MCID: FML024
MIFTS: 45

Familial Melanoma malady

Genetic category

Summaries for Familial Melanoma

Sources:
64Wikipedia, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
Wikipedia:64 Dysplastic nevus syndrome (also known as \"Familial atypical multiple mole–melanoma (FAMMM)... more...

MalaCards: Familial Melanoma, also known as melanoma, familial, is related to xeroderma pigmentosum and spitz nevus. An important gene associated with Familial Melanoma is ASIP (agouti signaling protein), and among its related pathways are Cell Cycle and Inhibition of Ribosome Biogenesis by p14(ARF). The compounds fascaplysin and phaeomelanin have been mentioned in the context of this disorder. Affiliated tissues include skin and pancreas, and related mouse phenotypes are pigmentation and embryogenesis.

Aliases & Classifications for Familial Melanoma

Sources:
8Disease Ontology, 43NIH Rare Diseases, 61UMLS, 40NCIt
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic


Aliases & Descriptions:

familial melanoma 8
melanoma, familial 43
cutaneous melanoma 61


External Ids:

Disease Ontology8 DOID:6846
NCIt40 C8498

Related Diseases for Familial Melanoma

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the melanoma family:

familial melanoma

Diseases related to Familial Melanoma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 106)
idRelated DiseaseScoreTop Affiliating Genes
1xeroderma pigmentosum30.1MGMT, RPA2
2spitz nevus29.9BRAF
3ocular melanoma29.8MC1R
4astrocytoma29.8MDM2, CDKN2A, MGMT, CDK4
5clear cell sarcoma10.2
6dysplastic nevus syndrome10.2
7paraganglioma10.1
8basal cell carcinoma10.1
9superficial spreading melanoma10.1
10xeroderma pigmentosum, group c10.1
11xeroderma pigmentosum, group a10.1
12xeroderma pigmentosum, group g10.1
13cutaneous malignant melanoma10.1
14plasma cell leukemia10.0CDK4
15multiple myeloma10.0CDKN2A
16gliosarcoma10.0CDK4
17myeloid leukemia10.0CDK4
18acute leukemia10.0CDKN2C
19meningioma10.0CDKN2C
20parathyroid adenoma10.0CDKN2C
21fibrosarcoma10.0MDM2
22thyroiditis10.0IFNA1
23kidney cancer10.0IFNA1
24testicular cancer10.0MGMT
25hepatoblastoma10.0AXIN2
26anaplastic ependymoma10.0MDM2
27rhabdomyosarcoma10.0MDM2, CDK4
28pilocytic astrocytoma10.0CDK4, MGMT
29pancreatitis10.0NRAS
30leukoplakia10.0MGMT
31gallbladder cancer10.0NRAS
32kaposi's sarcoma10.0IFNA1
33dedifferentiated liposarcoma10.0CDK4, MDM2
34pituitary adenoma10.0MGMT, CDK4
35myeloma10.0CDKN2C, IFNA1
36thyroid cancer10.0CDK6, BRAF
37lipoma10.0MDM2, CDK4
38laryngeal squamous cell carcinoma10.0CDKN2A, MGMT
39myxoid liposarcoma10.0MDM2, CDK4
40hepatitis10.0IFNA1
41ependymoma10.0MDM2, MGMT
42malignant peripheral nerve sheath tumor10.0CDK4, MDM2, CDKN2A
43bladder carcinoma10.0MDM2, CDKN2A
44oculocutaneous albinism type 210.0OCA2
45myelodysplastic syndromes10.0CDKN2C, NRAS
46obesity10.0MC1R, ASIP
47acute lymphoblastic leukemia, childhood10.0CDKN2A, CDK4, MDM2
48mycosis fungoides10.0IFNA1
49esophageal cancer10.0CDKN2A, MDM2, CDK4
50lynch syndrome10.0BRAF, NRAS

Graphical network of the top 20 diseases related to Familial Melanoma:



Diseases related to familial melanoma

Clinical Features for Familial Melanoma

Drugs & Therapeutics for Familial Melanoma

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Familial Melanoma

Drug clinical trials:

Search ClinicalTrials for Familial Melanoma

Search NIH Clinical Center for Familial Melanoma

Search CenterWatch for Familial Melanoma

Genetic Tests for Familial Melanoma

Anatomical Context for Familial Melanoma

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Familial Melanoma:

33
Skin, Pancreas

Animal Models for Familial Melanoma or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Familial Melanoma:

37 (show all 23)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000118610.1OCA2, ASIP
2MP:00053809.9ASIP, PALB2, AXIN2
3MP:00053679.8OCA2, ASIP
4MP:00053919.7ASIP, AXIN2, OCA2
5MP:00053719.5OCA2, AXIN2, PALB2, ASIP
6MP:00053899.5BRAF, OCA2, CDKN2A, CDKN2C
7MP:00053909.1OCA2, AXIN2, PTPRD, ASIP
8MP:00036319.0CDK4, AXIN2, PALB2, PTPRD, ASIP
9MP:00053828.7ASIP, MC1R, AXIN2, OCA2, MDM2, BRAF
10MP:00030128.4MGMT, MDM2, NRAS, OCA2, CDKN2A, MC1R
11MP:00053818.3BRAF, MDM2, NRAS, OCA2, CDKN2A, CDK4
12MP:00053698.1PTPRD, CDK4, CDK6, CDKN2A, MDM2, BRAF
13MP:00053868.0BRAF, MDM2, OCA2, CDKN2A, CDK4, CDKN2C
14MP:00107718.0MDM2, NRAS, OCA2, CDKN2A, CDK4, CDKN2C
15MP:00053797.9MGMT, OCA2, CDKN2A, CDK6, CDK4, CDKN2C
16MP:00053707.8BRAF, MDM2, NRAS, OCA2, CDKN2A, CDK6
17MP:00053857.6BRAF, MDM2, NRAS, CDK6, CDK4, CDKN2C
18MP:00053977.5BRAF, MDM2, NRAS, OCA2, CDKN2A, CDK6
19MP:00053847.5BRAF, MDM2, NRAS, CDKN2A, CDK6, CDK4
20MP:00053877.5BRAF, MDM2, NRAS, OCA2, CDKN2A, CDK6
21MP:00020067.2ASIP, BRAF, MGMT, MDM2, NRAS, CDKN2A
22MP:00053786.6CDKN2A, OCA2, NRAS, MDM2, BRAF, CDK6
23MP:00107686.1OCA2, NRAS, MDM2, MGMT, BRAF, CDKN2A

Publications for Familial Melanoma

Sources:
51PubMed
See all sources

Articles related to Familial Melanoma:

(show top 50)    (show all 134)
idTitleAuthorsYear
1
Living with familial melanoma syndrome: coping with the anxiety of three melanomas. (22515589)
2012
2
Indication for CDKN2A-mutation analysis in familial pancreatic cancer families without melanomas. (22636603)
2012
3
Clinical features predicting identification of CDKN2A mutations in Italian patients with familial cutaneous melanoma. (21893440)
2011
4
Novel and recurrent p14 mutations in Italian familial melanoma. (20132244)
2010
5
Familial melanoma: a meta-analysis and estimates of attributable fraction. (20056624)
2010
6
Genetics: familial melanoma. (20090079)
2010
7
Clinical genetic testing for familial melanoma in Italy: a cooperative study. (19500876)
2009
8
Genetic testing in familial melanoma: uptake and implications. (18613292)
2008
9
The contribution of large genomic deletions at the CDKN2A locus to the burden of familial melanoma. (18612309)
2008
10
Anticipated uptake of genetic testing for familial melanoma in an Australian sample: An exploratory study. (16874747)
2007
11
Genetic study of familial uveal melanoma: association of uveal and cutaneous melanoma with cutaneous and ocular nevi. (17207529)
2007
12
A CDKN2A mutation in familial melanoma that abrogates binding of p16INK4a to CDK4 but not CDK6. (17909018)
2007
13
Re: MC1R, ASIP, and DNA repair in sporadic and familial melanoma in a Mediterranean population. (16418518)
2006
14
A population-based study on the familial aggregation of cutaneous malignant melanoma in Iceland. (16530404)
2006
15
MC1R, ASIP, and DNA repair in sporadic and familial melanoma in a Mediterranean population. (15998953)
2005
16
NRAS hypermutability in familial melanoma with CDKN2A mutations--cause and effect? (12783922)
2003
17
Alterations in CDKN2A locus as potential indicator of melanoma predisposition in relatives of non-familial melanoma cases. (12950144)
2003
18
Characterization of the neoplastic phenotype in the familial atypical multiple-mole melanoma-pancreatic carcinoma syndrome. (12910525)
2003
19
p16INK4A and familial melanoma. (12710687)
2003
20
Absence of exon 15 BRAF germline mutations in familial melanoma. (12619120)
2003
21
Novel O6-methylguanine-DNA methyltransferase SNPs: a frequency comparison of patients with familial melanoma and healthy individuals in Sweden. (12402349)
2002
22
Genetic Testing in Familial Melanoma : Epidemiologic/Genetic Assessment of Risks and Role of CDKN2A Analysis. (22323255)
2001
23
The INK4a-ARF locus: role in the genetic predisposition to familial melanoma and in skin carcinogenesis]. (11741799)
2001
24
Familial melanoma aggregation in north-eastern Italy. (10998160)
2000
25
A major quantitative-trait locus for mole density is linked to the familial melanoma gene CDKN2A: a maximum-likelihood combined linkage and association analysis in twins and their sibs. (10417291)
1999
26
Familial melanoma; CDKN2A and beyond. (10537008)
1999
27
CDKN2A germline mutations in U.K. patients with familial melanoma and multiple primary melanomas. (9699728)
1998
28
Germ-line deletion involving the INK4 locus in familial proneness to melanoma and nervous system tumors. (9622062)
1998
29
Screening of germline mutations in the CDK4, CDKN2C and TP53 genes in familial melanoma: a clinic-based population study. (9724087)
1998
30
Characteristics of familial and non-familial melanoma in Australia. (9835460)
1998
31
Novel germline p16 mutation in familial malignant melanoma in southern Sweden. (8653684)
1996
32
Familial melanoma and pancreatic cancer. (8552159)
1996
33
Familial melanoma and pancreatic cancer. (8552160)
1996
34
Prevalence of germ-line mutations in p16, p19ARF, and CDK4 in familial melanoma: analysis of a clinic-based population. (8710906)
1996
35
Germline mutations in the p16INK4a binding domain of CDK4 in familial melanoma. (8528263)
1996
36
The Queensland Familial Melanoma Project: study design and characteristics of participants. (8791274)
1996
37
Frequency of familial melanoma and MLM2 gene. (7776789)
1995
38
Mutations associated with familial melanoma impair p16INK4 function. (7647780)
1995
39
Dysplastic nevi as a melanoma risk factor in patients with familial melanoma. (7982177)
1994
40
Linkage analysis in familial melanoma kindreds to markers on chromosome 6p. (7989117)
1994
41
Germline p16 mutations in familial melanoma. (7987387)
1994
42
Can C4AQO decreased frequency be considered a genetic marker for vitiligo and familial melanoma? (2394312)
1990
43
Spontaneous and 4-nitroquinoline 1-oxide-induced G2 chromosome aberrations in lymphoblasts from familial melanoma patients. (2502307)
1989
44
Dysplastic nevus syndrome. Familial and sporadic precursors of cutaneous melanoma. (3830486)
1985
45
Acquired precursors of cutaneous malignant melanoma. The familial dysplastic nevus syndrome. (3964923)
1985
46
The familial occurrence of cutaneous melanoma, intraocular melanoma, and the dysplastic nevus syndrome. (6660276)
1983
47
The familial occurrence of cutaneous melanoma, intraocular melanoma, and the dysplastic nevus syndrome. (6881247)
1983
48
Low natural-killer-cell activity in familial melanoma patients and their relatives. (314301)
1979
49
Precursor lesions in familial melanoma. (635599)
1978
50
Familial intraocular melanoma. (5506870)
1970

Genetic Variations for Familial Melanoma

Expression for genes affiliated with Familial Melanoma

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Familial Melanoma

Search GEO for disease gene expression data for Familial Melanoma.

Pathways for genes affiliated with Familial Melanoma

Sources:
54Reactome, 52QIAGEN, 38NCBI BioSystems Database, 12EMD Millipore, 30KEGG, 50PharmGKB, 4Cell Signaling Technology
See all sources

Pathways related to Familial Melanoma according to GeneCards/GeneDecks:

(show all 28)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.2RPA2
210.0MDM2, CDKN2A
310.0MDM2, CDKN2A
4
Transcription P53 signaling pathway
Hide members
9.7CDK4, CDKN2A, MDM2
59.6BRAF, MDM2, CDKN2A
6
Hide members
9.6PALB2, MGMT, RPA2
7
Hide members
9.5CDK4, NRAS, BRAF
8
Hide members
9.4NRAS, MDM2, BRAF
99.4CDKN2C, CDK4, CDKN2A, NRAS
10
Hide members
9.3RPA2, MGMT, MDM2, CDK4
11
Hide members
9.3ASIP, MC1R, AXIN2, NRAS
12
Cell cycle Cell cycle (generic schema)
Hide members
9.2CDK4, CDK6, CDKN2A
139.2NRAS, IFNA1, BRAF
14
Hide members
9.1BRAF, MDM2, NRAS, AXIN2
15
Hide members
9.0CDKN2A, CDK6, CDK4, CDKN2C
16
Hide members
8.9MDM2, CDKN2A, CDK6, CDKN2C
178.7MDM2, NRAS, CDKN2A, CDK6
18
Hide members
8.6RPA2, MDM2, CDKN2A, CDK6, CDK4
198.5CDK4, CDK6, CDKN2A, NRAS, MDM2
20
Hide members
8.5IFNA1, NRAS, CDK6, CDK4
21
Hide members
8.4RPA2, MDM2, CDKN2A, CDK6, CDK4, CDKN2C
22
Hide members
8.4BRAF, MDM2, NRAS, CDK6, CDKN2C
238.2IFNA1, MDM2, NRAS, CDK6, CDK4
24
Hide members
8.2BRAF, MDM2, NRAS, CDKN2A, CDK6, CDK4
25
Hide members
8.0RPA2, MGMT, MDM2, CDKN2A, CDK6, CDK4
26
Hide members
7.9BRAF, MDM2, NRAS, CDKN2A, CDK6, CDK4
277.8CDK4, CDK6, CDKN2A, NRAS, MDM2, MGMT
287.8BRAF, MDM2, NRAS, CDKN2A, CDK6, CDK4

Compounds for genes affiliated with Familial Melanoma

Sources:
45Novoseek, 24HMDB, 50PharmGKB, 11DrugBank, 60Tocris Bioscience, 29IUPHAR
See all sources

Compounds related to Familial Melanoma according to GeneCards/GeneDecks:

(show top 50)    (show all 64)
idCompoundScoreTop Affiliating Genes
1fascaplysin4510.4CDK4, CDKN2A
2phaeomelanin4510.4ASIP, MC1R
3eumelanin4510.3ASIP, MC1R
4arsenite45 2411.3CDKN2A, MDM2
57,12-dimethylbenz(a)anthracene4510.0MGMT, MDM2, CDKN2A
6p000014510.0CDKN2A, MDM2, BRAF
7vincristine45 50 1112.0MGMT, IFNA1
8o6-methylguanine4510.0BRAF, MGMT, CDKN2A
9acnu4510.0MGMT, CDKN2A
10crcs4510.0BRAF, MGMT, CDKN2A
11paclitaxel45 50 1111.8BRAF, MDM2, CDKN2A, CDK4
12p202459.8IFNA1, MDM2
13temozolomide45 1110.8IFNA1, MGMT, CDKN2A
14bcnu459.8IFNA1, MGMT, CDKN2A
15serine459.8MC1R, AXIN2, CDKN2C, RPA2
16fisetin459.8CDK6, CDK4
17fludarabine45 1110.7CDK4, MDM2, IFNA1
18su 9516609.7CDK6, CDK4
19purvalanol b609.7CDK6, CDK4
20ro 3306609.7CDK6, CDK4
21kenpaullone45 6010.6CDK6, CDK4
22carboplatin45 50 1111.6CDK4, MDM2, MGMT
23lomustine45 1110.5IFNA1, MGMT
2417-(allylamino)-17-demethoxygeldanamycin459.5CDK4, CDK6, BRAF
25melphalan45 1110.5MDM2, MGMT, IFNA1
26paraffin459.4BRAF, MGMT, MDM2, CDKN2A, CDK4
27agar459.4CDK4, CDKN2A, NRAS, MDM2, BRAF
285-aza-2deoxycytidine459.4IFNA1, MGMT, MDM2, CDKN2A
29trastuzumab45 50 1111.4MDM2, CDK6, CDK4
30cyclic amp45 2410.4BRAF, MDM2, CDKN2A, CDK4, MC1R, ASIP
31roscovitine459.4MDM2, CDKN2A, CDK6, CDK4
32flavopiridol45 1110.4MDM2, CDKN2A, CDK6, CDK4
33thymidylate459.3IFNA1, MGMT, MDM2, CDKN2A, CDK4
345fluorouracil459.3IFNA1, MGMT, MDM2, CDKN2A, CDK4
35doxorubicin45 50 1111.3IFNA1, MGMT, MDM2, CDKN2A, CDK4
36dexamethasone45 50 29 1112.2IFNA1, MGMT, MDM2, CDKN2A, CDK4
37irinotecan45 50 1111.2BRAF, IFNA1, MGMT, MDM2, CDKN2A
38etoposide45 50 60 1112.1MDM2, MGMT, IFNA1, RPA2
39camptothecin45 60 1111.0CDK4, CDKN2A, MDM2, MGMT, IFNA1, RPA2
40valine459.0CDK4, CDK6, CDKN2A, MDM2, BRAF
41vegf458.9BRAF, IFNA1, MGMT, MDM2, CDKN2A, CDK4
42gefitinib45 50 1110.8CDK4, CDK6, MDM2
43oligonucleotide458.8RPA2, BRAF, MGMT, MDM2, NRAS, CDKN2A
44rapamycin458.7BRAF, IFNA1, MDM2, CDK6, CDK4
45thymidine45 249.6IFNA1, MGMT, MDM2, CDK6, CDK4
46alanine458.3BRAF, IFNA1, MDM2, CDKN2A, CDK6, CDK4
47cisplatin45 50 60 1111.2BRAF, IFNA1, MGMT, MDM2, CDKN2A, CDK6
48threonine458.1RPA2, BRAF, MDM2, CDKN2A, CDK6, CDK4
49retinoic acid45 249.0CDK4, CDK6, CDKN2A, MGMT, IFNA1, BRAF
50tyrosine457.4RPA2, BRAF, IFNA1, MDM2, NRAS, CDK6

GO Terms for genes affiliated with Familial Melanoma

Sources:
16Gene Ontology
See all sources

Cellular components related to Familial Melanoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cyclin-dependent protein kinase holoenzyme complexGO:0003079.1CDK4, CDK6
2nucleoplasmGO:0056548.8PALB2, CDK4, CDKN2A, MDM2, MGMT, RPA2

Biological processes related to Familial Melanoma according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1G1/S transition of mitotic cell cycleGO:00008210.3RPA2
2protein destabilizationGO:03164810.0CDKN2A, MDM2
3melanin biosynthetic processGO:0424389.7ASIP, MC1R, OCA2
4positive regulation of gene expressionGO:0106288.9BRAF, MDM2, CDK6
5cell cycle arrestGO:0070508.9CDKN2A, CDK6, CDKN2C
6negative regulation of cell proliferationGO:0082858.8CDKN2A, CDK6, CDKN2C, AXIN2
7mitotic cell cycleGO:0002788.8RPA2, CDKN2A, CDK6, CDK4, CDKN2C

Molecular functions related to Familial Melanoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cyclin-dependent protein serine/threonine kinase inhibitor activityGO:0048619.7CDKN2C, CDKN2A
2cyclin bindingGO:0303329.4CDK4, CDK6
3protein bindingGO:0055156.1PTPRD, RPA2, BRAF, MDM2, OCA2, CDKN2A

Products for genes affiliated with Familial Melanoma

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Familial Melanoma

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet