{"Name":"Cutaneous neuroendocrine carcinoma","DiseaseID__c":"GARD:0009266","id":9266,"encodedName":"cutaneous-neuroendocrine-carcinoma","IsDeleted":false,"Disease_Name_Full__c":"Cutaneous neuroendocrine carcinoma","Xref_IDs__c":"253001006; C0007129; C4A; C9231; D015266; MEDGEN:2843; MONDO:0019210; ORPHA:79140","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0019210","Disease_Description__c":"A rare aggressive skin cancer characterized by a rapidly growing nodule with both epithelial and neuroendocrine features, driven in 80% of cases by the oncogenic Merkel cell polyomavirus (MCPyV).","GARD_Name__c":"Cutaneous neuroendocrine carcinoma","GARD_Synonym__c":"anaplastic carcinoma of the skin; apudoma of skin; carcinoma of merkel cell; cutaneous apudoma; mcc; merkel cell cancer; merkel cell cancer of the skin; merkel cell carcinoma; merkel cell skin cancer; merkel cell tumor; merkel cell tumour; neuroendocrine carcinoma of skin; neuroendocrine carcinoma of the skin; neuroendocrine skin carcinoma; neuroendocrine tumor of the skin; neuroendocrine tumour of the skin; primary cutaneous neuroendocrine carcinoma; primary small cell carcinoma of the skin; primary undifferentiated carcinoma of the skin; trabecular cancer; trabecular skin carcinoma","Curated_Disease_Description_Source__c":"GARD:0009266","Curated_Disease_Description__c":"Cutaneous neuroendocrine carcinoma is a rare, aggressive skin cancer. It usually develops as a single, painless, bump on sun-exposed skin. The bump may be skin-colored or red-violet, and tends to grow rapidly over weeks to months. It may spread quickly to surrounding tissues, nearby lymph nodes, or more distant parts of the body. Factors associated with developing cutaneous neuroendocrine carcinoma include increasing age, fair skin, a history of extensive sun exposure, chronic immune suppression, and the Merkel cell polyomavirus. The Merkel cell polyomavirus has been detected in most people who have cutaneous neuroendocrine carcinoma.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as an Adult and as an Older Adult","SourceID__c":"ORPHA:79140","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019210","ORPHANET_ID__c":"ORPHA:79140","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Carcinoma neuroendocrino cutáneo","Spanish_Description_Source__c":"ORPHA:79140","Spanish_Description__c":"Es un cáncer de piel poco frecuente y agresivo caracterizado por un nódulo de rápido crecimiento con características epiteliales y neuroendocrinas, provocado en el 80% de los casos por el poliomavirus de células de Merkel (PCM).","Spanish_Disease_Name__c":"carcinoma neuroendocrino cutáneo","Spanish_GARD_Synonym__c":"carcinoma de células de merkel (mcc)","Category_Linearization__c":"ORPHA:250908","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 neuroendocrine carcinoma is a rare, aggressive skin cancer. It usually develops as a single, painless, bump on sun-exposed skin. The bump may be skin-colored or red-violet, and tends to grow rapidly over weeks to months. It may spread quickly to surrounding tissues, nearby lymph nodes, or more distant parts of the body. Factors associated with developing cutaneous neuroendocrine carcinoma include increasing age, fair skin, a history of extensive sun exposure, chronic immune suppression, and the Merkel cell polyomavirus. The Merkel cell polyomavirus has been detected in most people who have cutaneous neuroendocrine carcinoma.","Curated_Disease_Description_Source__c":"GARD:0009266","GARD_Synonym__c":"anaplastic carcinoma of the skin; apudoma of skin; carcinoma of merkel cell; cutaneous apudoma; mcc; merkel cell cancer; merkel cell cancer of the skin; merkel cell carcinoma; merkel cell skin cancer; merkel cell tumor; merkel cell tumour; neuroendocrine carcinoma of skin; neuroendocrine carcinoma of the skin; neuroendocrine skin carcinoma; neuroendocrine tumor of the skin; neuroendocrine tumour of the skin; primary cutaneous neuroendocrine carcinoma; primary small cell carcinoma of the skin; primary undifferentiated carcinoma of the skin; trabecular cancer; trabecular skin carcinoma","Name":"Cutaneous neuroendocrine carcinoma","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Neuroendocrine Tumor Research Foundation","Website__c":"https://netrf.org/"},{"Account_Name__c":"American Cancer Society","Website__c":"https://www.cancer.org"},{"Account_Name__c":"Cancer Hope Network","Website__c":"https://www.cancerhopenetwork.org/"},{"Account_Name__c":"Rare Cancer Alliance","Website__c":"https://www.rare-cancer.org/"},{"Account_Name__c":"CancerCare","Website__c":"https://www.cancercare.org/"},{"Account_Name__c":"The Skin Cancer Foundation","Website__c":"https://www.skincancer.org/"},{"Account_Name__c":"Cancer.net","Website__c":"https://www.cancer.net/"},{"Account_Name__c":"merkelcell.org","Website__c":"https://merkelcell.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":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine diseases"},{"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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:79140"},{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:79140"}],"External_Identifier_Disease__c":[{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C9231","Source__c":"C0007129; MONDO:0019210","Xref__c":"C9231"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=253001006","Source__c":"C0007129; MONDO:0019210","Xref__c":"253001006"},{"URL__c":"https://www.orpha.net/en/disease/detail/79140","Source__c":"C0007129; MONDO:0019210; ORPHA:79140","Xref__c":"ORPHA:79140"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=2843","Source__c":"C0007129","Xref__c":"MEDGEN:2843"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0007129","Source__c":"C0007129","Xref__c":"C0007129"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C015266","Source__c":"C0007129; MONDO:0019210","Xref__c":"D015266"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/C4A","Source__c":"MONDO:0019210","Xref__c":"C4A"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0030447","Source__c":"C0007129","Xref__c":"HP:0030447"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=254729005","Source__c":"C0007129","Xref__c":"254729005"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019210","Source__c":"GARD:0009266","Xref__c":"MONDO:0019210"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=5052009","Source__c":"C0007129","Xref__c":"5052009"},{"URL__c":"https://www.cancer.gov/types/skin/patient/merkel-cell-treatment-pdq"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:79140","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200036","HPO_Synonym__c":"Growth of abnormal tissue on or under the skin","HPO_Name__c":"Skin nodule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79140","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A tumor formed from the endocrine (argentaffin) cells of the mucosal lining of a variety of organs including the stomach and intestine. These cells are from neuroectodermal origin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100570","HPO_Synonym__c":"Carcinoid","HPO_Name__c":"Carcinoid tumor","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79140","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the skin that is restricted to a particular body region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011356","HPO_Name__c":"Regional abnormality of skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79140","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A chronic form of lymphadenopathy that is not related to infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002730","HPO_Name__c":"Chronic noninfectious lymphadenopathy","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79140","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An anomaly detectable in [18F]-fluorodeoxyglucose (FDG) positron emission tomography (PET) brain scans. Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012658","HPO_Synonym__c":"Abnormal brain FDG PET scan","HPO_Name__c":"Abnormal brain FDG positron emission tomography","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Imaging_PET"}},{"Provided_By__c":"ORPHA:79140","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A malignant lymphocytic neoplasm of B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. This category includes precursor or acute lymphoblastic leukemias and chronic leukemias.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005526","HPO_Name__c":"Lymphoid leukemia","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79140","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000992","HPO_Synonym__c":"Photosensitive skin; Photosensitive skin rashes; Photosensitivity; Sensitivity to sunlight; Skin photosensitivity; Sun sensitivity","HPO_Name__c":"Cutaneous photosensitivity","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79140","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a basal cell carcinoma of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002671","HPO_Synonym__c":"Basal cell carcinomas; Basal cell epithelioma; Basal cell nevus; Basalioma","HPO_Name__c":"Basal cell carcinoma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79140","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Squamous cell carcinoma of the skin is a malignant tumor of squamous epithelium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006739","HPO_Synonym__c":"Squamous skin carcinoma","HPO_Name__c":"Squamous cell carcinoma of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79140","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An immunodeficiency characterized by defective cell-mediated immunity or humoral immunity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005374","HPO_Name__c":"Cellular immunodeficiency","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79140","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A macule (flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin) with a red or reddish color often associated with inflammation or irritation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025475","HPO_Name__c":"Erythematous macule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79140","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the outer ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040095","HPO_Synonym__c":"Outer ear tumor","HPO_Name__c":"Neoplasm of the outer ear","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79140","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A plaque (a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter) with a red or reddish color often associated with inflammation or irritation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025474","HPO_Name__c":"Erythematous plaque","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79140","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"A malignant cutaneous tumor of the elderly that is characterized by an aggressive course with regional nodal involvement, distant metastases and a high rate of recurrence. Most patients present with rapidly growing, painless, firm, non-tender, dome-shaped red, occasionally ulcerated skin nodules, which have a red or bluish color, measuring up to several centimeters, on predominantly sun-exposed areas of the body. The overlying skin is smooth and shiny, sometimes exhibiting ulcerative, acneiform or telangiectatic features.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030447","HPO_Synonym__c":"Anaplastic carcinoma of the skin; Cutaneous APUDoma; Merkel cell cancer of the skin; Neuroendocrine carcinoma of the skin; Neuroendocrine tumor of the skin; Primary small cell carcinoma of the skin; Primary undifferentiated carcinoma of the skin","HPO_Name__c":"Merkel cell skin cancer","Feature_System__c":"Skin System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79140","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A malignant plasma cell tumor growing within soft tissue or within the skeleton.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006775","HPO_Name__c":"Multiple myeloma","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79140","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012531","HPO_Synonym__c":"Pain","HPO_Name__c":"Pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79140","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A benign or malignant neoplasm that arises from or metastasizes to the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030692","HPO_Synonym__c":"Brain tumor","HPO_Name__c":"Brain neoplasm","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Endocrine","Dermatology"],"Disease Category":["Cancer","Endocrine","Dermatology"],"Account":["Dermatology"]},"synonyms":["anaplastic carcinoma of the skin"," apudoma of skin"," carcinoma of merkel cell"," cutaneous apudoma"," mcc"," merkel cell cancer"," merkel cell cancer of the skin"," merkel cell carcinoma"," merkel cell skin cancer"," merkel cell tumor"," merkel cell tumour"," neuroendocrine carcinoma of skin"," neuroendocrine carcinoma of the skin"," neuroendocrine skin carcinoma"," neuroendocrine tumor of the skin"," neuroendocrine tumour of the skin"," primary cutaneous neuroendocrine carcinoma"," primary small cell carcinoma of the skin"," primary undifferentiated carcinoma of the skin"," trabecular cancer"," trabecular skin carcinoma"]}