{"orpha":2069,"name":"Gastrocutaneous syndrome","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare, syndromic, hyperpigmentation of the skin characterized by multiple lentigines and café-au-lait spots associated with hiatal hernia and peptic ulcer, hypertelorism and myopia. There have been no further descriptions in the literature since 1982.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2069/","orphanet_url":"https://www.orpha.net/en/disease/detail/2069","names":{"fr":{"name":"Syndrome gastro-cutané","definition":"Hyperpigmentation rare et syndromique de la peau caractérisée par des lentigines multiples et des taches café-au-lait associées à une hernie hiatale et à un ulcère gastroduodénal, à un hypertélorisme et à une myopie. Aucun cas n'a été décrit dans la littérature depuis 1982."},"de":{"name":"Gastro-kutanes Syndrom"},"es":{"name":"Síndrome gastrocutáneo","definition":"Es un trastorno sindrómico de hiperpigmentación cutánea poco frecuente caracterizado por la presencia de múltiples lentigos y manchas café con leche asociadas a hernia de hiato y úlcera péptica, hipertelorismo y miopía. Desde 1982 no ha habido más casos descritos en la literatura."},"it":{"name":"Sindrome gastrocutanea","definition":"La sindrome gastrocutanea è un'iperpigmentazione sindromica rara della cute, caratterizzata da lentiggini multiple e macchie caffè-latte, associate ad ernia iatale, ulcera peptica, ipertelorismo e miopia. Non sono stati descritti nuovi casi dopo il 1982."},"nl":{"name":"Gastrocutaan syndroom","definition":"Een zeldzame, syndromale, hyperpigmentatie van huid, gekarakteriseerd door meervoudige lentigines en café-au-lait vlekken, geassocieerd met hiatale hernia (maagbreuk) en maagzweer, hypertelorisme en myopie. Sinds 1982 verschenen er geen bijkomende beschrijvingen meer in de literatuur."},"pt":{"name":"Síndrome gastro-cutâneo"},"pl":{"name":"Zespół żołądkowo-skórny"},"cs":{"name":"Gastrokutánní syndrom"},"uk":{"name":"Шлунково-кишковий синдром","definition":"A rare, syndromic, hyperpigmentation of the skin characterized by multiple lentigines and café-au-lait spots associated with hiatal hernia and peptic ulcer, hypertelorism and myopia. There have been no further descriptions in the literature since 1982."},"zh":{"name":"胃皮肤综合征"},"tr":{"name":"Gastrokutanöz sendrom"}},"xrefs":[{"source":"OMIM","code":"137270","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q85.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC23.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1431211717"},{"source":"MONDO","code":"0007651","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535651","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1850899","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2438","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":165658,"name":"Genetic gastro-esophageal disease","classifications":[156]},{"orpha":183466,"name":"Genetic hyperpigmentation of the skin","classifications":[156]},{"orpha":79375,"name":"Hyperpigmentation of the skin","classifications":[187]},{"orpha":101936,"name":"Rare gastroesophageal disease","classifications":[152]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":24.0,"area":"Worldwide","status":"Validated","source":"7065007[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_7065007[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002036","label":"Hiatus hernia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000995","label":"Melanocytic nevus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007565","label":"Multiple cafe-au-lait spots","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001003","label":"Multiple lentigines","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004398","label":"Peptic ulcer","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005978","label":"Type II diabetes mellitus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001677","label":"Coronaryartery atherosclerosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Occasional (29-5%)","criteria":null}]}}