MCID: CHR515
MIFTS: 27

Chronic Atrial and Intestinal Dysrhythmia

Categories: Genetic diseases, Rare diseases, Gastrointestinal diseases

Aliases & Classifications for Chronic Atrial and Intestinal Dysrhythmia

MalaCards integrated aliases for Chronic Atrial and Intestinal Dysrhythmia:

Name: Chronic Atrial and Intestinal Dysrhythmia 57 12 53 25 75 29 6 15 73
Caid Syndrome 12 53 59
Caid 57 25 75
Cohesinopathy Affecting Heart and Gut Rhythm 53 25
Chronic Atrial Dysrhythmia-Intestinal Motility Disorder 59
Chronic Atrial and Intestinal Dysrhythmia Syndrome 59
Chronic Atrial Intestinal Dysrhythmia Syndrome 53
Dysrhythmia, Atrial and Intestinal, Chronic 40

Characteristics:

Orphanet epidemiological data:

59
chronic atrial and intestinal dysrhythmia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood;

OMIM:

57
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:

32
chronic atrial and intestinal dysrhythmia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 616201
Disease Ontology 12 DOID:0060339
Orphanet 59 ORPHA435988
ICD10 via Orphanet 34 K59.8
UMLS 73 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.

MalaCards based summary : Chronic Atrial and Intestinal Dysrhythmia, also known as caid syndrome, is related to dementia and alzheimer disease. An important gene associated with Chronic Atrial and Intestinal Dysrhythmia is SGO1 (Shugoshin 1). Affiliated tissues include heart, smooth muscle and t cells, and related phenotypes are failure to thrive and pulmonic stenosis

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 : 75 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 10.0
2 alzheimer disease 9.9
3 aging 9.9
4 alacrima, achalasia, and mental retardation syndrome 9.9
5 heart disease 9.9

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Chronic Atrial and Intestinal Dysrhythmia:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 32 HP:0001508
2 pulmonic stenosis 32 occasional (7.5%) HP:0001642
3 bicuspid aortic valve 32 occasional (7.5%) HP:0001647
4 mitral regurgitation 32 occasional (7.5%) HP:0001653
5 bradycardia 32 HP:0001662
6 atrial flutter 32 occasional (7.5%) HP:0004749
7 atrial fibrillation 32 occasional (7.5%) HP:0005110
8 sick sinus syndrome 32 HP:0011704

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

Genetic tests related to Chronic Atrial and Intestinal Dysrhythmia:

# Genetic test Affiliating Genes
1 Chronic Atrial and Intestinal Dysrhythmia 29 SGO1

Anatomical Context for Chronic Atrial and Intestinal Dysrhythmia

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

41
Heart, Smooth Muscle, T Cells, Skin

Publications for Chronic Atrial and Intestinal Dysrhythmia

Articles related to Chronic Atrial and Intestinal Dysrhythmia:

# Title Authors Year
1
Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm. ( 25282101 )
2014

Variations for Chronic Atrial and Intestinal Dysrhythmia

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

75
# 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

GO Terms for Chronic Atrial and Intestinal Dysrhythmia

Sources for Chronic Atrial and Intestinal Dysrhythmia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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