MCID: DYS002
MIFTS: 37

Dysplastic Nevus Syndrome

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

Aliases & Classifications for Dysplastic Nevus Syndrome

MalaCards integrated aliases for Dysplastic Nevus Syndrome:

Name: Dysplastic Nevus Syndrome 12 77 56 45 15 74
Melanoma-Pancreatic Cancer Syndrome 54 60 74
Familial Atypical Multiple Mole Melanoma-Pancreatic Carcinoma Syndrome 54 60
Familial Atypical Multiple Mole Melanoma Syndrome 54 60
Familial Atypical Multiple Mole-Melanoma 12 74
Familial Atypical Mole Melanoma Syndrome 54 74
Familial Dysplastic Nevus Syndrome 54 60
Familial Atypical Mole Syndrome 54 60
Familial Clark Nevus Syndrome 54 60
B-K Mole Syndrome 54 60
Famm-Pc Syndrome 54 60
Fammm Syndrome 54 60
Familial Atypical Multiple Mole Melanoma-Pancreatic Carcinoma 54
Familial Atypical Multiple Mole Melanoma 56
Dysplastic Nevus 17
Famm Syndrome 12

Characteristics:

Orphanet epidemiological data:

60
familial atypical multiple mole melanoma syndrome
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood; Age of death: adult;

Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:10041
MeSH 45 D004416
ICD10 via Orphanet 35 D22.9
UMLS via Orphanet 75 C0013403 C0205747 C1838547 more
Orphanet 60 ORPHA404560

Summaries for Dysplastic Nevus Syndrome

NIH Rare Diseases : 54 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 : 77 Dysplastic nevus syndrome is a cutaneous condition described in certain families, and characterized by... more...

Related Diseases for Dysplastic Nevus Syndrome

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

(show all 42)
# Related Disease Score Top Affiliating Genes
1 melanoma-pancreatic cancer syndrome 12.8
2 melanoma, cutaneous malignant 1 11.5
3 melanoma 10.8
4 skin melanoma 10.5
5 beckwith-wiedemann syndrome 10.1
6 birt-hogg-dube syndrome 10.1
7 incontinentia pigmenti 10.1
8 pancreatic ductal adenocarcinoma 10.1
9 adenocarcinoma 10.1
10 pancreatic cancer 10.1
11 basal cell nevus syndrome 10.1
12 keratosis 10.1
13 salivary gland carcinoma 10.1 CDKN2A TNN
14 neurofibroma 10.0
15 glycogen-rich clear cell breast carcinoma 10.0 BRCA2 CDKN2A
16 breast giant fibroadenoma 10.0 BRCA2 CDKN2A
17 pre-malignant neoplasm 10.0 BRCA2 CDKN2A
18 ocular cancer 10.0 BRCA2 CDKN2A
19 melanoma, uveal 9.9
20 neurofibromatosis, type i 9.9
21 neurofibromatosis, type iv, of riccardi 9.9
22 mycosis fungoides 9.9
23 polycythemia vera 9.9
24 oculocutaneous albinism 9.9
25 primary hyperparathyroidism 9.9
26 hyperparathyroidism 9.9
27 ocular melanoma 9.9
28 skin carcinoma 9.9
29 gallbladder melanoma 9.9
30 polycythemia 9.9
31 albinism 9.9
32 female reproductive system disease 9.9 BRCA2 CDKN2A
33 lipomatosis 9.9
34 reproductive system disease 9.9 BRCA2 CDKN2A
35 lentigines 9.9
36 leukemia 9.9
37 myeloid leukemia 9.9
38 lichen planus 9.9
39 li-fraumeni syndrome 9.9 BRCA2 CDKN2A
40 endocrine gland cancer 9.8 BRCA2 CDKN2A
41 pancreas adenocarcinoma 9.7 BRCA2 CDKN2A PALLD
42 lynch syndrome 9.7 BRCA2 CDKN2A

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

Interventional clinical trials:

(show all 15)
# 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 Genetic Identification (ID) of Segmental Dysplastic Nevi Unknown status NCT00955578
4 Clinical, Laboratory, and Epidemiologic Characterization of Individuals and Families at High Risk of Melanoma Recruiting NCT00040352
5 Internet-based Intervention for Skin Self-Examination in Participants With Increased Risk for Melanoma Not yet recruiting NCT03725449 Not Applicable
6 Using High Resolution Function Imaging To Detect Melanoma and Dysplastic Nevi Completed NCT01118832
7 Smartphone Application to Detect Skin Lesions Active, not recruiting NCT02740257
8 Artificial Intelligence-assisted Evaluation of Pigmented Skin Lesions Recruiting NCT03362138
9 Prospective Study of 2 mm Margins for the Biopsy of Dysplastic Nevi Completed NCT03094273
10 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)
11 Family Study of Melanoma in Italy Recruiting NCT00339222
12 A Study of IMMray™ PanCan-d Test for Early Detection of Pancreatic Cancer in High-risk Groups Recruiting NCT03693378
13 Pancreatic Cancer Screening of High-Risk Individuals in Arkansas Active, not recruiting NCT02309632 Not Applicable
14 Pancreatic Cancer Early Detection Program Recruiting NCT02206360
15 Potential Research Study Participant Registry Completed NCT00710489

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:

42
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 115)
# Gene Variation Type Significance SNP ID Assembly Location
1 CDKN2A NM_000077.4(CDKN2A): c.240_253delACCCGTGCACGACG (p.Pro81Cysfs) deletion Pathogenic rs730881675 GRCh38 Chromosome 9, 21971106: 21971119
2 CDKN2A NM_000077.4(CDKN2A): c.240_253delACCCGTGCACGACG (p.Pro81Cysfs) deletion Pathogenic rs730881675 GRCh37 Chromosome 9, 21971105: 21971118
3 CDKN2A NM_000077.4(CDKN2A): c.-34G> T single nucleotide variant Pathogenic rs1800586 GRCh38 Chromosome 9, 21974861: 21974861
4 CDKN2A NM_000077.4(CDKN2A): c.-34G> T single nucleotide variant Pathogenic rs1800586 GRCh37 Chromosome 9, 21974860: 21974860
5 CDKN2A NM_058195.3(CDKN2A): c.-28C> G single nucleotide variant Likely benign rs149253558 GRCh38 Chromosome 9, 21994359: 21994359
6 CDKN2A NM_058195.3(CDKN2A): c.-28C> G single nucleotide variant Likely benign rs149253558 GRCh37 Chromosome 9, 21994358: 21994358
7 CDKN2A NM_000077.4(CDKN2A): c.384G> A (p.Arg128=) single nucleotide variant Benign/Likely benign rs199901898 GRCh38 Chromosome 9, 21970975: 21970975
8 CDKN2A NM_000077.4(CDKN2A): c.384G> A (p.Arg128=) single nucleotide variant Benign/Likely benign rs199901898 GRCh37 Chromosome 9, 21970974: 21970974
9 CDKN2A NM_000077.4(CDKN2A): c.457G> T (p.Asp153Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs45476696 GRCh38 Chromosome 9, 21970902: 21970902
10 CDKN2A NM_000077.4(CDKN2A): c.457G> T (p.Asp153Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs45476696 GRCh37 Chromosome 9, 21970901: 21970901
11 CDKN2A NM_000077.4(CDKN2A): c.415G> C (p.Gly139Arg) single nucleotide variant Uncertain significance rs587781733 GRCh38 Chromosome 9, 21970944: 21970944
12 CDKN2A NM_000077.4(CDKN2A): c.415G> C (p.Gly139Arg) single nucleotide variant Uncertain significance rs587781733 GRCh37 Chromosome 9, 21970943: 21970943
13 CDKN2A NM_000077.4(CDKN2A): c.9_32del24 (p.Ala4_Pro11del) deletion Uncertain significance rs587780668 GRCh37 Chromosome 9, 21974795: 21974818
14 CDKN2A NM_000077.4(CDKN2A): c.9_32del24 (p.Ala4_Pro11del) deletion Uncertain significance rs587780668 GRCh38 Chromosome 9, 21974796: 21974819
15 CDKN2A NM_000077.4(CDKN2A): c.150+1104C> A single nucleotide variant Uncertain significance rs756102261 GRCh38 Chromosome 9, 21973574: 21973574
16 CDKN2A NM_000077.4(CDKN2A): c.150+1104C> A single nucleotide variant Uncertain significance rs756102261 GRCh37 Chromosome 9, 21973573: 21973573
17 CDKN2A NM_000077.4(CDKN2A): c.-14C> T single nucleotide variant Conflicting interpretations of pathogenicity rs764244718 GRCh38 Chromosome 9, 21974841: 21974841
18 CDKN2A NM_000077.4(CDKN2A): c.-14C> T single nucleotide variant Conflicting interpretations of pathogenicity rs764244718 GRCh37 Chromosome 9, 21974840: 21974840
19 CDKN2A NM_000077.4(CDKN2A): c.226_244del19 (p.Ala76Cysfs) deletion Pathogenic,risk factor rs587776716 GRCh37 Chromosome 9, 21971114: 21971132
20 CDKN2A NM_000077.4(CDKN2A): c.226_244del19 (p.Ala76Cysfs) deletion Pathogenic,risk factor rs587776716 GRCh38 Chromosome 9, 21971115: 21971133
21 CDKN2A NM_000077.4(CDKN2A): c.301G> T (p.Gly101Trp) single nucleotide variant risk factor rs104894094 GRCh37 Chromosome 9, 21971057: 21971057
22 CDKN2A NM_000077.4(CDKN2A): c.301G> T (p.Gly101Trp) single nucleotide variant risk factor rs104894094 GRCh38 Chromosome 9, 21971058: 21971058
23 CDKN2A NM_000077.4(CDKN2A): c.71G> C (p.Arg24Pro) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs104894097 GRCh37 Chromosome 9, 21974756: 21974756
24 CDKN2A NM_000077.4(CDKN2A): c.71G> C (p.Arg24Pro) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs104894097 GRCh38 Chromosome 9, 21974757: 21974757
25 CDKN2A NM_000077.4(CDKN2A): c.377T> A (p.Val126Asp) single nucleotide variant Pathogenic rs104894098 GRCh37 Chromosome 9, 21970981: 21970981
26 CDKN2A NM_000077.4(CDKN2A): c.377T> A (p.Val126Asp) single nucleotide variant Pathogenic rs104894098 GRCh38 Chromosome 9, 21970982: 21970982
27 CDKN2A NM_000077.4(CDKN2A): c.176T> G (p.Val59Gly) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs104894099 GRCh37 Chromosome 9, 21971182: 21971182
28 CDKN2A NM_000077.4(CDKN2A): c.176T> G (p.Val59Gly) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs104894099 GRCh38 Chromosome 9, 21971183: 21971183
29 CDKN2A CDKN2A, 5-BP DUP, NT19 duplication Pathogenic
30 CDKN2A NM_000077.4(CDKN2A): c.150+37G> C single nucleotide variant Conflicting interpretations of pathogenicity rs45456595 GRCh37 Chromosome 9, 21974640: 21974640
31 CDKN2A NM_000077.4(CDKN2A): c.150+37G> C single nucleotide variant Conflicting interpretations of pathogenicity rs45456595 GRCh38 Chromosome 9, 21974641: 21974641
32 CDKN2A NM_000077.4(CDKN2A): c.373G> C (p.Asp125His) single nucleotide variant Uncertain significance rs146179135 GRCh37 Chromosome 9, 21970985: 21970985
33 CDKN2A NM_000077.4(CDKN2A): c.373G> C (p.Asp125His) single nucleotide variant Uncertain significance rs146179135 GRCh38 Chromosome 9, 21970986: 21970986
34 CDKN2A NM_000077.4(CDKN2A): c.379G> T (p.Ala127Ser) single nucleotide variant Benign/Likely benign rs6413464 GRCh37 Chromosome 9, 21970979: 21970979
35 CDKN2A NM_000077.4(CDKN2A): c.379G> T (p.Ala127Ser) single nucleotide variant Benign/Likely benign rs6413464 GRCh38 Chromosome 9, 21970980: 21970980
36 CDKN2A NM_000077.4(CDKN2A): c.430C> T (p.Arg144Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs116150891 GRCh37 Chromosome 9, 21970928: 21970928
37 CDKN2A NM_000077.4(CDKN2A): c.430C> T (p.Arg144Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs116150891 GRCh38 Chromosome 9, 21970929: 21970929
38 CDKN2A NM_000077.4(CDKN2A): c.442G> A (p.Ala148Thr) single nucleotide variant Benign rs3731249 GRCh37 Chromosome 9, 21970916: 21970916
39 CDKN2A NM_000077.4(CDKN2A): c.442G> A (p.Ala148Thr) single nucleotide variant Benign rs3731249 GRCh38 Chromosome 9, 21970917: 21970917
40 CDKN2A NM_000077.4(CDKN2A): c.-25C> T single nucleotide variant Benign/Likely benign rs144481587 GRCh37 Chromosome 9, 21974851: 21974851
41 CDKN2A NM_000077.4(CDKN2A): c.-25C> T single nucleotide variant Benign/Likely benign rs144481587 GRCh38 Chromosome 9, 21974852: 21974852
42 CDKN2A NM_000077.4(CDKN2A): c.146T> C (p.Ile49Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs199907548 GRCh37 Chromosome 9, 21974681: 21974681
43 CDKN2A NM_000077.4(CDKN2A): c.146T> C (p.Ile49Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs199907548 GRCh38 Chromosome 9, 21974682: 21974682
44 CDKN2A NM_000077.4(CDKN2A): c.369T> A (p.His123Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs6413463 GRCh37 Chromosome 9, 21970989: 21970989
45 CDKN2A NM_000077.4(CDKN2A): c.369T> A (p.His123Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs6413463 GRCh38 Chromosome 9, 21970990: 21970990
46 CDKN2A NM_000077.4(CDKN2A): c.174A> C (p.Arg58=) single nucleotide variant Benign/Likely benign rs201208890 GRCh37 Chromosome 9, 21971184: 21971184
47 CDKN2A NM_000077.4(CDKN2A): c.174A> C (p.Arg58=) single nucleotide variant Benign/Likely benign rs201208890 GRCh38 Chromosome 9, 21971185: 21971185
48 CDKN2A NM_000077.4(CDKN2A): c.458-491C> T single nucleotide variant Benign rs181044510 GRCh37 Chromosome 9, 21968732: 21968732
49 CDKN2A NM_000077.4(CDKN2A): c.458-491C> T single nucleotide variant Benign rs181044510 GRCh38 Chromosome 9, 21968733: 21968733
50 CDKN2A NM_000077.4(CDKN2A): c.458-492G> C single nucleotide variant Likely benign rs527814073 GRCh37 Chromosome 9, 21968733: 21968733

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

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

# Name GO ID Score Top Affiliating Genes
1 dendrite self-avoidance GO:0070593 8.62 PALLD TNN

Sources for Dysplastic Nevus Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
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35 ICD10 via Orphanet
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63 PubMed
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
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