IPO
MCID: INT072
MIFTS: 54

Intestinal Pseudo-Obstruction (IPO) malady

Genetic diseases, Rare diseases, Gastrointestinal diseases, Neuronal diseases, Fetal diseases categories
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Summaries for Intestinal Pseudo-Obstruction

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NIH Rare Diseases:42 Intestinal pseudo-obstruction is a digestive disorder in which the intestinal walls are unable to contract normally (called hypomotility); the condition resembles a true obstruction, but no actual blockage exists. signs and symptoms may include abdominal pain; vomiting; diarrhea; constipation; malabsorption of nutrients leading to weight loss and/or failure to thrive; and other symptoms. it may be classified as neuropathic (from lack of nerve function) or myopathic (from lack of muscle function), depending on the source of the abnormality. the condition is sometimes inherited (in an x-linked recessive or autosomal dominant manner) and may be caused by mutations in the flna gene; it may also be acquired after certain illnesses. the goal of treatment is to provide relief from symptoms and ensure that nutritional support is adequate. last updated: 5/10/2011

MalaCards based summary: Intestinal Pseudo-Obstruction, also known as congenital short bowel syndrome, is related to short bowel syndrome and acute pancreatitis. An important gene associated with Intestinal Pseudo-Obstruction is FLNA (filamin A, alpha), and among its related pathways is TCR signaling in naive CD4+ T cells. The compounds pyridostigmine and pirenzepine have been mentioned in the context of this disorder. Affiliated tissues include small intestine, liver and smooth muscle, and related mouse phenotypes are nervous system and digestive/alimentary.

Genetics Home Reference:21 Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (neurogenic).

Wikipedia:65 Intestinal Pseudo-obstruction is a clinical syndrome caused by severe impairment in the ability of the... more...

Descriptions from OMIM:46 615237,300048

Aliases & Classifications for Intestinal Pseudo-Obstruction

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Intestinal Pseudo-Obstruction, Aliases & Descriptions:

Name: Intestinal Pseudo-Obstruction 8 42 21 10 44 62
Congenital Short Bowel Syndrome 21 46 62
Chronic Idiopathic Intestinal Pseudo-Obstruction 21 62
Pseudointestinal Obstruction Syndrome 21 62
Pseudoobstructive Syndrome 21 62
Hollow Visceral Myopathy 42 62
Enteric Neuropathy 21 62
 
Paralytic Ileus 21 62
Ciip 21 62
Pseudo-Obstruction of Gastrointestinal Tract 62
Pseudo-Obstruction of Intestine 8
Intestinal Pseudoobstruction 42
Intestine Pseudoobstruction 8
Ipo 21


Classifications:



External Ids:

Disease Ontology8 DOID:3878
MeSH34 D007418
SNOMED-CT57 235825006
NCIt39 C34733

Related Diseases for Intestinal Pseudo-Obstruction

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Diseases in the Intestinal Pseudo-Obstruction family:

Intestinal Obstruction

Diseases related to Intestinal Pseudo-Obstruction via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 165)
idRelated DiseaseScoreTop Affiliating Genes
1short bowel syndrome31.6SST
2acute pancreatitis30.4SST, SPINK1
3pancreatitis30.3SST, SPINK1
4paralytic ileus11.3
5systemic lupus erythematosus10.8
6lupus erythematosus10.8
7myopathy10.7
8neuropathy10.6
9amyloidosis10.6
10neuronitis10.6
11thymoma10.6
12intestinal pseudoobstruction neuronal chronic idiopathic x-linked10.6
13natal teeth, intestinal pseudoobstruction and patent ductus10.6
14visceral myopathy10.6
15peritonitis10.5
16appendicitis10.5
17myasthenia gravis10.5
18strongyloidiasis10.5
19hirschsprung's disease10.4SOX10
20kawasaki disease10.4
21myotonic dystrophy10.4
22polymyositis10.4
23ileus10.4
24hypothyroidism10.4
25sensorineural hearing loss10.3SOX10
26crohn's disease10.3
27multiple sclerosis10.3
28patent ductus arteriosus10.3
29pneumatosis cystoides intestinalis10.3
30gastroparesis10.3
31small cell carcinoma10.3
32constipation10.3
33diarrhea10.3
34ophthalmoplegia10.3
35scleroderma10.3
36pheochromocytoma10.3
37mitochondrial neurogastrointestinal encephalopathy disease10.3
38autonomic dysfunction10.3
39schizophrenia10.3
40portal vein thrombosis10.3
41ganglioneuroblastoma10.3
42familial visceral myopathy with external ophthalmoplegia10.3
43visceral neuropathy familial10.3
44hydrocephalus with congenital idiopathic intestinal pseudoobstruction10.3
45myopathic intestinal pseudoobstruction10.3
46unclassified intestinal pseudoobstruction10.3
47neurilemmoma10.2ACHE, SOX10
48alcohol abuse10.2
49hemophagocytic lymphohistiocytosis10.2
50hepatitis10.2

Graphical network of the top 20 diseases related to Intestinal Pseudo-Obstruction:



Diseases related to intestinal pseudo-obstruction

Symptoms for Intestinal Pseudo-Obstruction

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Clinical features from OMIM:

615237,300048

Drugs & Therapeutics for Intestinal Pseudo-Obstruction

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Drug clinical trials:

Search ClinicalTrials for Intestinal Pseudo-Obstruction

Search NIH Clinical Center for Intestinal Pseudo-Obstruction

Genetic Tests for Intestinal Pseudo-Obstruction

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Anatomical Context for Intestinal Pseudo-Obstruction

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MalaCards organs/tissues related to Intestinal Pseudo-Obstruction:

32
Small intestine, Liver, Smooth muscle, Colon, Lung, Lymph node

Animal Models for Intestinal Pseudo-Obstruction or affiliated genes

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MGI Mouse Phenotypes related to Intestinal Pseudo-Obstruction:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036318.1ACHE, SST, FLNA, SOX10, B2M
2MP:00053818.1SST, FLNA, SOX10, B2M, SPINK1
3MP:00053787.5SPINK1, B2M, SOX10, FLNA, SST, ACHE
4MP:00053767.3SPINK1, B2M, SOX10, FLNA, SST, ACHE

Publications for Intestinal Pseudo-Obstruction

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Articles related to Intestinal Pseudo-Obstruction:

(show top 50)    (show all 415)
idTitleAuthorsYear
1
Advancement in the clinical management of intestinal pseudo-obstruction. (25020006)
2014
2
Retinoblastoma protein prevents enteric nervous system defects and intestinal pseudo-obstruction. (24177421)
2013
3
Transgastric long tube placement following percutaneous endoscopic gastrostomy for severe chronic intestinal pseudo-obstruction related to systemic sclerosis. (24252025)
2013
4
Intestinal amyloidosis with intractable diarrhea and intestinal pseudo-obstruction. (23018539)
2012
5
Retraction of article. Eugen Florin Georgescu, Ion Vasile, Ana Claudia Georgescu. Intestinal pseudo-obstruction--a rare condition with heterogeneous etiology and unpredictable outcome. A case report. J Gastrointestin Liver Dis. March 2008; 17(1): 77-80. (22720315)
2012
6
Raising awareness about chronic intestinal pseudo-obstruction (CIPO): a case report showing CIPO as initial manifestation of atypical seronegative systemic sclerosis. (23059804)
2012
7
Prognostic yield of esophageal manometry in chronic intestinal pseudo-obstruction: a retrospective cohort of 116 adult patients. (22762287)
2012
8
An interesting case of intestinal pseudo-obstruction: MNGIE. (21922881)
2011
9
Major gastrointestinal manifestations in lupus patients in Asia: lupus enteritis, intestinal pseudo-obstruction, and protein-losing gastroenteropathy. (20947549)
2010
10
Chronic intestinal pseudo-obstruction related to viral infections. (20172270)
2010
11
Frequency of mitochondrial defects in patients with chronic intestinal pseudo-obstruction. (19344718)
2009
12
Intestinal pseudo-obstruction associated with polymyositis successfully treated with somatostatin analog]. (18323156)
2008
13
Mitochondrial DNA A3243G mutation involved in familial diabetes, chronic intestinal pseudo-obstruction and recurrent pancreatitis. (18955007)
2008
14
Chronic intestinal pseudo-obstruction caused by an intestinal inflammatory myopathy: case report and review of the literature. (18004985)
2008
15
Fibrosing gastrointestinal leiomyositis as a cause of chronic intestinal pseudo-obstruction in an 8-month-old dog. (17197634)
2007
16
Chronic intestinal pseudo-obstruction due to buserelin-induced formation of anti-GnRH antibodies. (17241858)
2007
17
Intestinal pseudo-obstruction and neuroleptic malignant syndrome in a chronically constipated parkinsonian patient. (16618352)
2006
18
Inhibition of protein kinase A in murine enteric neurons causes lethal intestinal pseudo-obstruction. (16329126)
2006
19
Semiquantitative assessment of the intestinal motility in chronic intestinal pseudo-obstruction in systemic sclerosis and mixed connective tissue disease by Sitzmarks capsule. (17039319)
2006
20
Acute on chronic intestinal pseudo-obstruction as a cause of death in a previously healthy twenty-year-old male. (16614983)
2006
21
Does bcl2 immunostaining really help with pathological evaluation of intestinal pseudo-obstruction? (16861987)
2006
22
Caecal impaction and chronic intestinal pseudo-obstruction in a dog. (15703010)
2005
23
Multivisceral transplantation for pediatric intestinal pseudo-obstruction: single center's experience of 16 cases. (15050142)
2004
24
Prokinetics in the treatment of acute intestinal pseudo-obstruction. (15057661)
2004
25
Genetic background modifies intestinal pseudo-obstruction and the expression of a reporter gene in Hox11L1-/- mice. (14598259)
2003
26
SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism. (12189494)
2002
27
Rare presentation of intestinal amyloidosis with acute intestinal pseudo-obstruction and perforation. (12401832)
2002
28
Chronic intestinal pseudo-obstruction in systemic lupus erythematosus due to intestinal smooth muscle myopathy. (10981652)
2000
29
Intestinal pseudo-obstruction due to neurofibromatosis responding to cisapride. (10812823)
2000
30
Chronic intestinal pseudo-obstruction: treatment and long term follow up of 44 patients. (10373127)
1999
31
Eosinophilic enterocolitis and visceral neuropathy with chronic intestinal pseudo-obstruction. (10372941)
1999
32
Myasthenia gravis, thymoma, intestinal pseudo-obstruction, and neuronal nicotinic acetylcholine receptor antibody. (10514242)
1999
33
Autonomic dysfunction in chronic intestinal pseudo-obstruction. (9869551)
1998
34
Desmin-rich smooth muscle bundles in chronic intestinal pseudo-obstruction. (9327377)
1997
35
Clinical characteristics of chronic idiopathic intestinal pseudo-obstruction in adults. (9414977)
1997
36
Manometric evaluation of gastrointestinal motility in children with chronic intestinal pseudo-obstruction syndrome. (8938348)
1996
37
Pancreatic somatostatinoma presenting with chronic intestinal pseudo-obstruction syndrome. (17912215)
1996
38
Small bowel resection for relief of chronic intestinal pseudo-obstruction. (7541935)
1995
39
Acute intestinal pseudo-obstruction due to malignant thymoma. (8266165)
1993
40
Erythromycin in chronic intestinal pseudo-obstruction. (2362109)
1990
41
Chronic intestinal pseudo-obstruction: progress and problems. (2303965)
1990
42
Chronic intestinal pseudo-obstruction: diagnosis and treatment. (2642997)
1989
43
Intestinal pseudo-obstruction due to dialysis amyloidosis. (2612073)
1989
44
Idiopathic intestinal pseudo-obstruction and contaminated small bowel syndrome--treatment with metronidazole, ileostomy, and indomethacin. (6688501)
1983
45
Intestinal pseudo-obstruction as the presenting manifestation of small-cell carcinoma of the lung. A paraneoplastic neuropathy of the gastrointestinal tract. (6297344)
1983
46
Radiation-induced recurrent intestinal pseudo-obstruction. (6895001)
1981
47
Chronic intestinal pseudo-obstruction. A report of 27 cases and review of the literature. (6894476)
1981
48
Idiopathic intestinal pseudo-obstruction: a familial visceral neuropathy. (7438508)
1980
49
Intestinal pseudo-obstruction in alcohol abuse: report of two cases. (519478)
1979
50
Myxedema ileus. A form of intestinal pseudo-obstruction. (1242154)
1975

Variations for Intestinal Pseudo-Obstruction

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UniProtKB/Swiss-Prot genetic disease variations for Intestinal Pseudo-Obstruction:

64
id Symbol AA change Variation ID SNP ID
1CLMPp.Val124AspVAR_069713

Clinvar genetic disease variations for Intestinal Pseudo-Obstruction:

6
id Gene Name Type Significance SNP ID Assembly Location
1FLNANM_001110556.1(FLNA): c.65_66delAC (p.Thr23Alafs)deletionPathogenicrs80338840GRCh37Chr X, 153599548: 153599549
2CLMPNM_024769.2(CLMP): c.230delA (p.Glu77Glyfs)deletionPathogenicGRCh37Chr 11, 122955378: 122955378
3CLMPNM_024769.2(CLMP): c.821G> A (p.Arg274Gln)single nucleotide variantPathogenicGRCh37Chr 11, 122945410: 122945410
4CLMPNM_024769.2(CLMP): c.664C> T (p.Arg222Ter)single nucleotide variantPathogenicGRCh37Chr 11, 122953808: 122953808
5CLMPNM_024769.2(CLMP): c.371T> A (p.Val124Asp)single nucleotide variantPathogenicGRCh37Chr 11, 122955237: 122955237

Expression for genes affiliated with Intestinal Pseudo-Obstruction

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Expression patterns in normal tissues for genes affiliated with Intestinal Pseudo-Obstruction

Search GEO for disease gene expression data for Intestinal Pseudo-Obstruction.

Pathways for genes affiliated with Intestinal Pseudo-Obstruction

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Pathways related to Intestinal Pseudo-Obstruction according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
TCR signaling in naive CD8+ T cells37
9.5FLNA, B2M

Compounds for genes affiliated with Intestinal Pseudo-Obstruction

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Compounds related to Intestinal Pseudo-Obstruction according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1pyridostigmine44 1110.7ACHE, SST
2pirenzepine44 28 1111.7ACHE, SST
3nitroglycerin44 1110.6B2M, SST
4atropine44 28 1111.6ACHE, SST
5captopril44 61 50 28 1113.5SST, B2M
6carboplatin44 50 1111.5SST, SOX10
7fluoride449.5B2M, SPINK1
8nifedipine44 28 50 1112.4SST, B2M
9dopamine44 28 24 1112.3FLNA, SST, ACHE
10sodium nitroprusside449.1SST, B2M
11serine448.5SPINK1, B2M, FLNA, ACHE

GO Terms for genes affiliated with Intestinal Pseudo-Obstruction

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Cellular components related to Intestinal Pseudo-Obstruction according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:0055768.0ACHE, SST, FLNA, B2M, SPINK1

Products for genes affiliated with Intestinal Pseudo-Obstruction

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Sources for Intestinal Pseudo-Obstruction

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet