{"Name":"Familial melanoma","DiseaseID__c":"GARD:0003460","id":3460,"encodedName":"familial-melanoma","IsDeleted":false,"Disease_Name_Full__c":"Familial melanoma","Xref_IDs__c":"C1512419; C8498; DOID:6846; MEDGEN:268851; MONDO:0018961; ORPHA:618","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018961","Disease_Description__c":"Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family.","GARD_Name__c":"Familial melanoma","GARD_Synonym__c":"hereditary cutaneous melanoma; hereditary melanoma; hereditary melanoma (disease)","Curated_Disease_Description_Source__c":"MEDGEN:C2314896","Curated_Disease_Description__c":"Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. This cancer typically occurs in areas that are only occasionally sun-exposed; tumors are most commonly found on the back in men and on the legs in women. Melanoma usually occurs on the skin (cutaneous melanoma), but in about 5 percent of cases it develops in melanocytes in other tissues, including the eyes (uveal melanoma) or mucous membranes that line the body's cavities, such as the moist lining of the mouth (mucosal melanoma). Melanoma can develop at any age, but it most frequently occurs in people in their fifties to seventies and is becoming more common in teenagers and young adults.  Melanoma may develop from an existing mole or other normal skin growth that becomes cancerous (malignant); however, many melanomas are new growths. Melanomas often have ragged edges and an irregular shape. They can range from a few millimeters to several centimeters across. They can also be a variety of colors: brown, black, red, pink, blue, or white.  Most melanomas affect only the outermost layer of skin (the epidermis). If a melanoma becomes thicker and involves multiple layers of skin, it can spread to other parts of the body (metastasize).  A large number of moles or other pigmented skin growths on the body, generally more than 25, is associated with an increased risk of developing melanoma. Melanoma is also a common feature of genetic syndromes affecting the skin such as xeroderma pigmentosum. Additionally, individuals who have previously had melanoma are nearly nine times more likely than the general population to develop melanoma again. It is estimated that about 90 percent of individuals with melanoma survive at least 5 years after being diagnosed.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:618","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018961","ORPHANET_ID__c":"ORPHA:618","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Melanoma familiar","Spanish_Description_Source__c":"ORPHA:618","Spanish_Description__c":"Es una forma de melanoma hereditario poco frecuente caracterizado por el desarrollo de un melanoma confirmado histológicamente en dos o más familiares de primer grado en una misma familia.","Spanish_Disease_Name__c":"melanoma familiar","Spanish_GARD_Synonym__c":null,"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":"Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. This cancer typically occurs in areas that are only occasionally sun-exposed; tumors are most commonly found on the back in men and on the legs in women. Melanoma usually occurs on the skin (cutaneous melanoma), but in about 5 percent of cases it develops in melanocytes in other tissues, including the eyes (uveal melanoma) or mucous membranes that line the body's cavities, such as the moist lining of the mouth (mucosal melanoma). Melanoma can develop at any age, but it most frequently occurs in people in their fifties to seventies and is becoming more common in teenagers and young adults.  Melanoma may develop from an existing mole or other normal skin growth that becomes cancerous (malignant); however, many melanomas are new growths. Melanomas often have ragged edges and an irregular shape. They can range from a few millimeters to several centimeters across. They can also be a variety of colors: brown, black, red, pink, blue, or white.  Most melanomas affect only the outermost layer of skin (the epidermis). If a melanoma becomes thicker and involves multiple layers of skin, it can spread to other parts of the body (metastasize).  A large number of moles or other pigmented skin growths on the body, generally more than 25, is associated with an increased risk of developing melanoma. Melanoma is also a common feature of genetic syndromes affecting the skin such as xeroderma pigmentosum. Additionally, individuals who have previously had melanoma are nearly nine times more likely than the general population to develop melanoma again. It is estimated that about 90 percent of individuals with melanoma survive at least 5 years after being diagnosed.","Curated_Disease_Description_Source__c":"MEDGEN:C2314896","GARD_Synonym__c":"hereditary cutaneous melanoma; hereditary melanoma; hereditary melanoma (disease)","Name":"Familial melanoma","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"The Skin Cancer Foundation","Website__c":"https://www.skincancer.org/"},{"Account_Name__c":"Melanoma Research Alliance","Website__c":"https://www.curemelanoma.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":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic 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:618"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C2314896"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0003460","Source__c":"RareSource"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C8498","Source__c":"C1512419; MONDO:0018961","Xref__c":"C8498"},{"URL__c":"https://www.orpha.net/en/disease/detail/618","Source__c":"C1512419; MONDO:0018961; ORPHA:618","Xref__c":"ORPHA:618"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=268851","Source__c":"C1512419","Xref__c":"MEDGEN:268851"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A6846","Source__c":"MONDO:0018961","Xref__c":"DOID:6846"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1512419","Source__c":"C1512419","Xref__c":"C1512419"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018961","Source__c":"GARD:0003460","Xref__c":"MONDO:0018961"}],"Inheritance__c":["Autosomal dominant","Non-Mendelian inheritance"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:618","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001595","HPO_Synonym__c":"Abnormality of the hair; Hair abnormality","HPO_Name__c":"Abnormal hair morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:618","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the stomach.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006753","HPO_Synonym__c":"Stomach tumor","HPO_Name__c":"Neoplasm of the stomach","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:618","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the pancreas.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002894","HPO_Synonym__c":"Neoplasia of the pancreas; Pancreatic tumor","HPO_Name__c":"Neoplasm of the pancreas","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:618","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of a melanoma, a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002861","HPO_Synonym__c":"Malignant melanoma","HPO_Name__c":"Melanoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:618","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the breast.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100013","HPO_Synonym__c":"Breast tumor; Tumours of the breast","HPO_Name__c":"Neoplasm of the breast","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:618","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Skin characterized by the lack of natural or normal moisture.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000958","HPO_Synonym__c":"Dry skin; Xerosis","HPO_Name__c":"Dry skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:618","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000488","HPO_Synonym__c":"Noninflammatory retina disease","HPO_Name__c":"Retinopathy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:618","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003764","HPO_Synonym__c":"Mole; Naevus","HPO_Name__c":"Nevus","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:618","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001480","HPO_Synonym__c":"Freckling","HPO_Name__c":"Freckling","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:618","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002071","HPO_Synonym__c":"Extrapyramidal dysfunction; Extrapyramidal signs; Extrapyramidal symptoms; Extrapyramidal syndrome; Extrapyramidal tract signs","HPO_Name__c":"Abnormality of extrapyramidal motor function","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:618","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomaly of the lymphatic system, a network of lymphatic vessels that carry a clear fluid called lymph unidirectionally towards either the right lymphatic duct or the thoracic duct, which in turn drain into the right and left subclavian veins respectively.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100763","HPO_Name__c":"Abnormality of the lymphatic system","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Dermatology"],"Disease Category":["Cancer","Genetics","Dermatology"],"Cause":["Genetics"],"Account":["Dermatology"]},"synonyms":["hereditary cutaneous melanoma"," hereditary melanoma"," hereditary melanoma (disease)"]}