CMNS
MCID: MLN054
MIFTS: 56

Melanocytic Nevus Syndrome, Congenital, Somatic (CMNS) malady

Categories: Genetic diseases, Skin diseases, Rare diseases

Aliases & Classifications for Melanocytic Nevus Syndrome, Congenital, Somatic

Aliases & Descriptions for Melanocytic Nevus Syndrome, Congenital, Somatic:

Name: Melanocytic Nevus Syndrome, Congenital, Somatic 54
Giant Pigmented Hairy Nevus 56 66 29 69
Melanocytic Nevus Syndrome, Congenital 54 66
Nevus Spilus 66 69
Lentigo 42 69
Spitz Nevus or Nevus Spilus, Somatic 54
Nevus, Spindle Cell and Epithelioid 66
Nevus, Epithelioid and Spindle Cell 42
Giant Congenital Melanocytic Nevus 56
Large Congenital Melanocytic Nevus 56
Spindle Cell and Epithelioid Nevus 66
Epithelioid and Spindle Cell Nevus 69
Giant Congenital Pigmented Nevus 66
Congenital Melanocytic Nevus 69
Congenital Pigmented Nevus 56
Speckled Lentiginous Nevus 66
Melanocytic Nevus of Skin 69
Melanocytic Nevus 69
Nevus, Pigmented 42
Pigmented Moles 66
Nevoid Lentigo 66
Nevus, Spitz 66
Spitz Nevus 66
Nevuspi 66
Spitzn 66
Gphn 66
Lcmn 56
Cmns 66
Gmn 56

Characteristics:

Orphanet epidemiological data:

56
large congenital melanocytic nevus
Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

HPO:

32
melanocytic nevus syndrome, congenital, somatic:
Inheritance autosomal dominant inheritance
Onset and clinical course congenital onset


Classifications:

Orphanet: 56  
Rare skin diseases


External Ids:

OMIM 54 137550
Orphanet 56 ORPHA626
UMLS via Orphanet 70 C1318558 C1842036
ICD10 via Orphanet 34 Q82.5

Summaries for Melanocytic Nevus Syndrome, Congenital, Somatic

OMIM : 54 Congenital melanocytic nevus syndrome is characterized by pigmentary skin defects apparent at birth. Most individuals... (137550) more...

MalaCards based summary : Melanocytic Nevus Syndrome, Congenital, Somatic, also known as giant pigmented hairy nevus, is related to neurocutaneous melanosis, somatic and spitz nevus, and has symptoms including congenital giant melanocytic nevus, cutaneous melanoma and pruritus. An important gene associated with Melanocytic Nevus Syndrome, Congenital, Somatic is NRAS (NRAS Proto-Oncogene, GTPase), and among its related pathways/superpathways are p70S6K Signaling and NFAT and Cardiac Hypertrophy. The drugs Cisplatin and Dasatinib have been mentioned in the context of this disorder. Affiliated tissues include skin and brain, and related phenotypes are cellular and craniofacial

UniProtKB/Swiss-Prot : 66 Melanocytic nevus syndrome, congenital: A syndrome characterized by congenital pigmentary skin lesions which can occur at any site and can cover most of the body surface. These lesions may or may not be hairy. Congenital melanocytic nevi are associated with neuromelanosis (the presence of melanin-producing cells within the brain parenchyma or leptomeninges). Less commonly they are associated with malignant melanoma in childhood, both in the skin and the central nervous system. CMNS patients also tend to have a characteristic facial appearance, including wide or prominent forehead, periorbital fullness, small short nose with narrow nasal bridge, round face, full cheeks, prominent premaxilla, and everted lower lip. Nevus spilus: A congenital hyperpigmented patch, which progressively evolves, developing dark macules and papules during childhood and adolescence. Over time, nevus spilus may give rise to common lentigines, melanocytic nevi, Spitz nevi, and melanoma. Spitz nevus: A benign melanocytic neoplasm composed of epithelioid or spindle cell melanocytes. Spitz nevi usually present as solitary skin tumors but can occur in multiple patterns, having agminated, dermatomal, and disseminated forms.

Related Diseases for Melanocytic Nevus Syndrome, Congenital, Somatic

Diseases related to Melanocytic Nevus Syndrome, Congenital, Somatic via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 76)
id Related Disease Score Top Affiliating Genes
1 neurocutaneous melanosis, somatic 29.3 CNC2 EDN1 HRAS KITLG MC1R MLH1
2 spitz nevus 12.5
3 lentigo maligna melanoma 12.3
4 gphn-related hyperekplexia 12.1
5 giant congenital nevus 11.9
6 phacomatosis pigmentokeratotica 11.5
7 molybdenum cofactor deficiency 11.4
8 hyperekplexia 11.4
9 phakomatosis pigmentokeratotica 11.2
10 molybdenum cofactor deficiency c 11.1
11 stiff-person syndrome 11.1
12 phacomatosis pigmentovascularis 11.0
13 epidermal nevus, somatic 11.0
14 mosaic trisomy 22 10.8
15 acute hemorrhagic encephalitis 10.3 HRAS NRAS
16 erythrocyte lactate transporter defect 10.3 HRAS NRAS
17 parotid gland adenoid cystic carcinoma 10.2 HRAS NRAS
18 tubulointerstitial nephritis with uveitis 10.2 HRAS NRAS
19 infertility 10.2 HRAS NRAS
20 nephrolithiasis 10.2 HRAS NRAS
21 verrucous papilloma 10.2 NRAS TYR
22 gallbladder pleomorphic giant cell adenocarcinoma 10.2 HRAS NRAS
23 vulval paget's disease 10.1 HRAS NRAS TYR
24 vaginal yolk sac tumor 10.1 HRAS NRAS TYR
25 retroperitoneal leiomyosarcoma 10.1 HRAS NRAS TYR
26 nelson syndrome 10.1 HRAS NRAS TYR
27 adult epithelioid sarcoma 10.1 HRAS NRAS
28 malignant pleural solitary fibrous tumor 10.1 HRAS NRAS TYR
29 melanoma 10.1
30 neurofibroma 10.1
31 ovarian surface papilloma 10.1 EDN1 TYR
32 pediatric germ cell cancer 10.1 MC1R NRAS TYR
33 peroxisome biogenesis disorder 7a 10.0 HRAS KITLG NRAS
34 alpha chain disease 10.0 HRAS MC1R NRAS TYR
35 congenital mesoblastic nephroma 10.0
36 rhabdomyosarcoma 10.0
37 lipoma 10.0
38 prostate cancer, hereditary, x-linked 1 10.0 KITLG MSH2 STK11
39 large intestine adenoma 10.0 MLH1 MSH2
40 benign fibrous mesothelioma 10.0 MLH1 MSH2
41 skin melanoma 10.0 MLH1 MSH2
42 aorta atresia 10.0 MLH1 MSH2
43 fibrolamellar carcinoma 10.0 MLH1 MSH2
44 familial hypopituitarism 9.9 MLH1 MSH2
45 neuropathy, distal hereditary motor, type viib 9.9 MLH1 MSH2
46 lung mucoepidermoid carcinoma 9.9 MSH2 NRAS
47 scoliosis 9.9
48 lattice corneal dystrophy 9.9 MLH1 NRAS TYR
49 uterine corpus endometrial stromal sarcoma 9.9 HRAS MLH1
50 wolffian duct adenoma 9.9 HRAS MLH1 MSH2

Graphical network of the top 20 diseases related to Melanocytic Nevus Syndrome, Congenital, Somatic:



Diseases related to Melanocytic Nevus Syndrome, Congenital, Somatic

Symptoms & Phenotypes for Melanocytic Nevus Syndrome, Congenital, Somatic

Symptoms by clinical synopsis from OMIM:

137550

Clinical features from OMIM:

137550

Human phenotypes related to Melanocytic Nevus Syndrome, Congenital, Somatic:

56 32 (show all 27)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 congenital giant melanocytic nevus 56 32 Very frequent (99-80%) HP:0005600
2 cutaneous melanoma 56 32 Occasional (29-5%) HP:0012056
3 pruritus 56 Occasional (29-5%)
4 seizures 56 Occasional (29-5%)
5 hydrocephalus 56 Occasional (29-5%)
6 short nose 32 HP:0003196
7 subcutaneous nodule 56 Occasional (29-5%)
8 prominent forehead 32 HP:0011220
9 full cheeks 32 HP:0000293
10 long philtrum 32 HP:0000343
11 neoplasm 56 Frequent (79-30%)
12 generalized hirsutism 56 Frequent (79-30%)
13 periorbital fullness 32 HP:0000629
14 everted lower lip vermilion 32 HP:0000232
15 nevus 56 Very frequent (99-80%)
16 hypopigmented skin patches 56 Occasional (29-5%)
17 broad forehead 32 HP:0000337
18 sarcoma 56 Occasional (29-5%)
19 open mouth 32 HP:0000194
20 round face 32 HP:0000311
21 broad nasal tip 32 HP:0000455
22 deep philtrum 32 HP:0002002
23 neoplasm of the skin 56 Occasional (29-5%)
24 abnormality of skin pigmentation 56 Very frequent (99-80%)
25 rhabdomyosarcoma 56 Occasional (29-5%)
26 narrow nasal ridge 32 HP:0000418
27 prominence of the premaxilla 32 HP:0010759

MGI Mouse Phenotypes related to Melanocytic Nevus Syndrome, Congenital, Somatic:

44 (show all 14)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.13 PRKAR1A KITLG STK11 MC1R TYR MLH1
2 craniofacial MP:0005382 10.11 EDN1 HRAS KITLG MC1R NRAS PRKAR1A
3 cardiovascular system MP:0005385 10.08 EDN1 HRAS KITLG NRAS PRKAR1A STK11
4 endocrine/exocrine gland MP:0005379 10.06 EDN1 HRAS KITLG MLH1 NRAS PRKAR1A
5 homeostasis/metabolism MP:0005376 10.06 TYR EDN1 HRAS KITLG MLH1 MSH2
6 digestive/alimentary MP:0005381 10.04 EDN1 KITLG MLH1 MSH2 NRAS PRKAR1A
7 growth/size/body region MP:0005378 10.03 EDN1 HRAS KITLG MC1R NRAS PRKAR1A
8 integument MP:0010771 9.97 HRAS KITLG MC1R MLH1 MSH2 NRAS
9 mortality/aging MP:0010768 9.97 EDN1 HRAS KITLG MLH1 MSH2 NRAS
10 embryo MP:0005380 9.95 STK11 TYR EDN1 KITLG NRAS PRKAR1A
11 neoplasm MP:0002006 9.91 HRAS KITLG MC1R MLH1 MSH2 NRAS
12 normal MP:0002873 9.63 EDN1 HRAS NRAS PRKAR1A STK11 TYR
13 pigmentation MP:0001186 9.35 KITLG MC1R NRAS PRKAR1A TYR
14 vision/eye MP:0005391 9.1 KITLG MLH1 NRAS PRKAR1A STK11 TYR

Drugs & Therapeutics for Melanocytic Nevus Syndrome, Congenital, Somatic

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

(show top 50) (show all 557)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cisplatin Approved Phase 4,Phase 3,Phase 2,Phase 1 15663-27-1 84093 441203 2767
2
Dasatinib Approved, Investigational Phase 4,Phase 2,Phase 1 302962-49-8 3062316
3
Sorafenib Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 284461-73-0 216239 406563
4
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 1 22916-47-8 4189
5
Dacarbazine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 4342-03-4 5351166
6
Imiquimod Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 99011-02-6 57469
7
Everolimus Approved Phase 4,Phase 2,Phase 1 159351-69-6 6442177
8
Triamcinolone Approved, Vet_approved Phase 4,Phase 2,Phase 3 124-94-7 31307
9
Sunitinib Approved, Investigational Phase 4,Phase 2,Phase 1 341031-54-7, 557795-19-4 5329102
10
Ranibizumab Approved Phase 4,Phase 2,Phase 3,Phase 1 347396-82-1 459903
11
Trametinib Approved Phase 4,Phase 3,Phase 2,Phase 1 871700-17-3 11707110
12
Sirolimus Approved, Investigational Phase 4,Phase 2,Phase 1 53123-88-9 5284616 6436030 46835353
13
Aldesleukin Approved Phase 4,Phase 3,Phase 1,Phase 2,Early Phase 1 85898-30-2, 110942-02-4
14
Vindesine Approved Phase 4 59917-39-4, 53643-48-4 40839
15
Aminolevulinic acid Approved Phase 4,Phase 2 106-60-5 137
16
Etanercept Approved, Investigational Phase 4 185243-69-0
17
Bortezomib Approved, Investigational Phase 4,Phase 2,Phase 1 179324-69-7 387447 93860
18
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
19
Remifentanil Approved Phase 4 132875-61-7 60815
20
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
21
Vorinostat Approved, Investigational Phase 4,Phase 2,Phase 1,Early Phase 1 149647-78-9 5311
22
nivolumab Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 946414-94-4
23
Ramucirumab Approved, Investigational Phase 4,Phase 2,Phase 1 947687-13-0
24
Somatostatin Approved Phase 4,Phase 2,Phase 1 38916-34-6, 51110-01-1 53481605
25
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
26
Lopinavir Approved Phase 4 192725-17-0 92727
27
Nevirapine Approved Phase 4 129618-40-2 4463
28
Crizotinib Approved Phase 4,Phase 2 877399-52-5 11626560 10366136 10366137 10366138 10366139 10366140 10366141
29
Palbociclib Approved Phase 4,Phase 1,Phase 2 571190-30-2 11431660 5005498 5330286
30
Ceritinib Approved Phase 4,Phase 2 1032900-25-6
31
Gefitinib Approved, Investigational Phase 4 184475-35-2 123631
32
Olaparib Approved Phase 4 763113-22-0 23725625
33
Lapatinib Approved March 2007, Investigational Phase 4,Phase 2 231277-92-2, 388082-78-8 208908 9941095
34 triamcinolone acetonide Phase 4,Phase 2,Phase 3
35
Lactitol Phase 4,Phase 1,Phase 2 585-86-4 3871
36 Imatinib Mesylate Phase 4,Phase 2,Phase 1 123596
37 Interleukin-2 Phase 4,Phase 3,Phase 1,Phase 2,Early Phase 1
38 interferons Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
39 Analgesics Phase 4,Phase 3,Phase 1,Phase 2,Early Phase 1
40 glucocorticoids Phase 4,Phase 2,Phase 3,Phase 1
41 Adjuvants, Immunologic Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
42 Narcotics Phase 4,Phase 1,Phase 2
43 Gastrointestinal Agents Phase 4,Phase 1,Phase 2
44 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 2,Phase 1
45 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 1,Phase 2,Early Phase 1
46 Dermatologic Agents Phase 4,Phase 3,Phase 2,Phase 1
47 Analgesics, Opioid Phase 4,Phase 1,Phase 2
48 Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
49 Triamcinolone diacetate Phase 4,Phase 2,Phase 3
50 Triamcinolone hexacetonide Phase 4,Phase 2,Phase 3

Interventional clinical trials:

(show top 50) (show all 1785)
id Name Status NCT ID Phase
1 Intravitreal Ranibizumab for the Prevention of Radiation Maculopathy Following Plaque Radiotherapy Unknown status NCT00540930 Phase 4
2 Standard Palliative Care Versus Standard Palliative Care Plus Polychemotherapy in Metastasized Malignant Melanoma Unknown status NCT00226473 Phase 4
3 Effect of Topical Imiquimod on Lentigo Maligna Completed NCT01161888 Phase 4
4 Scalp Nerve Block on Emergence Agitation Completed NCT02428283 Phase 4
5 Can We Miss Pigmented Lesions in Psoriasis Patients? Completed NCT01053819 Phase 4
6 Long Term Results of Combined Transpupillary Thermotherapy (TTT) Indocyanine Green (ICG) Based Photodynamic Therapy (PDT) in Choroidal Melanoma Completed NCT01253759 Phase 4
7 Post-Operative Drainage Following Lymph Node Dissection Completed NCT00324272 Phase 4
8 Photodynamic Therapy for Lentigo Maligna Using 5-aminolevulinic Acid Nanoemulsion as a Light Sensitizing Cream Recruiting NCT02685592 Phase 4
9 Optimal Dosing of 1st Line Antituberculosis and Antiretroviral Drugs in Children (a Pharmacokinetic Study) Recruiting NCT01637558 Phase 4
10 Immune Modulation Study in Patients With Metastatic Melanoma Treated With Anti-PD1 Monoclonal Antibodies Recruiting NCT02626065 Phase 4
11 Neoadjuvant Granulocyte-Macrophage Colony-Stimulating Factor (GM-CSF) in Cutaneous Stage L-lll Melanoma Recruiting NCT02451488 Phase 4
12 Study to Allow Access to Pasireotide for Patients Benefiting From Pasireotide Treatment in a Novartis-sponsored Study. Recruiting NCT01794793 Phase 4
13 TTT Versus TTT and Triamcinolone to Decrease Exudation in Choroidal Melanoma After Proton Beam Therapy Active, not recruiting NCT02379000 Phase 4
14 A National Phase IV Study With Ipilimumab for Patients With Advanced Malignant Melanoma. Active, not recruiting NCT02068196 Phase 4
15 An Open-Label Study of Zelboraf (Vemurafenib) in Patients With Braf V600 Mutation Positive Metastatic Melanoma Active, not recruiting NCT01898585 Phase 4
16 Phase 3 Trial in Subjects With Metastatic Melanoma Comparing 3 mg/kg Ipilimumab Versus 10 mg/kg Ipilimumab Active, not recruiting NCT01515189 Phase 4
17 Molecular Profiling and Matched Targeted Therapy for Patients With Metastatic Melanoma Not yet recruiting NCT02645149 Phase 4
18 HD IL-2 + Ipilimumab in Patients With Metastatic Melanoma Terminated NCT01856023 Phase 4
19 HD IL-2 + Vemurafenib in Patients With BRAF Mutation Positive Metastatic Melanoma Terminated NCT01683188 Phase 4
20 Modified Melanoma Vaccine for High Risk or Low Residual Disease Patients Unknown status NCT01861938 Phase 2, Phase 3
21 Treatment Of Radiation Retinopathy Trial Unknown status NCT00811200 Phase 2, Phase 3
22 Comparative Study of Individualized Sensitivity-Directed Chemotherapy Versus DTIC Unknown status NCT00779714 Phase 3
23 Standard High-Dose Alpha Interferon Versus Intermittent High-Dose Alpha Interferon Unknown status NCT00226408 Phase 3
24 Vaccine Therapy for Patients With Stage IV Melanoma Unknown status NCT00052156 Phase 3
25 Vaccine Therapy for Patients With Stage III Melanoma Unknown status NCT00052130 Phase 3
26 Interleukin-2 With or Without Histamine Dihydrochloride in Treating Patients With Stage IV Melanoma Metastatic to the Liver Unknown status NCT00039234 Phase 3
27 Interferon Alfa Following Surgery in Treating Patients With Stage III Melanoma Unknown status NCT00006249 Phase 3
28 Vaccine Therapy in Treating Patients With Primary Stage II Melanoma Unknown status NCT00005052 Phase 3
29 Interferon Alfa With or Without Vaccine Therapy in Treating Patients With Metastatic Melanoma Unknown status NCT00002767 Phase 3
30 High-Dose or Low-Dose Interferon Alfa Compared With No Further Therapy Following Surgery in Treating Patients With Stage III Melanoma Unknown status NCT00002763 Phase 3
31 Immunotherapy After Surgery in Treating Patients With Breast Cancer, Colon Cancer, or Melanoma Unknown status NCT00002455 Phase 3
32 Clinical Study for the Evaluation of the Depigmenting Activity of a Cosmetic Product on Spotted Hand Skin Completed NCT02204436 Phase 3
33 Evaluation of Pigmented Skin Lesions With MelaFind(R) System Completed NCT00434057 Phase 3
34 An Analysis of the Response of Human Tumor Microvascular Endothelium to Ionizing Radiation Completed NCT00132704 Phase 3
35 A Study of Continued Treatment Among Participants Who Have Responded to Peginterferon Alfa-2a (Pegasys®) or Recombinant Interferon Alfa-2a (Roferon-A®) in Prior Clinical Studies Completed NCT02829775 Phase 2, Phase 3
36 Sargramostim and/or Vaccine Therapy in Preventing Disease Recurrence in Patients With Advanced Melanoma Completed NCT01989572 Phase 3
37 Selumetinib (AZD6244: ARRY-142886) (Hyd-Sulfate) in Metastatic Uveal Melanoma (SUMIT) Completed NCT01974752 Phase 3
38 An Extended Use Study of Safety and Efficacy of Talimogene Laherparepvec in Melanoma Completed NCT01368276 Phase 3
39 Fotemustine and Dacarbazine Versus Dacarbazine +/- Alpha Interferon in Advanced Malignant Melanoma Completed NCT01359956 Phase 3
40 A Study of RO5185426 in Patients With Metastatic Melanoma Completed NCT01307397 Phase 3
41 Nordic Adjuvant IFN Melanoma Trial Completed NCT01259934 Phase 3
42 Breast and Melanoma Trial With Lymphoseek to Identify Lymph Nodes Completed NCT01106040 Phase 3
43 A Study of Vemurafenib (RO5185426) in Comparison With Dacarbazine in Previously Untreated Patients With Metastatic Melanoma (BRIM 3) Completed NCT01006980 Phase 3
44 A Trial of ABI-007 Versus Dacarbazine in Previously Untreated Patients With Metastatic Malignant Melanoma Completed NCT00864253 Phase 3
45 Efficacy and Safety Study of Talimogene Laherparepvec Compared to Granulocyte Macrophage Colony Stimulating Factor (GM-CSF) in Melanoma Completed NCT00769704 Phase 3
46 Lucentis as an Adjuvant Therapy With TTT-ICG Based in Choroidal Melanoma Completed NCT00680225 Phase 3
47 Trial of Lymphoseek in Intraoperative Localization of Lymph Nodes in Breast Cancer and Melanoma Completed NCT00671918 Phase 3
48 Cryoablation or External-Beam Radiation Therapy in Treating Patients With Painful Bone Metastases Completed NCT00540969 Phase 3
49 Trial of Dacarbazine With or Without Genasense in Advanced Melanoma Completed NCT00518895 Phase 3
50 A Phase 3 Pivotal Trial Comparing Allovectin-7® Alone vs Chemotherapy Alone in Patients With Stage 3 or Stage 4 Melanoma Completed NCT00395070 Phase 3

Search NIH Clinical Center for Melanocytic Nevus Syndrome, Congenital, Somatic

Cochrane evidence based reviews: lentigo

Genetic Tests for Melanocytic Nevus Syndrome, Congenital, Somatic

Genetic tests related to Melanocytic Nevus Syndrome, Congenital, Somatic:

id Genetic test Affiliating Genes
1 Giant Pigmented Hairy Nevus 29

Anatomical Context for Melanocytic Nevus Syndrome, Congenital, Somatic

MalaCards organs/tissues related to Melanocytic Nevus Syndrome, Congenital, Somatic:

39
Skin, Brain

Publications for Melanocytic Nevus Syndrome, Congenital, Somatic

Variations for Melanocytic Nevus Syndrome, Congenital, Somatic

UniProtKB/Swiss-Prot genetic disease variations for Melanocytic Nevus Syndrome, Congenital, Somatic:

66
id Symbol AA change Variation ID SNP ID
1 NRAS p.Gly13Arg VAR_006845 rs121434595
2 NRAS p.Gln61Lys VAR_006846 rs121913254
3 NRAS p.Gln61Arg VAR_006847 rs11554290

ClinVar genetic disease variations for Melanocytic Nevus Syndrome, Congenital, Somatic:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 NRAS NM_002524.4(NRAS): c.37G> C (p.Gly13Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121434595 GRCh37 Chromosome 1, 115258745: 115258745
2 NRAS NM_002524.4(NRAS): c.182A> G (p.Gln61Arg) single nucleotide variant Pathogenic/Likely pathogenic rs11554290 GRCh37 Chromosome 1, 115256529: 115256529
3 NRAS NM_002524.4(NRAS): c.181C> A (p.Gln61Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121913254 GRCh37 Chromosome 1, 115256530: 115256530

Expression for Melanocytic Nevus Syndrome, Congenital, Somatic

Search GEO for disease gene expression data for Melanocytic Nevus Syndrome, Congenital, Somatic.

Pathways for Melanocytic Nevus Syndrome, Congenital, Somatic

Pathways related to Melanocytic Nevus Syndrome, Congenital, Somatic according to GeneCards Suite gene sharing:

(show all 28)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.76 HRAS KITLG NRAS PRKAR1A STK11
2
Show member pathways
12.67 EDN1 HRAS NRAS PRKAR1A
3
Show member pathways
12.53 EDN1 HRAS KITLG NRAS PRKAR1A
4 12.29 HRAS KITLG NRAS STK11
5 12.15 HRAS KITLG MLH1 MSH2 NRAS
6 11.98 MLH1 MSH2 PRKAR1A
7
Show member pathways
11.98 HRAS MLH1 MSH2 NRAS
8
Show member pathways
11.92 HRAS NRAS PRKAR1A
9
Show member pathways
11.91 HRAS NRAS STK11
10
Show member pathways
11.85 HRAS NRAS STK11
11 11.83 MLH1 MSH2 STK11
12 11.79 HRAS NRAS STK11
13 11.6 EDN1 HRAS NRAS
14
Show member pathways
11.45 EDN1 HRAS KITLG MC1R NRAS TYR
15 11.4 HRAS KITLG NRAS PRKAR1A
16 11.17 HRAS NRAS
17
Show member pathways
11.1 EDN1 HRAS
18 11.1 HRAS NRAS
19 11.09 HRAS NRAS
20
Show member pathways
11.07 HRAS NRAS
21 11.07 MLH1 MSH2
22 11.06 HRAS NRAS
23 11.05 KITLG MC1R PRKAR1A
24 10.95 HRAS NRAS
25 10.92 HRAS NRAS
26 10.85 HRAS NRAS
27 10.61 HRAS NRAS
28
Show member pathways
10.55 EDN1 HRAS NRAS

GO Terms for Melanocytic Nevus Syndrome, Congenital, Somatic

Biological processes related to Melanocytic Nevus Syndrome, Congenital, Somatic according to GeneCards Suite gene sharing:

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 cell cycle arrest GO:0007050 9.65 HRAS MSH2 STK11
2 mismatch repair GO:0006298 9.49 MLH1 MSH2
3 positive regulation of Ras protein signal transduction GO:0046579 9.46 HRAS KITLG
4 isotype switching GO:0045190 9.43 MLH1 MSH2
5 positive regulation of MAP kinase activity GO:0043406 9.43 EDN1 HRAS KITLG
6 somatic hypermutation of immunoglobulin genes GO:0016446 9.4 MLH1 MSH2
7 melanin biosynthetic process GO:0042438 9.37 MC1R TYR
8 positive regulation of isotype switching to IgG isotypes GO:0048304 9.32 MLH1 MSH2
9 positive regulation of isotype switching to IgA isotypes GO:0048298 9.16 MLH1 MSH2
10 somatic recombination of immunoglobulin gene segments GO:0016447 8.96 MLH1 MSH2
11 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 8.62 MLH1 MSH2

Molecular functions related to Melanocytic Nevus Syndrome, Congenital, Somatic according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 mismatched DNA binding GO:0030983 8.96 MLH1 MSH2
2 guanine/thymine mispair binding GO:0032137 8.62 MLH1 MSH2

Sources for Melanocytic Nevus Syndrome, Congenital, Somatic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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43 MESH via Orphanet
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48 NDF-RT
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68 Tocris
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70 UMLS via Orphanet
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