{"orpha":1334,"name":"Chronic mucocutaneous candidiasis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CMC"],"definition":"A rare primary immunodeficiency characterized by persistent, debilitating and/or recurrent infections of the skin, nails, and mucus membranes, mainly with the fungal pathogen <i>Candida albicans</i>.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1334/","orphanet_url":"https://www.orpha.net/en/disease/detail/1334","names":{"fr":{"name":"Candidose cutanéo-muqueuse chronique","synonyms":["CMC"],"definition":"Déficit immunitaire primaire rare caractérisé par des infections persistantes, invalidantes et/ou récurrentes de la peau, des ongles et des membranes muqueuses, causées par le <i>Candida albicans</i>."},"de":{"name":"Candidose, chronische mukokutane","synonyms":["CMC"],"definition":"Ein seltener primärer Immundefekt, der durch anhaltende, beeinträchtigende und/oder wiederkehrende Infektionen der Haut, der Nägel und der Schleimhäute gekennzeichnet ist, hauptsächlich durch den Pilz <i>Candida albicans</i>."},"es":{"name":"Candidiasis crónica familiar","definition":"Es una inmunodeficiencia primaria poco frecuente caracterizada por infecciones persistentes, debilitantes y/o recurrentes de la piel, las uñas y la membrana mucosa, principalmente por el patógeno fúngico <i>Candida albicans</i>."},"it":{"name":"Candidiasi cronica mucocutanea","synonyms":["CMC"]},"nl":{"name":"Chronische mucocutane candidiasis","synonyms":["CMC","Chronische mucocutane candidose"],"definition":"Een zeldzame primaire immuundeficiëntie, gekenmerkt door aanhoudende, invaliderende en/of recidiverende infecties van huid, nagels en slijmvliezen, voornamelijk door de pathogene schimmel <i>Candida albicans</i>."},"pt":{"name":"Candidíase mucocutânea crónica","synonyms":["CMC"]},"pl":{"name":"Przewlekła kandydoza błon śluzowych i skóry","synonyms":["CMC","Przewlekła kandydoza śluzowo-skórna"],"definition":"Rzadki pierwotny niedobór odporności, który charakteryzuje się uporczywymi, wyniszczającymi i/lub nawracającymi zakażeniami skóry, paznokci i błon śluzowych, wywoałymi głównie przez patogen grzybiczy Candida albicans."},"cs":{"name":"Chronická mukokutánní kandidóza","synonyms":["CMC"]},"uk":{"name":"Хронічний кандидоз слизових оболонок","synonyms":["CMC"],"definition":"A rare primary immunodeficiency characterized by persistent, debilitating and/or recurrent infections of the skin, nails, and mucus membranes, mainly with the fungal pathogen <i>Candida albicans</i>."},"zh":{"name":"慢性粘膜皮肤念珠菌病","synonyms":["CMC"]},"tr":{"name":"Kronik mukokutanöz kandidiyaz","synonyms":["CMC"]}},"xrefs":[{"source":"OMIM","code":"114580","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"247650","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"252250","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"607644","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613108","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613953","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613956","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615527","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616445","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"B37.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"1F23.14","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"2120780687"},{"source":"MONDO","code":"0015279","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D002178","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0006845","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1077","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10009007","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":183494,"name":"Genetic immune deficiency with skin involvement","classifications":[156]},{"orpha":183710,"name":"Genetic susceptibility to infections due to particular pathogens","classifications":[156,195]},{"orpha":79391,"name":"Immune deficiency with skin involvement","classifications":[187]}],"children":[],"genes":[{"symbol":"IL17RC","name":"interleukin 17 receptor C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"25918342[PMID]","hgnc":"18358","ensembl":"ENSG00000163702","omim":"610925","loci":["3p25.3"]},{"symbol":"CLEC7A","name":"C-type lectin domain containing 7A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19864674[PMID]","hgnc":"14558","ensembl":"ENSG00000172243","omim":"606264","loci":["12p13.2"]},{"symbol":"IL17F","name":"interleukin 17F","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21350122[PMID]","hgnc":"16404","ensembl":"ENSG00000112116","omim":"606496","loci":["6p12.2"]},{"symbol":"IL17RA","name":"interleukin 17 receptor A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21350122[PMID]","hgnc":"5985","ensembl":"ENSG00000177663","omim":"605461","loci":["22q11.1"]},{"symbol":"TRAF3IP2","name":"TRAF3 interacting protein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24120361[PMID]","hgnc":"1343","ensembl":"ENSG00000056972","omim":"607043","loci":["6q21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Childhood","Infancy"],"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:0001231","label":"Abnormal fingernail morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000159","label":"Abnormal lip morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001597","label":"Abnormal nail morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008388","label":"Abnormal toenail morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002715","label":"Abnormality of the immune system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000153","label":"Abnormality of the mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000951","label":"Abnormality of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001821","label":"Broad nail","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100825","label":"Cheilitis","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:0002719","label":"Recurrent infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000988","label":"Skin rash","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000142","label":"Abnormality of the vagina","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030016","label":"Dyspareunia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200034","label":"Papule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000682","label":"Abnormality of dental enamel","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004370","label":"Abnormality of temperature regulation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004306","label":"Abnormality of the endocardium","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000504","label":"Abnormality of vision","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012735","label":"Cough","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000790","label":"Hematuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002105","label":"Hemoptysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012115","label":"Hepatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000010","label":"Recurrent urinary tract infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null}]}}