{"orpha":661,"name":"Congenital central hypoventilation syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Ondine curse","Ondine syndrome","CCHS","Congenital central alveolar hypoventilation syndrome"],"definition":"Congenital central hypoventilation syndrome (CCHS) is a rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-661/","orphanet_url":"https://www.orpha.net/en/disease/detail/661","names":{"fr":{"name":"Syndrome d'Ondine","synonyms":["CCHS","Syndrome d'hypoventilation alvéolaire centrale congénitale","Syndrome d'hypoventilation centrale congénitale"],"definition":"Maladie rare due à une altération sévère du contrôle central de la respiration et à un dysfonctionnement du système nerveux autonome."},"de":{"name":"Kongenitales zentrales Hypoventilationssyndrom","synonyms":["CCHS","Hypoventilation, alveoläre kongenitale","Kongenitales zentral-alveoläres Hypoventilations-Syndrom","Ondine-Syndrom","Undine-Syndrom"],"definition":"Das Kongenitale zentrale Hypoventilationssyndrom (CCHS) ist eine seltene Krankheit mit schwerer Beeinträchtigung der zentralen autonomen Atmungskontrolle. Ursache ist eine Funktionsstörung des autonomen Nervensystems."},"es":{"name":"Síndrome de hipoventilación central congénita","synonyms":["CCHS","Maldición de Ondine","Síndrome de Ondine","Síndrome de hipoventilación alveolar central congénita"],"definition":"El síndrome de hipoventilación central congénita (CCHS, por sus siglas en inglés) es una enfermedad poco frecuente debida a una afectación grave del control autonómico central de la respiración y a una disfunción del sistema nervioso autónomo."},"it":{"name":"Sindrome congenita da ipoventilazione centrale","synonyms":["CCHS","Maledizione di Ondine","Sindrome congenita da ipoventilazione alveolare centrale","Sindrome di Ondine"]},"nl":{"name":"Congenitale centrale hypoventilatie-syndroom","synonyms":["CCHS","Congenitale centrale alveolaire hypoventilatie-syndroom","Ondines vloek","Syndroom van Ondine"],"definition":"Een zeldzame aandoening door ernstig verstoorde centrale autonome controle van ademhaling en disfunctie van autonoom zenuwstelsel."},"pt":{"name":"Síndrome de hipoventilação central congénita","synonyms":["CCHS","Síndrome Ondine","Síndrome de hipoventilação alveolar central congénita"]},"pl":{"name":"Zespół Ondyny","synonyms":["CCHS","Klątwa Ondyny","Zespół wrodzonej ośrodkowej hipowentylacji","Zespół wrodzonej ośrodkowej hipowentylacji pęcherzykowej"]},"cs":{"name":"Ondinina kletba","synonyms":["CCHS","Vrozený centrální hypoventilační syndrom","Vrozený centrální alveolární hypoventilační syndrom"]},"uk":{"name":"Синдром вродженої центральної гіповентиляції","synonyms":["CCHS","Синдром вродженої центральної альвеолярної гіповентиляції","Прокляття Ундіни","Синдром Ундіни"],"definition":"Congenital central hypoventilation syndrome (CCHS) is a rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system."},"zh":{"name":"Ondine综合征","synonyms":["先天性中枢性肺泡换气不足综合征"]},"tr":{"name":"Ondine sendromu","synonyms":["CCHS","Ondine laneti","Santral doğumsal hipoventilasyon sendromu","Doğumsal santral alveolar hipoventilasyon sendromu"]}},"xrefs":[{"source":"OMIM","code":"209880","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"619482","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619483","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G47.3","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"7A42.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1750742010"},{"source":"MeSH","code":"C536209","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1275808","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8535","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10066131","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":423662,"name":"Rare autonomic nervous system disorder","classifications":[181]},{"orpha":434786,"name":"Rare genetic autonomic nervous system disorder","classifications":[156]},{"orpha":156610,"name":"Rare genetic respiratory disease","classifications":[156]},{"orpha":101944,"name":"Rare pulmonary disease","classifications":[184]}],"children":[],"genes":[{"symbol":"BDNF","name":"brain derived neurotrophic factor","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"11840487[PMID]","hgnc":"1033","ensembl":"ENSG00000176697","omim":"113505","loci":["11p14.1"]},{"symbol":"EDN3","name":"endothelin 3","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"8696331[PMID]_20301600[PMID]","hgnc":"3178","ensembl":"ENSG00000124205","omim":"131242","loci":["20q13.32"]},{"symbol":"GDNF","name":"glial cell derived neurotrophic factor","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":null,"hgnc":"4232","ensembl":"ENSG00000168621","omim":"600837","loci":["5p13.2"]},{"symbol":"LBX1","name":"ladybird homeobox 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30487221[PMID]","hgnc":"16960","ensembl":"ENSG00000138136","omim":"604255","loci":["10q24.32"]},{"symbol":"MYO1H","name":"myosin IH","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28779001[PMID]","hgnc":"13879","ensembl":"ENSG00000174527","omim":"614636","loci":["12q24.11"]},{"symbol":"PHOX2B","name":"paired like homeobox 2B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301600[PMID]","hgnc":"9143","ensembl":"ENSG00000109132","omim":"603851","loci":["4p13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.5,"area":"France","status":"Validated","source":"15653965[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002270","label":"Abnormality of the autonomic nervous system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002251","label":"Aganglionic megacolon","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006747","label":"Ganglioneuroblastoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003005","label":"Ganglioneuroma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100006","label":"Neoplasm of the central nervous system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003006","label":"Neuroblastoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null}]}}