CIPO
MCID: CHR557
MIFTS: 42

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 52 58 29 6
Chronic Intestinal Pseudo-Obstruction 54 71
Cipo 52 58

Characteristics:

Orphanet epidemiological data:

58
chronic intestinal pseudoobstruction
Age of onset: All ages;

Classifications:

Orphanet: 58  
Rare gastroenterological diseases


External Ids:

ICD10 via Orphanet 33 K59.8
UMLS via Orphanet 72 C0238062
Orphanet 58 ORPHA2978
UMLS 71 C0238062

Summaries for Chronic Intestinal Pseudoobstruction

NIH Rare Diseases : 52 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 visceral myopathy and intestinal pseudo-obstruction. An important gene associated with Chronic Intestinal Pseudoobstruction is ACTG2 (Actin Gamma 2, Smooth Muscle), and among its related pathways/superpathways are Cardiac conduction and EPHA forward signaling. The drugs Prucalopride and Rifaximin have been mentioned in the context of this disorder. Affiliated tissues include colon, thyroid and lung, 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 197)
# Related Disease Score Top Affiliating Genes
1 visceral myopathy 32.4 MYH11 ACTG2
2 intestinal pseudo-obstruction 29.1 SOX10 RAD21 MYH11 ACTG2
3 microcolon 29.0 MYH11 DES ACTG2
4 megacystis-microcolon-intestinal hypoperistalsis syndrome 29.0 MYH11 DES ACTG2
5 mungan syndrome 11.4
6 actg2-related disorders 11.4
7 chronic atrial and intestinal dysrhythmia 11.2
8 myopathy 10.5
9 intestinal obstruction 10.4
10 hirschsprung disease 1 10.4
11 diarrhea 10.4
12 volvulus of midgut 10.3
13 short bowel syndrome 10.3
14 peritonitis 10.3
15 mitochondrial neurogastrointestinal encephalomyopathy 10.3
16 constipation 10.3
17 systemic scleroderma 10.3
18 dysphagia 10.3
19 enterocolitis 10.2
20 branchiootic syndrome 1 10.2
21 gastrointestinal system disease 10.2
22 mitochondrial disorders 10.2
23 autonomic dysfunction 10.2
24 chronic pain 10.2
25 chronic intestinal failure 10.2
26 scleroderma, familial progressive 10.2
27 kearns-sayre syndrome 10.2
28 orthostatic intolerance 10.2
29 gastroparesis 10.2
30 connective tissue disease 10.2
31 mitochondrial myopathy 10.2
32 ileus 10.2
33 achalasia 10.2
34 hypoganglionosis 10.2
35 esophagitis 10.1
36 peptic esophagitis 10.1
37 intussusception 10.1
38 small cell cancer of the lung 10.1
39 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 10.1
40 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 10.1
41 meconium ileus 10.1
42 lymphoproliferative syndrome 10.1
43 respiratory failure 10.1
44 acute cystitis 10.1
45 cholecystitis 10.1
46 gastroenteritis 10.1
47 lactic acidosis 10.1
48 peripheral nervous system disease 10.1
49 mitochondrial metabolism disease 10.1
50 paralytic ileus 10.1

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:

58 31 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of nervous system morphology 58 31 frequent (33%) Frequent (79-30%) HP:0012639
2 intestinal malrotation 58 31 frequent (33%) Frequent (79-30%) HP:0002566
3 pyloric stenosis 58 31 frequent (33%) Frequent (79-30%) HP:0002021
4 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001643
5 abnormal platelet morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0011875
6 abnormal intestine morphology 58 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 Reduced mammosphere formation GR00396-S 8.92 ACTG2 DES NDE1 RAD21

Drugs & Therapeutics for Chronic Intestinal Pseudoobstruction

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

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prucalopride Approved Phase 2 179474-81-8
2
Rifaximin Approved, Investigational Phase 2 80621-81-4 6436173 46783403
3 Gastrointestinal Agents Phase 2
4 Anti-Bacterial Agents Phase 2
5 Anti-Infective Agents Phase 2
6
Metronidazole Approved 443-48-1 4173
7 Pharmaceutical Solutions

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Double-Blind, Placebo-Controlled, Cross-Over, Multiple (n=1) Trial to Evaluate the Effects of R093877 in Patients With 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 Rifaximin for Patients With Chronic Intestinal Pseudo-obstruction: a Single Center, Randomized, Placebo Controlled, Double-blind Phase 2 Trial Recruiting NCT04118699 Phase 2 Rifaximin oral tablet;Placebo oral tablet
3 Post-Hoc Analysis of Dynamic Magnetic Resonance Sequences to Establish Descriptive Metrics for Small Bowel Motility in Vivo Unknown status NCT02754869
4 Efficacy and Safety of Fecal Microbiota Transplantation in Treatment of Chronic Intestinal Pseudo-obstruction: a Preliminary Study Completed NCT02731183
5 A Case-control Study of the Gastrointestinal Response to a Liquid Test Meal in Chronic Intestinal Pseudo-obstruction, Using Magnetic Resonance Imaging Not yet recruiting NCT04193735
6 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:

# Genetic test Affiliating Genes
1 Chronic Intestinal Pseudoobstruction 29

Anatomical Context for Chronic Intestinal Pseudoobstruction

MalaCards organs/tissues related to Chronic Intestinal Pseudoobstruction:

40
Colon, Thyroid, Lung, Smooth Muscle, Testes, Small Intestine, Liver

Publications for Chronic Intestinal Pseudoobstruction

Articles related to Chronic Intestinal Pseudoobstruction:

(show top 50) (show all 244)
# Title Authors PMID Year
1
Peripheral neuropathy with hypomyelination, chronic intestinal pseudo-obstruction and deafness: a developmental "neural crest syndrome" related to a SOX10 mutation. 54 61
11026454 2000
2
Dlx1/2 mice have abnormal enteric nervous system function. 61
32017713 2020
3
Management of the Patient with Chronic Intestinal Pseudo-Obstruction and Intestinal Failure. 61
31668180 2019
4
Chronic intestinal pseudo-obstruction in a patient with metastatic gastro-oesophageal junction cancer receiving treatment with pembrolizumab. 61
31843780 2019
5
Chronic intestinal pseudo-obstruction with dilated biliary tract as a spectrum of stiff person syndrome in a nondiabetic patient. 61
31789305 2019
6
Pediatric Intestinal Pseudo-obstruction in the Era of Genetic Sequencing. 61
31848803 2019
7
The expanding phenotypes of cohesinopathies: one ring to rule them all! 61
31516082 2019
8
Identification of a dominant MYH11 causal variant in chronic intestinal pseudo-obstruction: Results of whole-exome sequencing. 61
31389005 2019
9
Gut epithelial and vascular barrier abnormalities in patients with chronic intestinal pseudo-obstruction. 61
31144425 2019
10
Twenty Years of Gut Transplantation for Chronic Intestinal Pseudo-obstruction: Technical Innovation, Long-term Outcome, Quality of Life, and Disease Recurrence. 61
31274659 2019
11
Chronic intestinal pseudo-obstruction with pneumatosis cystoides intestinalis in a patient with systemic sclerosis: A case report. 61
31045831 2019
12
Chronic intestinal pseudo-obstruction due to al amyloidosis: a case report and literature review. 61
30232705 2019
13
Histological characteristics of eosinophilic myenteric ganglionitis: an under-recognised cause of chronic intestinal pseudo-obstruction. 61
30607555 2019
14
ACTG2-Associated Visceral Myopathy With Chronic Intestinal Pseudoobstruction, Intestinal Malrotation, Hypertrophic Pyloric Stenosis, Choledochal Cyst, and a Novel Missense Mutation. 61
30019982 2019
15
Chronic Intestinal Pseudo-Obstruction and Lymphoproliferative Syndrome as a Novel Phenotype Associated With Tetratricopeptide Repeat Domain 7A Deficiency. 61
31787977 2019
16
Colonic Pseudo-obstruction With Transition Zone: A Peculiar Eastern Severe Dysmotility. 61
30646485 2019
17
Mansoa alliacea extract presents antinociceptive effect in a chronic inflammatory pain model in mice through opioid mechanisms. 61
30496767 2019
18
Functional neuromuscular impairment in severe intestinal dysmotility. 61
30178519 2018
19
The chronic intestinal pseudo-obstruction subtype has prognostic significance in patients with severe gastrointestinal dysmotility related intestinal failure. 61
30290972 2018
20
Anti-ganglionic AChR antibodies in Japanese patients with motility disorders. 61
29766276 2018
21
Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo-obstruction. 61
29781137 2018
22
Expression of RAD21 immunoreactivity in myenteric neurons of the human and mouse small intestine. 61
30069982 2018
23
Causes and prognosis of chronic intestinal pseudo-obstruction in 48 subjects: A 10-year retrospective case series. 61
30200110 2018
24
Identification of Biomphalaria sp. and other freshwater snails in the large-scale water transposition project in the Northeast of Brazil. 61
30133601 2018
25
A case of prenatal chronic intestinal pseudo-obstruction associated with Leigh syndrome. 61
30147885 2018
26
Pathophysiology, Diagnosis, and Management of Chronic Intestinal Pseudo-Obstruction. 61
29877952 2018
27
Paediatric Intestinal Pseudo-obstruction: Evidence and Consensus-based Recommendations From an ESPGHAN-Led Expert Group. 61
29570554 2018
28
A Rare Case of Adult-Onset Rectosigmoid Hypoganglionosis. 61
29755106 2018
29
Chronic Intestinal Pseudo-Obstruction in Systemic Sclerosis: An Uncommon Presentation. 61
30057521 2018
30
Loss of alpha-smooth muscle actin expression associated with chronic intestinal pseudo-obstruction in a young Miniature Bull Terrier. 61
29690886 2018
31
Nutritional Interventions in Chronic Intestinal Pseudoobstruction. 61
29413013 2018
32
Myotonic dystrophy type 1 and pseudo-obstruction in a child with smooth muscle α-actin deficiency and eosinophilic myenteric plexitis. 61
29749332 2018
33
Oesophageal motor function in chronic intestinal idiopathic pseudo-obstruction: A study with high-resolution manometry. 61
29089268 2018
34
Diagnostic use of endoscopic full-thickness wall resection (eFTR)-a novel minimally invasive technique for colonic tissue sampling in patients with severe gastrointestinal motility disorders. 61
28681569 2018
35
A Report of Chronic Intestinal Pseudo-obstruction Related to Systemic Lupus Erythematosus. 61
30519633 2018
36
Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathies. 61
29024177 2018
37
Chronic intestinal pseudo-obstruction: Progress in management? 61
29143474 2017
38
Efficacy of percutaneous endoscopic gastro-jejunostomy (PEG-J) decompression therapy for patients with chronic intestinal pseudo-obstruction (CIPO). 61
28631871 2017
39
Chronic intestinal pseudo-obstruction in a child with Treacher Collins syndrome. 61
28927774 2017
40
Chronic Intestinal Pseudo-obstruction and Orthostatic Hypotension Associated with Small Cell Lung Cancer that Improved with Tumor Reduction after Chemoradiotherapy. 61
28883237 2017
41
Pregnancy is possible on long-term home parenteral nutrition in patients with chronic intestinal failure: Results of a long term retrospective observational study. 61
27624996 2017
42
Clinical importance of cine-MRI assessment of small bowel motility in patients with chronic intestinal pseudo-obstruction: a retrospective study of 33 patients. 61
27549243 2017
43
Unusual Histology of Eosinophilic Myenteric Ganglionitis: A Case Report. 61
28372348 2017
44
Pharmacotherapy for pediatric chronic intestinal pseudo-obstruction: Nationwide survey in Japan. 61
27862707 2017
45
Serial Frozen Fecal Microbiota Transplantation in the Treatment of Chronic Intestinal Pseudo-obstruction: A Preliminary Study. 61
27840368 2017
46
Chronic Intestinal Pseudo-obstruction: Clinical and Manometric Characteristics in the Chilean Population. 61
27669829 2017
47
Urinary glutamine/glutamate ratio as a potential biomarker of pediatric chronic intestinal pseudo-obstruction. 61
28351420 2017
48
A Novel Mutation in ACTG2 Gene in Mother with Chronic Intestinal Pseudoobstruction and Fetus with Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. 61
29387497 2017
49
Chronic intestinal pseudo-obstruction in children and adults: diagnosis and therapeutic options. 61
27683196 2017
50
Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes. 61
27481187 2016

Variations for Chronic Intestinal Pseudoobstruction

ClinVar genetic disease variations for Chronic Intestinal Pseudoobstruction:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ACTG2 NM_001615.4(ACTG2):c.770G>A (p.Arg257His)SNV Pathogenic 208792 rs797044959 2:74141963-74141963 2:73914836-73914836
2 ACTG2 NM_001615.4(ACTG2):c.113G>A (p.Arg38His)SNV Pathogenic 217521 rs869312168 2:74128551-74128551 2:73901424-73901424
3 ACTG2 NM_001615.4(ACTG2):c.442C>A (p.Arg148Ser)SNV Pathogenic 132797 rs587777383 2:74136257-74136257 2:73909130-73909130
4 ACTG2 NM_001615.4(ACTG2):c.119G>A (p.Arg40His)SNV Pathogenic 132802 rs587777386 2:74128557-74128557 2:73901430-73901430
5 ACTG2 NM_001615.4(ACTG2):c.769C>T (p.Arg257Cys)SNV Pathogenic 132803 rs587777387 2:74141962-74141962 2:73914835-73914835
6 MYH11 NM_002474.3(MYH11):c.5787-4707deldeletion Uncertain significance 627645 rs747392139 16:15802687-15802687 16:15708830-15708830

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

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

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.26 RAD21 NDE1 DES ACTG2
2 chromosome, centromeric region GO:0000775 9.16 RAD21 NDE1
3 myosin filament GO:0032982 8.62 MYH11 ACTG2

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

# Name GO ID Score Top Affiliating Genes
1 chromosome segregation GO:0007059 8.96 RAD21 NDE1
2 muscle contraction GO:0006936 8.8 MYH11 DES ACTG2

Sources for Chronic Intestinal Pseudoobstruction

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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