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Disease Profile
Hereditary melanoma
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
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Age of onset
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ICD-10
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Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Hereditary Cutaneous Melanoma; Familial Cutaneous Melanoma; Hereditary Cutaneous (Skin) Melanoma;
Categories
Rare Cancers
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Melanoma | 0002861 | |
Nevus |
Mole
|
0003764 |
30%-79% of people have these symptoms | ||
Abnormal hair morphology |
Abnormality of the hair
Hair abnormality
[ more ] |
0001595 |
Abnormality of the |
0100763 | |
Dry skin | 0000958 | |
Freckling | 0001480 | |
5%-29% of people have these symptoms | ||
Abnormality of extrapyramidal motor function | 0002071 | |
Neoplasm of the breast |
Breast tumor
Tumours of the breast
[ more ] |
0100013 |
Neoplasm of the pancreas |
Cancer of the pancreas
Pancreatic tumor
[ more ] |
0002894 |
Neoplasm of the stomach |
Stomach tumor
|
0006753 |
Retinopathy |
Noninflammatory retina disease
|
0000488 |
Treatment
FDA-Approved Treatments
The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.
- Encorafenib + binimetinib(Brand name: Braftovi + Mektovi) Manufactured by Array BioPharma, Inc.
FDA-approved indication: June 2018, approved in combination for the treatment of patients with unresectable or metastaticmelanoma with a BRAF V600E or V600Kmutation , as detected by an FDA-approved test. - Pembrolizumab(Brand name: Keytruda) Manufactured by Merck, Sharp & Dohme Corp
FDA-approved indication: Treatment of patients with unresectable or metastatic melanoma and disease progression following ipilimumab and, if BRAF V600 mutation positive, a BRAF inhibitor.
National Library of Medicine Drug Information Portal
Medline Plus Health Information - Trametinib(Brand name: Mekinist) Manufactured by GlaxoSmithKline, LLC
FDA-approved indication: Treatment of patients with unresectable or metastatic melanoma with BRAF V600E or V600K mutations as detected by an FDA approved test.
National Library of Medicine Drug Information Portal - Trametinib and dabrafenib combination(Brand name: Mekinist And Tafinlar) Manufactured by Novartis Pharmaceuticals Corporation
FDA-approved indication: April 2018 approved combination for the adjuvant treatment of patients with melanoma with BRAF V600E or V600K mutations, as detected by an FDA-approved test, and involvement oflymph node (s), following complete resection. - Nivolumab(Brand name: Opdivo) Manufactured by Bristol-Myers Squibb Co
FDA-approved indication: Treatment of patients with unresectable or metastatic melanoma and disease progression following ipilimumab and, if BRAF V600 mutation positive, a BRAF inhibitor. And treatment of patients with melanoma with involvement of lymph nodes or metestatic disease who have undergone complete resection.
National Library of Medicine Drug Information Portal
Medline Plus Health Information - Aldesleukin(Brand name: Proleukin) Manufactured by Chiron Corporation
FDA-approved indication: Treatment of adults with metastatic melanoma.
National Library of Medicine Drug Information Portal
Medline Plus Health Information - Peginterferon Alfa-2b(Brand name: Sylatron) Manufactured by Schering/Merck
FDA-approved indication: Adjuvant treatment of melanoma with microscopic or gross nodal involvement within 84 days of definitive surgical resection including complete lymphadenectomy
National Library of Medicine Drug Information Portal - Dabrafenib(Brand name: Tafinlar) Manufactured by GlaxoSmithKline, LLC
FDA-approved indication: Treatment of patients with unresectable or metastatic melanoma with BRAF V600E mutation as detected by an FDA approved test.
National Library of Medicine Drug Information Portal - Technetium Tc99m sulfur colloid injection, lyophilized(Brand name: Technetium Tc99m Sulfur Colloi) Manufactured by Pharmalucence, Inc.
FDA-approved indication: Localization of lymph nodes draining a primarytumor in patients with melanoma when used with a hand-held gamma counter
National Library of Medicine Drug Information Portal - Ipilimumab(Brand name: Yervoy) Manufactured by Bristol-Myers Squibb Pharmaceutical
FDA-approved indication: Treatment of unresectable or metastatic melanoma for patients 12 years old and up.
National Library of Medicine Drug Information Portal
Medline Plus Health Information
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
Melanoma Research Alliance (MRA)
730 15th Street, NW
Washington, DC 20005
Telephone: +1-202-336-8935
E-mail: [email protected]
Website: https://www.curemelanoma.org/
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
In-Depth Information
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.