{"Name":"Intestinal pseudo-obstruction","DiseaseID__c":"GARD:0006789","id":6789,"encodedName":"intestinal-pseudo-obstruction","IsDeleted":false,"Disease_Name_Full__c":"Intestinal pseudo-obstruction","Xref_IDs__c":"235825006; C0021847; C34733; D007418; HP:0004389; MEDGEN:5864; MONDO:0002803","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":2,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":2,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0002803","Disease_Description__c":"Intestinal pseudo-obstruction is a digestive disorder in whichthe intestinal walls are unable to contract normally (called hypomotility); the conditionresembles 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 andensure that nutritional support is adequate.","GARD_Name__c":"Intestinal pseudo-obstruction","GARD_Synonym__c":"chronic intestinal pseudo-obstruction.; hollow visceral myopathy; intestinal pseudoobstruction; intestine pseudoobstruction; pseudo-obstruction of intestine","Curated_Disease_Description_Source__c":"GARD:0006789","Curated_Disease_Description__c":"Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract. It can occur at any time of life, and its symptoms range from mild to severe. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (neurogenic). Intestinal pseudo-obstruction leads to a buildup of partially digested food in the intestines. This buildup can cause abdominal swelling (distention) and pain, nausea, vomiting, and constipation or diarrhea. Affected individuals experience loss of appetite and impaired ability to absorb nutrients, which may lead to malnutrition. These symptoms resemble those of an intestinal blockage (obstruction), but in intestinal pseudo-obstruction no blockage is found. Depending on the cause of intestinal pseudo-obstruction, affected individuals can have additional signs and symptoms. Some people with intestinal pseudo-obstruction have bladder dysfunction such as an inability to pass urine. Other, additional features may include decreased muscle tone (hypotonia) or stiffness (spasticity) of the torso and limbs, weakness in the muscles that control eye movement (ophthalmoplegia), intellectual disability, seizures, unusual facial features, or recurrent infections. When intestinal pseudo-obstruction occurs without additional features, it is called primary or idiopathic intestinal pseudo-obstruction. When the disorder occurs along with other signs and symptoms or as a complication of another health condition, it is called secondary intestinal pseudo-obstruction. The condition can occur once in a while (acute) or steadily (chronic).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0002803","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract. It can occur at any time of life, and its symptoms range from mild to severe. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (neurogenic). Intestinal pseudo-obstruction leads to a buildup of partially digested food in the intestines. This buildup can cause abdominal swelling (distention) and pain, nausea, vomiting, and constipation or diarrhea. Affected individuals experience loss of appetite and impaired ability to absorb nutrients, which may lead to malnutrition. These symptoms resemble those of an intestinal blockage (obstruction), but in intestinal pseudo-obstruction no blockage is found. Depending on the cause of intestinal pseudo-obstruction, affected individuals can have additional signs and symptoms. Some people with intestinal pseudo-obstruction have bladder dysfunction such as an inability to pass urine. Other, additional features may include decreased muscle tone (hypotonia) or stiffness (spasticity) of the torso and limbs, weakness in the muscles that control eye movement (ophthalmoplegia), intellectual disability, seizures, unusual facial features, or recurrent infections. When intestinal pseudo-obstruction occurs without additional features, it is called primary or idiopathic intestinal pseudo-obstruction. When the disorder occurs along with other signs and symptoms or as a complication of another health condition, it is called secondary intestinal pseudo-obstruction. The condition can occur once in a while (acute) or steadily (chronic).","Curated_Disease_Description_Source__c":"GARD:0006789","GARD_Synonym__c":"chronic intestinal pseudo-obstruction.; hollow visceral myopathy; intestinal pseudoobstruction; intestine pseudoobstruction; pseudo-obstruction of intestine","Name":"Intestinal pseudo-obstruction","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"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/"}],"External_Identifier_Disease__c":[{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C34733","Source__c":"C0021847; MONDO:0002803","Xref__c":"C34733"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=235825006","Source__c":"C0021847; MONDO:0002803","Xref__c":"235825006"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=5864","Source__c":"C0021847","Xref__c":"MEDGEN:5864"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0021847","Source__c":"C0021847","Xref__c":"C0021847"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C007418","Source__c":"C0021847; MONDO:0002803","Xref__c":"D007418"},{"URL__c":"https://medlineplus.gov/genetics/condition/intestinal-pseudo-obstruction","Source__c":"GARD:0006789","Xref__c":"https://medlineplus.gov/genetics/condition/intestinal-pseudo-obstruction"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0004389","Source__c":"C0021847","Xref__c":"HP:0004389"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0002803","Source__c":"GARD:0006789","Xref__c":"MONDO:0002803"},{"URL__c":"https://www.niddk.nih.gov/health-information/digestive-diseases/intestinal-pseudo-obstruction"}],"tags":{},"synonyms":["chronic intestinal pseudo-obstruction."," hollow visceral myopathy"," intestinal pseudoobstruction"," intestine pseudoobstruction"," pseudo-obstruction of intestine"]}