ORPHA:618
Familial melanoma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Multigenic/multifactorial
- Age of onset
- Adult
- Status
- active
Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degree relatives or more relatives in an affected family.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial melanoma | |
| fr | Mélanome malin familial | |
| de | Melanom, familiäres | |
| es | Melanoma familiar | |
| it | Melanoma familiare | |
| nl | Familiaal melanoom | |
| pt | Melanoma familiar | |
| pl | Czerniak rodzinny | |
| cs | Familiární maligní melanom | |
| uk | Сімейна меланома | |
| zh | 家族性黑素瘤 | |
| tr | ailesel melanom |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 155600 | NTBT | validated | |
| OMIM | 155601 | BTNT | validated | |
| OMIM | 155700 | BTNT | validated | |
| OMIM | 608035 | BTNT | validated | |
| OMIM | 609048 | BTNT | validated | |
| OMIM | 613099 | BTNT | validated | |
| OMIM | 613972 | BTNT | validated | |
| OMIM | 615134 | BTNT | validated | |
| OMIM | 615848 | BTNT | validated | |
| ICD-10 | C43.0 | BTNT | attributed | validated |
| ICD-10 | C43.1 | BTNT | attributed | validated |
| ICD-10 | C43.2 | BTNT | attributed | validated |
| ICD-10 | C43.3 | BTNT | attributed | validated |
| ICD-10 | C43.4 | BTNT | attributed | validated |
| ICD-10 | C43.5 | BTNT | attributed | validated |
| ICD-10 | C43.6 | BTNT | attributed | validated |
| ICD-10 | C43.7 | BTNT | attributed | validated |
| ICD-10 | C43.8 | BTNT | attributed | validated |
| ICD-11 | QC61.Y | NTBT | index | validated |
| MONDO | 0018961 | E | validated | |
| UMLS | C1512419 | E | validated | |
| GARD | 3460 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:183487Genetic skin tumor or hamartoma
rare genetic diseases - ORPHA:140162Inherited cancer-predisposing syndrome
rare genetic diseases; rare neoplastic diseases - ORPHA:79386Rare skin tumor or hamartoma
rare skin diseases; rare neoplastic diseases
No children.
4
Genes
11 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CDKN2B | Candidate gene tested in | Not yet assessed | HGNC:1788 | ENSG00000147883 | 600431 | 9p21.3 | cyclin dependent kinase inhibitor 2B | |
| ACD | Major susceptibility factor in | Assessed | HGNC:25070 | ENSG00000102977 | 609377 | 16q22.1 | ACD shelterin complex subunit and telomerase recruitment factor | 25431349[PMID] |
| BAP1 | Major susceptibility factor in | Assessed | HGNC:950 | ENSG00000163930 | 603089 | 3p21.1 | BRCA1 associated deubiquitinase 1 | 25431349[PMID] |
| CDK4 | Major susceptibility factor in | Assessed | HGNC:1773 | ENSG00000135446 | 123829 | 12q14.1 | cyclin dependent kinase 4 | 19585149[PMID] |
| CDKN2A | Major susceptibility factor in | Assessed | HGNC:1787 | ENSG00000147889 | 600160 | 9p21.3 | cyclin dependent kinase inhibitor 2A | 19585149[PMID] |
| MC1R | Major susceptibility factor in | Assessed | HGNC:6929 | ENSG00000258839 | 155555 | 16q24.3 | melanocortin 1 receptor | 24238329[PMID]_24258989[PMID] |
| MGMT | Major susceptibility factor in | Assessed | HGNC:7059 | ENSG00000170430 | 156569 | 10q26.3 | O-6-methylguanine-DNA methyltransferase | 24801985[PMID] |
| MITF | Major susceptibility factor in | Assessed | HGNC:7105 | ENSG00000187098 | 156845 | 3p13 | melanocyte inducing transcription factor | 25431349[PMID] |
| POT1 | Major susceptibility factor in | Assessed | HGNC:17284 | ENSG00000128513 | 606478 | 7q31.33 | protection of telomeres 1 | 24686846[PMID]_24686849[PMID] |
| TERF2IP | Major susceptibility factor in | Assessed | HGNC:19246 | ENSG00000166848 | 605061 | 16q23.1 | TERF2 interacting protein | 25431349[PMID] |
| TERT | Major susceptibility factor in | Assessed | HGNC:11730 | ENSG00000164362 | 187270 | 5p15.33 | telomerase reverse transcriptase | 23348503[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 100 000 | 1.5 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
11 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002861 | Melanoma | |
| HP:0003764 | Nevus | |
| Frequent (79-30%) | ||
| HP:0001595 | Abnormality of the hair | |
| HP:0100763 | Abnormality of the lymphatic system | |
| HP:0000958 | Dry skin | |
| HP:0001480 | Freckling | |
| Occasional (29-5%) | ||
| HP:0002071 | Abnormality of extrapyramidal motor function | |
| HP:0100013 | Neoplasm of the breast | |
| HP:0002894 | Neoplasm of the pancreas | |
| HP:0006753 | Neoplasm of the stomach | |
| HP:0000488 | Retinopathy | |
Run the differential on the 2 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/618
- This record as JSON: /data/d/618.json