{"orpha":228277,"name":"Familial anetoderma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hereditary anetoderma","Hereditary macular atrophy"],"definition":"Familial anetoderma is an extremely rare genetic skin disease characterized by loss of elastin tissue leading to localized areas of flaccid skin and a family history of the disorder.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-228277/","orphanet_url":"https://www.orpha.net/en/disease/detail/228277","names":{"fr":{"name":"Anétodermie familiale","synonyms":["Anétodermie héréditaire","Atrophie maculaire familiale","Atrophie maculaire héréditaire"],"definition":"Maladie génétique extrêmement rare de la peau caractérisée par une perte de tissu élastique entraînant des zones localisées de relâchement de la peau en présence d'antécédents familiaux de la maladie."},"de":{"name":"Anetodermie, familiäre","synonyms":["Anetodermie, hereditäre","Makulaatrophie, hereditäre"]},"es":{"name":"Anetodermia familiar","synonyms":["Anetodermia hereditaria","Atrofia macular hereditaria"],"definition":"Es una enfermedad cutánea genética muy poco frecuente caracterizada por la pérdida de tejido elástico dérmico que ocasiona áreas localizadas de piel laxa en la que existe una historia familiar de este proceso."},"it":{"name":"Anetoderma familiare","synonyms":["Anetoderma ereditario","Atrofia maculare ereditaria"],"definition":"L'anetoderma familiare è una malattia cutanea molto rara, caratterizzata dalla perdita di tessuto elastico che esita nella comparsa di aree localizzate di cute flaccida, in presenza di una storia familiare positiva per la malattia."},"nl":{"name":"Familiale anetodermie","synonyms":["Erfelijke anetodermie","Erfelijke macula-atrofie"],"definition":"Familiale anetodermie is een uiterst zeldzame, genetische huidziekte die gekarakteriseerd wordt door verlies van elastineweefsel, wat leidt tot gelokaliseerde gebieden met slappe huid, en een familiale geschiedenis van de stoornis."},"pt":{"name":"Anetoderma familiar"},"pl":{"name":"Rodzinny zanik skórny plackowaty","synonyms":["Dziedziczny zanik plamki","Dziedziczny zanik skórny plackowaty"]},"cs":{"name":"Familiární anetoderma","synonyms":["Hereditární anetoderma","Hereditární makulární atrofie"]},"uk":{"name":"Сімейна анетодермія","synonyms":["Спадкова анетодермія","Спадкова макулярна атрофія"],"definition":"Familial anetoderma is an extremely rare genetic skin disease characterized by loss of elastin tissue leading to localized areas of flaccid skin and a family history of the disorder."},"zh":{"name":"家族性皮肤松垂","synonyms":["遗传性斑状萎缩"],"definition":"家族性皮肤松垂是一种极罕见的遗传性皮肤病，其特征是弹性蛋白组织缺失导致局部皮肤松弛，并有家族病史。"},"tr":{"name":"ailesel anetoderma","synonyms":["Kalıtsal anetoderma","Kalıtsal maküler atrofi"]}},"xrefs":[{"source":"ICD-10","code":"L90.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EE41.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"308286033"},{"source":"MONDO","code":"0016445","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518793","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":228215,"name":"Genetic dermis elastic tissue disorder","classifications":[156,187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":12.0,"area":"Worldwide","status":"Validated","source":"21719400[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_21719400[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-11-07","source":"15318943[PMID]","terms":[{"hpo":"HP:0200034","label":"Papule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002992","label":"Abnormality of tibia morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002761","label":"Generalized joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040079","label":"Irregular dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002938","label":"Lumbar hyperlordosis","frequency":"Frequent (79-30%)","criteria":null}]}}