ORPHA:404560
Familial atypical multiple mole melanoma syndrome
Synonyms: B-K mole syndrome · FAMM-PC syndrome · FAMMM syndrome · Familial atypical mole syndrome · Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome · Familial dysplastic nevus syndrome · Melanoma-pancreatic cancer syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
Familial atypical multiple mole melanoma (FAMMM) syndrome is an inherited genodermatosis characterized by the presence of multiple melanocytic nevi (often >50) and a family history of melanoma as well as, in a subset of patients, an increased risk of developing pancreatic cancer and other malignancies.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial atypical multiple mole melanoma syndrome | B-K mole syndrome · FAMM-PC syndrome · FAMMM syndrome · Familial atypical mole syndrome · Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome · Familial dysplastic nevus syndrome · Melanoma-pancreatic cancer syndrome |
| fr | Syndrome familial des naevus atypiques | Mélanomes atypiques multiples familiaux · Syndrome FAMM-PC · Syndrome FAMMM · Syndrome du naevus atypique · Syndrome familial des naevus dysplasiques · Syndrome mélanome-cancer pancréatique |
| de | Familiäres atpisches multiples Muttermal- und Melanomsyndrom | B-K Muttermal-Syndrom · FAMM-PC-Syndrom · FAMMM-Syndrom · Familiäres Clark-Nävus-Syndrom · Familiäres Melanom-Pankreaskrebs-Syndrom · Familiäres atpisches Naevus-Syndrom · Familiäres dysplastisches Nävus-Syndrom |
| es | Síndrome de melanoma familiar con lunares atípicos múltiples | Síndrome FAMM-PC · Síndrome FAMMM · Síndrome de lunar B-K · Síndrome de lunar atípico familiar · Síndrome de melanoma-cáncer pancreático · Síndrome de nevo displásico familiar · Síndrome familiar de melanoma y lunares múltiples atípicos-carcinoma pancreático |
| it | Sindrome da melanoma familiare con nevi multipli atipici | B-K mole syndrome · Sindrome FAMM-PC · Sindrome FAMMM · Sindrome familiare con mole-melanomi multipli atipici e tumore pancreatico · Sindrome familiare da mole atipiche · Sindrome familiare da nevi displastici · Sindrome familiare del nevo di Clark · Sindrome melanoma-tumore pancreatico |
| nl | Familiaal melanoom met atypische meervoudige moedervlekken-syndroom | B-K-moedervlek-syndroom · FAMM-PC-syndroom · FAMMM-syndroom · Familiaal melanoom met atypische meervoudige moedervlekken - pancreascarcinoom-syndroom · Familiale atypische moedervlek-syndroom · Familiale dysplastische naevus-syndroom · Melanoom - pancreaskanker-syndroom |
| pt | Síndrome atípico do melanoma de verrugas múltiplas familiar | |
| pl | Rodzinny zespół znamion dysplastycznych związanych z czerniakiem | Rodzinny zespół znamion atypowych · Rodzinny zespół znamion Clarka · Rodzinny zespół znamion dysplastycznych · Rodzinny zespół znamion dysplastycznych związanych z czerniakiem, z dodatkowo występującym rakiem trzustki · Zespół czerniaka i raka trzustki · Zespół FAMMM · Zespół FAMM-PC |
| cs | Syndrom zahrnující mnohočetné dysplastické névy/melanom a pankreatický karcinom | Syndrom B-K pigmentové skrvny · Syndrom FAMM-PC · FAMMM syndrom · Familiární syndrom s Clarkovými névy · Familiární syndrom s atypickými pigmentovými skvrnami · Syndrom zahrnující melanom a karcinom pankreatu · Syndrom familiárního melanomu · Syndrom familiárního melanomu (s dysplastickými névy či bez nich) · Familiární syndrom dysplastických névů |
| uk | Сімейний атиповий синдром множинної родимої меланоми | Синдром родимки B-K · Сімейний синдром атипових родимок · Сімейний атиповий синдром множинної родимки-меланоми та карциноми підшлункової залози · Сімейний синдром диспластичного невусу · Синдром FAMMM · Синдром FAMM-PC · Синдром меланоматозно-панкреатичного раку |
| zh | 家族性非典型多发性痣黑色素瘤综合征 | 家族性非典型多发性黑素瘤-胰腺癌综合征 |
| tr | Ailesel atipik çoklu mol melanom sendromu | FAMMM sendromu · FAMM-PC sendromu · B-K mol sendromu · Ailesel atipik köstebek sendromu · Ailesel displastik nevüs sendromu · Melanom-pankreas kanseri sendromu · Ailesel atipik çoklu mol melanom-pankreas karsinom sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 155600 | BTNT | validated | |
| OMIM | 606719 | BTNT | validated | |
| ICD-10 | C43.9 | NTBT | attributed | validated |
| MONDO | 0018453 | E | validated | |
| UMLS | C2314896 | E | validated | |
| GARD | 9281 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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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.
Codes that Orphanet moved or referred to this one:
- ORPHA:51013OBSOLETE: Melanoma-pancreatic cancer syndrome referred to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CDKN2A | Disease-causing germline mutation(s) in | Assessed | HGNC:1787 | ENSG00000147889 | 600160 | 9p21.3 | cyclin dependent kinase inhibitor 2A | 21249757[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| 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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/404560
- This record as JSON: /data/d/404560.json