{"orpha":46488,"name":"Linear IgA dermatosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, acquired autoimmune bullous skin disease characterized by annular, grouped blisters on the skin and, frequently, mucous membranes with linear deposition of immunoglobulin A along the basement membrane zone (BMZ).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-46488/","orphanet_url":"https://www.orpha.net/en/disease/detail/46488","names":{"fr":{"name":"Dermatose à IgA linéaire","definition":"Maladie cutanée bulleuse auto-immune acquise et rare, caractérisée par des vésicules disposées en rosettes sur la peau et, souvent, sur les muqueuses, et un dépôt linéaire d'immunoglobuline A le long de la zone de la membrane basale (BMZ)."},"de":{"name":"IgA-Dermatose, lineare","definition":"Eine seltene erworbene bullöse Autoimmunerkrankung der Haut, die durch ringförmige, gruppierte Bläschen auf der Haut und häufig auch auf den Schleimhäuten mit linearer Ablagerung von Immunglobulin A entlang der Basalmembranzone (BMZ) gekennzeichnet ist."},"es":{"name":"Dermatosis IgA linear","definition":"Es una enfermedad cutánea ampollosa autoinmune adquirida poco frecuente caracterizada por la aparición de ampollas agrupadas de forma anular en la piel y, con frecuencia, en las mucosas, presentando un depósito lineal de inmunoglobulina A a lo largo de la zona de la membrana basal (ZMB)."},"it":{"name":"Dermatosi da IgA lineari","definition":"La dermatosi da IgA lineari (LAD) è una malattia cutanea bollosa autoimmune acquisita rara, caratterizzata da vesciche anulari raggruppate localizzate sulla cute e, spesso sulle mucose, con depositi lineari di immunoglobuline A nella membrana basale."},"nl":{"name":"Lineaire IgA-dermatose","definition":"Een zeldzame, verworven auto-immune bulleuze huidziekte, gekarakteriseerd door ringvormige, gegroepeerde blaren op huid en vaak ook op slijmvlies, met lineaire afzetting van immunoglobuline A langs basale membraan."},"pt":{"name":"Dermatose por acumulação linear de IgA"},"pl":{"name":"Linijna dermatoza IgA"},"cs":{"name":"Lineární IgA bulózní dermatóza"},"uk":{"name":"Лінійний IgA дерматоз","definition":"A rare, acquired autoimmune bullous skin disease characterized by annular, grouped blisters on the skin and, frequently, mucous membranes with linear deposition of immunoglobulin A along the basement membrane zone (BMZ)."},"zh":{"name":"线性IgA皮肤病"},"tr":{"name":"Lineer IgA dermatoz"}},"xrefs":[{"source":"ICD-10","code":"L13.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EB42","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1802341051"},{"source":"MONDO","code":"0018748","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D062027","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0406650","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10024515","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79669,"name":"Autoimmune bullous skin disease","classifications":[187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1,"area":"Germany","status":"Validated","source":"19170813[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.069,"area":"Kuwait","status":"Validated","source":"15569006[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.026,"area":"Singapore","status":"Validated","source":"12207586[PMID]_23237497[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.3,"area":"Germany","status":"Validated","source":"19170813[PMID]_30252369[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.207,"area":"Kuwait","status":"Validated","source":"15569006[PMID]_30252369[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.078,"area":"Singapore","status":"Validated","source":"12207586[PMID]_23237497[PMID]_30252369[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200034","label":"Papule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:4000028","label":"Anti-LABD97 antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000155","label":"Oral ulcer","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:4000027","label":"anti-LAD-1 antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009725","label":"Bladder neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000421","label":"Epistaxis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002037","label":"Inflammation of the large intestine","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009726","label":"Renal neoplasm","frequency":"Occasional (29-5%)","criteria":null}]}}