CIPO
MCID: CHR557
MIFTS: 37

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 54 60 30 6
Chronic Intestinal Pseudo-Obstruction 56 74
Cipo 54 60

Characteristics:

Orphanet epidemiological data:

60
chronic intestinal pseudoobstruction
Age of onset: All ages;

Classifications:



External Ids:

ICD10 via Orphanet 35 K59.8
UMLS via Orphanet 75 C0238062
Orphanet 60 ORPHA2978
UMLS 74 C0238062

Summaries for Chronic Intestinal Pseudoobstruction

NIH Rare Diseases : 54 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), and among its related pathways/superpathways are Cytoskeletal Signaling and Arrhythmogenic right ventricular cardiomyopathy (ARVC). The drugs Prucalopride and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include lung and heart, and related phenotypes are abnormality of nervous system morphology and intestinal malrotation

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 31.5 ACTG2 RAD21 SOX10
2 microcolon 29.4 ACTG2 DES
3 visceral myopathy 11.6
4 mungan syndrome 11.3
5 actg2-related disorders 11.3
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 pure autonomic failure 10.1
11 achalasia 10.1
12 acrocephalopolysyndactyly type iii 10.0
13 systemic lupus erythematosus 10.0
14 rheumatoid arthritis 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 mitochondrial myopathy 10.0
27 intestinal obstruction 10.0
28 neuropathy 10.0
29 lupus erythematosus 10.0
30 amyloidosis 10.0
31 encephalitis 10.0
32 muscular dystrophy 10.0
33 autoimmune disease 10.0
34 hirschsprung disease 1 10.0
35 treacher collins syndrome 1 10.0
36 oculopharyngodistal myopathy 10.0
37 small cell cancer of the lung 10.0
38 lung cancer 10.0
39 ellis-van creveld syndrome 10.0
40 enterocolitis 10.0
41 leigh syndrome 10.0
42 neuronal intranuclear inclusion disease 10.0
43 meconium ileus 10.0
44 schaaf-yang syndrome 10.0
45 hemophagocytic lymphohistiocytosis 10.0
46 pancreatic somatostatinoma 10.0
47 somatostatinoma 10.0
48 crest syndrome 10.0
49 gastroparesis 10.0
50 capillariasis 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:

60 33 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of nervous system morphology 60 33 frequent (33%) Frequent (79-30%) HP:0012639
2 intestinal malrotation 60 33 frequent (33%) Frequent (79-30%) HP:0002566
3 pyloric stenosis 60 33 frequent (33%) Frequent (79-30%) HP:0002021
4 patent ductus arteriosus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001643
5 abnormal platelet morphology 60 33 occasional (7.5%) Occasional (29-5%) HP:0011875
6 abnormality of the intestine 60 Very frequent (99-80%)

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 8.8 ACTG2 DES RAD21

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
Prucalopride Approved Phase 2 179474-81-8
2 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 30

Anatomical Context for Chronic Intestinal Pseudoobstruction

MalaCards organs/tissues related to Chronic Intestinal Pseudoobstruction:

42
Lung, Heart

Publications for Chronic Intestinal Pseudoobstruction

Articles related to Chronic Intestinal Pseudoobstruction:

(show top 50) (show all 53)
# Title Authors Year
1
Histological characteristics of eosinophilic myenteric ganglionitis: an under-recognised cause of chronic intestinal pseudo-obstruction. ( 30607555 )
2019
2
Nutritional Interventions in Chronic Intestinal Pseudoobstruction. ( 29413013 )
2018
3
Chronic intestinal pseudo-obstruction due to al amyloidosis: a case report and literature review. ( 30232705 )
2018
4
ACTG2-Associated Visceral Myopathy With Chronic Intestinal Pseudoobstruction, Intestinal Malrotation, Hypertrophic Pyloric Stenosis, Choledochal Cyst, and a Novel Missense Mutation. ( 30019982 )
2018
5
Chronic Intestinal Pseudo-Obstruction in Systemic Sclerosis: An Uncommon Presentation. ( 30057521 )
2018
6
Chronic intestinal pseudo-obstruction due to Strongyloides stercoralis. ( 30101070 )
2018
7
A case of prenatal chronic intestinal pseudo-obstruction associated with Leigh syndrome. ( 30147885 )
2018
8
Causes and prognosis of chronic intestinal pseudo-obstruction in 48 subjects: A 10-year retrospective case series. ( 30200110 )
2018
9
The chronic intestinal pseudo-obstruction subtype has prognostic significance in patients with severe gastrointestinal dysmotility related intestinal failure. ( 30290972 )
2018
10
A Report of Chronic Intestinal Pseudo-obstruction Related to Systemic Lupus Erythematosus. ( 30519633 )
2018
11
A Novel Mutation in ACTG2 Gene in Mother with Chronic Intestinal Pseudoobstruction and Fetus with Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. ( 29387497 )
2017
12
A Case of Dermatomyositis and Anti-EJ Autoantibody with Chronic Intestinal Pseudoobstruction Successfully Treated with Octreotide. ( 27885350 )
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
Chronic intestinal pseudo-obstruction due to lymphocytic intestinal leiomyositis: Case report and literature review. ( 25343071 )
2012
16
Isolated congenital megacystis without intestinal obstruction: a mild variant of chronic intestinal pseudoobstruction syndrome? ( 22075369 )
2011
17
A review of the reported cases of chronic intestinal pseudo-obstruction in Japan and an investigation of proposed new diagnostic criteria. ( 26189344 )
2011
18
Stomal prolapse in children with chronic intestinal pseudoobstruction: a frequent complication? ( 21034950 )
2010
19
Visceral myopathy causing chronic intestinal pseudoobstruction and intestinal failure in a child with Sanjad-Sakati syndrome. ( 20152369 )
2010
20
The role of immunohistochemistry in idiopathic chronic intestinal pseudoobstruction (CIPO): a case-control study. ( 19252433 )
2009
21
Clinical Images: chronic intestinal pseudoobstruction and the "hide-bound" bowel sign. ( 17469174 )
2007
22
Gastric electrical stimulation for intractable vomiting in patients with chronic intestinal pseudoobstruction. ( 16918761 )
2006
23
Diagnosis and management of adult patients with chronic intestinal pseudoobstruction. ( 16439766 )
2006
24
Chronic intestinal pseudoobstruction: report of four pediatric patients. ( 16252200 )
2005
25
Chronic Intestinal Pseudoobstruction. ( 15238207 )
2004
26
Chronic intestinal pseudoobstruction associated with altered interstitial cells of cajal networks. ( 12658043 )
2003
27
Chronic intestinal pseudoobstruction ileus in a patient with rheumatoid arthritis: outcome of a stoma construction and its histopathological features. ( 12203083 )
2002
28
Acute on chronic intestinal pseudoobstruction responds to neostigmine. ( 11007118 )
2000
29
A normal gastrointestinal motility excludes chronic intestinal pseudoobstruction in children. ( 10711435 )
2000
30
Chronic intestinal pseudoobstruction syndrome: clinical analysis, outcome, and prognosis in 105 children. French-Speaking Group of Pediatric Gastroenterology. ( 10235603 )
1999
31
Octreotide treatment of chronic intestinal pseudoobstruction secondary to connective tissue diseases. ( 10403284 )
1999
32
Chronic intestinal pseudoobstruction associated with fetal alcohol syndrome. ( 9201078 )
1997
33
Re: Pulliman and Schuster: congenital markers for chronic intestinal pseudoobstruction. ( 8995976 )
1997
34
Electrogastrography in chronic intestinal pseudoobstruction. ( 8689901 )
1996
35
Chronic intestinal pseudoobstruction associated with autoantibodies against proliferating cell nuclear antigen. ( 8639186 )
1996
36
Congenital markers for chronic intestinal pseudoobstruction. ( 7771422 )
1995
37
The surgeon's role in the treatment of chronic intestinal pseudoobstruction. ( 8540505 )
1995
38
Chronic intestinal pseudo-obstruction: diagnosis and treatment. ( 8775095 )
1995
39
Systemic lupus erythematosus and chronic intestinal pseudoobstruction. ( 8474080 )
1993
40
Chronic intestinal pseudoobstruction in a patient with heart-lung transplant. Therapeutic effect of leuprolide acetate. ( 1330462 )
1992
41
Paraneoplastic chronic intestinal pseudoobstruction as a rare complication of bronchial carcinoid. ( 1644319 )
1992
42
Chronic intestinal pseudoobstruction with myopathy and ophthalmoplegia. A muscular biochemical study of a mitochondrial disorder. ( 1735370 )
1992
43
Cisapride in children with chronic intestinal pseudoobstruction. An acute, double-blind, crossover, placebo-controlled trial. ( 1955122 )
1991
44
Domperidone in chronic intestinal pseudoobstruction. ( 2394345 )
1990
45
Chronic intestinal pseudoobstruction and ophthalmoplegia in a patient with mitochondrial myopathy. ( 3371723 )
1988
46
Neuronal dysplasia and chronic intestinal pseudoobstruction: rectal biopsy as a possible aid to diagnosis. ( 3817401 )
1987
47
Impaired transit of chyme in chronic intestinal pseudoobstruction. Correction by cisapride. ( 3525315 )
1986
48
Chronic intestinal pseudoobstruction in young children. ( 3710082 )
1986
49
Chronic intestinal pseudoobstruction as a complication of Duchenne's muscular dystrophy. ( 3753595 )
1986
50
Chronic intestinal pseudoobstruction as a possible sequel to encephalitis. ( 3947424 )
1986

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

Expression for Chronic Intestinal Pseudoobstruction

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

Pathways for Chronic Intestinal Pseudoobstruction

Pathways related to Chronic Intestinal Pseudoobstruction according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.44 ACTG2 DES
2
Show member pathways
11.03 ACTG2 DES

GO Terms for Chronic Intestinal Pseudoobstruction

Cellular components related to Chronic Intestinal Pseudoobstruction according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 8.62 RAD21 SOX10

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

# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 8.62 ACTG2 DES

Molecular functions related to Chronic Intestinal Pseudoobstruction according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 8.32 SOX10

Sources for Chronic Intestinal Pseudoobstruction

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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