MCID: CHR557
MIFTS: 39

Chronic Intestinal Pseudoobstruction

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, smooth muscle and colon, 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 68)
# 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 muscle disorders 10.2
10 crohn's disease 10.1
11 intestinal volvulus 10.1
12 pure autonomic failure 10.1
13 achalasia 10.1
14 acrocephalopolysyndactyly type iii 10.0
15 systemic lupus erythematosus 10.0
16 rheumatoid arthritis 10.0
17 hypoparathyroidism-retardation-dysmorphism syndrome 10.0
18 bile duct cysts 10.0
19 meconium ileus 10.0
20 arthritis 10.0
21 fetal alcohol syndrome 10.0
22 alcohol-related birth defect 10.0
23 cardiac arrest 10.0
24 dermatomyositis 10.0
25 autonomic neuropathy 10.0
26 hypertrophic pyloric stenosis 10.0
27 pyloric stenosis 10.0
28 connective tissue disease 10.0
29 mitochondrial myopathy 10.0
30 intestinal obstruction 10.0
31 neuropathy 10.0
32 lupus erythematosus 10.0
33 amyloidosis 10.0
34 encephalitis 10.0
35 muscular dystrophy 10.0
36 autoimmune disease 10.0
37 hirschsprung disease 1 10.0
38 treacher collins syndrome 1 10.0
39 oculopharyngodistal myopathy 10.0
40 sarcoidosis 1 10.0
41 small cell cancer of the lung 10.0
42 lung cancer 10.0
43 ellis-van creveld syndrome 10.0
44 enterocolitis 10.0
45 leigh syndrome 10.0
46 thymoma, familial 10.0
47 neuronal intranuclear inclusion disease 10.0
48 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 10.0
49 schaaf-yang syndrome 10.0
50 hemophagocytic lymphohistiocytosis 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, Smooth Muscle, Colon, Liver, Heart, Small Intestine

Publications for Chronic Intestinal Pseudoobstruction

Articles related to Chronic Intestinal Pseudoobstruction:

(show top 50) (show all 262)
# Title Authors Year
1
Chronic intestinal pseudo-obstruction due to al amyloidosis: a case report and literature review. ( 30232705 )
2019
2
ACTG2-Associated Visceral Myopathy With Chronic Intestinal Pseudoobstruction, Intestinal Malrotation, Hypertrophic Pyloric Stenosis, Choledochal Cyst, and a Novel Missense Mutation. ( 30019982 )
2019
3
Histological characteristics of eosinophilic myenteric ganglionitis: an under-recognised cause of chronic intestinal pseudo-obstruction. ( 30607555 )
2019
4
Chronic intestinal pseudo-obstruction with pneumatosis cystoides intestinalis in a patient with systemic sclerosis: A case report. ( 31045831 )
2019
5
Nutritional Interventions in Chronic Intestinal Pseudoobstruction. ( 29413013 )
2018
6
Multimodal Surgical Approach for Adult Patients With Chronic Intestinal Pseudo-Obstruction: Clinical and Psychosocial Long-term Outcomes. ( 29407314 )
2018
7
Chronic Intestinal Pseudo-obstruction. ( 29487492 )
2018
8
The Use of Pyridostigmine in a Child With Chronic Intestinal Pseudo-Obstruction. ( 29610160 )
2018
9
Chronic intestinal pseudo-obstruction syndrome and gastrointestinal malrotation in an infantwith schaaf-yang syndrome - Expanding the phenotypic spectrum. ( 29660409 )
2018
10
Loss of alpha-smooth muscle actin expression associated with chronic intestinal pseudo-obstruction in a young Miniature Bull Terrier. ( 29690886 )
2018
11
Systemic sclerosis and sarcoidosis: a rare case of chronic intestinal pseudo-obstruction. ( 29699402 )
2018
12
Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo-obstruction. ( 29781137 )
2018
13
Pathophysiology, Diagnosis, and Management of Chronic Intestinal Pseudo-Obstruction. ( 29877952 )
2018
14
Chronic Intestinal Pseudo-Obstruction in Systemic Sclerosis: An Uncommon Presentation. ( 30057521 )
2018
15
Chronic intestinal pseudo-obstruction due to Strongyloides stercoralis. ( 30101070 )
2018
16
A case of prenatal chronic intestinal pseudo-obstruction associated with Leigh syndrome. ( 30147885 )
2018
17
Causes and prognosis of chronic intestinal pseudo-obstruction in 48 subjects: A 10-year retrospective case series. ( 30200110 )
2018
18
The chronic intestinal pseudo-obstruction subtype has prognostic significance in patients with severe gastrointestinal dysmotility related intestinal failure. ( 30290972 )
2018
19
A Report of Chronic Intestinal Pseudo-obstruction Related to Systemic Lupus Erythematosus. ( 30519633 )
2018
20
A Novel Mutation in ACTG2 Gene in Mother with Chronic Intestinal Pseudoobstruction and Fetus with Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. ( 29387497 )
2017
21
Chronic intestinal pseudo-obstruction in a child with Treacher Collins syndrome. ( 28927774 )
2017
22
Prenatal diagnosis of chronic intestinal pseudo-obstruction and paternal somatic mosaicism for the ACTG2 pathogenic variant. ( 29072330 )
2017
23
Chronic intestinal pseudo-obstruction: Progress in management? ( 29143474 )
2017
24
Clinical importance of cine-MRI assessment of small bowel motility in patients with chronic intestinal pseudo-obstruction: a retrospective study of 33 patients. ( 27549243 )
2017
25
Chronic Intestinal Pseudo-obstruction: Clinical and Manometric Characteristics in the Chilean Population. ( 27669829 )
2017
26
Chronic intestinal pseudo-obstruction in children and adults: diagnosis and therapeutic options. ( 27683196 )
2017
27
Serial Frozen Fecal Microbiota Transplantation in the Treatment of Chronic Intestinal Pseudo-obstruction: A Preliminary Study. ( 27840368 )
2017
28
Pharmacotherapy for pediatric chronic intestinal pseudo-obstruction: Nationwide survey in Japan. ( 27862707 )
2017
29
Urinary glutamine/glutamate ratio as a potential biomarker of pediatric chronic intestinal pseudo-obstruction. ( 28351420 )
2017
30
Chronic intestinal pseudo-obstruction. Did you search for lysosomal storage diseases? ( 28377888 )
2017
31
Diagnosis of Chronic Intestinal Pseudo-obstruction and Megacystis by Sequencing the ACTG2 Gene. ( 28422808 )
2017
32
Familial Pernicious Chronic Intestinal Pseudo-obstruction with a Mitochondrial DNA A3243G Mutation. ( 28458318 )
2017
33
Efficacy of percutaneous endoscopic gastro-jejunostomy (PEG-J) decompression therapy for patients with chronic intestinal pseudo-obstruction (CIPO). ( 28631871 )
2017
34
Chronic Intestinal Pseudo-obstruction and Orthostatic Hypotension Associated with Small Cell Lung Cancer that Improved with Tumor Reduction after Chemoradiotherapy. ( 28883237 )
2017
35
A Case of Dermatomyositis and Anti-EJ Autoantibody with Chronic Intestinal Pseudoobstruction Successfully Treated with Octreotide. ( 27885350 )
2016
36
Ellis-van Creveld syndrome associated with chronic intestinal pseudo-obstruction. ( 26818569 )
2016
37
Percutaneous endoscopic cecostomy (introducer method) in chronic intestinal pseudo-obstruction: Report of two cases and literature review. ( 26493622 )
2016
38
Intestinal Leiomyositis: A Cause of Chronic Intestinal Pseudo-Obstruction in 6 Dogs. ( 26608226 )
2016
39
Comparative quantitative assessment of global small bowel motility using magnetic resonance imaging in chronic intestinal pseudo-obstruction and healthy controls. ( 26661570 )
2016
40
Two Cases of Chronic Intestinal Pseudo-obstruction: A Comparison of Staining Characteristics of Enteric Visceral Myopathy With Hirschsprung Disease. ( 26808129 )
2016
41
Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction. ( 26813947 )
2016
42
Mitochondrial respiratory chain complex IV deficiency complicated with chronic intestinal pseudo-obstruction in a neonate. ( 27264907 )
2016
43
Chronic intestinal pseudo-obstruction in a child harboring a founder Hirschsprung RET mutation. ( 27273837 )
2016
44
Chronic Intestinal Pseudo-Obstruction. ( 27305875 )
2016
45
Utility of Octreotide in Advancing Enteral Feeds in Children with Chronic Intestinal Pseudo-Obstruction. ( 27520652 )
2016
46
Chronic intestinal pseudo-obstruction: An unusual presentation. ( 27852553 )
2016
47
Chronic intestinal pseudo-obstruction associated with enteric ganglionitis in a Persian cat. ( 28491428 )
2016
48
Chronic Intestinal Pseudo-Obstruction. ( 30454107 )
2016
49
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
50
Transgastric long tube placement following percutaneous endoscopic gastrostomy for severe chronic intestinal pseudo-obstruction related to systemic sclerosis. ( 24252025 )
2015

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
9 MYH11 NM_001040113.1: c.5819delC deletion Likely pathogenic GRCh38 Chromosome 16, 15708837: 15708837
10 MYH11 NM_001040113.1: c.5819delC deletion Likely pathogenic GRCh37 Chromosome 16, 15802687: 15802687

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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