MCID: DYS002
MIFTS: 36

Dysplastic Nevus Syndrome

Categories: Rare diseases, Skin diseases, Genetic diseases, Endocrine diseases, Cancer diseases

Aliases & Classifications for Dysplastic Nevus Syndrome

MalaCards integrated aliases for Dysplastic Nevus Syndrome:

Name: Dysplastic Nevus Syndrome 12 76 55 44 15 73
Melanoma-Pancreatic Cancer Syndrome 53 59 73
Familial Atypical Multiple Mole Melanoma-Pancreatic Carcinoma Syndrome 53 59
Familial Atypical Multiple Mole Melanoma Syndrome 53 59
Familial Atypical Multiple Mole-Melanoma 12 73
Familial Atypical Mole Melanoma Syndrome 53 73
Familial Dysplastic Nevus Syndrome 53 59
Familial Atypical Mole Syndrome 53 59
Familial Clark Nevus Syndrome 53 59
B-K Mole Syndrome 53 59
Famm-Pc Syndrome 53 59
Fammm Syndrome 53 59
Familial Atypical Multiple Mole Melanoma-Pancreatic Carcinoma 53
Familial Atypical Multiple Mole Melanoma 55
Famm Syndrome 12

Characteristics:

Orphanet epidemiological data:

59
familial atypical multiple mole melanoma syndrome
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood; Age of death: adult;

Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:10041
MeSH 44 D004416
Orphanet 59 ORPHA404560
UMLS via Orphanet 74 C0205747 C0013403 C2314896 more
ICD10 via Orphanet 34 D22.9

Summaries for Dysplastic Nevus Syndrome

NIH Rare Diseases : 53 Familial atypical multiple mole melanomasyndrome (FAMMM syndrome) is an inherited condition characterized by the presence of multiple moles.Atypical moles, also called dysplastic nevi, are benign but are associated with an increased risk of melanoma. They can occur sporadically (with no other cases in a family), but are a symptom of FAMMM when multiple family members are affected. FAMMM syndrome may also increase the risk of pancreatic cancer in addition to melanoma. FAMMM syndrome is marked by:one or more 1st or 2nd degree relatives (parent, sibling, child, grandparent, grandchild, aunt, or uncle) with malignant melanoma; many moles, some of which are atypical (asymmetrical, raised, or different shades of color) and often of different sizes; and moles that have specific features when examined under a microscope. FAMMM syndrome may be caused by mutations in the CDKN2A gene (in about 40% of cases) or CDK4 gene (in very rare cases). However, in about 60% of cases, the cause is unknown. Inheritance is autosomal dominant. Treatment for FAMMM syndrome typically involves surgery. Family members of people with this condition should have surveillance at periodic intervals for melanoma.

MalaCards based summary : Dysplastic Nevus Syndrome, also known as melanoma-pancreatic cancer syndrome, is related to melanoma-pancreatic cancer syndrome and melanoma, cutaneous malignant 1. An important gene associated with Dysplastic Nevus Syndrome is CDKN2A (Cyclin Dependent Kinase Inhibitor 2A). The drugs Tretinoin and Fenretinide have been mentioned in the context of this disorder. Affiliated tissues include skin, testes and testis.

Wikipedia : 76 Dysplastic nevus syndrome (also known as \"atypical mole syndrome (AMS)\", \"familial atypical multiple... more...

Related Diseases for Dysplastic Nevus Syndrome

Graphical network of the top 20 diseases related to Dysplastic Nevus Syndrome:



Diseases related to Dysplastic Nevus Syndrome

Symptoms & Phenotypes for Dysplastic Nevus Syndrome

Drugs & Therapeutics for Dysplastic Nevus Syndrome

Drugs for Dysplastic Nevus Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 28)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4 5538 444795
2
Fenretinide Investigational Phase 2 65646-68-6
3
Betulinic acid Investigational Phase 1, Phase 2 472-15-1 2371
4 Dermatologic Agents Phase 2
5 Keratolytic Agents Phase 2
6 Analgesics Phase 1, Phase 2
7 Analgesics, Non-Narcotic Phase 1, Phase 2
8 Anti-HIV Agents Phase 1, Phase 2
9 Anti-Infective Agents Phase 1, Phase 2
10 Anti-Inflammatory Agents Phase 1, Phase 2
11 Anti-Inflammatory Agents, Non-Steroidal Phase 1, Phase 2
12 Antimalarials Phase 1, Phase 2
13 Antineoplastic Agents, Phytogenic Phase 1, Phase 2
14 Antiparasitic Agents Phase 1, Phase 2
15 Antiprotozoal Agents Phase 1, Phase 2
16 Anti-Retroviral Agents Phase 1, Phase 2
17 Antirheumatic Agents Phase 1, Phase 2
18 Antiviral Agents Phase 1, Phase 2
19 Hormone Antagonists Phase 1, Phase 2
20 Hormones Phase 1, Phase 2
21 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
22 Peripheral Nervous System Agents Phase 1, Phase 2
23 Prostaglandin Antagonists Phase 1, Phase 2
24
Pancrelipase Approved, Investigational 53608-75-6
25 Protective Agents Early Phase 1
26 Sulforafan Early Phase 1
27 pancreatin
28
Sulforaphane Investigational, Nutraceutical Early Phase 1 142825-10-3, 4478-93-7 5350

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 Tretinoin With or Without Fenretinide in Treating Patients With Dysplastic Nevus Syndrome Completed NCT00003601 Phase 2 fenretinide;tretinoin
2 Evaluation of 20% Betulinic Acid Ointment for Treatment of Dysplastic Nevi (Moderate to Severe Dysplasia) Suspended NCT00346502 Phase 1, Phase 2 20% betulinic acid ointment;BA
3 Using High Resolution Function Imaging To Detect Melanoma and Dysplastic Nevi Unknown status NCT01118832
4 Genetic Identification (ID) of Segmental Dysplastic Nevi Unknown status NCT00955578
5 Prospective Study of 2 mm Margins for the Biopsy of Dysplastic Nevi Completed NCT03094273
6 Pilot Study Evaluating Sulforaphane in Atypical Nevi-Precursor Lesions Completed NCT01568996 Early Phase 1 broccoli sprout extract - sulforaphane (BSE-SFN);broccoli sprout extract - sulforaphane (BSE-SFN);broccoli sprout extract - sulforaphane (BSE-SFN)
7 Clinical, Laboratory, and Epidemiologic Characterization of Individuals and Families at High Risk of Melanoma Recruiting NCT00040352
8 Family Study of Melanoma in Italy Recruiting NCT00339222
9 Pancreatic Cancer Early Detection Program Recruiting NCT02206360
10 Potential Research Study Participant Registry Recruiting NCT00710489
11 Smartphone Application to Detect Skin Lesions Active, not recruiting NCT02740257
12 Pancreatic Cancer Screening of High-Risk Individuals in Arkansas Active, not recruiting NCT02309632 Not Applicable
13 Artificial Intelligence-assisted Evaluation of Pigmented Skin Lesions Not yet recruiting NCT03362138

Search NIH Clinical Center for Dysplastic Nevus Syndrome

Cochrane evidence based reviews: dysplastic nevus syndrome

Genetic Tests for Dysplastic Nevus Syndrome

Anatomical Context for Dysplastic Nevus Syndrome

MalaCards organs/tissues related to Dysplastic Nevus Syndrome:

41
Skin, Testes, Testis

Publications for Dysplastic Nevus Syndrome

Articles related to Dysplastic Nevus Syndrome:

(show top 50) (show all 103)
# Title Authors Year
1
Erythematous-violaceous macule on the chest in a patient with dysplastic nevus syndrome. ( 27444088 )
2016
2
Four cases of dysplastic nevus syndrome. ( 25143698 )
2014
3
Primary gallbladder melanoma in dysplastic nevus syndrome: report of case and literature review. ( 22287410 )
2011
4
Dysplastic nevus syndrome with development of multiple melanomas. A surgical concept for prophylaxis. ( 19456853 )
2009
5
Neurofibromatosis type 1 associated with dysplastic nevus syndrome. ( 19595268 )
2009
6
Monitoring of kindreds with hereditary predisposition for cutaneous melanoma and dysplastic nevus syndrome: results of a Swedish preventive program. ( 17602087 )
2007
7
Mycosis fungoides associated with malignant melanoma and dysplastic nevus syndrome. ( 12708999 )
2003
8
Analysis of the p16 gene status of non-familial dysplastic nevus syndrome patients. ( 11820732 )
2001
9
Melanoma in situ of the oral mucosa in an adolescent with dysplastic nevus syndrome. ( 10775869 )
2000
10
The dangers of atypical mole (dysplastic nevus) syndrome. Teaching at-risk patients to protect themselves from melanoma. ( 10376056 )
1999
11
Interferon alfa-2b-induced Meyerson's nevi in a patient with dysplastic nevus syndrome. ( 9922023 )
1999
12
Repair of directly and indirectly UV-induced DNA lesions and of DNA double-strand breaks in cells from skin cancer-prone patients with the disorders dysplastic nevus syndrome or basal cell nevus syndrome. ( 8912431 )
1997
13
Inherited susceptibility to several cancers but absence of linkage between dysplastic nevus syndrome and CDKN2A in a melanoma family with a mutation in the CDKN2A (P16INK4A) gene. ( 9439668 )
1997
14
Basal cell nevus syndrome and dysplastic nevus syndrome: investigation of gene expression by differential hybridization. ( 8818188 )
1996
15
DNA repair synthesis following irradiation with 254-nm and 312-nm ultraviolet light is not diminished in fibroblasts from patients with dysplastic nevus syndrome. ( 7797597 )
1995
16
[Clinico-genetic aspects of cutaneous melanoma. II. Interconnection and pathogenetic commonality with dysplastic nevus syndrome]. ( 8666223 )
1995
17
Prevalence of primary acquired melanosis and nevi of the conjunctiva and uvea in the dysplastic nevus syndrome. A case-control study. ( 9097801 )
1995
18
A potential laboratory test for dysplastic nevus syndrome: ultraviolet hypermutability of a shuttle vector plasmid. ( 8027583 )
1994
19
Hereditary melanoma and dysplastic nevus syndrome. ( 7863111 )
1994
20
Conjunctival and uveal melanoma in the dysplastic nevus syndrome. ( 8484171 )
1993
21
A rational approach to the understanding and management of the dysplastic nevus syndrome concept. ( 8416135 )
1993
22
Segregation analysis in cutaneous malignant melanoma/dysplastic nevus syndrome families. ( 1737509 )
1992
23
Dysplastic nevi and the dysplastic nevus syndrome. ( 1730167 )
1992
24
Regressive logistic models in linkage analysis of the cutaneous malignant melanoma-dysplastic nevus syndrome. ( 1737497 )
1992
25
Dysplastic nevus syndrome among Japanese. A case study and review of the Japanese literature. ( 1510212 )
1992
26
Dysplastic nevus syndrome: intrafamilial identification of carriers by cytogenetics. ( 1392119 )
1992
27
Dysplastic nevus syndrome: melanoma-prone disease. ( 1363425 )
1992
28
Pregnancy and sex steroid hormone effects on nevi of patients with the dysplastic nevus syndrome. ( 1918487 )
1991
29
Fibroblasts derived from patients with dysplastic nevus syndrome are not more sensitive towards 254-nm and 312-nm ultraviolet light than fibroblasts from normal donors. ( 1997474 )
1991
30
Ocular findings in patients with dysplastic nevus syndrome. An update. ( 1934647 )
1991
31
Dysplastic nevi. Occurrence in first- and second-degree relatives of patients with 'sporadic' dysplastic nevus syndrome. ( 1892403 )
1991
32
Inheritance of nevus number and size in melanoma and dysplastic nevus syndrome kindreds. ( 1770551 )
1991
33
A relation between childhood sun exposure and dysplastic nevus syndrome among patients with nonfamilial melanoma. ( 2054404 )
1991
34
An appraisal of the dysplastic nevus syndrome concept. ( 1983959 )
1991
35
Dysplastic nevus syndrome: a review. ( 2062297 )
1991
36
Prospective follow-up for malignant melanoma in patients with atypical-mole (dysplastic-nevus) syndrome. ( 1991880 )
1991
37
Inverse relation between density of nevi and terminal cutaneous hair. Study of male volunteer subjects and patients enrolled in a dysplastic nevus syndrome registry. ( 2061439 )
1991
38
Diagnosis and management of dysplastic nevus syndrome and early melanoma. ( 2144182 )
1990
39
Increased epidermal growth factor receptors in seborrheic keratoses and acrochordons of patients with the dysplastic nevus syndrome. ( 2148753 )
1990
40
Evidence against the reported linkage of the cutaneous melanoma-dysplastic nevus syndrome locus to chromosome Ip36. ( 2339690 )
1990
41
Ocular melanoma in families with dysplastic nevus syndrome. ( 2254470 )
1990
42
Bioreduction of 4-nitroquinoline 1-oxide in dysplastic nevus syndrome fibroblasts. ( 2494449 )
1989
43
The familial dysplastic nevus syndrome. Natural history and the impact of screening on prognosis. A study of nine families in the Netherlands. ( 2702987 )
1989
44
Exclusion of the dysplastic nevus syndrome (DNS) locus from the short arm of chromosome 1 by linkage studies in Dutch families. ( 2504660 )
1989
45
Ultraviolet mutagenesis in a plasmid vector replicated in lymphoid cells from patient with the melanoma-prone disorder dysplastic nevus syndrome. ( 2790806 )
1989
46
Diminished cutaneous hair density in dysplastic nevus syndrome. ( 2774611 )
1989
47
BCG granulomas in a dysplastic nevus syndrome patient. ( 2964424 )
1988
48
The dysplastic nevus syndrome. ( 3401023 )
1988
49
Dysplastic nevus syndrome--biological significance. ( 3206238 )
1988
50
Plasma 5-S-cysteinyldopa differentiates patients with primary and metastatic melanoma from patients with dysplastic nevus syndrome and normal subjects. ( 3139723 )
1988

Variations for Dysplastic Nevus Syndrome

ClinVar genetic disease variations for Dysplastic Nevus Syndrome:

6
(show top 50) (show all 57)
# Gene Variation Type Significance SNP ID Assembly Location
1 CDKN2A NM_000077.4(CDKN2A): c.226_244del19 (p.Ala76Cysfs) deletion Pathogenic,risk factor rs587776716 GRCh37 Chromosome 9, 21971114: 21971132
2 CDKN2A NM_000077.4(CDKN2A): c.226_244del19 (p.Ala76Cysfs) deletion Pathogenic,risk factor rs587776716 GRCh38 Chromosome 9, 21971115: 21971133
3 CDKN2A NM_000077.4(CDKN2A): c.301G> T (p.Gly101Trp) single nucleotide variant risk factor rs104894094 GRCh37 Chromosome 9, 21971057: 21971057
4 CDKN2A NM_000077.4(CDKN2A): c.301G> T (p.Gly101Trp) single nucleotide variant risk factor rs104894094 GRCh38 Chromosome 9, 21971058: 21971058
5 CDKN2A NM_000077.4(CDKN2A): c.71G> C (p.Arg24Pro) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs104894097 GRCh37 Chromosome 9, 21974756: 21974756
6 CDKN2A NM_000077.4(CDKN2A): c.71G> C (p.Arg24Pro) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs104894097 GRCh38 Chromosome 9, 21974757: 21974757
7 CDKN2A NM_000077.4(CDKN2A): c.377T> A (p.Val126Asp) single nucleotide variant Pathogenic rs104894098 GRCh37 Chromosome 9, 21970981: 21970981
8 CDKN2A NM_000077.4(CDKN2A): c.377T> A (p.Val126Asp) single nucleotide variant Pathogenic rs104894098 GRCh38 Chromosome 9, 21970982: 21970982
9 CDKN2A NM_000077.4(CDKN2A): c.176T> G (p.Val59Gly) single nucleotide variant Likely pathogenic rs104894099 GRCh37 Chromosome 9, 21971182: 21971182
10 CDKN2A NM_000077.4(CDKN2A): c.176T> G (p.Val59Gly) single nucleotide variant Likely pathogenic rs104894099 GRCh38 Chromosome 9, 21971183: 21971183
11 CDKN2A CDKN2A, 5-BP DUP, NT19 duplication Pathogenic
12 CDKN2A NM_000077.4(CDKN2A): c.240_253delACCCGTGCACGACG (p.Pro81Cysfs) deletion Pathogenic rs730881675 GRCh38 Chromosome 9, 21971106: 21971119
13 CDKN2A NM_000077.4(CDKN2A): c.240_253delACCCGTGCACGACG (p.Pro81Cysfs) deletion Pathogenic rs730881675 GRCh37 Chromosome 9, 21971105: 21971118
14 CDKN2A NM_000077.4(CDKN2A): c.-34G> T single nucleotide variant Pathogenic rs1800586 GRCh38 Chromosome 9, 21974861: 21974861
15 CDKN2A NM_000077.4(CDKN2A): c.-34G> T single nucleotide variant Pathogenic rs1800586 GRCh37 Chromosome 9, 21974860: 21974860
16 CDKN2A NM_000077.4(CDKN2A): c.384G> A (p.Arg128=) single nucleotide variant Likely benign rs199901898 GRCh37 Chromosome 9, 21970974: 21970974
17 CDKN2A NM_000077.4(CDKN2A): c.384G> A (p.Arg128=) single nucleotide variant Likely benign rs199901898 GRCh38 Chromosome 9, 21970975: 21970975
18 CDKN2A NM_000077.4(CDKN2A): c.457G> T (p.Asp153Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs45476696 GRCh38 Chromosome 9, 21970902: 21970902
19 CDKN2A NM_000077.4(CDKN2A): c.457G> T (p.Asp153Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs45476696 GRCh37 Chromosome 9, 21970901: 21970901
20 CDKN2A NM_000077.4(CDKN2A): c.9_32del24 (p.Ala4_Pro11del) deletion Uncertain significance rs751570838 GRCh37 Chromosome 9, 21974795: 21974818
21 CDKN2A NM_000077.4(CDKN2A): c.9_32del24 (p.Ala4_Pro11del) deletion Uncertain significance rs751570838 GRCh38 Chromosome 9, 21974796: 21974819
22 CDKN2A NM_000077.4(CDKN2A): c.150+1104C> A single nucleotide variant Uncertain significance rs756102261 GRCh38 Chromosome 9, 21973574: 21973574
23 CDKN2A NM_000077.4(CDKN2A): c.150+1104C> A single nucleotide variant Uncertain significance rs756102261 GRCh37 Chromosome 9, 21973573: 21973573
24 CDKN2A NM_000077.4(CDKN2A): c.-14C> T single nucleotide variant Conflicting interpretations of pathogenicity rs764244718 GRCh38 Chromosome 9, 21974841: 21974841
25 CDKN2A NM_000077.4(CDKN2A): c.-14C> T single nucleotide variant Conflicting interpretations of pathogenicity rs764244718 GRCh37 Chromosome 9, 21974840: 21974840
26 CDKN2A NM_000077.4(CDKN2A): c.-34G> C single nucleotide variant Conflicting interpretations of pathogenicity rs1800586 GRCh37 Chromosome 9, 21974860: 21974860
27 CDKN2A NM_000077.4(CDKN2A): c.-34G> C single nucleotide variant Conflicting interpretations of pathogenicity rs1800586 GRCh38 Chromosome 9, 21974861: 21974861
28 CDKN2A NM_000077.4(CDKN2A): c.-19492T> A single nucleotide variant Uncertain significance rs776987532 GRCh38 Chromosome 9, 21994319: 21994319
29 CDKN2A NM_000077.4(CDKN2A): c.-19492T> A single nucleotide variant Uncertain significance rs776987532 GRCh37 Chromosome 9, 21994318: 21994318
30 CDKN2A NM_000077.4(CDKN2A): c.458-465G> C single nucleotide variant Likely benign rs563204204 GRCh37 Chromosome 9, 21968706: 21968706
31 CDKN2A NM_000077.4(CDKN2A): c.458-465G> C single nucleotide variant Likely benign rs563204204 GRCh38 Chromosome 9, 21968707: 21968707
32 CDKN2A NM_000077.4(CDKN2A): c.458-541A> G single nucleotide variant Likely benign rs938889880 GRCh38 Chromosome 9, 21968783: 21968783
33 CDKN2A NM_000077.4(CDKN2A): c.458-541A> G single nucleotide variant Likely benign rs938889880 GRCh37 Chromosome 9, 21968782: 21968782
34 CDKN2A NM_000077.4(CDKN2A): c.295C> G (p.Arg99Gly) single nucleotide variant Uncertain significance rs34886500 GRCh37 Chromosome 9, 21971063: 21971063
35 CDKN2A NM_000077.4(CDKN2A): c.295C> G (p.Arg99Gly) single nucleotide variant Uncertain significance rs34886500 GRCh38 Chromosome 9, 21971064: 21971064
36 CDKN2A NM_000077.4(CDKN2A): c.151-14G> A single nucleotide variant Benign/Likely benign rs767030551 GRCh38 Chromosome 9, 21971222: 21971222
37 CDKN2A NM_000077.4(CDKN2A): c.151-14G> A single nucleotide variant Benign/Likely benign rs767030551 GRCh37 Chromosome 9, 21971221: 21971221
38 CDKN2A NM_000077.4(CDKN2A): c.150+1104C> T single nucleotide variant Likely benign rs756102261 GRCh38 Chromosome 9, 21973574: 21973574
39 CDKN2A NM_000077.4(CDKN2A): c.150+1104C> T single nucleotide variant Likely benign rs756102261 GRCh37 Chromosome 9, 21973573: 21973573
40 CDKN2A NM_000077.4(CDKN2A): c.150+216A> G single nucleotide variant Likely benign rs147602781 GRCh38 Chromosome 9, 21974462: 21974462
41 CDKN2A NM_000077.4(CDKN2A): c.150+216A> G single nucleotide variant Likely benign rs147602781 GRCh37 Chromosome 9, 21974461: 21974461
42 CDKN2A NM_000077.4(CDKN2A): c.150+193G> A single nucleotide variant Likely benign rs1057517587 GRCh38 Chromosome 9, 21974485: 21974485
43 CDKN2A NM_000077.4(CDKN2A): c.150+193G> A single nucleotide variant Likely benign rs1057517587 GRCh37 Chromosome 9, 21974484: 21974484
44 CDKN2A NM_000077.4(CDKN2A): c.150+104_150+105delAG deletion Likely benign rs1057517608 GRCh38 Chromosome 9, 21974573: 21974574
45 CDKN2A NM_000077.4(CDKN2A): c.150+104_150+105delAG deletion Likely benign rs1057517608 GRCh37 Chromosome 9, 21974572: 21974573
46 CDKN2A NM_000077.4(CDKN2A): c.150+71_150+76del6 deletion Likely benign rs753508262 GRCh38 Chromosome 9, 21974602: 21974607
47 CDKN2A NM_000077.4(CDKN2A): c.150+71_150+76del6 deletion Likely benign rs753508262 GRCh37 Chromosome 9, 21974601: 21974606
48 CDKN2A NM_000077.4(CDKN2A): c.150+40C> T single nucleotide variant Likely benign rs1057517604 GRCh37 Chromosome 9, 21974637: 21974637
49 CDKN2A NM_000077.4(CDKN2A): c.150+40C> T single nucleotide variant Likely benign rs1057517604 GRCh38 Chromosome 9, 21974638: 21974638
50 CDKN2A NM_058195.3(CDKN2A): c.79A> C (p.Ile27Leu) single nucleotide variant Uncertain significance rs1057517575 GRCh37 Chromosome 9, 21994252: 21994252

Expression for Dysplastic Nevus Syndrome

Search GEO for disease gene expression data for Dysplastic Nevus Syndrome.

Pathways for Dysplastic Nevus Syndrome

GO Terms for Dysplastic Nevus Syndrome

Sources for Dysplastic Nevus Syndrome

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