{"orpha":99803,"name":"Haddad syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital central alveolar hypoventilation-Hirschsprung disease syndrome","Ondine-Hirschsprung disease","Ondine-Hirschsprung syndrome"],"definition":"Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99803/","orphanet_url":"https://www.orpha.net/en/disease/detail/99803","names":{"fr":{"name":"Syndrome de Haddad","synonyms":["Maladie d'Ondine-Hirschsprung","Syndrome d'Ondine-Hirschsprung","Syndrome d'hypoventilation alvéolaire centrale congénitale-maladie de Hirschsprung"],"definition":"Le syndrome de Haddad est un syndrome congénital rare associant une hypoventilation centrale congénitale, ou syndrome d'Ondine, et une maladie de Hirschsprung."},"de":{"name":"Haddad-Syndrom","definition":"Das Haddad-Syndrom ist eine seltene angeborene Erkrankung mit zentralem Hypoventilations-Syndrom (CCHS) oder Ondine-Syndrom und begleitender Hirschsprung-Krankheit (s. diese Termini)."},"es":{"name":"Síndrome de Haddad","synonyms":["Enfermedad de Ondine-Hirschsprung","Hipoventilación alveolar central congénita-enfermedad de Hirschsprung","Síndrome de Ondine-Hirschsprung"],"definition":"El síndrome de Haddad es un trastorno congénito raro en el que el síndrome de hipoventilación central congénita (SHCC), o síndrome de Ondine, se presenta simultáneamente con la enfermedad de Hirschsprung."},"it":{"name":"Sindrome di Haddad","synonyms":["Ipoventilazione alveolare centrale congenita - malattia di Hirschsprung","Malattia di Ondine-Hirschsprung","Sindrome di Ondine-Hirschsprung"]},"nl":{"name":"Syndroom van Haddad","synonyms":["Congenitale centrale alveolaire hypoventilatie - ziekte van Hirschsprung-syndroom","Syndroom van Ondine-Hirschsprung","Ziekte van Ondine-Hirschsprung"],"definition":"Een zeldzame congenitale aandoening waarbij syndroom van congenitale centrale hypoventilatie (CCHS), of syndroom van Ondine, gelijktijdig optreedt met ziekte van Hirschsprung."},"pt":{"name":"Síndrome de Haddad","definition":"O síndrome de Haddad é uma patologia congénita rara em que o síndrome de hipoventilação central congénita (CCHS), ou síndrome de Ondine, ocorre concomitantemente com a doença de Hirschsprung (ver estes termos)."},"pl":{"name":"Zespół Haddada","synonyms":["Choroba Ondine'a i Hirschsprunga","Wrodzona ośrodkowa hipowentylacja pęcherzykowa - choroba Hirschsprunga","Zespół Ondine'a i Hirschsprunga"]},"cs":{"name":"Haddadův syndrom","synonyms":["Syndrom zahrnující vrozenou centrální alveolární hypoventilaci a Hirschsprungovu nemoc","Ondinina kletba s Hirschprungovou nemocí"]},"uk":{"name":"Синдром Хаддада","synonyms":["Синдром вродженої центральної альвеолярної гіповентиляції - хвороба Гіршпрунга","Хвороба Ондіна-Гіршпрунга","Синдром Ондіна-Гіршпрунга"],"definition":"Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease (see these terms)."},"zh":{"name":"Haddad综合征","synonyms":["先天性中央肺泡低通气-先天性巨结肠综合征"],"definition":"Haddad综合征是一种罕见的先天性疾病，在此综合征中可见先天性中枢低通气综合征(CCHS)或Ondine综合征与先天性巨结肠同时发生(见该类词条)"},"tr":{"name":"Haddad sendromu","synonyms":["Ondine-Hirschsprung hastalığı","Ondine-Hirschsprung sendromu","Doğumsal santral alveolar hipoventilasyon-Hirschsprung hastalığı sendromu"]}},"xrefs":[{"source":"OMIM","code":"209880","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G47.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1685926536"},{"source":"MONDO","code":"0020493","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1859049","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":104009,"name":"Rare disease involving intestinal motility","classifications":[152,156,233]},{"orpha":557866,"name":"Rare disorder with Hirschsprung disease as a major feature","classifications":[147,156,182,233]},{"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]},{"orpha":98683,"name":"Syndromic disorder with strabismus","classifications":[189]},{"orpha":522520,"name":"Syndromic genetic disorder with strabismus","classifications":[156]}],"children":[],"genes":[{"symbol":"ASCL1","name":"achaete-scute family bHLH transcription factor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"738","ensembl":"ENSG00000139352","omim":"100790","loci":["12q23.2"]},{"symbol":"PHOX2B","name":"paired like homeobox 2B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"9143","ensembl":"ENSG00000109132","omim":"603851","loci":["4p13"]},{"symbol":"RET","name":"ret proto-oncogene","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"9565426[PMID]","hgnc":"9967","ensembl":"ENSG00000165731","omim":"164761","loci":["10q11.21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Multigenic/multifactorial"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":60.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"26086998[PMID]","terms":[{"hpo":"HP:0012332","label":"Abnormal autonomic nervous system physiology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002251","label":"Aganglionic megacolon","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005957","label":"Breathing dysregulation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007110","label":"Central hypoventilation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010536","label":"Central sleep apnea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001522","label":"Death in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001558","label":"Decreased fetal movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003005","label":"Ganglioneuroma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003006","label":"Neuroblastoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null}]}}