MCID: CHR515
MIFTS: 26

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 53 12 49 24 71 28 14 69
Caid Syndrome 12 49 55
Caid 53 24 71
Cohesinopathy Affecting Heart and Gut Rhythm 49 24
Chronic Atrial Dysrhythmia-Intestinal Motility Disorder 55
Chronic Atrial and Intestinal Dysrhythmia Syndrome 55
Chronic Atrial Intestinal Dysrhythmia Syndrome 49

Characteristics:

Orphanet epidemiological data:

55
chronic atrial and intestinal dysrhythmia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood;

OMIM:

53
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:



External Ids:

OMIM 53 616201
Disease Ontology 12 DOID:0060339
Orphanet 55 ORPHA435988
ICD10 via Orphanet 33 K59.8
UMLS 69 C4015474

Summaries for Chronic Atrial and Intestinal Dysrhythmia

Genetics Home Reference : 24 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 aging and alacrima, achalasia, and mental retardation syndrome, and has symptoms including failure to thrive, bicuspid aortic valve and mitral regurgitation. An important gene associated with Chronic Atrial and Intestinal Dysrhythmia is SGO1 (Shugoshin 1). Affiliated tissues include heart, smooth muscle and skin.

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 : 71 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 aging 9.9
2 alacrima, achalasia, and mental retardation syndrome 9.9

Symptoms & Phenotypes for Chronic Atrial and Intestinal Dysrhythmia

Symptoms via clinical synopsis from OMIM:

53
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 Gastroin testinal:
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:

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

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 28 SGO1

Anatomical Context for Chronic Atrial and Intestinal Dysrhythmia

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

38
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
Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm. ( 25282101 )
2014
2
The validity of the Child and Adolescent Intellectual Disability Screening Questionnaire (CAIDS-Q) with children aged 6-7 years, 11 months: a brief report. ( 23850206 )
2013

Variations for Chronic Atrial and Intestinal Dysrhythmia

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

71
# 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

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....