{"Name":"Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked","DiseaseID__c":"GARD:0003017","id":3017,"encodedName":"intestinal-pseudoobstruction-neuronal-chronic-idiopathic-x-linked","IsDeleted":false,"Disease_Name_Full__c":"Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked","Xref_IDs__c":"C2746068; C535532; DOID:0080681; MEDGEN:412536; MONDO:0010232; OMIM:300048","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":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0010232","Disease_Description__c":"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). When intestinal pseudo-obstruction occurs by itself, it is called primary or idiopathic (unknown cause) intestinal pseudo-obstruction. The disorder can also develop as a complication of another medical condition; in these cases, it is called secondary intestinal pseudo-obstruction. Individuals with this condition have symptoms that resemble those of an intestinal blockage (obstruction) but without any obstruction. It may be acute or chronic and is characterized by the presence of dilation of the bowel on imaging. The causes may be unknown or due to alterations (mutations) in the FLNA gene, other genes or are secondary to other conditions. It may be inherited in some cases. Intestinal pseudoobstruction neuronal chronic idiopathic X-linked is caused by alterations (mutations) in the FLNA gene which is located in the X chromosome. There is no specific treatment but several medications and procedures may be used to treat the symptoms.","GARD_Name__c":"Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked","GARD_Synonym__c":"ciipx; congenital idiopathic intestinal pseudoobstruction; congenital short bowel syndrome, x-linked recessive; intestinal pseudoobstruction, neuronal, chronic idiopathic, with central nervous system involvement; intestinal pseudoobstruction, neuronal, x-linked recessive","Curated_Disease_Description_Source__c":"GARD:0003017","Curated_Disease_Description__c":"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). When intestinal pseudo-obstruction occurs by itself, it is called primary or idiopathic (unknown cause) intestinal pseudo-obstruction. The disorder can also develop as a complication of another medical condition; in these cases, it is called secondary intestinal pseudo-obstruction. Individuals with this condition have symptoms that resemble those of an intestinal blockage (obstruction) but without any obstruction. It may be acute or chronic and is characterized by the presence of dilation of the bowel on imaging. The causes may be unknown or due to alterations in the FLNA gene, other genes or are secondary to other conditions. It may be inherited in some cases. Intestinal pseudoobstruction neuronal chronic idiopathic X-linked is caused by alterations in the FLNA gene which is located in the X chromosome.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:300048","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010232","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. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (neurogenic). When intestinal pseudo-obstruction occurs by itself, it is called primary or idiopathic (unknown cause) intestinal pseudo-obstruction. The disorder can also develop as a complication of another medical condition; in these cases, it is called secondary intestinal pseudo-obstruction. Individuals with this condition have symptoms that resemble those of an intestinal blockage (obstruction) but without any obstruction. It may be acute or chronic and is characterized by the presence of dilation of the bowel on imaging. The causes may be unknown or due to alterations in the FLNA gene, other genes or are secondary to other conditions. It may be inherited in some cases. Intestinal pseudoobstruction neuronal chronic idiopathic X-linked is caused by alterations in the FLNA gene which is located in the X chromosome.","Curated_Disease_Description_Source__c":"GARD:0003017","GARD_Synonym__c":"ciipx; congenital idiopathic intestinal pseudoobstruction; congenital short bowel syndrome, x-linked recessive; intestinal pseudoobstruction, neuronal, chronic idiopathic, with central nervous system involvement; intestinal pseudoobstruction, neuronal, x-linked recessive","Name":"Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked","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://raresource.nih.gov/diseases/filter/0003017","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1213","Source__c":"Gene Review","Xref__c":"NBK1213"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=412536","Source__c":"C2746068","Xref__c":"MEDGEN:412536"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080681","Source__c":"MONDO:0010232","Xref__c":"DOID:0080681"},{"URL__c":"https://www.omim.org/entry/300048","Source__c":"C2746068; MONDO:0010232","Xref__c":"OMIM:300048"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535532","Source__c":"MONDO:0010232","Xref__c":"C535532"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2746068","Source__c":"C2746068","Xref__c":"C2746068"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010232","Source__c":"GARD:0003017","Xref__c":"MONDO:0010232"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FLNA","GHR_URL__c":"https://medlineplus.gov/genetics/gene/flna","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:300048","Feature__r":{"HPO_Description__c":"Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000369","HPO_Synonym__c":"Low set ears; Low-set ears; Low-set pinnae; Lowset ears; Melotia","HPO_Name__c":"Low-set ears","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300048","Feature__r":{"HPO_Description__c":"An abnormal morphology (form) of the face or its components.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001999","HPO_Synonym__c":"Abnormal facial shape; Abnormal morphology of the face; Distinctive facies; Dysmorphic facial features; Dysmorphic facies; Facial dysmorphism; Unusual facial appearance; Unusual facies","HPO_Name__c":"Abnormal facial shape","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300048","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Substantially shortened length of the small intestine as a result of a developmental defect.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030889","HPO_Name__c":"Congenital shortened small intestine","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300048","Feature__r":{"HPO_Description__c":"Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000319","HPO_Synonym__c":"Decreased depth of philtrum; Flat philtrum; Indistinct philtrum; Philtrum, smooth; Shallow philtrum; Simple philtrum","HPO_Name__c":"Smooth philtrum","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300048","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Severe distention of the kidney with dilation of the renal pelvis and calices.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000126","HPO_Name__c":"Hydronephrosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300048","Feature__r":{"HPO_Description__c":"Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008872","HPO_Name__c":"Feeding difficulties in infancy","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300048","Feature__r":{"HPO_Description__c":"The palpebral fissure inclination is more than two standard deviations below the mean.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000494","HPO_Synonym__c":"Antimongoloid eye slant; Antimongoloid slant of palpebral fissures; Antimongoloid slanted palpebral fissures; Down slanting palpebral fissures; Down-slanted palpebral fissures; Down-slanting palpebral fissure; Down-slanting palpebral fissures; Downslanting palpebral fissure; Downslanting palpebral fissures; Downward slanted palpebral fissures; Downward slanting of the opening between the eyelids; Downward slanting palpebral fissures; Downward-slanting palpebral fissures; Palpebral fissures down-slanted","HPO_Name__c":"Downslanted palpebral fissures","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300048","Feature__r":{"HPO_Description__c":"Average platelet volume above the upper limit of the normal reference interval.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011877","HPO_Synonym__c":"Large platelets","HPO_Name__c":"Increased mean platelet volume","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300048","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040309","HPO_Synonym__c":"Large jaw","HPO_Name__c":"Increased size of the mandible","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300048","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300048","Feature__r":{"HPO_Description__c":"Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000316","HPO_Synonym__c":"Excessive orbital separation; Increased distance between eye sockets; Increased distance between eyes; Increased interpupillary distance; Ocular hypertelorism; Wide-set eyes; Widely spaced eyes; Widened interpupillary distance","HPO_Name__c":"Hypertelorism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300048","Feature__r":{"HPO_Description__c":"Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002013","HPO_Synonym__c":"Emesis; Throwing up; Vomiting","HPO_Name__c":"Vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300048","Feature__r":{"HPO_Description__c":"Distention of the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003270","HPO_Synonym__c":"Abdominal bloating; Abdominal distension; Abdominal swelling; Belly bloating; Bloating; Distended abdomen","HPO_Name__c":"Abdominal distention","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300048","HPO_Frequency__c":"Occasional (5-29%)","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":"OMIM:300048","Feature__r":{"HPO_Description__c":"A functional rather than mechanical obstruction of the intestines, associated with manifestations that resemble those caused by an intestinal obstruction, including distension, abdominal pain, nausea, vomiting, constipation or diarrhea, in an individual in whom a mechanical blockage has been excluded.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004389","HPO_Synonym__c":"Intestinal pseudoobstruction","HPO_Name__c":"Intestinal pseudo-obstruction","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300048","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":"OMIM:300048","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001264","HPO_Synonym__c":"Spastic diparesis; Spastic diplegic","HPO_Name__c":"Spastic diplegia","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300048","Feature__r":{"HPO_Description__c":"A reduction in the number of circulating thrombocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001873","HPO_Synonym__c":"Low platelet count","HPO_Name__c":"Thrombocytopenia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300048","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"}}],"tags":{},"synonyms":["ciipx"," congenital idiopathic intestinal pseudoobstruction"," congenital short bowel syndrome, x-linked recessive"," intestinal pseudoobstruction, neuronal, chronic idiopathic, with central nervous system involvement"," intestinal pseudoobstruction, neuronal, x-linked recessive"]}