{"orpha":79403,"name":"Junctional epidermolysis bullosa with pyloric atresia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Carmi syndrome","JEB with pyloric atresia","JEB-PA"],"definition":"A severe form of junctional epidermolysis bullosa (JEB) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79403/","orphanet_url":"https://www.orpha.net/en/disease/detail/79403","names":{"fr":{"name":"Epidermolyse bulleuse jonctionnelle avec atrésie pylorique","synonyms":["EBJ avec atrésie pylorique","EBJ-AP","Epidermolyse bulleuse jonctionnelle avec atrésie du pylore","Syndrome de Carmi"],"definition":"Forme sévère d'épidermolyse bulleuse jonctionnelle (EBJ) caractérisée par des cloques généralisées à la naissance et une atrésie congénitale du pylore affectant rarement d'autres parties du tractus gastro-intestinal."},"de":{"name":"Junktionale Epidermolysis bullosa mit Pylorusatresie","synonyms":["Carmi-Syndrom","EBJ-PA"],"definition":"Eine schwere Form der junktionalen Epidermolysis bullosa (JEB), die durch eine generalisierte Blasenbildung bei der Geburt und eine angeborene Atresie des Pylorus und seltener anderer Teile des Magen-Darm-Trakts gekennzeichnet ist."},"es":{"name":"Epidermólisis ampollosa juntural con atresia pilórica","synonyms":["Epidermólisis bullosa juntural con atresia pilórica","JEB con atresia pilórica","Síndrome de Carmi"],"definition":"Es una forma grave de epidermólisis ampollosa juntural (EAJ) caracterizada por ampollas generalizadas al nacer y atresia congénita del píloro y, excepcionalmente, de otras porciones del tracto digestivo."},"it":{"name":"Epidermolisi bollosa giunzionale con atresia del piloro","synonyms":["JEB con atresia pilorica","JEB-PA","Sindrome di Carmi"],"definition":"L'epidermolisi bollosa giunzionale con atresia del piloro (JEB-PA) è una forma grave di epidermolisi bollosa giunzionale (JEB), caratterizzata da vesciche generalizzate congenite, atresia congenita del piloro e, di rado, di altre porzioni del tratto gastrointestinale."},"nl":{"name":"Junctionele epidermolysis bullosa met pylorusatresie","synonyms":["Syndroom van Carmi","JEB met pylorusatresie","JEB-PA"],"definition":"Een ernstige vorm van junctionele epidermolysis bullosa (JEB), gekenmerkt door gegeneraliseerde blaarvorming bij de geboorte en congenitale atresie van pylorus en in zeldzame gevallen andere delen van maag-darmstelsel."},"pt":{"name":"Epidermólise bolhosa juncional com atrésia do piloro","synonyms":["JEB-PA","Síndrome Carmi"],"definition":"Forma grave de epidermólise bolhosa juncional (EBJ) caracterizada por vesículas generalizadas ao nascimento e atrésia congénita do piloro e raramente de outras regiões do trato gastrointestinal."},"pl":{"name":"Pęcherzowe oddzielanie się naskórka graniczne z zarośnięciem odźwiernika","synonyms":["Zespół Carmi"]},"cs":{"name":"Syndrom zahrnující junkční epidermolysis bullosa a atrézii pyloru","synonyms":["Carmiové syndrom","JEB-PA"]},"uk":{"name":"Межовий бульозний епідермоліз з атрезією пілоруса","synonyms":["Синдром Кармі","БЕЗ з атрезією пілоричного відділу шлунка","БЕЗ-PA"],"definition":"A severe form of junctional epidermolysis bullosa (JEB) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract."},"zh":{"name":"交界型大疱性表皮松解症-幽门闭锁综合征","synonyms":["Carmi综合征"]},"tr":{"name":"Junctional epidermolizis bülloza-pilorik atrezi sendromu","synonyms":["JEB-PA","Carmi sendromu"]}},"xrefs":[{"source":"OMIM","code":"226730","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619817","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q81.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC31","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1877890811"},{"source":"MONDO","code":"0009183","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535377","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1856934","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":305,"name":"Junctional epidermolysis bullosa","classifications":[147,156,187]},{"orpha":98027,"name":"Rare disease with odontological manifestation","classifications":[197]}],"children":[],"genes":[{"symbol":"ITGA6","name":"integrin subunit alpha 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"9185503[PMID]_20301336[PMID]","hgnc":"6142","ensembl":"ENSG00000091409","omim":"147556","loci":["2q31.1"]},{"symbol":"ITGB4","name":"integrin subunit beta 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11328943[PMID]_20301336[PMID]","hgnc":"6158","ensembl":"ENSG00000132470","omim":"147557","loci":["17q25.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"20301336[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20301336[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"20301336[PMID]_20507631[PMID]_20301481[PMID]","terms":[{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004399","label":"Congenital pyloric atresia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011100","label":"Intestinal atresia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200097","label":"Oral mucosal blisters","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010477","label":"Aplasia of the bladder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006297","label":"Enamel hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000790","label":"Hematuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001581","label":"Recurrent skin infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000075","label":"Renal duplication","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000110","label":"Renal dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000070","label":"Ureterocele","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012227","label":"Urethral stricture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100577","label":"Urinary bladder inflammation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001057","label":"Aplasia cutis congenita","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000656","label":"Ectropion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008404","label":"Nail dystrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001059","label":"Pterygium","frequency":"Occasional (29-5%)","criteria":null}]}}