{"orpha":79457,"name":"Maculopapular cutaneous mastocytosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Urticaria pigmentosa"],"definition":"Maculopapular cutaneous mastocytosis (MCM) is a form of cutaneous mastocytosis (CM) characterized by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79457/","orphanet_url":"https://www.orpha.net/en/disease/detail/79457","names":{"fr":{"name":"Mastocytose cutanée maculopapulaire","synonyms":["Urticaire pigmentaire"],"definition":"Forme de mastocytose cutanée (MC) caractérisée par la présence de multiples macules, papules ou nodules hyperpigmentés associés à une accumulation anormale de mastocytes dans la peau."},"de":{"name":"Mastozytose, kutane makulopapuläre","definition":"Die makulopapuläre kutane Mastozytose (MCM) ist eine Form der kutanen Mastozytose (CM; siehe dort), die durch das Vorhandensein von multiplen hyperpigmentierten Maculae, Papeln oder Knötchen gekennzeichnet ist, die mit einer abnormen Ansammlung von Mastzellen in der Haut einhergehen."},"es":{"name":"Mastocitosis cutánea maculopapular","synonyms":["Urticaria pigmentaria","Urticaria pigmentosa"],"definition":"La mastocitosis cutánea maculopapular (MCM) es una forma de mastocitosis cutánea (MC) caracterizada por la presencia de múltiples máculas, pápulas o nódulos hiperpigmentados asociados a un acúmulo anómalo de mastocitos en la piel."},"it":{"name":"Mastocitosi cutanea maculopapulosa","synonyms":["Orticaria pigmentosa"]},"nl":{"name":"Maculopapulaire cutane mastocytose","synonyms":["Urticaria pigmentosa"],"definition":"Maculopapulaire cutane mastocytose (MCM) is een vorm van cutane mastocytose (CM; zie deze term) die wordt gekarakteriseerd door de aanwezigheid van meerdere hypergepigmenteerde maculae, papels of noduli geassocieerd met abnormale accumulatie van mestcellen in de huid."},"pt":{"name":"Mastocitose cutânea maculopapular","synonyms":["Urticária pigmentosa"]},"pl":{"name":"plamisto-grudkowa mastocytoza skórna","synonyms":["Pokrzywka barwnikowa"]},"cs":{"name":"Makulopapulární kožní mastocytóza","synonyms":["Urticaria pigmentosa"]},"uk":{"name":"Макулопапульозний шкірний мастоцитоз","synonyms":["Пігментна кропивянка"],"definition":"Maculopapular cutaneous mastocytosis (MCM) is a form of cutaneous mastocytosis (CM; see this term) characterized by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin."},"zh":{"name":"色素性荨麻疹","synonyms":["色素性荨麻疹"]},"tr":{"name":"Makülopapüler kutanöz mastositoz","synonyms":["Ürtiker pigmentosa"]}},"xrefs":[{"source":"OMIM","code":"154800","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.2","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"2A21.10","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"245322245"},{"source":"MONDO","code":"0019316","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D014582","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0042111","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10046752","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":66646,"name":"Cutaneous mastocytosis","classifications":[187,194,202]}],"children":[{"orpha":158772,"name":"Nodular urticaria pigmentosa","type":"Clinical subtype"},{"orpha":158769,"name":"Plaque-form urticaria pigmentosa","type":"Clinical subtype"},{"orpha":90389,"name":"Telangiectasia macularis eruptiva perstans","type":"Clinical subtype"},{"orpha":158766,"name":"Typical urticaria pigmentosa","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"KIT","name":"KIT proto-oncogene, receptor tyrosine kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"6342","ensembl":"ENSG00000157404","omim":"164920","loci":["4q12"],"via":{"orpha":90389,"name":"Telangiectasia macularis eruptiva perstans"}},{"symbol":"KIT","name":"KIT proto-oncogene, receptor tyrosine kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11505412[PMID]","hgnc":"6342","ensembl":"ENSG00000157404","omim":"164920","loci":["4q12"],"via":{"orpha":158766,"name":"Typical urticaria pigmentosa"}},{"symbol":"KIT","name":"KIT proto-oncogene, receptor tyrosine kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11505412[PMID]","hgnc":"6342","ensembl":"ENSG00000157404","omim":"164920","loci":["4q12"],"via":{"orpha":158769,"name":"Plaque-form urticaria pigmentosa"}},{"symbol":"KIT","name":"KIT proto-oncogene, receptor tyrosine kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11505412[PMID]","hgnc":"6342","ensembl":"ENSG00000157404","omim":"164920","loci":["4q12"],"via":{"orpha":158772,"name":"Nodular urticaria pigmentosa"}}],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET_25662299[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-11-26","source":"34335590[PMID]_33393144[PMID]_33068315[PMID]","terms":[{"hpo":"HP:0025081","label":"Darier's sign","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011354","label":"Generalized abnormality of skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010783","label":"Erythema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012733","label":"Macule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025507","label":"Yellow papule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0020172","label":"Adverse drug response","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002653","label":"Bone pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011971","label":"Dermatographic urticaria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031284","label":"Flushing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031901","label":"Increased serum mast cell beta-tryptase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002018","label":"Nausea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100845","label":"Anaphylactic shock","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Very rare (<4-1%)","criteria":null}]}}