MCID: CHR557
MIFTS: 30

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 50 56 29
Chronic Intestinal Pseudo-Obstruction 52 69
Cipo 50 56

Characteristics:

Orphanet epidemiological data:

56
chronic intestinal pseudoobstruction
Age of onset: All ages;

Classifications:



External Ids:

Orphanet 56 ORPHA2978
UMLS via Orphanet 70 C0238062
ICD10 via Orphanet 34 K59.8

Summaries for Chronic Intestinal Pseudoobstruction

NIH Rare Diseases : 50 chronic intestinal pseudo-obstruction (cipo) is a rare but serious condition characterized by repetitive episodes or continuous symptoms of bowel obstruction when no blockage exists. 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. 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. primary or idiopathic (where the cause is unknown) cipo occurs by itself. secondary cipo develops as a complication of another medical condition. some people with primary cipo have gain or loss of genetic material in the flna gene. the diagnosis of cipo is clinical and other conditions with similar symptoms should be ruled out. treatment may include nutritional support, medications, decompression or surgery. management may require specialists from a variety of backgrounds.  last updated: 11/19/2015

MalaCards based summary : Chronic Intestinal Pseudoobstruction, also known as chronic intestinal pseudo-obstruction, is related to visceral myopathy and chronic atrial and intestinal dysrhythmia, and has symptoms including patent ductus arteriosus, pyloric stenosis and intestinal malrotation. 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 Diseases for Chronic Intestinal Pseudoobstruction

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

(show all 19)
id Related Disease Score Top Affiliating Genes
1 visceral myopathy 11.3
2 chronic atrial and intestinal dysrhythmia 11.3
3 mungan syndrome 11.1
4 actg2-related disorders 11.0
5 intestinal pseudo-obstruction 10.9
6 dermatomyositis 9.8
7 autonomic neuropathy 9.8
8 myopathy 9.8
9 connective tissue disease 9.8
10 intestinal obstruction 9.8
11 neuropathy 9.8
12 sakati syndrome 9.8
13 rheumatoid arthritis 9.8
14 arthritis 9.8
15 fetal alcohol syndrome 9.8
16 hidrocystoma 9.4 ACTG2 SOX10
17 hypoglossal nerve neoplasm 9.4 DES SOX10
18 clear cell sarcoma 9.4 ACTG2 DES
19 chronic thromboembolic pulmonary hypertension 8.9 ACTG2 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:

56 32 (show all 6)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 patent ductus arteriosus 56 32 occasional (7.5%) Occasional (29-5%) HP:0001643
2 pyloric stenosis 56 32 frequent (33%) Frequent (79-30%) HP:0002021
3 intestinal malrotation 56 32 frequent (33%) Frequent (79-30%) HP:0002566
4 abnormal platelet morphology 56 32 occasional (7.5%) Occasional (29-5%) HP:0011875
5 abnormality of nervous system morphology 56 32 frequent (33%) Frequent (79-30%) HP:0012639
6 abnormality of the intestine 56 Very frequent (99-80%)

Drugs & Therapeutics for Chronic Intestinal Pseudoobstruction

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions

Interventional clinical trials:


id 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
3 Prevention of Parenteral Nutrition-Associated Cholestasis With Cyclic Parenteral Nutrition in Infants Terminated NCT01062815

Search NIH Clinical Center for Chronic Intestinal Pseudoobstruction

Genetic Tests for Chronic Intestinal Pseudoobstruction

Genetic tests related to Chronic Intestinal Pseudoobstruction:

id 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 21)
id Title Authors Year
1
A Case of Dermatomyositis and Anti-EJ Autoantibody with Chronic Intestinal Pseudoobstruction Successfully Treated with Octreotide. ( 27885350 )
2016
2
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
3
Isolated congenital megacystis without intestinal obstruction: a mild variant of chronic intestinal pseudoobstruction syndrome? ( 22075369 )
2011
4
Stomal prolapse in children with chronic intestinal pseudoobstruction: a frequent complication? ( 21034950 )
2010
5
Visceral myopathy causing chronic intestinal pseudoobstruction and intestinal failure in a child with Sanjad-Sakati syndrome. ( 20152369 )
2010
6
The role of immunohistochemistry in idiopathic chronic intestinal pseudoobstruction (CIPO): a case-control study. ( 19252433 )
2009
7
Clinical Images: chronic intestinal pseudoobstruction and the "hide-bound" bowel sign. ( 17469174 )
2007
8
Gastric electrical stimulation for intractable vomiting in patients with chronic intestinal pseudoobstruction. ( 16918761 )
2006
9
Diagnosis and management of adult patients with chronic intestinal pseudoobstruction. ( 16439766 )
2006
10
Chronic intestinal pseudoobstruction: report of four pediatric patients. ( 16252200 )
2005
11
Chronic Intestinal Pseudoobstruction. ( 15238207 )
2004
12
Chronic intestinal pseudoobstruction associated with altered interstitial cells of cajal networks. ( 12658043 )
2003
13
Chronic intestinal pseudoobstruction ileus in a patient with rheumatoid arthritis: outcome of a stoma construction and its histopathological features. ( 12203083 )
2002
14
A normal gastrointestinal motility excludes chronic intestinal pseudoobstruction in children. ( 10711435 )
2000
15
Acute on chronic intestinal pseudoobstruction responds to neostigmine. ( 11007118 )
2000
16
Chronic intestinal pseudoobstruction syndrome: clinical analysis, outcome, and prognosis in 105 children. French-Speaking Group of Pediatric Gastroenterology. ( 10235603 )
1999
17
Octreotide treatment of chronic intestinal pseudoobstruction secondary to connective tissue diseases. ( 10403284 )
1999
18
Re: Pulliman and Schuster: congenital markers for chronic intestinal pseudoobstruction. ( 8995976 )
1997
19
Chronic intestinal pseudoobstruction associated with fetal alcohol syndrome. ( 9201078 )
1997
20
Chronic intestinal pseudoobstruction associated with autoantibodies against proliferating cell nuclear antigen. ( 8639186 )
1996
21
Electrogastrography in chronic intestinal pseudoobstruction. ( 8689901 )
1996

Variations for Chronic Intestinal Pseudoobstruction

ClinVar genetic disease variations for Chronic Intestinal Pseudoobstruction:

6
id 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.769C> T (p.Arg257Cys) single nucleotide variant Pathogenic rs587777387 GRCh37 Chromosome 2, 74141962: 74141962
3 ACTG2 NM_001615.3(ACTG2): c.770G> A (p.Arg257His) single nucleotide variant Pathogenic rs797044959 GRCh37 Chromosome 2, 74141963: 74141963
4 ACTG2 NM_001615.3(ACTG2): c.113G> A (p.Arg38His) single nucleotide variant Pathogenic rs869312168 GRCh37 Chromosome 2, 74128551: 74128551

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:

id Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 8.65 ACTG2
2 muscle contraction GO:0006936 8.62 ACTG2 DES

Sources for Chronic Intestinal Pseudoobstruction

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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