MCID: DYS002
MIFTS: 38

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 breast.

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 45)
# 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 ocular melanoma 10.3
6 melanoma, cutaneous malignant 2 10.3
7 beckwith-wiedemann syndrome 10.1
8 birt-hogg-dube syndrome 10.1
9 incontinentia pigmenti 10.1
10 pancreatic ductal adenocarcinoma 10.1
11 adenocarcinoma 10.1
12 pancreatic cancer 10.1
13 basal cell nevus syndrome 10.1
14 melanoma in congenital melanocytic nevus 10.1
15 keratosis 10.1
16 neurofibroma 10.0
17 salivary gland carcinoma 10.0 CDKN2A TNN
18 glycogen-rich clear cell breast carcinoma 10.0 BRCA2 CDKN2A
19 breast giant fibroadenoma 10.0 BRCA2 CDKN2A
20 pre-malignant neoplasm 10.0 BRCA2 CDKN2A
21 ocular cancer 10.0 BRCA2 CDKN2A
22 melanoma, uveal 9.9
23 neurofibromatosis, type i 9.9
24 neurofibromatosis, type iv, of riccardi 9.9
25 mycosis fungoides 9.9
26 polycythemia vera 9.9
27 oculocutaneous albinism 9.9
28 primary hyperparathyroidism 9.9
29 hyperparathyroidism 9.9
30 skin carcinoma 9.9
31 gallbladder melanoma 9.9
32 polycythemia 9.9
33 albinism 9.9
34 female reproductive system disease 9.9 BRCA2 CDKN2A
35 lipomatosis 9.9
36 lentigines 9.9
37 keratosis, seborrheic 9.9
38 leukemia 9.9
39 myeloid leukemia 9.9
40 lichen planus 9.9
41 reproductive system disease 9.9 BRCA2 CDKN2A
42 li-fraumeni syndrome 9.9 BRCA2 CDKN2A
43 endocrine gland cancer 9.8 BRCA2 CDKN2A
44 pancreas adenocarcinoma 9.8 BRCA2 CDKN2A PALLD
45 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 444795 5538
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 Analgesics, Non-Narcotic Phase 1, Phase 2
7 Hormones Phase 1, Phase 2
8 Anti-HIV Agents Phase 1, Phase 2
9 Hormone Antagonists Phase 1, Phase 2
10 Anti-Retroviral Agents Phase 1, Phase 2
11 Antiviral Agents Phase 1, Phase 2
12 Antirheumatic Agents Phase 1, Phase 2
13 Analgesics Phase 1, Phase 2
14 Anti-Inflammatory Agents Phase 1, Phase 2
15 Prostaglandin Antagonists Phase 1, Phase 2
16 Antimalarials Phase 1, Phase 2
17 Anti-Infective Agents Phase 1, Phase 2
18 Antineoplastic Agents, Phytogenic Phase 1, Phase 2
19 Antiparasitic Agents Phase 1, Phase 2
20 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
21 Peripheral Nervous System Agents Phase 1, Phase 2
22 Anti-Inflammatory Agents, Non-Steroidal Phase 1, Phase 2
23 Antiprotozoal Agents 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 Using High Resolution Function Imaging To Detect Melanoma and Dysplastic Nevi Completed NCT01118832
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 Potential Research Study Participant Registry Completed NCT00710489
8 Clinical, Laboratory, and Epidemiologic Characterization of Individuals and Families at High Risk of Melanoma Recruiting NCT00040352
9 Artificial Intelligence-assisted Evaluation of Pigmented Skin Lesions Recruiting NCT03362138
10 Family Study of Melanoma in Italy Recruiting NCT00339222
11 A Study of IMMray™ PanCan-d Test for Early Detection of Pancreatic Cancer in High-risk Groups Recruiting NCT03693378
12 Pancreatic Cancer Early Detection Program Recruiting NCT02206360
13 Smartphone Application to Detect Skin Lesions Active, not recruiting NCT02740257
14 Pancreatic Cancer Screening of High-Risk Individuals in Arkansas Active, not recruiting NCT02309632 Not Applicable
15 Internet-based Intervention for Skin Self-Examination in Participants With Increased Risk for Melanoma Not yet recruiting NCT03725449 Not Applicable

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, Breast, Testis, Pancreas, Myeloid, Salivary Gland

Publications for Dysplastic Nevus Syndrome

Articles related to Dysplastic Nevus Syndrome:

(show top 50) (show all 110)
# Title Authors Year
1
Erythematous-violaceous macule on the chest in a patient with dysplastic nevus syndrome. ( 27444088 )
2016
2
Germline CDKN2A mutations in childhood melanoma: a case of melanoma-pancreatic cancer syndrome. ( 26381259 )
2015
3
Four cases of dysplastic nevus syndrome. ( 25143698 )
2014
4
Primary gallbladder melanoma in dysplastic nevus syndrome: report of case and literature review. ( 22287410 )
2011
5
Neurofibromatosis type 1 associated with dysplastic nevus syndrome. ( 19595268 )
2009
6
Dysplastic nevus syndrome with development of multiple melanomas. A surgical concept for prophylaxis. ( 19456853 )
2009
7
Monitoring of kindreds with hereditary predisposition for cutaneous melanoma and dysplastic nevus syndrome: results of a Swedish preventive program. ( 17602087 )
2007
8
Predicting the risk of pancreatic cancer: on CDKN2A mutations in the melanoma-pancreatic cancer syndrome in Italy. ( 18024887 )
2007
9
Mycosis fungoides associated with malignant melanoma and dysplastic nevus syndrome. ( 12708999 )
2003
10
"Dysplastic nevus" syndrome: does a survey make it real? ( 12637934 )
2003
11
"Dysplastic nevus" syndrome: does a survey make it real? ( 12637933 )
2003
12
"Dysplastic nevus" syndrome: does a survey make it real? ( 12637932 )
2003
13
Analysis of the p16 gene status of non-familial dysplastic nevus syndrome patients. ( 11820732 )
2001
14
Melanoma in situ of the oral mucosa in an adolescent with dysplastic nevus syndrome. ( 10775869 )
2000
15
The dangers of atypical mole (dysplastic nevus) syndrome. Teaching at-risk patients to protect themselves from melanoma. ( 10376056 )
1999
16
Interferon alfa-2b-induced Meyerson's nevi in a patient with dysplastic nevus syndrome. ( 9922023 )
1999
17
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
18
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
19
Basal cell nevus syndrome and dysplastic nevus syndrome: investigation of gene expression by differential hybridization. ( 8818188 )
1996
20
[Clinico-genetic aspects of cutaneous melanoma. II. Interconnection and pathogenetic commonality with dysplastic nevus syndrome]. ( 8666223 )
1995
21
Prevalence of primary acquired melanosis and nevi of the conjunctiva and uvea in the dysplastic nevus syndrome. A case-control study. ( 9097801 )
1995
22
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
23
A potential laboratory test for dysplastic nevus syndrome: ultraviolet hypermutability of a shuttle vector plasmid. ( 8027583 )
1994
24
Hereditary melanoma and dysplastic nevus syndrome. ( 7863111 )
1994
25
Conjunctival and uveal melanoma in the dysplastic nevus syndrome. ( 8484171 )
1993
26
A rational approach to the understanding and management of the dysplastic nevus syndrome concept. ( 8416135 )
1993
27
Segregation analysis in cutaneous malignant melanoma/dysplastic nevus syndrome families. ( 1737509 )
1992
28
Regressive logistic models in linkage analysis of the cutaneous malignant melanoma-dysplastic nevus syndrome. ( 1737497 )
1992
29
Dysplastic nevi and the dysplastic nevus syndrome. ( 1730167 )
1992
30
Dysplastic nevus syndrome among Japanese. A case study and review of the Japanese literature. ( 1510212 )
1992
31
Dysplastic nevus syndrome: intrafamilial identification of carriers by cytogenetics. ( 1392119 )
1992
32
Dysplastic nevus syndrome: melanoma-prone disease. ( 1363425 )
1992
33
Dysplastic nevus syndrome: a review. ( 2062297 )
1991
34
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
35
A relation between childhood sun exposure and dysplastic nevus syndrome among patients with nonfamilial melanoma. ( 2054404 )
1991
36
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
37
Prospective follow-up for malignant melanoma in patients with atypical-mole (dysplastic-nevus) syndrome. ( 1991880 )
1991
38
An appraisal of the dysplastic nevus syndrome concept. ( 1983959 )
1991
39
Ocular findings in patients with dysplastic nevus syndrome. An update. ( 1934647 )
1991
40
Pregnancy and sex steroid hormone effects on nevi of patients with the dysplastic nevus syndrome. ( 1918487 )
1991
41
Dysplastic nevi. Occurrence in first- and second-degree relatives of patients with 'sporadic' dysplastic nevus syndrome. ( 1892403 )
1991
42
Inheritance of nevus number and size in melanoma and dysplastic nevus syndrome kindreds. ( 1770551 )
1991
43
Evidence against the reported linkage of the cutaneous melanoma-dysplastic nevus syndrome locus to chromosome Ip36. ( 2339690 )
1990
44
Reply: the dysplastic nevus "syndrome" is not a dichotomic, but a continuous phenotype. ( 2309775 )
1990
45
Ocular melanoma in families with dysplastic nevus syndrome. ( 2254470 )
1990
46
Increased epidermal growth factor receptors in seborrheic keratoses and acrochordons of patients with the dysplastic nevus syndrome. ( 2148753 )
1990
47
Diagnosis and management of dysplastic nevus syndrome and early melanoma. ( 2144182 )
1990
48
Mutation rate estimates are not compatible with autosomal dominant inheritance of the dysplastic nevus "syndrome". ( 2929655 )
1989
49
Ultraviolet mutagenesis in a plasmid vector replicated in lymphoid cells from patient with the melanoma-prone disorder dysplastic nevus syndrome. ( 2790806 )
1989
50
Diminished cutaneous hair density in dysplastic nevus syndrome. ( 2774611 )
1989

Variations for Dysplastic Nevus Syndrome

ClinVar genetic disease variations for Dysplastic Nevus Syndrome:

6 (show top 50) (show all 119)
# Gene Variation Type Significance SNP ID Assembly Location
1 CDKN2A NM_000077.4(CDKN2A): c.365G> T (p.Gly122Val) single nucleotide variant Uncertain significance rs373291490 GRCh38 Chromosome 9, 21970994: 21970994
2 CDKN2A NM_000077.4(CDKN2A): c.365G> T (p.Gly122Val) single nucleotide variant Uncertain significance rs373291490 GRCh37 Chromosome 9, 21970993: 21970993
3 CDKN2A NM_000077.4(CDKN2A): c.240_253delACCCGTGCACGACG (p.Pro81Cysfs) deletion Pathogenic rs730881675 GRCh38 Chromosome 9, 21971106: 21971119
4 CDKN2A NM_000077.4(CDKN2A): c.240_253delACCCGTGCACGACG (p.Pro81Cysfs) deletion Pathogenic rs730881675 GRCh37 Chromosome 9, 21971105: 21971118
5 CDKN2A NM_058195.3(CDKN2A): c.43T> C (p.Cys15Arg) single nucleotide variant Uncertain significance rs1554659236 GRCh38 Chromosome 9, 21994289: 21994289
6 CDKN2A NM_058195.3(CDKN2A): c.43T> C (p.Cys15Arg) single nucleotide variant Uncertain significance rs1554659236 GRCh37 Chromosome 9, 21994288: 21994288
7 CDKN2A NM_058195.3(CDKN2A): c.193+7A> G single nucleotide variant Likely benign rs770519197 GRCh38 Chromosome 9, 21994132: 21994132
8 CDKN2A NM_058195.3(CDKN2A): c.193+7A> G single nucleotide variant Likely benign rs770519197 GRCh37 Chromosome 9, 21994131: 21994131
9 CDKN2A NM_000077.4(CDKN2A): c.-33G> C single nucleotide variant Likely benign rs531597737 GRCh38 Chromosome 9, 21974860: 21974860
10 CDKN2A NM_000077.4(CDKN2A): c.-33G> C single nucleotide variant Likely benign rs531597737 GRCh37 Chromosome 9, 21974859: 21974859
11 CDKN2A NM_058197.4(CDKN2A): c.320dup (p.Ala109Glyfs) duplication Likely benign rs753316964 GRCh38 Chromosome 9, 21974508: 21974508
12 CDKN2A NM_058197.4(CDKN2A): c.320dup (p.Ala109Glyfs) duplication Likely benign rs753316964 GRCh37 Chromosome 9, 21974507: 21974507
13 CDKN2A NM_000077.4(CDKN2A): c.331G> A (p.Gly111Ser) single nucleotide variant Uncertain significance rs778971134 GRCh38 Chromosome 9, 21971028: 21971028
14 CDKN2A NM_000077.4(CDKN2A): c.331G> A (p.Gly111Ser) single nucleotide variant Uncertain significance rs778971134 GRCh37 Chromosome 9, 21971027: 21971027
15 CDKN2A NM_058195.3(CDKN2A): c.167G> A (p.Gly56Glu) single nucleotide variant Uncertain significance rs748327367 GRCh38 Chromosome 9, 21994165: 21994165
16 CDKN2A NM_058195.3(CDKN2A): c.167G> A (p.Gly56Glu) single nucleotide variant Uncertain significance rs748327367 GRCh37 Chromosome 9, 21994164: 21994164
17 CDKN2A NM_000077.4(CDKN2A): c.301G> A (p.Gly101Arg) single nucleotide variant Uncertain significance rs104894094 GRCh38 Chromosome 9, 21971058: 21971058
18 CDKN2A NM_000077.4(CDKN2A): c.301G> A (p.Gly101Arg) single nucleotide variant Uncertain significance rs104894094 GRCh37 Chromosome 9, 21971057: 21971057
19 CDKN2A NM_000077.4(CDKN2A): c.-19413C> G single nucleotide variant Conflicting interpretations of pathogenicity rs528789830 GRCh38 Chromosome 9, 21994240: 21994240
20 CDKN2A NM_000077.4(CDKN2A): c.-19413C> G single nucleotide variant Conflicting interpretations of pathogenicity rs528789830 GRCh37 Chromosome 9, 21994239: 21994239
21 CDKN2A NM_000077.4(CDKN2A): c.-19492T> A single nucleotide variant Uncertain significance rs776987532 GRCh37 Chromosome 9, 21994318: 21994318
22 CDKN2A NM_000077.4(CDKN2A): c.-19492T> A single nucleotide variant Uncertain significance rs776987532 GRCh38 Chromosome 9, 21994319: 21994319
23 CDKN2A NM_000077.4(CDKN2A): c.-34G> C single nucleotide variant Conflicting interpretations of pathogenicity rs1800586 GRCh38 Chromosome 9, 21974861: 21974861
24 CDKN2A NM_000077.4(CDKN2A): c.-34G> C single nucleotide variant Conflicting interpretations of pathogenicity rs1800586 GRCh37 Chromosome 9, 21974860: 21974860
25 CDKN2A NM_000077.4(CDKN2A): c.427G> A (p.Ala143Thr) single nucleotide variant Uncertain significance rs754195015 GRCh37 Chromosome 9, 21970931: 21970931
26 CDKN2A NM_000077.4(CDKN2A): c.427G> A (p.Ala143Thr) single nucleotide variant Uncertain significance rs754195015 GRCh38 Chromosome 9, 21970932: 21970932
27 CDKN2A NM_000077.4(CDKN2A): c.384G> A (p.Arg128=) single nucleotide variant Benign/Likely benign rs199901898 GRCh38 Chromosome 9, 21970975: 21970975
28 CDKN2A NM_000077.4(CDKN2A): c.384G> A (p.Arg128=) single nucleotide variant Benign/Likely benign rs199901898 GRCh37 Chromosome 9, 21970974: 21970974
29 CDKN2A NM_058195.3(CDKN2A): c.-28C> G single nucleotide variant Likely benign rs149253558 GRCh37 Chromosome 9, 21994358: 21994358
30 CDKN2A NM_058195.3(CDKN2A): c.-28C> G single nucleotide variant Likely benign rs149253558 GRCh38 Chromosome 9, 21994359: 21994359
31 CDKN2A NM_000077.4(CDKN2A): c.-34G> T single nucleotide variant Pathogenic rs1800586 GRCh37 Chromosome 9, 21974860: 21974860
32 CDKN2A NM_000077.4(CDKN2A): c.-34G> T single nucleotide variant Pathogenic rs1800586 GRCh38 Chromosome 9, 21974861: 21974861
33 CDKN2A NM_058195.3(CDKN2A): c.194-4G> C single nucleotide variant Conflicting interpretations of pathogenicity rs529380972 GRCh38 Chromosome 9, 21971212: 21971212
34 CDKN2A NM_058195.3(CDKN2A): c.194-4G> C single nucleotide variant Conflicting interpretations of pathogenicity rs529380972 GRCh37 Chromosome 9, 21971211: 21971211
35 CDKN2A NM_000077.4(CDKN2A): c.-2G> A single nucleotide variant Benign/Likely benign rs191394143 GRCh38 Chromosome 9, 21974829: 21974829
36 CDKN2A NM_000077.4(CDKN2A): c.-2G> A single nucleotide variant Benign/Likely benign rs191394143 GRCh37 Chromosome 9, 21974828: 21974828
37 CDKN2A NM_000077.4(CDKN2A): c.122C> A (p.Pro41Gln) single nucleotide variant Uncertain significance rs373407950 GRCh38 Chromosome 9, 21974706: 21974706
38 CDKN2A NM_000077.4(CDKN2A): c.122C> A (p.Pro41Gln) single nucleotide variant Uncertain significance rs373407950 GRCh37 Chromosome 9, 21974705: 21974705
39 CDKN2A NM_000077.4(CDKN2A): c.-19436C> T single nucleotide variant Benign/Likely benign rs374360796 GRCh38 Chromosome 9, 21994263: 21994263
40 CDKN2A NM_000077.4(CDKN2A): c.-19436C> T single nucleotide variant Benign/Likely benign rs374360796 GRCh37 Chromosome 9, 21994262: 21994262
41 CDKN2A NM_000077.4(CDKN2A): c.150+20C> T single nucleotide variant Likely benign rs550846229 GRCh38 Chromosome 9, 21974658: 21974658
42 CDKN2A NM_000077.4(CDKN2A): c.150+20C> T single nucleotide variant Likely benign rs550846229 GRCh37 Chromosome 9, 21974657: 21974657
43 CDKN2A NM_000077.4(CDKN2A): c.273G> A (p.Leu91=) single nucleotide variant Conflicting interpretations of pathogenicity rs4987127 GRCh38 Chromosome 9, 21971086: 21971086
44 CDKN2A NM_000077.4(CDKN2A): c.273G> A (p.Leu91=) single nucleotide variant Conflicting interpretations of pathogenicity rs4987127 GRCh37 Chromosome 9, 21971085: 21971085
45 CDKN2A NM_000077.4(CDKN2A): c.458-492G> C single nucleotide variant Likely benign rs527814073 GRCh38 Chromosome 9, 21968734: 21968734
46 CDKN2A NM_000077.4(CDKN2A): c.458-492G> C single nucleotide variant Likely benign rs527814073 GRCh37 Chromosome 9, 21968733: 21968733
47 CDKN2A NM_000077.4(CDKN2A): c.458-491C> T single nucleotide variant Benign rs181044510 GRCh38 Chromosome 9, 21968733: 21968733
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.174A> C (p.Arg58=) single nucleotide variant Benign/Likely benign rs201208890 GRCh38 Chromosome 9, 21971185: 21971185
50 CDKN2A NM_000077.4(CDKN2A): c.174A> C (p.Arg58=) single nucleotide variant Benign/Likely benign rs201208890 GRCh37 Chromosome 9, 21971184: 21971184

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
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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