{"orpha":316,"name":"Progressive symmetric erythrokeratodermia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Darier-Gottron disease","Erythrokeratodermia progressiva symmetrica","Progressive symmetric erythrokeratodermia, Gottron type"],"definition":null,"note":"This disease is described under Erythrokeratoderma variabilis progressiva","url":"https://raremap.alftech.space/d/ORPHA-316/","orphanet_url":"https://www.orpha.net/en/disease/detail/316","names":{"fr":{"name":"Erythrokératodermie progressive et symétrique","synonyms":["Erythrokératodermie progressive et symétrique type Gottron","Maladie de Darier-Gottron","PSEK"]},"de":{"name":"Erythrokeratodermie, progressive symmetrische","synonyms":["Darier-Gottron-Krankheit","Erythrokeratodermia progressiva symmetrica","Progressive symmetrische Erythrokeratodermie Typ Gottron"]},"es":{"name":"Eritroqueratodermia simétrica progresiva","synonyms":["Enfermedad de Darier-Gottron","Eritroqueratodermia progresiva simétrica tipo Gottron"]},"it":{"name":"Eritrocheratodermia simmetrica progressiva","synonyms":["Eritrocheratodermia simmetrica progressiva, tipo Gottron","Malattia di Darier-Gottron"]},"nl":{"name":"Erytrokeratodermia progressiva symmetrica","synonyms":["Progressieve symmetrische erytrokeratodermie, Gottron-type","Progressiva symmetrica erytrokeratodermia","Ziekte van Darier-Gottron"]},"pt":{"name":"Eritroqueratodermia simétrica progressiva","synonyms":["Doença de Darier-Gottron"]},"pl":{"name":"Postępująca erytrokeratodermia symetryczna","synonyms":["Choroba Darier i Gottrona","Postępująca erytrokeratodermia symetryczna","Postępująca erytrokeratodermia symetryczna, typ Gottrona"]},"cs":{"name":"Progresivní symetrická erytrokeratodermie","synonyms":["Darier-Gottronova nemoc","Erythrokeratodermia progressiva symmetrica","Profresivní symetrická erytrokeratodermie, Gottronův typ"]},"uk":{"name":"Прогресуюча симетрична еритрокератодермія","synonyms":["Хвороба Дарє-Готтрона","Еритрокератодермія прогресуюча симетрична","Прогресуюча симетрична еритрокератодермія, тип Готтрона"]},"zh":{"name":"进行性对称性红斑角化病","synonyms":["进行性对称性红斑角化病Gottron型"]},"tr":{"name":"İlerleyici simetrik eritrokeratodermi","synonyms":["Darier-Gottron hastalığı","Eritrokeratodermi progresiva simetrika","İlerleyici simetrik eritrokeratodermi, Gottron tipi"]}},"xrefs":[{"source":"OMIM","code":"617756","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618531","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619209","qualifier":"BTNT","icd_relation":null,"validated":false},{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC20.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"200732645"}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":98352,"name":"Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature","classifications":[156,187]},{"orpha":308166,"name":"Erythrokeratoderma variabilis progressiva","classifications":[156,187]}],"children":[],"genes":[{"symbol":"LORICRIN","name":"loricrin cornified envelope precursor protein","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":null,"hgnc":"6663","ensembl":"ENSG00000203782","omim":"152445","loci":["1q21.3"]},{"symbol":"TRPM4","name":"transient receptor potential cation channel subfamily M member 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"30528822[PMID]","hgnc":"17993","ensembl":"ENSG00000130529","omim":"606936","loci":["19q13.33"]},{"symbol":"KDSR","name":"3-ketodihydrosphingosine reductase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"28575652[PMID]","hgnc":"4021","ensembl":"ENSG00000119537","omim":"136440","loci":["18q21.33"]},{"symbol":"KRT83","name":"keratin 83","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"27965375[PMID]","hgnc":"6460","ensembl":"ENSG00000170523","omim":"602765","loci":["12q13.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0010783","label":"Erythema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000982","label":"Palmoplantar keratoderma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200035","label":"Skin plaque","frequency":"Very frequent (99-80%)","criteria":null}]}}