{"Name":"Cutaneous mastocytosis","DiseaseID__c":"GARD:0007842","id":7842,"encodedName":"cutaneous-mastocytosis","IsDeleted":false,"Disease_Name_Full__c":"Cutaneous mastocytosis","Xref_IDs__c":"397012002; 703827008; C1136033; C7137; D034701; D47.01; DOID:3663; HP:0200151; MEDGEN:210143; MONDO:0019023; ORPHA:66646","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0019023","Disease_Description__c":"A rare group of mastocytosis diseases characterized by abnormal accumulation and proliferation of mast cells in the skin and including the three recognised forms: diffuse cutaneous mastocytosis, cutaneous mastocytoma and, the most common form, maculopapular cutaneous mastocytosis. In some cases (most commonly in adults), cutaneous mastocytosis may occur in association with mast cell infiltration of various extracutaneous organs, in which case the disorder is referred to as systemic mastocytosis.","GARD_Name__c":"Cutaneous mastocytosis","GARD_Synonym__c":"cm; cutaneous (skin) mastocytosis; cutaneous mastocytosis (disease); mastocytosis, cutaneous; mastocytosis, maculopapular cutaneous; mastocytosis, systemic, somatic","Curated_Disease_Description_Source__c":"GARD:0007842","Curated_Disease_Description__c":"Cutaneous mastocytosis is a form of mastocytosis that primarily affects the skin. There are three main forms of the condition: maculopapular Cutaneous mastocytosis (also called urticaria pigmentosa), solitary cutaneous mastocytoma, and diffuse Cutaneous mastocytosis. There is also an exteremely rare form called telangiectasia macularis eruptiva perstans. The signs, symptoms and severity of the condition vary by subtype. Cutaneous mastocytosis is usually caused by changes in the KIT gene. Most cases are caused by somatic genetic changes which are not inherited or passed on to the next generation. However, it can rarely affect more than one family member and be inherited in an autosomal dominant manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:66646","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019023","ORPHANET_ID__c":"ORPHA:66646","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Mastocitosis cutánea","Spanish_Description_Source__c":"ORPHA:66646","Spanish_Description__c":"Es un grupo poco frecuente de mastocitosis caracterizado por el acúmulo y proliferación anómala de mastocitos en la piel e incluye las tres formas reconocidas: mastocitosis cutánea difusa, mastocitoma cutáneo y, la forma más común, mastocitosis cutánea maculopapular. En algunos casos (más comúnmente en adultos), la mastocitosis cutánea puede ocurrir en asociación con la infiltración de mastocitos de varios órganos extracutáneos, en cuyo caso el trastorno se denomina mastocitosis sistémica.","Spanish_Disease_Name__c":"mastocitosis cutánea","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:89826","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Cutaneous mastocytosis is a form of mastocytosis that primarily affects the skin. There are three main forms of the condition: maculopapular Cutaneous mastocytosis (also called urticaria pigmentosa), solitary cutaneous mastocytoma, and diffuse Cutaneous mastocytosis. There is also an exteremely rare form called telangiectasia macularis eruptiva perstans. The signs, symptoms and severity of the condition vary by subtype. Cutaneous mastocytosis is usually caused by changes in the KIT gene. Most cases are caused by somatic genetic changes which are not inherited or passed on to the next generation. However, it can rarely affect more than one family member and be inherited in an autosomal dominant manner.","Curated_Disease_Description_Source__c":"GARD:0007842","GARD_Synonym__c":"cm; cutaneous (skin) mastocytosis; cutaneous mastocytosis (disease); mastocytosis, cutaneous; mastocytosis, maculopapular cutaneous; mastocytosis, systemic, somatic","Name":"Cutaneous mastocytosis","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Autoimmune Registry","Website__c":"https://www.autoimmuneregistry.org/"},{"Account_Name__c":"The Mast Cell Disease Society","Website__c":"https://tmsforacure.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"Tag_Name__c":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"},{"Tag_Name__c":"Hematology","Tag_Category__c":"Disease Category;Specialist","category_description":"Blood diseases affect the blood or blood-forming organs, including red blood cells, white blood cells, platelets, plasma, and bone marrow.","curated_tag_name":"Blood diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:66646"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1136033"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C034701","Source__c":"C1136033; MONDO:0019023","Xref__c":"D034701"},{"URL__c":"https://www.orpha.net/en/disease/detail/66646","Source__c":"C1136033; MONDO:0019023; ORPHA:66646","Xref__c":"ORPHA:66646"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=210143","Source__c":"C1136033","Xref__c":"MEDGEN:210143"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1136033","Source__c":"C1136033","Xref__c":"C1136033"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A3663","Source__c":"MONDO:0019023","Xref__c":"DOID:3663"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C7137","Source__c":"C1136033; MONDO:0019023","Xref__c":"C7137"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=397012002","Source__c":"C1136033; MONDO:0019023","Xref__c":"397012002"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0200151","Source__c":"C1136033","Xref__c":"HP:0200151"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=703827008","Source__c":"C1136033","Xref__c":"703827008"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/D47.01","Source__c":"MONDO:0019023","Xref__c":"D47.01"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019023","Source__c":"GARD:0007842","Xref__c":"MONDO:0019023"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"KIT","GHR_URL__c":"https://medlineplus.gov/genetics/gene/kit","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"tags":{"Specialist":["Cancer - Oncologist","Dermatology","Hematology","Pediatrics"],"Disease Category":["Cancer","Dermatology","Hematology"],"Account":["Dermatology"]},"synonyms":["cm"," cutaneous (skin) mastocytosis"," cutaneous mastocytosis (disease)"," mastocytosis, cutaneous"," mastocytosis, maculopapular cutaneous"," mastocytosis, systemic, somatic"]}