 A Pilot Study Investigating a Decentralized Approach to Studying Dietary Intervention in Patients With Ulcerative Colitis Unknown status NCT02357537

Search 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:

40
Heart, Smooth Muscle, Liver, T Cells, Skin, Bone

Publications for Chronic Atrial and Intestinal Dysrhythmia

Articles related to Chronic Atrial and Intestinal Dysrhythmia:

(show all 44)
# Title Authors PMID Year
1
Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm. 61 56 6
25282101 2014
2
Age Distribution, Comorbidities and Risk Factors for Thrombosis in Prader-Willi Syndrome. 61
31936105 2020
3
Properties of the Continuous Assessment of Interpersonal Dynamics Across Sex, Level of Familiarity, and Interpersonal Conflict. 61
30221975 2020
4
Dietary inclusion of fibrous ingredients and bird type influence apparent ileal digestibility of nutrients and energy utilization. 61
31298288 2019
5
The expanding phenotypes of cohesinopathies: one ring to rule them all! 61
31516082 2019
6
Impact of corn particle size on nutrient digestibility varies depending on bird type. 61
31329975 2019
7
CD8+T cells from patients with cirrhosis display a phenotype that may contribute to cirrhosis-associated immune dysfunction. 61
31678004 2019
8
Causes and Consequences of Innate Immune Dysfunction in Cirrhosis. 61
30873165 2019
9
Molecular Signature of CAID Syndrome: Noncanonical Roles of SGO1 in Regulation of TGF-β Signaling and Epigenomics. 61
30739867 2019
10
Hyperactive Follicular Helper T Cells Contribute to Dysregulated Humoral Immunity in Patients With Liver Cirrhosis. 61
31456809 2019
11
Inferring Transmission Histories of Rare Alleles in Population-Scale Genealogies. 61
30526866 2018
12
Feeding broilers with dry whey powder and whey protein concentrate affected productive performance, ileal digestibility of nutrients and cecal microbiota community. 61
28877767 2018
13
Critical role of mitosis in spontaneous late-onset Alzheimer's disease; from a Shugoshin 1 cohesinopathy mouse model. 61
30231670 2018
14
In vitro Antioxidant and Antiproliferative Activities of Various Solvent Fractions from Clerodendrum viscosum Leaves. 61
28808404 2017
15
Momentary patterns of covariation between specific affects and interpersonal behavior: Linking relationship science and personality assessment. 61
27148786 2017
16
How do depressive symptoms in husbands and wives relate to the interpersonal dynamics of marital interactions? 61
27505282 2016
17
Pigs that are divergent in feed efficiency, differ in intestinal enzyme and nutrient transporter gene expression, nutrient digestibility and microbial activity. 61
27173889 2016
18
Influence of partial replacement of ground wheat with whole wheat and exogenous enzyme supplementation on growth performance, nutrient digestibility and energy utilization in young broilers. 61
27080922 2016
19
[Clinical features and significance of cirrhosis-associated immune dysfunction]. 61
27938555 2016
20
Influence of Palm Kernel Meal Inclusion and Exogenous Enzyme Supplementation on Growth Performance, Energy Utilization, and Nutrient Digestibility in Young Broilers. 61
26949955 2016
21
Determination of basal ileal endogenous losses and standardized ileal digestibility of amino acids in barley fed to growing pigs. 61
27708773 2016
22
2-Carbamido-1,3-indandione - a Fluorescent Molecular Probe and Sunscreen Candidate. 61
26342735 2015
23
Hydrodynamic body shape analysis and their impact on swimming performance. 61
26898107 2015
24
Cohesin embraces new phenotypes. 61
25352100 2014
25
Improvements in growth performance, bone mineral status and nutrient digestibility in pigs following the dietary inclusion of phytase are accompanied by modifications in intestinal nutrient transporter gene expression. 61
24998244 2014
26
Blunt cerebrovascular injury in rugby and other contact sports: case report and review of the literature. 61
24872841 2014
27
Apparent ileal digestibility of energy, nitrogen, and amino acids of soybean meals of different origin in broilers. 61
19038818 2008
28
Frequency of concurrent autoimmune disorders in patients with autoimmune hepatitis: effect of age, gender, and genetic background. 61
18223493 2008
29
Evaluation of the new chromogenic medium Candida ID 2 for isolation and identification of Candida albicans and other medically important Candida species. 61
16954270 2006
30
Downregulation of Rac1 activation by caffeic acid in aortic smooth muscle cells. 61
15808886 2005
31
Identification and functional characterisation of genes and corresponding enzymes involved in carnitine metabolism of Proteus sp. 61
15731894 2005
32
Michigan health plan sees pluses in new contract. 61
15526996 2004
33
Involvement of coenzyme A esters and two new enzymes, an enoyl-CoA hydratase and a CoA-transferase, in the hydration of crotonobetaine to L-carnitine by Escherichia coli. 61
11551212 2001
34
Biotransformation of crotonobetaine to L(-)-carnitine in Proteus sp. 61
11409545 2001
35
Epigenetic regulation of carnitine metabolising enzymes in Proteus sp. under aerobic conditions. 61
11257539 2001
36
An elementary school-based health clinic: can it reduce medicaid costs? 61
10742320 2000
37
Elevated levels of cytokeratin 19 in the bronchoalveolar lavage fluid of patients with chronic airway inflammatory diseases--a specific marker for bronchial epithelial injury. 61
9105057 1997
38
Molecular characterization of the cai operon necessary for carnitine metabolism in Escherichia coli. 61
7815937 1994
39
Ventricular interaction in the pathologic heart. A model based study. 61
8555620 1994
40
The use of computer-assisted diagnosis in cardiac perfusion nuclear medicine studies: a review (Part 3) 61
8334175 1993
41
The use of computer-assisted diagnosis in cardiac perfusion nuclear medicine studies: a review (Part 2). 61
8439577 1993
42
The effect of some anticoagulants against three commensal rodents under laboratory conditions. 61
2332657 1990
43
Emergency room leavers: a demographic and interview profile. 61
6434597 1984
44
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. 61
6087723 1983

Variations for Chronic Atrial and Intestinal Dysrhythmia

ClinVar genetic disease variations for Chronic Atrial and Intestinal Dysrhythmia:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SGO1 NM_001199251.3(SGO1):c.67A>G (p.Lys23Glu)SNV Pathogenic 162627 rs199815268 3:20225453-20225453 3:20183961-20183961

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

73
# Symbol AA change Variation ID SNP ID
1 SGO1 p.Lys23Glu VAR_072709 rs199815268

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:

36
# Name Kegg Source Accession
1 Oocyte meiosis hsa04114

GO Terms for Chronic Atrial and Intestinal Dysrhythmia

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.1 SMC3 SMC1A SGO1 RAD21 NIPBL HDAC8
2 nucleoplasm GO:0005654 10.02 SMC3 SMC1A SGO1 RAD21 NIPBL HDAC8
3 spindle pole GO:0000922 9.63 SGO1 RAD21 DDX11
4 chromosome, centromeric region GO:0000775 9.62 SMC3 SMC1A SGO1 RAD21
5 nuclear matrix GO:0016363 9.61 SMC3 SMC1A RAD21
6 nuclear chromosome GO:0000228 9.51 NIPBL HDAC8
7 condensed nuclear chromosome GO:0000794 9.49 SMC1A RAD21
8 mitotic spindle pole GO:0097431 9.48 SMC3 SMC1A
9 cohesin complex GO:0008278 9.43 SMC3 SMC1A RAD21
10 chromatin GO:0000785 9.35 SMC3 RAD21 NIPBL ESCO2 ESCO1
11 meiotic cohesin complex GO:0030893 9.33 SMC3 SMC1A RAD21
12 chromosome GO:0005694 9.28 SMC3 SMC1A SGO1 RAD21 NIPBL H2AC18

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cell division GO:0051301 9.84 SMC3 SMC1A SGO1 RAD21
2 DNA repair GO:0006281 9.83 SMC3 SMC1A RAD21 DDX11
3 cellular response to DNA damage stimulus GO:0006974 9.72 SMC3 SMC1A RAD21 NIPBL DDX11
4 meiotic cell cycle GO:0051321 9.69 SMC3 SMC1A RAD21
5 chromosome segregation GO:0007059 9.63 SGO1 RAD21 ESCO2
6 double-strand break repair GO:0006302 9.61 RAD21 NIPBL ESCO2
7 stem cell population maintenance GO:0019827 9.58 SMC3 SMC1A NIPBL
8 chromosome organization GO:0051276 9.56 SMC3 SMC1A
9 regulation of mitotic spindle assembly GO:1901673 9.55 SMC3 SMC1A
10 cell cycle GO:0007049 9.5 SMC3 SMC1A SGO1 RAD21 NIPBL ESCO2
11 protein localization to chromatin GO:0071168 9.49 RAD21 ESCO2
12 mitotic sister chromatid cohesion GO:0007064 9.48 SMC1A NIPBL
13 positive regulation of sister chromatid cohesion GO:0045876 9.37 RAD21 DDX11
14 regulation of DNA replication GO:0006275 9.33 SMC3 ESCO2 ESCO1
15 post-translational protein acetylation GO:0034421 9.26 ESCO2 ESCO1
16 sister chromatid cohesion GO:0007062 9.17 SMC3 SMC1A RAD21 HDAC8 ESCO2 ESCO1

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

# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.35 SMC3 SMC1A RAD21 NIPBL DDX11
2 acetyltransferase activity GO:0016407 9.16 ESCO2 ESCO1
3 mediator complex binding GO:0036033 8.8 SMC3 SMC1A NIPBL

Sources for Chronic Atrial and Intestinal Dysrhythmia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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