Details of Disease

General Information of Disease (ID: DISR68AN)

Disease Name Chronic intestinal pseudoobstruction
Synonyms chronic intestinal pseudo-obstruction; cipo; Chronic Intestinal Pseudo-Obstruction; intestinal pseudo-obstruction, chronic
Definition
Chronic intestinal pseudo-obstruction (CIPO) is a rare gastrointestinal motility disorder characterized by recurring episodes resembling mechanical obstruction in the absence of organic, systemic, or metabolic disorders, and without any physical obstruction being detected by X-ray or during surgery. CIPO develops predominantly in children and may be present at birth.
Disease Hierarchy
:
DISBI73X: Intestinal motility disease
DISR68AN: Chronic intestinal pseudoobstruction
Disease Identifiers
MONDO ID
MONDO_0017574
UMLS CUI
C0238062
MedGen ID
536759
Orphanet ID
2978
SNOMED CT ID
235828008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CLMP OTU7C3GQ Limited Genetic Variation [1]
TLX2 OTPFAUM8 Limited Biomarker [2]
ACTG2 OTRDWUO0 Strong Genetic Variation [3]
RAD21 OTQS84ZF Strong Genetic Variation [4]
TTC7A OTDHLPQM Strong Biomarker [5]
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References

1 Two new mutations of the CLMP gene identified in a newborn presenting congenital short-bowel syndrome.Clin Res Hepatol Gastroenterol. 2016 Dec;40(6):e65-e67. doi: 10.1016/j.clinre.2015.12.018. Epub 2016 Oct 4.
2 Evaluation of Hox11L1 in the fmc/fmc rat model of chronic intestinal pseudo-obstruction.J Pediatr Surg. 2005 Nov;40(11):1760-5. doi: 10.1016/j.jpedsurg.2005.07.010.
3 Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo-obstruction.Neurogastroenterol Motil. 2018 Sep;30(9):e13371. doi: 10.1111/nmo.13371. Epub 2018 May 21.
4 Expression of RAD21 immunoreactivity in myenteric neurons of the human and mouse small intestine.Neurogastroenterol Motil. 2018 Sep;30(9):e13429. doi: 10.1111/nmo.13429. Epub 2018 Aug 1.
5 Chronic Intestinal Pseudo-Obstruction and Lymphoproliferative Syndrome as a Novel Phenotype Associated With Tetratricopeptide Repeat Domain 7A Deficiency.Front Immunol. 2019 Nov 7;10:2592. doi: 10.3389/fimmu.2019.02592. eCollection 2019.