{"orpha":261584,"name":"5q22 microdeletion syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Del(5)(q22) syndrome","Monosomy 5q22 syndrome"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-261584/","orphanet_url":"https://www.orpha.net/en/disease/detail/261584","names":{"fr":{"name":"Syndrome de microdélétion 5q22","synonyms":["Syndrome de monosomie 5q22","Syndrome del(5)(q22)"]},"de":{"name":"Mikrodeletionssyndrom 5q22","synonyms":["Del(5)(q22)","Monosomie 5q22.2"]},"es":{"name":"Síndrome de microdeleción 5q22","synonyms":["Síndrome Del(5)(q22)","Síndrome de monosomía 5q22"]},"it":{"name":"Poliposi adenomatosa familiare da microdelezione 5q22.2","synonyms":["FAP da monosomia 5q22.2","Poliposi adenomatosa colorettale da monosomia 5q22.2","Poliposi adenomatosa familiare da del(5)(q22.2)","Poliposi adenomatosa familiare da monosomia 5q22.2","Poliposi rettocolica familiare da monosomia 5q22.2"]},"nl":{"name":"5q22.2-microdeletiesyndroom","synonyms":["Del(5)(q22)-syndroom","Monosomie 5q22-syndroom"]},"pt":{"name":"Síndrome de microdeleção 5q22","synonyms":["Síndrome del(5)(q22)","Síndrome monossomia 5q22"]},"pl":{"name":"Rodzinna polipowatość gruczolakowata z powodu mikrodelecji 5q22.2","synonyms":["FAP z powodu monosomii 5q22.2","Polipowatość gruczolakowata jelita grubego i odbytnicy z powodu monosomii 5q22.2","Rodzinna polipowatość gruczolakowata z powodu del(5)(q22.2)","Rodzinna polipowatość gruczolakowata z powodu monosomii 5q22.2","Rodzinna polipowatość jelita grubego z powodu monosomii 5q22.2"]},"cs":{"name":"Familiární adenomatózní polypóza způsobená mikrodelecí 5q22.2","synonyms":["Kolorektální adenomatózní polypóza způsobená monozomií 5q22.2","FAP způsobená monozomií 5q22.2","Familiární adenomatózní polypóza způsobená del(5)(q22.2)","Familiární adenomatózní polypóza způsobená monozomií 5q22.2","Familiární polypóza střeva způsobená monozomií 5q22.2"]},"uk":{"name":"Сімейний аденоматозний поліпоз, зумовлений мікроделецією 5q22.2","synonyms":["Аденоматозний поліпоз товстої кишки внаслідок моносомії 5q22.2","Сімейний аденоматозний поліпоз через del(5)(q22.2)","Сімейний аденоматозний поліпоз внаслідок моносомії 5q22.2","Сімейний поліпоз товстої кишки внаслідок моносомії 5q22.2","FAP внаслідок моносомії 5q22.2"]},"zh":{"name":"5q22.2微缺失所致家族性腺瘤性息肉病","synonyms":["5q22.2单体所致结直肠腺瘤性息肉病"]},"tr":{"name":"5q22.2 mikrodelesyonuna bağlı ailesel adenomatöz polipoz","synonyms":["Monozomi 5q22.2 nedeniyle FAP","Monozomi 5q22.2'ye bağlı ailesel polipoz koli","Del (5) (q22.2) 'ye bağlı ailesel adenomatöz polipoz","Monozomi 5q22.2'ye bağlı ailesel adenomatöz polipoz","Monozomi 5q22.2'ye bağlı kolorektal adenomatöz polipoz"]}},"xrefs":[{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.50","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0016860","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5548205","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":104010,"name":"Intestinal polyposis syndrome","classifications":[152,156,202,233]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":262038,"name":"Partial deletion of the long arm of chromosome 5 syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"APC","name":"APC regulator of Wnt signaling pathway","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"20301519[PMID]","hgnc":"583","ensembl":"ENSG00000134982","omim":"611731","loci":["5q22.2"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-01-07","source":"1315124[PMID]_2537430[PMID]_1313112[PMID]_25955461[PMID]_20931355[PMID]_22525412[PMID]_2193168[PMID]_22825279[PMID]","terms":[{"hpo":"HP:0005227","label":"Adenomatous colonic polyposis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011078","label":"Abnormality of canine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000455","label":"Broad nasal tip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007649","label":"Congenital hypertrophy of retinal pigment epithelium","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004783","label":"Duodenal polyposis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010522","label":"Dyslexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002234","label":"Early balding","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200040","label":"Epidermoid cyst","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002584","label":"Intestinal bleeding","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001891","label":"Iron deficiency anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004482","label":"Relative macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000215","label":"Thick upper lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006536","label":"Airway obstruction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003003","label":"Colon cancer","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100245","label":"Desmoid tumors","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002162","label":"Low posterior hairline","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007766","label":"Optic disc hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001115","label":"Posterior polar cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000954","label":"Single transverse palmar crease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002064","label":"Spastic gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002884","label":"Hepatoblastoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100246","label":"Osteoma","frequency":"Very rare (<4-1%)","criteria":null}]}}