MCID: CHR557
MIFTS: 32

Chronic Intestinal Pseudoobstruction

Categories: Rare diseases, Gastrointestinal diseases

Aliases & Classifications for Chronic Intestinal Pseudoobstruction

MalaCards integrated aliases for Chronic Intestinal Pseudoobstruction:

Name: Chronic Intestinal Pseudoobstruction 53 59 29 6
Chronic Intestinal Pseudo-Obstruction 55 73
Cipo 53 59

Characteristics:

Orphanet epidemiological data:

59
chronic intestinal pseudoobstruction
Age of onset: All ages;

Classifications:



External Ids:

Orphanet 59 ORPHA2978
UMLS via Orphanet 74 C0238062
ICD10 via Orphanet 34 K59.8
UMLS 73 C0238062

Summaries for Chronic Intestinal Pseudoobstruction

NIH Rare Diseases : 53 Chronic intestinal pseudo-obstruction (CIPO) is a rare disease characterized by repetitive episodes or continuous symptoms of bowel obstruction when no blockage exists. Problems with nerves, muscles, or interstitial cells of Cajal (the cells that set the pace of intestinal contractions) prevent normal contractions and cause problems with the movement of food, fluid, and air through the intestines. The most common symptoms are abdominal swelling or bloating (distention), vomiting, abdominal pain, failure to thrive, diarrhea, constipation, feeding intolerance and urinary symptoms. CIPO can occur in people of any age. It may be primary or secondary. Primary or idiopathic (where the cause is unknown) CIPO occurs by itself. Secondary CIPO develops as a complication of another medical condition. In some people with CIPO, the condition is caused by variations (mutations) affecting the FLNA or ACTG2 gene. Before making the diagnosis other conditions with similar symptoms should be ruled out.  Treatment aims to restore the normal bowel movements and to correct nutritional deficiencies. Treatment may include antibiotics, prokinetic medications (metoclopramide, cisapride), surgical excision of intestinal segments in cases of localized disease, and parenteral nutrition. Intestinal transplantation has been successful in some cases. Several specialists may be needed for better management of the disease.

MalaCards based summary : Chronic Intestinal Pseudoobstruction, also known as chronic intestinal pseudo-obstruction, is related to intestinal pseudo-obstruction and microcolon. An important gene associated with Chronic Intestinal Pseudoobstruction is ACTG2 (Actin, Gamma 2, Smooth Muscle, Enteric), and among its related pathways/superpathways are ERK Signaling and Cardiac conduction. The drug Pharmaceutical Solutions has been mentioned in the context of this disorder. Related phenotypes are patent ductus arteriosus and pyloric stenosis

Related Diseases for Chronic Intestinal Pseudoobstruction

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

(show all 20)
# Related Disease Score Top Affiliating Genes
1 intestinal pseudo-obstruction 31.2 ACTG2 SOX10
2 microcolon 28.7 ACTG2 DES
3 visceral myopathy 11.4
4 chronic atrial and intestinal dysrhythmia 11.4
5 mungan syndrome 11.2
6 actg2-related disorders 11.1
7 acrocephalopolysyndactyly type iii 9.9
8 systemic lupus erythematosus 9.9
9 rheumatoid arthritis 9.9
10 arthritis 9.9
11 fetal alcohol syndrome 9.9
12 dermatomyositis 9.9
13 autonomic neuropathy 9.9
14 myopathy 9.9
15 connective tissue disease 9.9
16 intestinal obstruction 9.9
17 neuropathy 9.9
18 lupus erythematosus 9.9
19 sakati syndrome 9.9
20 neurilemmoma 9.0 DES SOX10

Graphical network of the top 20 diseases related to Chronic Intestinal Pseudoobstruction:



Diseases related to Chronic Intestinal Pseudoobstruction

Symptoms & Phenotypes for Chronic Intestinal Pseudoobstruction

Human phenotypes related to Chronic Intestinal Pseudoobstruction:

59 32 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 patent ductus arteriosus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001643
2 pyloric stenosis 59 32 frequent (33%) Frequent (79-30%) HP:0002021
3 intestinal malrotation 59 32 frequent (33%) Frequent (79-30%) HP:0002566
4 abnormal platelet morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0011875
5 abnormality of nervous system morphology 59 32 frequent (33%) Frequent (79-30%) HP:0012639
6 abnormality of the intestine 59 Very frequent (99-80%)

Drugs & Therapeutics for Chronic Intestinal Pseudoobstruction

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Efficacy Study of Prucalopride to Treat Chronic Intestinal Pseudo-Obstruction (CIP) Completed NCT00793247 Phase 2 PRU-PLA-PRU-PLA;PLA-PRU-PLA-PRU;PLA-PRU-PRU-PLA;PRU-PLA-PLA-PRU
2 Efficacy and Safety of Fecal Microbiota Transplantation for Chronic Intestinal Pseudo-obstruction Completed NCT02731183 Not Applicable
3 Prevention of Parenteral Nutrition-Associated Cholestasis With Cyclic Parenteral Nutrition in Infants Terminated NCT01062815 Not Applicable

Search NIH Clinical Center for Chronic Intestinal Pseudoobstruction

Genetic Tests for Chronic Intestinal Pseudoobstruction

Genetic tests related to Chronic Intestinal Pseudoobstruction:

# Genetic test Affiliating Genes
1 Chronic Intestinal Pseudoobstruction 29

Anatomical Context for Chronic Intestinal Pseudoobstruction

Publications for Chronic Intestinal Pseudoobstruction

Articles related to Chronic Intestinal Pseudoobstruction:

(show all 24)
# Title Authors Year
1
Nutritional Interventions in Chronic Intestinal Pseudoobstruction. ( 29413013 )
2018
2
A Novel Mutation in ACTG2 Gene in Mother with Chronic Intestinal Pseudoobstruction and Fetus with Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. ( 29387497 )
2017
3
A Case of Dermatomyositis and Anti-EJ Autoantibody with Chronic Intestinal Pseudoobstruction Successfully Treated with Octreotide. ( 27885350 )
2016
4
GAD Antibodies as Key Link Between Chronic Intestinal Pseudoobstruction, Autonomic Neuropathy, and Limb Stiffness in a Nondiabetic Patient: A CARE-Compliant Case Report and Review of the Literature. ( 26252289 )
2015
5
Isolated congenital megacystis without intestinal obstruction: a mild variant of chronic intestinal pseudoobstruction syndrome? ( 22075369 )
2011
6
Stomal prolapse in children with chronic intestinal pseudoobstruction: a frequent complication? ( 21034950 )
2010
7
Visceral myopathy causing chronic intestinal pseudoobstruction and intestinal failure in a child with Sanjad-Sakati syndrome. ( 20152369 )
2010
8
The role of immunohistochemistry in idiopathic chronic intestinal pseudoobstruction (CIPO): a case-control study. ( 19252433 )
2009
9
Clinical Images: chronic intestinal pseudoobstruction and the "hide-bound" bowel sign. ( 17469174 )
2007
10
Gastric electrical stimulation for intractable vomiting in patients with chronic intestinal pseudoobstruction. ( 16918761 )
2006
11
Diagnosis and management of adult patients with chronic intestinal pseudoobstruction. ( 16439766 )
2006
12
Chronic intestinal pseudoobstruction: report of four pediatric patients. ( 16252200 )
2005
13
Chronic Intestinal Pseudoobstruction. ( 15238207 )
2004
14
Chronic intestinal pseudoobstruction associated with altered interstitial cells of cajal networks. ( 12658043 )
2003
15
Chronic intestinal pseudoobstruction ileus in a patient with rheumatoid arthritis: outcome of a stoma construction and its histopathological features. ( 12203083 )
2002
16
Acute on chronic intestinal pseudoobstruction responds to neostigmine. ( 11007118 )
2000
17
A normal gastrointestinal motility excludes chronic intestinal pseudoobstruction in children. ( 10711435 )
2000
18
Chronic intestinal pseudoobstruction syndrome: clinical analysis, outcome, and prognosis in 105 children. French-Speaking Group of Pediatric Gastroenterology. ( 10235603 )
1999
19
Octreotide treatment of chronic intestinal pseudoobstruction secondary to connective tissue diseases. ( 10403284 )
1999
20
Chronic intestinal pseudoobstruction associated with fetal alcohol syndrome. ( 9201078 )
1997
21
Re: Pulliman and Schuster: congenital markers for chronic intestinal pseudoobstruction. ( 8995976 )
1997
22
Electrogastrography in chronic intestinal pseudoobstruction. ( 8689901 )
1996
23
Chronic intestinal pseudoobstruction associated with autoantibodies against proliferating cell nuclear antigen. ( 8639186 )
1996
24
Systemic lupus erythematosus and chronic intestinal pseudoobstruction. ( 8474080 )
1993

Variations for Chronic Intestinal Pseudoobstruction

ClinVar genetic disease variations for Chronic Intestinal Pseudoobstruction:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ACTG2 NM_001615.3(ACTG2): c.442C> A (p.Arg148Ser) single nucleotide variant Pathogenic rs587777383 GRCh37 Chromosome 2, 74136257: 74136257
2 ACTG2 NM_001615.3(ACTG2): c.442C> A (p.Arg148Ser) single nucleotide variant Pathogenic rs587777383 GRCh38 Chromosome 2, 73909130: 73909130
3 ACTG2 NM_001615.3(ACTG2): c.769C> T (p.Arg257Cys) single nucleotide variant Pathogenic rs587777387 GRCh37 Chromosome 2, 74141962: 74141962
4 ACTG2 NM_001615.3(ACTG2): c.769C> T (p.Arg257Cys) single nucleotide variant Pathogenic rs587777387 GRCh38 Chromosome 2, 73914835: 73914835
5 ACTG2 NM_001615.3(ACTG2): c.770G> A (p.Arg257His) single nucleotide variant Pathogenic rs797044959 GRCh37 Chromosome 2, 74141963: 74141963
6 ACTG2 NM_001615.3(ACTG2): c.770G> A (p.Arg257His) single nucleotide variant Pathogenic rs797044959 GRCh38 Chromosome 2, 73914836: 73914836
7 ACTG2 NM_001615.3(ACTG2): c.113G> A (p.Arg38His) single nucleotide variant Pathogenic rs869312168 GRCh37 Chromosome 2, 74128551: 74128551
8 ACTG2 NM_001615.3(ACTG2): c.113G> A (p.Arg38His) single nucleotide variant Pathogenic rs869312168 GRCh38 Chromosome 2, 73901424: 73901424

Expression for Chronic Intestinal Pseudoobstruction

Search GEO for disease gene expression data for Chronic Intestinal Pseudoobstruction.

Pathways for Chronic Intestinal Pseudoobstruction

GO Terms for Chronic Intestinal Pseudoobstruction

Biological processes related to Chronic Intestinal Pseudoobstruction according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 8.96 ACTG2 SOX10
2 muscle contraction GO:0006936 8.62 ACTG2 DES

Sources for Chronic Intestinal Pseudoobstruction

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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