{"Name":"Hirschsprung disease-ganglioneuroblastoma syndrome","DiseaseID__c":"GARD:0002695","id":2695,"encodedName":"hirschsprung-disease-ganglioneuroblastoma-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Hirschsprung disease-ganglioneuroblastoma syndrome","Xref_IDs__c":"C5191058; C538119; MEDGEN:1683967; MONDO:0013082; ORPHA:2151","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":5,"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":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0013082","Disease_Description__c":"A rare, genetic, developmental defect during embryogenesis syndrome characterized by total or partial colonic aganglionosis associated with peripheral, usually multifocal, neuroblastic tumors (ganglioneuroblastoma, neuroblastoma, ganglioneuroma). Congenital central hypoventilation syndrome, with variable severity of respiratory compromise, cardiovascular and ophthalmologic symptoms, consistent with autonomic nervous system dysfunction, is occasionally associated.","GARD_Name__c":"Hirschsprung disease-ganglioneuroblastoma syndrome","GARD_Synonym__c":"hirschsprung disease, ganglioneuroblastoma syndrome; neuroblastoma with hirschsprung disease","Curated_Disease_Description_Source__c":"MONDO:0013082","Curated_Disease_Description__c":"A rare, genetic, developmental defect during embryogenesis syndrome characterized by total or partial colonic aganglionosis associated with peripheral, usually multifocal, neuroblastic tumors (ganglioneuroblastoma, neuroblastoma, ganglioneuroma). Congenital central hypoventilation syndrome, with variable severity of respiratory compromise, cardiovascular and ophthalmologic symptoms, consistent with autonomic nervous system dysfunction, is occasionally associated.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:2151","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013082","ORPHANET_ID__c":"ORPHA:2151","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de enfermedad de hirschsprung-ganglioneuroma","Spanish_Description_Source__c":"ORPHA:2151","Spanish_Description__c":"Es un síndrome genético y poco frecuente por defectos del desarrollo embrionario caracterizado por aganglionosis total o parcial del colón asociada a tumores neuroblásticos periféricos, por lo general, multifocales (ganglioneuroblastoma, neuroblastoma, ganglioneuroma). Ocasionalmente, se asocia al síndrome de hipoventilación central congénito, con compromiso respiratorio de gravedad variable y síntomas cardiovasculares y oftalmológicos compatibles con disfunción del sistema nervioso autónomo.","Spanish_Disease_Name__c":"síndrome de enfermedad de hirschsprung-ganglioneuroma","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:93890","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":"A rare, genetic, developmental defect during embryogenesis syndrome characterized by total or partial colonic aganglionosis associated with peripheral, usually multifocal, neuroblastic tumors (ganglioneuroblastoma, neuroblastoma, ganglioneuroma). Congenital central hypoventilation syndrome, with variable severity of respiratory compromise, cardiovascular and ophthalmologic symptoms, consistent with autonomic nervous system dysfunction, is occasionally associated.","Curated_Disease_Description_Source__c":"MONDO:0013082","GARD_Synonym__c":"hirschsprung disease, ganglioneuroblastoma syndrome; neuroblastoma with hirschsprung disease","Name":"Hirschsprung disease-ganglioneuroblastoma syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"REACH","Website__c":"https://www.reachhd.org"},{"Account_Name__c":"International Foundation for Functional Gastrointestinal Disorders","Website__c":"https://iffgd.org/"},{"Account_Name__c":"Pull-thru Network","Website__c":"https://www.pullthrunetwork.org/"},{"Account_Name__c":"Children's Neuroblastoma Cancer Foundation","Website__c":"https://www.cncfhope.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":"Ophthalmology","Tag_Category__c":"Specialist"},{"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":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2151"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C2751683"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002695","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1683967","Source__c":"C5191058","Xref__c":"MEDGEN:1683967"},{"URL__c":"https://www.orpha.net/en/disease/detail/2151","Source__c":"C5191058; MONDO:0013082; ORPHA:2151","Xref__c":"ORPHA:2151"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538119","Source__c":"MONDO:0013082","Xref__c":"C538119"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5191058","Source__c":"C5191058","Xref__c":"C5191058"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=783737007","Source__c":"C5191058","Xref__c":"783737007"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013082","Source__c":"GARD:0002695","Xref__c":"MONDO:0013082"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2151","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the pupil.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000615","HPO_Synonym__c":"Abnormal pupillary morphology; Abnormality of the pupil; Pupillary abnormalities; Pupillary abnormality","HPO_Name__c":"Abnormal pupil morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2151","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000975","HPO_Synonym__c":"Diaphoresis; Excessive sweating; Increased sweating; Profuse sweating; Sweating; Sweating profusely; Sweating, increased","HPO_Name__c":"Hyperhidrosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2151","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006747","HPO_Name__c":"Ganglioneuroblastoma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2151","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011675","HPO_Synonym__c":"Abnormal heart rate; Arrhythmias; Cardiac arrhythmia; Cardiac arrhythmias; Cardiac rhythm disturbances; Heart rhythm disorders; Irregular heart beat; Irregular heartbeat","HPO_Name__c":"Arrhythmia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2151","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001657","HPO_Synonym__c":"Long QT syndrome; Prolong qt interval on ekg","HPO_Name__c":"Prolonged QT interval","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Procedure_EKG"}},{"Provided_By__c":"ORPHA:2151","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002251","HPO_Synonym__c":"Enlarged colon lacking nerve cells; Hirschsprung megacolon","HPO_Name__c":"Aganglionic megacolon","Feature_System__c":"Nervous System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2151","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:2151","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004375","HPO_Synonym__c":"Tumor of the nervous system","HPO_Name__c":"Neoplasm of the nervous system","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology"],"Specialist":["Genetics","Ophthalmology","Gastroenterology","Anterior segment of Eye","Pediatrics"]},"synonyms":["hirschsprung disease, ganglioneuroblastoma syndrome"," neuroblastoma with hirschsprung disease"]}