{"orpha":317,"name":"Erythrokeratodermia variabilis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["EKV","Erythrokeratodermia variabilis, Mendes da Costa type"],"definition":null,"note":"This disease is described under Erythrokeratoderma variabilis progressiva","url":"https://raremap.alftech.space/d/ORPHA-317/","orphanet_url":"https://www.orpha.net/en/disease/detail/317","names":{"fr":{"name":"Erythrokératodermie variable","synonyms":["EKV","Erythrokératodermie variable type Mendes da Costa"]},"de":{"name":"Erythrokeratodermia variabilis","synonyms":["EKV","Erythrokeratoderma variabilis Typ Mendes da Costa"]},"es":{"name":"Eritroqueratodermia variable","synonyms":["EKV","Eritroqueratodermia variable tipo Mendes da Costa"]},"it":{"name":"Eritrocheratodermia variabilis","synonyms":["EKV","Eritrocheratodermia variabilis, tipo Mendes da Costa"]},"nl":{"name":"Erythrokeratodermia variabilis","synonyms":["EKV","Erythrokeratodermia variabilis, Mendes da 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tipi"]}},"xrefs":[{"source":"OMIM","code":"133200","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617524","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617525","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617526","qualifier":"BTNT","icd_relation":null,"validated":true},{"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":"551200965"},{"source":"MONDO","code":"0017851","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D056266","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265961","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10049048","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":308166,"name":"Erythrokeratoderma variabilis progressiva","classifications":[156,187]},{"orpha":281082,"name":"Inherited non-syndromic ichthyosis","classifications":[156,187]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[{"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":"GJA1","name":"gap junction protein alpha 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25398053[PMID]","hgnc":"4274","ensembl":"ENSG00000152661","omim":"121014","loci":["6q22.31"]},{"symbol":"GJB3","name":"gap junction 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000","value":0.0,"area":"Worldwide","status":"Validated","source":"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:0000992","label":"Cutaneous photosensitivity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010783","label":"Erythema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001034","label":"Hypermelanotic macule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012733","label":"Macule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent 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(79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001597","label":"Abnormal nail morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000035","label":"Abnormal testis morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002230","label":"Generalized hirsutism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008069","label":"Neoplasm of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Occasional (29-5%)","criteria":null}]}}