{"Name":"Chronic intestinal pseudoobstruction","DiseaseID__c":"GARD:0012744","id":12744,"encodedName":"chronic-intestinal-pseudoobstruction","IsDeleted":false,"Disease_Name_Full__c":"Chronic intestinal pseudoobstruction","Xref_IDs__c":"235828008; C0238062; C192634; MEDGEN:536759; MONDO:0017574; ORPHA:2978","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0017574","Disease_Description__c":"A rare and heterogeneous gastroenterological clinical syndrome characterized by recurrent symptoms of intestinal obstruction with radiological features of dilated small or large intestine in absence of any mechanical occlusive lesion. Permanent alterations in neural, muscular, or mesenchymal structures of the intestinal wall or its extrinsic neural control, chronically impair tonic and propulsive motor functions in one or more segments of the gut.","GARD_Name__c":"Chronic intestinal pseudoobstruction","GARD_Synonym__c":"chronic intestinal pseudo-obstruction; cipo; intestinal pseudo-obstruction, chronic","Curated_Disease_Description_Source__c":"GARD:0012744","Curated_Disease_Description__c":"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 affecting the FLNA or ACTG2 gene. Before making the diagnosis other conditions with similar symptoms should be ruled out.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:2978","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017574","ORPHANET_ID__c":"ORPHA:2978","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de pseudoobstrucción intestinal crónica","Spanish_Description_Source__c":"ORPHA:2978","Spanish_Description__c":"La pseudo-obstrucción intestinal crónica (CIPO) es un trastorno poco común de la motilidad gastrointestinal caracterizado por episodios recurrentes similares a una obstrucción mecánica en ausencia de trastornos orgánicos, sistémicos o metabólicos, y sin ningún tipo de obstrucción física que se pueda detectar por rayos X o mediante cirugía. La CIPO se desarrolla predominantemente en niños, y puede estar presente desde su nacimiento.","Spanish_Disease_Name__c":"síndrome de pseudoobstrucción intestinal crónica","Spanish_GARD_Synonym__c":"síndrome cip; síndrome cipo; síndrome pic; síndrome poic","Category_Linearization__c":"ORPHA:97935","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"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 affecting the FLNA or ACTG2 gene. Before making the diagnosis other conditions with similar symptoms should be ruled out.","Curated_Disease_Description_Source__c":"GARD:0012744","GARD_Synonym__c":"chronic intestinal pseudo-obstruction; cipo; intestinal pseudo-obstruction, chronic","Name":"Chronic intestinal pseudoobstruction","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Guts UK!","Website__c":"https://gutscharity.org.uk/"},{"Account_Name__c":"Pull-thru Network","Website__c":"https://www.pullthrunetwork.org/"},{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"International Foundation for Functional Gastrointestinal Disorders","Website__c":"https://iffgd.org/"},{"Account_Name__c":"Association of Gastrointestinal Motility Disorders","Website__c":"https://www.agmdhope.org/"},{"Account_Name__c":"Gastroparesis Patient Association for Cures and Treatments","Website__c":"https://www.g-pact.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:2978"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1213","Source__c":"Gene Review","Xref__c":"NBK1213"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=235828008","Source__c":"C0238062; MONDO:0017574","Xref__c":"235828008"},{"URL__c":"https://www.orpha.net/en/disease/detail/2978","Source__c":"C0238062; MONDO:0017574; ORPHA:2978","Xref__c":"ORPHA:2978"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0238062","Source__c":"C0238062","Xref__c":"C0238062"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=536759","Source__c":"C0238062","Xref__c":"MEDGEN:536759"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C192634","Source__c":"C0238062","Xref__c":"C192634"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017574","Source__c":"GARD:0012744","Xref__c":"MONDO:0017574"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2978","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An anomaly in platelet form, ultrastructure, or intracellular organelles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011875","HPO_Synonym__c":"Abnormal shape of platelets","HPO_Name__c":"Abnormal platelet morphology","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2978","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002566","HPO_Synonym__c":"Malrotation","HPO_Name__c":"Intestinal malrotation","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2978","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A structural anomaly of the nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012639","HPO_Synonym__c":"Abnormal shape of nervous system; Abnormality of nervous system morphology","HPO_Name__c":"Abnormal nervous system morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2978","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Pyloric stenosis, also known as infantile hypertrophic pyloric stenosis, is an uncommon condition in infants characterized by abnormal thickening of the pylorus muscles in the stomach leading to gastric outlet obstruction. Clinically infants are well at birth. Then, at 3 to 6 weeks of age, the infants present with projectile vomiting, potentially leading to dehydration and weight loss.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002021","HPO_Synonym__c":"Infantile hypertrophic pyloric stenosis; Pylorus stenosis","HPO_Name__c":"Pyloric stenosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2978","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001643","HPO_Synonym__c":"Ductus arteriosus; Patent ductus Botalli; PDA; Persistent arterial duct; Persistent ductus arteriosus","HPO_Name__c":"Patent ductus arteriosus","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2978","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002242","HPO_Synonym__c":"Abnormality of the intestine; Enteropathy","HPO_Name__c":"Abnormal intestine morphology","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology"],"Specialist":["Genetics","Gastroenterology","Pediatrics"]},"synonyms":["chronic intestinal pseudo-obstruction"," cipo"," intestinal pseudo-obstruction, chronic"],"spanishId":13502,"spanishName":"pseudoobstruccion-intestinal-cronica"}