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MCID: DYS002
MIFTS: 53

Dysplastic Nevus Syndrome

Categories: Cancer diseases, Endocrine diseases, Genetic diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Dysplastic Nevus Syndrome

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MalaCards integrated aliases for Dysplastic Nevus Syndrome:

Name: Dysplastic Nevus Syndrome 12 74 54 43 15 71
Melanoma-Pancreatic Cancer Syndrome 52 58 71
Familial Atypical Multiple Mole Melanoma-Pancreatic Carcinoma Syndrome 52 58
Familial Atypical Multiple Mole Melanoma Syndrome 52 58
Familial Atypical Multiple Mole-Melanoma 12 71
Familial Atypical Mole Melanoma Syndrome 52 71
Familial Dysplastic Nevus Syndrome 52 58
Familial Atypical Mole Syndrome 52 58
B-K Mole Syndrome 52 58
Famm-Pc Syndrome 52 58
Fammm Syndrome 52 58
Familial Atypical Multiple Mole Melanoma-Pancreatic Carcinoma 52
Familial Atypical Multiple Mole Melanoma 54
Familial Clark Nevus Syndrome 52
Dysplastic Nevus 17
Famm Syndrome 12

Characteristics:

Orphanet epidemiological data:

58
familial atypical multiple mole melanoma syndrome
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood; Age of death: adult;

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases Cancer diseases
Anatomical: Skin diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:10041
MeSH 43 D004416
ICD10 via Orphanet 33 D22.9
UMLS via Orphanet 72 C0013403 C0205747 C1838547 more
Orphanet 58 ORPHA404560
UMLS 71 C0013403 C0205747 C1838547 more
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Summaries for Dysplastic Nevus Syndrome

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NIH Rare Diseases : 52 Familial atypical multiple mole melanoma syndrome (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 tetraploidy and familial retinoblastoma. An important gene associated with Dysplastic Nevus Syndrome is CDKN2A (Cyclin Dependent Kinase Inhibitor 2A), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Regulation of TP53 Activity. The drugs Tretinoin and Fenretinide have been mentioned in the context of this disorder. Affiliated tissues include skin, breast and ovary, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and Synthetic lethal with MLN4924 (a NAE inhibitor)

Wikipedia : 74 Dysplastic nevus syndrome, also known as familial atypical multiple mole-melanoma (FAMMM) syndrome, is a... more...

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Related Diseases for Dysplastic Nevus Syndrome

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Diseases related to Dysplastic Nevus Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 212)
# Related Disease Score Top Affiliating Genes
1 tetraploidy 30.6 BRCA2 BRCA1
2 familial retinoblastoma 30.3 CDKN2A CDK4
3 melanoma 30.1 STK11 MIR200A CMM CDKN2A CDK4 BRCA2
4 nodular malignant melanoma 30.0 CDKN2A CDK4
5 rhabdomyosarcoma 28.9 MSH6 MSH2 CDKN2A CDK4 BRCA1
6 melanoma, cutaneous malignant 1 28.8 STK11 PRSS58 PRSS1 PALB2 MSH6 MSH2
7 basal cell carcinoma 28.7 PALB2 MSH2 MLH1 CDKN2A
8 xeroderma pigmentosum, variant type 28.6 MSH6 MSH2 MLH1 BRCA2 BRCA1
9 bladder cancer 28.3 MLH1 MIR200A CDKN2A CDK4 BRCA2 BRCA1
10 esophageal cancer 27.5 STK11 MSH2 MLH1 MIR200A MIR196A1 CDKN2A
11 adenocarcinoma 27.4 STK11 MSH6 MSH2 MLH1 CDKN2A CDK4
12 pancreatic adenocarcinoma 27.1 PRSS1 PALLD MLH1 MIR200A MIR196A1 CDKN2A
13 endometrial cancer 26.9 MSH6 MSH2 MLH1 MIR200A CDKN2A CDK4
14 pancreatic cancer 25.9 STK11 PRSS1 PALLD PALB2 MSH2 MLH1
15 melanoma-pancreatic cancer syndrome 12.9
16 obsolete: melanoma-pancreatic cancer syndrome 12.5
17 skin melanoma 10.6
18 erythrokeratoderma ''en cocardes'' 10.4
19 pancreatic ductal adenocarcinoma 10.4
20 vaginal tubulovillous adenoma 10.4 STK11 CDKN2A
21 vaginal adenoma 10.4 STK11 CDKN2A
22 ocular melanoma 10.4
23 vaginal benign neoplasm 10.4 STK11 CDKN2A
24 tracheoesophageal fistula with or without esophageal atresia 10.3 PALB2 BRCA2
25 biliary dyskinesia 10.3 PRSS58 PRSS1
26 hereditary site-specific ovarian cancer syndrome 10.3 BRCA2 BRCA1
27 rare malignant breast tumor 10.3 BRCA2 BRCA1
28 synchronous bilateral breast carcinoma 10.3 BRCA2 BRCA1
29 breast juvenile papillomatosis 10.3 BRCA2 BRCA1
30 familial ovarian cancer 10.3 BRCA2 BRCA1
31 mediastinum liposarcoma 10.3 CDKN2A CDK4
32 cancerophobia 10.3 BRCA2 BRCA1
33 nosophobia 10.3 BRCA2 BRCA1
34 breast-ovarian cancer, familial 2 10.2 BRCA2 BRCA1
35 mediastinum sarcoma 10.2 CDKN2A CDK4
36 endosalpingiosis 10.2 BRCA2 BRCA1
37 breast-ovarian cancer, familial 1 10.2 BRCA2 BRCA1
38 squamous cell carcinoma 10.2
39 infiltrating angiolipoma 10.2 CDKN2A CDK4
40 lentigines 10.2
41 neurofibromatosis, type iv, of riccardi 10.2
42 mutagen sensitivity 10.2 BRCA2 BRCA1
43 dedifferentiated liposarcoma 10.2 CDKN2A CDK4
44 fallopian tube endometrioid adenocarcinoma 10.2 MSH6 CDKN2A
45 primary peritoneal carcinoma 10.2 BRCA2 BRCA1
46 tumor predisposition syndrome 10.1 PALB2 BRCA2
47 peritoneum cancer 10.1 CDKN2A BRCA2 BRCA1
48 ovarian squamous cell carcinoma 10.1 MSH6 CDKN2A
49 breast cancer 10.1
50 beckwith-wiedemann syndrome 10.1

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



Diseases related to Dysplastic Nevus Syndrome
Sources

Symptoms & Phenotypes for Dysplastic Nevus Syndrome

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GenomeRNAi Phenotypes related to Dysplastic Nevus Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 10.03 BRCA1 BRCA2 CDKN2A MLH1 PALB2 STK11
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 10.03 BRCA1 BRCA2 CDKN2A MLH1 PALB2 STK11
3 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.63 BRCA1 BRCA2 MLH1 MSH2 MSH6 PALB2
4 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 8.92 BRCA1 BRCA2 CDK4 MSH2

MGI Mouse Phenotypes related to Dysplastic Nevus Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.07 BRCA1 BRCA2 CDK4 CDKN2A MLH1 MSH2
2 digestive/alimentary MP:0005381 9.87 BRCA1 BRCA2 CDK4 CDKN2A MLH1 MSH2
3 hematopoietic system MP:0005397 9.81 BRCA1 BRCA2 CDK4 CDKN2A MLH1 MSH2
4 embryo MP:0005380 9.8 BRCA1 BRCA2 CDK4 CDKN2A PALB2 PALLD
5 integument MP:0010771 9.61 BRCA1 BRCA2 CDK4 CDKN2A MLH1 MSH2
6 neoplasm MP:0002006 9.28 BRCA1 BRCA2 CDK4 CDKN2A MLH1 MSH2
Sources

Drugs & Therapeutics for Dysplastic Nevus Syndrome

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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 64971
4 Dermatologic Agents Phase 2
5 Keratolytic Agents Phase 2
6 Hormone Antagonists Phase 1, Phase 2
7 Hormones Phase 1, Phase 2
8 Anti-Inflammatory Agents Phase 1, Phase 2
9 Anti-Inflammatory Agents, Non-Steroidal Phase 1, Phase 2
10 Analgesics, Non-Narcotic Phase 1, Phase 2
11 Anti-Retroviral Agents Phase 1, Phase 2
12 Anti-Infective Agents Phase 1, Phase 2
13 Antiparasitic Agents Phase 1, Phase 2
14 Antiprotozoal Agents Phase 1, Phase 2
15 Antimalarials Phase 1, Phase 2
16 Antiviral Agents Phase 1, Phase 2
17 Antirheumatic Agents Phase 1, Phase 2
18 Prostaglandin Antagonists Phase 1, Phase 2
19 Anti-HIV Agents Phase 1, Phase 2
20 Analgesics Phase 1, Phase 2
21
Pancrelipase Approved, Investigational 53608-75-6
22
Secretin Approved 108153-74-8
23
Sulforaphane Investigational Early Phase 1 142825-10-3, 4478-93-7 5350
24 Protective Agents Early Phase 1
25 Sulforafan Early Phase 1
26 pancreatin
27 Gastrointestinal Agents
28
Serine Investigational, Nutraceutical 56-45-1 5951

Interventional clinical trials:

(show all 18)
# Name Status NCT ID Phase Drugs
1 A Phase II Double-Blind Study of Topical Tretinoin With or Without Oral 4-HPR (Fenretinide) in Patients With the Dysplastic Nevus Syndrome Completed NCT00003601 Phase 2 fenretinide;tretinoin
2 Phase I/II Evaluation of Topical Application of 20% Betulinic Acid Ointment in the Treatment of Dysplastic Nevi With Moderate to Severe Dysplasia Suspended NCT00346502 Phase 1, Phase 2 20% betulinic acid ointment;BA
3 Identification of the Genetic Mutation Responsible for Segmental Dysplastic Nevi Unknown status NCT00955578
4 Dermoscopy Evaluation of Pigmented Skin Lesions by a Neuronal Network Clinical Decision Support: an Open Prospective Non Interventional Study Unknown status NCT03362138
5 Using High Resolution Function Imaging To Detect Melanoma and Dysplastic Nevi Completed NCT01118832
6 Prospective Study of 2 mm Margins for the Biopsy of Dysplastic Nevi Completed NCT03094273
7 Potential Research Study Participant Registry Completed NCT00710489
8 A Pilot Study Evaluation of Sulforaphane in Atypical Nevi--Precursor Lesions: Assessment of STAT1 and STAT3 Risk Markers of Melanoma Completed NCT01568996 Early Phase 1 broccoli sprout extract - sulforaphane (BSE-SFN);broccoli sprout extract - sulforaphane (BSE-SFN);broccoli sprout extract - sulforaphane (BSE-SFN)
9 Observational Study to Analyze the Outcomes of Subjects Who - Based Upon Their Sufficiently Elevated Risk for the Development of Pancreatic Adenocarcinoma- Elect to Undergo Early Detection Testing Recruiting NCT02206360
10 The Cancer of the Pancreas Screening-5 CAPS5)Study Recruiting NCT02000089 Human synthetic secretin
11 Pancreas Disease and High Risk Registry Recruiting NCT02775461
12 Italian Registry of Families At Risk of Pancreatic Cancer Recruiting NCT04095195
13 An Online Intervention for Skin Self-Checks Among Individuals at Increased Risk for Melanoma Recruiting NCT03725449
14 A Prospective, Multi-center Investigational Study of IMMrayâ„¢ PanCan-d Diagnostic Assay for Early Detection of Pancreatic Ductal Adenocarcinoma in High-risk Populations Recruiting NCT03693378
15 Clinical, Laboratory, and Epidemiologic Characterization of Individuals and Families at High Risk of Melanoma Recruiting NCT00040352
16 Family Study of Melanoma in Italy Recruiting NCT00339222
17 Skin Lesion Detection With Novel Total Body Digital Photography Smartphone Application Active, not recruiting NCT02740257
18 Pancreatic Cancer Screening of High-Risk Individuals in Arkansas Withdrawn NCT02309632

Search NIH Clinical Center for Dysplastic Nevus Syndrome

Cochrane evidence based reviews: dysplastic nevus syndrome

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Genetic Tests for Dysplastic Nevus Syndrome

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Anatomical Context for Dysplastic Nevus Syndrome

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MalaCards organs/tissues related to Dysplastic Nevus Syndrome:

40
Skin, Breast, Ovary, Pancreas, Colon, Testes, Small Intestine
Sources

Publications for Dysplastic Nevus Syndrome

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Articles related to Dysplastic Nevus Syndrome:

(show top 50) (show all 256)
# Title Authors PMID Year
1
Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion of p16 (p16-Leiden). 54 6
10956390 2000
2
A locus linked to p16 modifies melanoma risk in Dutch familial atypical multiple mole melanoma (FAMMM) syndrome families. 54 6
10400925 1999
3
Homozygotes for CDKN2 (p16) germline mutation in Dutch familial melanoma kindreds. 54 6
7670475 1995
4
ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. 6
25645574 2015
5
Indication for CDKN2A-mutation analysis in familial pancreatic cancer families without melanomas. 6
22636603 2012
6
Predicting functional significance of cancer-associated p16(INK4a) mutations in CDKN2A. 6
20340136 2010
7
Hereditary p16-Leiden mutation in a patient with multiple head and neck tumors. 6
12549483 2003
8
High prevalence of the G101W germline mutation in the CDKN2A (P16(ink4a)) gene in 62 Italian malignant melanoma families. 6
11807902 2002
9
Sporadic multiple primary melanoma cases: CDKN2A germline mutations with a founder effect. 6
11579459 2001
10
A single genetic origin for the G101W CDKN2A mutation in 20 melanoma-prone families. 6
10869234 2000
11
Familial melanoma and pancreatic cancer. Ligurian Skin Tumor Study Group. 6
8552158 1996
12
Brief report: a familial syndrome of pancreatic cancer and melanoma with a mutation in the CDKN2 tumor-suppressor gene. 6
7666917 1995
13
Germline p16 mutations in familial melanoma. 6
7987387 1994
14
Frequent somatic mutation of the MTS1/CDK4I (multiple tumor suppressor/cyclin-dependent kinase 4 inhibitor) gene in esophageal squamous cell carcinoma. 6
8012957 1994
15
Familial atypical multiple mole melanoma (FAMMM) syndrome: history, genetics, and heterogeneity. 52
26892865 2016
16
Analysis of the p16 gene status of non-familial dysplastic nevus syndrome patients. 54 61
11820732 2001
17
Screening of germline mutations in the CDK4, CDKN2C and TP53 genes in familial melanoma: a clinic-based population study. 54 61
9724087 1998
18
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. 54 61
9439668 1997
19
Screening of germline mutations in the CDKN2A and CDKN2B genes in Swedish families with hereditary cutaneous melanoma. 54 61
9168184 1997
20
Malignant transformation of choroidal nevus according to race in 3334 consecutive patients. 61
31755445 2019
21
Skin Cancer: Precancers. 61
31188549 2019
22
Simultaneous long-lasting regression of multiple nevi and melanoma metastases after ipilimumab therapy. 61
31026247 2019
23
Innovations and Innovative Approaches or Pseudo-Innovations in the Context of General Globalization? It's Time to Wake Up! 61
29483969 2018
24
Genomic Characterization of Dysplastic Nevi Unveils Implications for Diagnosis of Melanoma. 61
27890785 2017
25
"Melanoma: Questions and Answers." Development and evaluation of a psycho-educational resource for people with a history of melanoma. 61
27465047 2016
26
Erythematous-violaceous macule on the chest in a patient with dysplastic nevus syndrome. 61
27444088 2016
27
Knowledge about Ultraviolet Radiation Hazards and Tanning Behavior of Cosmetology and Medical Students. 61
27149135 2016
28
Germline CDKN2A mutations in childhood melanoma: a case of melanoma-pancreatic cancer syndrome. 61
26381259 2015
29
Multiple Cutaneous Melanomas and Clinically Atypical Moles in a Patient With a Novel Germline BAP1 Mutation. 61
26154183 2015
30
Immunosuppression is an independent prognostic factor associated with aggressive tumor behavior in cutaneous melanoma. 61
26209220 2015
31
Characterization, treatment, and outcome of uveal melanoma in the first two years of life. 61
25300563 2015
32
Four cases of dysplastic nevus syndrome. 61
25143698 2014
33
Detection of primary melanoma in individuals at extreme high risk: a prospective 5-year follow-up study. 61
24964862 2014
34
Primary uveal melanoma in a 4-year-old black child. 61
24160981 2013
35
On the clinical significance of cutaneous melanoma's precursors. 61
23130279 2012
36
Primary gallbladder melanoma in dysplastic nevus syndrome: report of case and literature review. 61
22287410 2011
37
Melanocyte-specific immune response in a patient with multiple regressing nevi and a history of melanoma. 61
22110189 2011
38
Epidemiology of melanoma. 61
21277533 2010
39
Morphologic features and natural history of scalp nevi in children. 61
20479298 2010
40
Childhood melanoma. 61
19880040 2009
41
Atypical familial presentation of FAMMM syndrome with a high incidence of pancreatic cancer: case finding of asymptomatic individuals by EUS surveillance. 54
19417680 2009
42
Dysplastic nevus syndrome with development of multiple melanomas. A surgical concept for prophylaxis. 61
19456853 2009
43
Novel presentation of a familial pancreatic cancer syndrome. 61
19089513 2009
44
Neurofibromatosis type 1 associated with dysplastic nevus syndrome. 61
19595268 2009
45
Nevi and melanoma in the pregnant woman. 61
19095157 2009
46
Undifferentiated carcinoma with osteoclastic giant cells (UCOCGC) of the pancreas associated with the familial atypical multiple mole melanoma syndrome (FAMMM). 54
18813118 2008
47
Predicting the risk of pancreatic cancer: on CDKN2A mutations in the melanoma-pancreatic cancer syndrome in Italy. 61
18024887 2007
48
Monitoring of kindreds with hereditary predisposition for cutaneous melanoma and dysplastic nevus syndrome: results of a Swedish preventive program. 61
17602087 2007
49
Cutaneous malignant melanoma metastatic to the vitreous. 61
17460596 2007
50
Malignant melanoma in childhood and adolescence: report of 13 cases. 61
16243130 2005
Sources

Variations for Dysplastic Nevus Syndrome

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ClinVar genetic disease variations for Dysplastic Nevus Syndrome:

6 (show top 50) (show all 86) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CDKN2A NM_058195.3(CDKN2A):c.283_296del (p.Thr95fs)deletion Pathogenic 182412 rs730881675 9:21971105-21971118 9:21971106-21971119
2 CDKN2A NM_000077.4(CDKN2A):c.-34G>TSNV Pathogenic 182414 rs1800586 9:21974860-21974860 9:21974861-21974861
3 CDKN2A NM_000077.4(CDKN2A):c.226_244del (p.Ala76fs)deletion Pathogenic,risk factor 9410 rs587776716 9:21971114-21971132 9:21971115-21971133
4 CDKN2A CDKN2A, 5-BP DUP, NT19duplication Pathogenic 37003
5 CDKN2A NM_000077.4(CDKN2A):c.377T>A (p.Val126Asp)SNV Pathogenic 9420 rs104894098 9:21970981-21970981 9:21970982-21970982
6 CDKN2A NM_000077.4(CDKN2A):c.176T>G (p.Val59Gly)SNV Pathogenic/Likely pathogenic 9423 rs104894099 9:21971182-21971182 9:21971183-21971183
7 CDKN2A NM_000077.4(CDKN2A):c.71G>C (p.Arg24Pro)SNV Pathogenic/Likely pathogenic 9415 rs104894097 9:21974756-21974756 9:21974757-21974757
8 CDKN2A NM_000077.4(CDKN2A):c.457G>T (p.Asp153Tyr)SNV Pathogenic/Likely pathogenic 216035 rs45476696 9:21970901-21970901 9:21970902-21970902
9 CDKN2A NM_000077.4(CDKN2A):c.259C>T (p.Arg87Trp)SNV Likely pathogenic 406707 rs749714198 9:21971099-21971099 9:21971100-21971100
10 CDKN2A NM_000077.4(CDKN2A):c.151-4G>CSNV Conflicting interpretations of pathogenicity 141600 rs529380972 9:21971211-21971211 9:21971212-21971212
11 CDKN2A NM_058195.3(CDKN2A):c.92C>G (p.Thr31Arg)SNV Conflicting interpretations of pathogenicity 265298 rs528789830 9:21994239-21994239 9:21994240-21994240
12 CDKN2A NM_000077.4(CDKN2A):c.197A>G (p.His66Arg)SNV Conflicting interpretations of pathogenicity 246117 rs756750256 9:21971161-21971161 9:21971162-21971162
13 CDKN2A NM_000077.4(CDKN2A):c.-34G>CSNV Conflicting interpretations of pathogenicity 245907 rs1800586 9:21974860-21974860 9:21974861-21974861
14 CDKN2A NM_000077.4(CDKN2A):c.301G>T (p.Gly101Trp)SNV Conflicting interpretations of pathogenicity 9412 rs104894094 9:21971057-21971057 9:21971058-21971058
15 CDKN2A NM_000077.4(CDKN2A):c.170C>T (p.Ala57Val)SNV Conflicting interpretations of pathogenicity 220562 rs372266620 9:21971188-21971188 9:21971189-21971189
16 CDKN2A NM_000077.4(CDKN2A):c.-14C>TSNV Conflicting interpretations of pathogenicity 221032 rs764244718 9:21974840-21974840 9:21974841-21974841
17 CDKN2A NM_000077.4(CDKN2A):c.370C>T (p.Arg124Cys)SNV Conflicting interpretations of pathogenicity 231362 rs34170727 9:21970988-21970988 9:21970989-21970989
18 CDKN2A NM_000077.4(CDKN2A):c.250G>A (p.Asp84Asn)SNV Conflicting interpretations of pathogenicity 229806 rs11552822 9:21971108-21971108 9:21971109-21971109
19 CDKN2A NM_000077.4(CDKN2A):c.273G>A (p.Leu91=)SNV Conflicting interpretations of pathogenicity 133882 rs4987127 9:21971085-21971085 9:21971086-21971086
20 CDKN2A NM_000077.4(CDKN2A):c.318G>A (p.Val106=)SNV Conflicting interpretations of pathogenicity 135826 rs199888003 9:21971040-21971040 9:21971041-21971041
21 CDKN2A NM_000077.4(CDKN2A):c.150+37G>CSNV Conflicting interpretations of pathogenicity 41573 rs45456595 9:21974640-21974640 9:21974641-21974641
22 CDKN2A NM_000077.4(CDKN2A):c.373G>C (p.Asp125His)SNV Conflicting interpretations of pathogenicity 41577 rs146179135 9:21970985-21970985 9:21970986-21970986
23 CDKN2A NM_000077.4(CDKN2A):c.146T>C (p.Ile49Thr)SNV Conflicting interpretations of pathogenicity 127523 rs199907548 9:21974681-21974681 9:21974682-21974682
24 CDKN2A NM_000077.4(CDKN2A):c.298G>T (p.Ala100Ser)SNV Conflicting interpretations of pathogenicity 127524 rs200863613 9:21971060-21971060 9:21971061-21971061
25 CDKN2A NM_000077.4(CDKN2A):c.369T>A (p.His123Gln)SNV Conflicting interpretations of pathogenicity 127526 rs6413463 9:21970989-21970989 9:21970990-21970990
26 CDKN2A NM_000077.4(CDKN2A):c.-34G>ASNV Conflicting interpretations of pathogenicity 379882 rs1800586 9:21974860-21974860 9:21974861-21974861
27 CDKN2A NM_000077.4(CDKN2A):c.315C>A (p.Asp105Glu)SNV Uncertain significance 406702 rs763269347 9:21971043-21971043 9:21971044-21971044
28 CDKN2A NM_000077.4(CDKN2A):c.333C>T (p.Gly111=)SNV Uncertain significance 802462 9:21971025-21971025 9:21971026-21971026
29 CDKN2A NM_000077.4(CDKN2A):c.221A>C (p.Asp74Ala)SNV Uncertain significance 802463 9:21971137-21971137 9:21971138-21971138
30 CDKN2A NM_000077.4(CDKN2A):c.220G>C (p.Asp74His)SNV Uncertain significance 802464 9:21971138-21971138 9:21971139-21971139
31 CDKN2A NM_000077.4(CDKN2A):c.150+1104C>ASNV Uncertain significance 220864 rs756102261 9:21973573-21973573 9:21973574-21973574
32 CDKN2A NM_000077.4(CDKN2A):c.365G>T (p.Gly122Val)SNV Uncertain significance 182419 rs373291490 9:21970993-21970993 9:21970994-21970994
33 CDKN2A NM_000077.4(CDKN2A):c.415G>C (p.Gly139Arg)SNV Uncertain significance 216276 rs587781733 9:21970943-21970943 9:21970944-21970944
34 CDKN2A NM_058195.3(CDKN2A):c.194-3611_194-3588delshort repeat Uncertain significance 216277 rs587780668 9:21974795-21974818 9:21974796-21974819
35 CDKN2A NM_058195.3(CDKN2A):c.13T>A (p.Phe5Ile)SNV Uncertain significance 245816 rs776987532 9:21994318-21994318 9:21994319-21994319
36 CDKN2A NM_000077.4(CDKN2A):c.295C>G (p.Arg99Gly)SNV Uncertain significance 372062 rs34886500 9:21971063-21971063 9:21971064-21971064
37 CDKN2A NM_000077.4(CDKN2A):c.427G>A (p.Ala143Thr)SNV Uncertain significance 245681 rs754195015 9:21970931-21970931 9:21970932-21970932
38 CDKN2A NM_000077.4(CDKN2A):c.122C>A (p.Pro41Gln)SNV Uncertain significance 141111 rs373407950 9:21974705-21974705 9:21974706-21974706
39 CDKN2A NM_000077.4(CDKN2A):c.301G>A (p.Gly101Arg)SNV Uncertain significance 463494 rs104894094 9:21971057-21971057 9:21971058-21971058
40 CDKN2A NM_000077.4(CDKN2A):c.160A>C (p.Met54Leu)SNV Uncertain significance 463486 rs201314211 9:21971198-21971198 9:21971199-21971199
41 CDKN2A NM_058195.3(CDKN2A):c.167G>A (p.Gly56Glu)SNV Uncertain significance 463514 rs748327367 9:21994164-21994164 9:21994165-21994165
42 CDKN2A NM_000077.4(CDKN2A):c.331G>A (p.Gly111Ser)SNV Uncertain significance 463499 rs778971134 9:21971027-21971027 9:21971028-21971028
43 CDKN2A NM_000077.4(CDKN2A):c.26T>C (p.Met9Thr)SNV Uncertain significance 483319 rs145445140 9:21974801-21974801 9:21974802-21974802
44 CDKN2A NM_058195.3(CDKN2A):c.79A>C (p.Ile27Leu)SNV Uncertain significance 371881 rs1057517575 9:21994252-21994252 9:21994253-21994253
45 CDKN2A NM_058195.3(CDKN2A):c.69C>A (p.Phe23Leu)SNV Uncertain significance 372023 rs374360796 9:21994262-21994262 9:21994263-21994263
46 CDKN2A NM_058195.3(CDKN2A):c.62G>A (p.Arg21Lys)SNV Uncertain significance 371974 rs1057517601 9:21994269-21994269 9:21994270-21994270
47 CDKN2A NM_058195.3(CDKN2A):c.-33G>ASNV Uncertain significance 372077 rs1057517639 9:21994363-21994363 9:21994364-21994364
48 CDKN2A NM_058195.3(CDKN2A):c.43T>C (p.Cys15Arg)SNV Uncertain significance 548785 rs1554659236 9:21994288-21994288 9:21994289-21994289
49 CDKN2A NM_000077.4(CDKN2A):c.150+82A>GSNV Uncertain significance 584731 rs1231900408 9:21974595-21974595 9:21974596-21974596
50 CDKN2A NM_000077.4(CDKN2A):c.32C>T (p.Pro11Leu)SNV Uncertain significance 584734 rs1374664673 9:21974795-21974795 9:21974796-21974796
Sources

Expression for Dysplastic Nevus Syndrome

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

Pathways for Dysplastic Nevus Syndrome

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Pathways related to Dysplastic Nevus Syndrome according to GeneCards Suite gene sharing:

(show all 18)
# Super pathways Score Top Affiliating Genes
1
DNA Double-Strand Break Repair 65
Show member pathways
 13 PALB2 MSH6 MSH2 MLH1 BRCA2 BRCA1
2
Regulation of TP53 Activity 65
Show member pathways
 12.78 STK11 MSH2 MLH1 CDKN2A BRCA1
3
TCR Signaling (Qiagen) 63
Show member pathways
 12.73 MSH6 MSH2 MLH1 BRCA2 BRCA1
4
Endometrial cancer 36
Show member pathways
 12.66 MSH6 MSH2 MLH1 CDKN2A CDK4 BRCA2
5
Pathways in cancer 36
12.61 MSH6 MSH2 MLH1 CDKN2A CDK4 BRCA2
6
Gastric cancer 36
Show member pathways
 12.57 MLH1 CDKN2A CDK4 BRCA2 BRCA1
7
Chks in Checkpoint Regulation 63
Show member pathways
 12.5 MSH6 MSH2 CDK4 BRCA2 BRCA1
8
Glioma 36
Show member pathways
 12.47 MSH6 CDKN2A CDK4 BRCA2 BRCA1
9
Meiosis 65
Show member pathways
 12.3 MLH1 CDK4 BRCA2 BRCA1
10
Resolution of D-loop Structures through Holliday Junction Intermediates 65
Show member pathways
 11.93 PALB2 BRCA2 BRCA1
11
Mismatch repair 65 1 36
Show member pathways
 11.7 MSH6 MSH2 MLH1
12
Fanconi anemia pathway 36 65
11.64 PALB2 MLH1 BRCA2 BRCA1
13
DNA Damage 4
11.64 MSH6 MSH2 MLH1 CDKN2A CDK4 BRCA2
14
Integrated Breast Cancer Pathway 1
11.62 STK11 MSH6 MSH2 CDK4 BRCA2 BRCA1
15
BRCA1 Pathway 63
Show member pathways
 11.54 MSH6 MSH2 BRCA2 BRCA1
16
Platinum drug resistance 36
11.42 MSH6 MSH2 MLH1 CDKN2A BRCA1
17
Integrated Cancer Pathway 1
11.22 MSH6 MSH2 CDK4 BRCA1
18
Platinum Pathway, Pharmacokinetics/Pharmacodynamics 60
11.1 MSH6 MSH2 MLH1
Sources

GO Terms for Dysplastic Nevus Syndrome

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Cellular components related to Dysplastic Nevus Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.91 STK11 PALB2 MSH6 MSH2 MLH1 CDKN2A
2 lateral element GO:0000800 9.16 BRCA2 BRCA1
3 MutSalpha complex GO:0032301 8.96 MSH6 MSH2
4 mismatch repair complex GO:0032300 8.8 MSH6 MSH2 MLH1

Biological processes related to Dysplastic Nevus Syndrome according to GeneCards Suite gene sharing:

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 cell cycle GO:0007049 9.95 STK11 MLH1 CDKN2A CDK4 BRCA2 BRCA1
2 cell cycle arrest GO:0007050 9.79 STK11 MSH2 CDKN2A
3 double-strand break repair via homologous recombination GO:0000724 9.73 PALB2 BRCA2 BRCA1
4 DNA repair GO:0006281 9.73 PALB2 MSH6 MSH2 MLH1 BRCA2 BRCA1
5 double-strand break repair GO:0006302 9.72 MSH2 BRCA2 BRCA1
6 DNA recombination GO:0006310 9.71 PALB2 MSH2 BRCA2 BRCA1
7 cellular response to DNA damage stimulus GO:0006974 9.7 STK11 PALB2 MSH6 MSH2 MLH1 BRCA2
8 mismatch repair GO:0006298 9.63 MSH6 MSH2 MLH1
9 response to X-ray GO:0010165 9.62 MSH2 BRCA2
10 determination of adult lifespan GO:0008340 9.61 MSH6 MSH2
11 negative regulation of DNA recombination GO:0045910 9.6 MSH6 MSH2
12 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.59 BRCA2 BRCA1
13 inner cell mass cell proliferation GO:0001833 9.58 PALB2 BRCA2
14 postreplication repair GO:0006301 9.58 MSH2 BRCA1
15 positive regulation of isotype switching to IgG isotypes GO:0048304 9.57 MSH2 MLH1
16 positive regulation of helicase activity GO:0051096 9.54 MSH6 MSH2
17 isotype switching GO:0045190 9.54 MSH6 MSH2 MLH1
18 positive regulation of isotype switching to IgA isotypes GO:0048298 9.52 MSH2 MLH1
19 maintenance of DNA repeat elements GO:0043570 9.51 MSH6 MSH2
20 somatic hypermutation of immunoglobulin genes GO:0016446 9.5 MSH6 MSH2 MLH1
21 chordate embryonic development GO:0043009 9.49 BRCA2 BRCA1
22 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.43 MSH2 MLH1
23 somatic recombination of immunoglobulin gene segments GO:0016447 9.13 MSH6 MSH2 MLH1
24 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.02 MSH6 MSH2 MLH1 BRCA2 BRCA1

Molecular functions related to Dysplastic Nevus Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 9.78 MSH6 MSH2 MLH1 BRCA1
2 single-stranded DNA binding GO:0003697 9.61 MSH2 MLH1 BRCA2
3 damaged DNA binding GO:0003684 9.5 MSH6 MSH2 BRCA1
4 four-way junction DNA binding GO:0000400 9.46 MSH6 MSH2
5 MutLalpha complex binding GO:0032405 9.4 MSH6 MSH2
6 oxidized purine DNA binding GO:0032357 9.37 MSH6 MSH2
7 single guanine insertion binding GO:0032142 9.26 MSH6 MSH2
8 single thymine insertion binding GO:0032143 9.16 MSH6 MSH2
9 mismatched DNA binding GO:0030983 9.13 MSH6 MSH2 MLH1
10 guanine/thymine mispair binding GO:0032137 8.8 MSH6 MSH2 MLH1
Sources

Sources for Dysplastic Nevus Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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