{"orpha":2575,"name":"Cystic fibrosis-gastritis-megaloblastic anemia syndrome","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":["Lubani-Al Saleh-Teebi syndrome"],"definition":"A rare genetic disease characterized by cystic fibrosis, gastritis associated with <i>Helicobacter pylori</i>, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2575/","orphanet_url":"https://www.orpha.net/en/disease/detail/2575","names":{"fr":{"name":"Syndrome de mucoviscidose-gastrite-anémie mégaloblastique","synonyms":["Syndrome de Lubani-Al Saleh-Teebi"],"definition":"Maladie génétique rare caractérisée par une mucoviscidose, une gastrite associée à une infection à <i>Helicobacter pylori</i>, une anémie mégaloblastique par carence en folates et une déficience intellectuelle. Aucun nouveau cas n'a été décrit dans la littérature depuis 1991."},"de":{"name":"Zystische Fibrose mit Gastritris und Megaloblastenanämie","synonyms":["Lubani-al Saleh-Teebi-Syndrom"],"definition":"Eine seltene genetische Erkrankung, die durch Mukoviszidose, Gastritis in Verbindung mit <i>Helicobacter pylori</i>, folatmangelbedingte Megaloblastenanämie und Intelligenzminderung gekennzeichnet ist. Seit 1991 gibt es in der Literatur keine weiteren Beschreibungen."},"es":{"name":"Síndrome de mucoviscidosis-gastritis-anemia megaloblástica","synonyms":["Síndrome de Lubani-Al Saleh-Teebi"],"definition":"Es una enfermedad genética poco frecuente caracterizada por fibrosis quística, gastritis asociada a&#160;<i>Helicobacter pylori</i>, deficiencia de folato, anemia megaloblástica y discapacidad intelectual. No se han descrito nuevos casos en la literatura desde 1991."},"it":{"name":"Sindrome fibrosi cistica - gastrite - anemia megaloblastica","synonyms":["Sindrome di Lubani-Al Saleh-Teebi"],"definition":"La sindrome che associa fibrosi cistica-gastrite-anemia megaloblastica, nota anche come sindrome di Lubani-Al Saleh-Teebi, è una malattia rara di origine genetica, descritta in due fratelli nati da genitori arabi consanguinei. È caratterizzata da fibrosi cistica, gastrite associata a <i>Helicobacter pylori</i>, anemia megaloblastica da deficit di folati e disabilità intellettiva. Non sono stati descritti nuovi casi dopo il 1991."},"nl":{"name":"Cystische fibrose - gastritis - megaloblastische anemie-syndroom","synonyms":["Syndroom van Lubani-Al Saleh-Teebi"],"definition":"Een zeldzame genetische aandoening, gekenmerkt door cystische fibrose, gastritis geassocieerd met <i>Helicobacter pylori</i>, megaloblastische anemie door deficiëntie van folaat, en intellectuele achterstand. Sinds 1991 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome fibrose quística-gastrite-anemia megaloblástica","synonyms":["Síndrome Lubani-Al Saleh-Teebi"]},"pl":{"name":"Mukowiscydoza - zapalenie żołądka - niedokrwistość megaloblastyczna","synonyms":["Zespół Lubani, Al Saleh i Teebi"],"definition":"Rzadka choroba genetyczna, w której występuje mukowiscydoza, zapalenie żołądka związane z zakażeniem Helicobacter pylori, niedokrwistość megaloblastyczna z niedoboru kwasu foliowego i niepełnosprawność intelektualna. Od 1991 roku nie było dalszych opisów w literaturze."},"cs":{"name":"Syndrom zahrnující cystickou fibrózu, gastritidu a megaloblastickou anémii","synonyms":["Lubaniho-Al Salehův-Teebiho syndrom","Lubani-Al Saleh-Teebiho syndrom"]},"uk":{"name":"Синдром кістозного фіброзу-гастриту-мегалобластної анемії","synonyms":["Синдром Любані-аль-Салех-Тібі"],"definition":"A rare genetic disease characterized by cystic fibrosis, gastritis associated with <i>Helicobacter pylori</i>, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991."},"zh":{"name":"囊性纤维化-胃炎-巨幼细胞贫血综合征","synonyms":["Lubani-Al Saleh-Teebi 综合征"]},"tr":{"name":"Kistik fibrozis-gastrit-megaloblastik anemi sendromu","synonyms":["Lubani-Al Saleh-Teebi sendromu"]}},"xrefs":[{"source":"OMIM","code":"219721","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E84.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"CA25.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009062","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537039","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931402","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3303","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97935,"name":"Rare gastroenterologic disease"},"parents":[{"orpha":165658,"name":"Genetic gastro-esophageal disease","classifications":[156]},{"orpha":101936,"name":"Rare gastroesophageal disease","classifications":[152]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"2029916[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_2029916[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001877","label":"Abnormal erythrocyte morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004826","label":"Folate-unresponsive megaloblastic anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005263","label":"Gastritis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001889","label":"Megaloblastic anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000807","label":"Glandular hypospadias","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000100","label":"Nephrotic syndrome","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000049","label":"Shawl scrotum","frequency":"Frequent (79-30%)","criteria":null}]}}