CIPO
MCID: CHR557
MIFTS: 38

Chronic Intestinal Pseudoobstruction (CIPO)

Categories: Gastrointestinal diseases, Rare 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. Affiliated tissues include lung, heart and colon, and related phenotypes are patent ductus arteriosus and abnormality of nervous system morphology

Related Diseases for Chronic Intestinal Pseudoobstruction

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

(show top 50) (show all 61)
# Related Disease Score Top Affiliating Genes
1 intestinal pseudo-obstruction 31.8 ACTG2 SOX10
2 microcolon 29.6 ACTG2 DES
3 visceral myopathy 11.6
4 mungan syndrome 11.4
5 actg2-related disorders 11.2
6 chronic atrial and intestinal dysrhythmia 11.1
7 myopathy 10.3
8 scleroderma, familial progressive 10.2
9 crohn's disease 10.1
10 achalasia 10.1
11 acrocephalopolysyndactyly type iii 10.0
12 systemic lupus erythematosus 10.0
13 rheumatoid arthritis 10.0
14 mitochondrial myopathy 10.0
15 bile duct cysts 10.0
16 arthritis 10.0
17 muscle disorders 10.0
18 fetal alcohol syndrome 10.0
19 alcohol-related birth defect 10.0
20 cardiac arrest 10.0
21 dermatomyositis 10.0
22 autonomic neuropathy 10.0
23 hypertrophic pyloric stenosis 10.0
24 pyloric stenosis 10.0
25 connective tissue disease 10.0
26 intestinal obstruction 10.0
27 neuropathy 10.0
28 lupus erythematosus 10.0
29 amyloidosis 10.0
30 encephalitis 10.0
31 muscular dystrophy 10.0
32 autoimmune disease 10.0
33 hirschsprung disease 1 10.0
34 treacher collins syndrome 1 10.0
35 oculopharyngodistal myopathy 10.0
36 small cell cancer of the lung 10.0
37 lung cancer 10.0
38 ellis-van creveld syndrome 10.0
39 enterocolitis 10.0
40 leigh syndrome 10.0
41 neuronal intranuclear inclusion disease 10.0
42 meconium ileus 10.0
43 schaaf-yang syndrome 10.0
44 hemophagocytic lymphohistiocytosis 10.0
45 pancreatic somatostatinoma 10.0
46 somatostatinoma 10.0
47 crest syndrome 10.0
48 gastroparesis 10.0
49 capillariasis 10.0
50 sick sinus syndrome 10.0

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 abnormality of nervous system morphology 59 32 frequent (33%) Frequent (79-30%) HP:0012639
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 pyloric stenosis 59 32 frequent (33%) Frequent (79-30%) HP:0002021
6 abnormality of the intestine 59 Very frequent (99-80%)

GenomeRNAi Phenotypes related to Chronic Intestinal Pseudoobstruction according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability in esophageal squamous lineage GR00235-A 8.8 ACTG2 DES SOX10

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

MalaCards organs/tissues related to Chronic Intestinal Pseudoobstruction:

41
Lung, Heart, Colon, Smooth Muscle

Publications for Chronic Intestinal Pseudoobstruction

Articles related to Chronic Intestinal Pseudoobstruction:

(show top 50) (show all 64)
# Title Authors Year
1
Nutritional Interventions in Chronic Intestinal Pseudoobstruction. ( 29413013 )
2018
2
Chronic intestinal pseudo-obstruction due to al amyloidosis: a case report and literature review. ( 30232705 )
2018
3
ACTG2-Associated Visceral Myopathy With Chronic Intestinal Pseudoobstruction, Intestinal Malrotation, Hypertrophic Pyloric Stenosis, Choledochal Cyst, and a Novel Missense Mutation. ( 30019982 )
2018
4
Chronic Intestinal Pseudo-Obstruction in Systemic Sclerosis: An Uncommon Presentation. ( 30057521 )
2018
5
Chronic intestinal pseudo-obstruction due to Strongyloides stercoralis. ( 30101070 )
2018
6
A case of prenatal chronic intestinal pseudo-obstruction associated with Leigh syndrome. ( 30147885 )
2018
7
Causes and prognosis of chronic intestinal pseudo-obstruction in 48 subjects: A 10-year retrospective case series. ( 30200110 )
2018
8
The chronic intestinal pseudo-obstruction subtype has prognostic significance in patients with severe gastrointestinal dysmotility related intestinal failure. ( 30290972 )
2018
9
A Report of Chronic Intestinal Pseudo-obstruction Related to Systemic Lupus Erythematosus. ( 30519633 )
2018
10
A Novel Mutation in ACTG2 Gene in Mother with Chronic Intestinal Pseudoobstruction and Fetus with Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. ( 29387497 )
2017
11
A Case of Dermatomyositis and Anti-EJ Autoantibody with Chronic Intestinal Pseudoobstruction Successfully Treated with Octreotide. ( 27885350 )
2016
12
Chronic intestinal pseudo-obstruction: An unusual presentation. ( 27852553 )
2016
13
Chronic Intestinal Pseudo-Obstruction. ( 30454107 )
2016
14
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
15
Visceral smooth muscle α-actin deficiency associated with chronic intestinal pseudo-obstruction in a Bengal cat (Felis catus x Prionailurus bengalensis). ( 23774747 )
2014
16
Chronic intestinal pseudo-obstruction due to lymphocytic intestinal leiomyositis: Case report and literature review. ( 25343071 )
2012
17
Isolated congenital megacystis without intestinal obstruction: a mild variant of chronic intestinal pseudoobstruction syndrome? ( 22075369 )
2011
18
A review of the reported cases of chronic intestinal pseudo-obstruction in Japan and an investigation of proposed new diagnostic criteria. ( 26189344 )
2011
19
Stomal prolapse in children with chronic intestinal pseudoobstruction: a frequent complication? ( 21034950 )
2010
20
Visceral myopathy causing chronic intestinal pseudoobstruction and intestinal failure in a child with Sanjad-Sakati syndrome. ( 20152369 )
2010
21
The role of immunohistochemistry in idiopathic chronic intestinal pseudoobstruction (CIPO): a case-control study. ( 19252433 )
2009
22
Neurogenic chronic intestinal pseudo-obstruction: antineuronal antibody-mediated activation of autophagy via Fas. ( 18582468 )
2008
23
Clinical Images: chronic intestinal pseudoobstruction and the "hide-bound" bowel sign. ( 17469174 )
2007
24
Gastric electrical stimulation for intractable vomiting in patients with chronic intestinal pseudoobstruction. ( 16918761 )
2006
25
Diagnosis and management of adult patients with chronic intestinal pseudoobstruction. ( 16439766 )
2006
26
Chronic intestinal pseudo-obstruction: assessment and management. ( 16473068 )
2006
27
Percutaneous endoscopic colostomy in a patient with chronic intestinal pseudo-obstruction and massive dilation of the colon. ( 16767603 )
2006
28
Chronic intestinal pseudoobstruction: report of four pediatric patients. ( 16252200 )
2005
29
Chronic Intestinal Pseudoobstruction. ( 15238207 )
2004
30
Chronic intestinal pseudoobstruction associated with altered interstitial cells of cajal networks. ( 12658043 )
2003
31
Chronic intestinal pseudoobstruction ileus in a patient with rheumatoid arthritis: outcome of a stoma construction and its histopathological features. ( 12203083 )
2002
32
Acute on chronic intestinal pseudoobstruction responds to neostigmine. ( 11007118 )
2000
33
A normal gastrointestinal motility excludes chronic intestinal pseudoobstruction in children. ( 10711435 )
2000
34
Chronic intestinal pseudoobstruction syndrome: clinical analysis, outcome, and prognosis in 105 children. French-Speaking Group of Pediatric Gastroenterology. ( 10235603 )
1999
35
Octreotide treatment of chronic intestinal pseudoobstruction secondary to connective tissue diseases. ( 10403284 )
1999
36
Chronic Intestinal Pseudo-obstruction. ( 11097724 )
1999
37
Chronic intestinal pseudoobstruction associated with fetal alcohol syndrome. ( 9201078 )
1997
38
Re: Pulliman and Schuster: congenital markers for chronic intestinal pseudoobstruction. ( 8995976 )
1997
39
Electrogastrography in chronic intestinal pseudoobstruction. ( 8689901 )
1996
40
Chronic intestinal pseudoobstruction associated with autoantibodies against proliferating cell nuclear antigen. ( 8639186 )
1996
41
Chronic intestinal pseudo-obstruction associated with cytomegalovirus infection in an infant. ( 8956187 )
1996
42
Congenital markers for chronic intestinal pseudoobstruction. ( 7771422 )
1995
43
The surgeon's role in the treatment of chronic intestinal pseudoobstruction. ( 8540505 )
1995
44
Chronic intestinal pseudo-obstruction in childhood: progress in diagnosis and treatment. ( 8578242 )
1995
45
Chronic intestinal pseudo-obstruction: diagnosis and treatment. ( 8775095 )
1995
46
Systemic lupus erythematosus and chronic intestinal pseudoobstruction. ( 8474080 )
1993
47
Chronic intestinal pseudoobstruction in a patient with heart-lung transplant. Therapeutic effect of leuprolide acetate. ( 1330462 )
1992
48
Paraneoplastic chronic intestinal pseudoobstruction as a rare complication of bronchial carcinoid. ( 1644319 )
1992
49
Chronic intestinal pseudoobstruction with myopathy and ophthalmoplegia. A muscular biochemical study of a mitochondrial disorder. ( 1735370 )
1992
50
Cisapride in children with chronic intestinal pseudoobstruction. An acute, double-blind, crossover, placebo-controlled trial. ( 1955122 )
1991

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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