MCID: MLN054
MIFTS: 46

Melanocytic Nevus Syndrome, Congenital, Somatic

Categories: Genetic diseases, Skin diseases, Rare diseases

Aliases & Classifications for Melanocytic Nevus Syndrome, Congenital, Somatic

MalaCards integrated aliases for Melanocytic Nevus Syndrome, Congenital, Somatic:

Name: Melanocytic Nevus Syndrome, Congenital, Somatic 54
Giant Pigmented Hairy Nevus 56 71 29 69
Nevus Spilus 71 69
Lentigo 42 69
Melanocytic Nevus Syndrome, Congenital 71
Spitz Nevus or Nevus Spilus, Somatic 54
Nevus, Spindle Cell and Epithelioid 71
Nevus, Epithelioid and Spindle Cell 42
Giant Congenital Melanocytic Nevus 56
Large Congenital Melanocytic Nevus 56
Spindle Cell and Epithelioid Nevus 71
Epithelioid and Spindle Cell Nevus 69
Giant Congenital Pigmented Nevus 71
Congenital Melanocytic Nevus 69
Congenital Pigmented Nevus 56
Speckled Lentiginous Nevus 71
Melanocytic Nevus of Skin 69
Melanocytic Nevus 69
Nevus, Pigmented 42
Pigmented Moles 71
Nevoid Lentigo 71
Nevus, Spitz 71
Spitz Nevus 71
Nevuspi 71
Spitzn 71
Gphn 71
Lcmn 56
Cmns 71
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;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
onset at birth
relatives with multiple small congenital pigmented nevi


HPO:

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


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 have 1 or more large or giant lesions greater than 20 cm and up to over 60 cm in diameter, which may cover up to 80% of total body area. These lesions may or may not be hairy. Smaller 'satellite' pigmented lesions numbering in the hundreds may also be present all over the body. Congenital melanocytic nevi (CMN) can be associated with malignant melanoma (see CMM1, 155600), but the risk appears to be low, ranging from 1 to 2% for all individuals, but rising to 10 to 15% in those with very large nevi (greater than 40 cm). A small subset of patients with CMNS have abnormalities of the central nervous system, known as 'neurocutaneous melanosis' or 'neuromelanosis' (249400), which may be symptomatic. Patients with CMNS 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 (summary by Kinsler et al., 2008; Kinsler et al., 2012). Spitz nevi are benign melanocytic melanomas composed of epithelioid or spindle cell melanocytes. They usually present as solitary skin tumors but can occur in multiple patterns, having agminated, dermatomal, and disseminated forms (summary by Sarin et al., 2013). Nevus spilus, also known as speckled lentiginous nevus, is a congenital hyperpigmented patch that progressively evolves, with affected individuals developing dark macules and papules during childhood and adolescence. Over time, nevus spilus may give rise to common lentigines, melanocytic nevi, Spitz nevi, and melanomas (summary by Sarin et al., 2014). (137550)

MalaCards based summary : Melanocytic Nevus Syndrome, Congenital, Somatic, also known as giant pigmented hairy nevus, is related to epidermal nevus, somatic and lentigo maligna melanoma, and has symptoms including cutaneous melanoma, congenital giant melanocytic nevus and seizures. 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. Affiliated tissues include skin and brain, and related phenotypes are cellular and craniofacial

UniProtKB/Swiss-Prot : 71 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 77)
id Related Disease Score Top Affiliating Genes
1 epidermal nevus, somatic 32.5 HRAS NRAS
2 lentigo maligna melanoma 12.3
3 gphn-related hyperekplexia 12.0
4 phacomatosis pigmentokeratotica 11.5
5 molybdenum cofactor deficiency 11.4
6 hyperekplexia 11.4
7 phakomatosis pigmentokeratotica 11.2
8 giant congenital nevus 11.2
9 molybdenum cofactor deficiency c 11.1
10 phacomatosis pigmentovascularis 11.0
11 stiff-person syndrome 11.0
12 neurocutaneous melanosis, somatic 11.0
13 mosaic trisomy 22 10.8
14 chronic polyneuropathy 10.7 HRAS NRAS
15 schimmelpenning-feuerstein-mims syndrome, somatic mosaic 10.7 HRAS NRAS
16 fibrous meningioma 10.6 HRAS NRAS
17 sublingual gland adenoid cystic carcinoma 10.6 HRAS NRAS
18 coloboma of macula and skeletal anomalies 10.6 HRAS NRAS
19 demyelinating polyneuropathy 10.6 HRAS NRAS
20 olfactory neural tumor 10.6 HRAS NRAS
21 nephrolithiasis 10.6 HRAS NRAS
22 occupational dermatitis 10.5 HRAS NRAS
23 fallopian tube serous papilloma 10.5 NRAS TYR
24 dyserythropoietic anemia and thrombocytopenia 10.5 HRAS NRAS
25 facial hemiatrophy 10.4 MC1R NRAS
26 ossifying fibromyxoid tumor 10.4 HRAS NRAS
27 oral mucosa leukoplakia 10.4 MC1R TYR
28 vulval paget's disease 10.3 HRAS NRAS TYR
29 vaginal yolk sac tumor 10.3 HRAS NRAS TYR
30 hydrarthrosis 10.3 HRAS NRAS TYR
31 bone marrow cancer 10.3 HRAS NRAS TYR
32 small intestine diverticulitis 10.2 MC1R TYR
33 childhood brainstem astrocytoma 10.2 EDN1 TYR
34 peroxisome biogenesis disorder 7a 10.2 HRAS KITLG NRAS
35 telangiectatic glomangioma 10.2 MC1R NRAS TYR
36 autosomal dominant non-syndromic intellectual disability 10.1 KITLG MC1R
37 dubin-johnson syndrome 10.0 HRAS MC1R NRAS STK11
38 congenital mesoblastic nephroma 10.0
39 heavy chain disease 10.0 HRAS MC1R NRAS TYR
40 brown-vialetto-van laere syndrome 10.0 HRAS MC1R NRAS TYR
41 melanoma 10.0
42 scoliosis 9.9
43 spitz nevus 9.9
44 large intestine adenocarcinoma 9.9 MLH1 MSH2
45 optic nerve sheath meningioma 9.9 MLH1 MSH2
46 benign fibrous mesothelioma 9.9 MLH1 MSH2
47 psoriasis 9.9 MLH1 MSH2
48 cataract 27, nuclear progressive 9.9 MLH1 MSH2
49 angioimmunoblastic lymphadenopathy with dysproteinemia 9.9 MLH1 MSH2
50 dystonia 9.9

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 via clinical synopsis from OMIM:

54

Head And Neck- Face:
prominent forehead
round face
long philtrum
wide forehead
full cheeks
more
Head And Neck- Nose:
short nose
anteverted nares
broad nasal tip
small nose
narrow nasal ridge
more
Skin Nails & Hair- Skin:
large nevus (greater than 10 cm)
multiple nevi (up to hundreds)
giant pigmented hairy nevus, often in lumbosacral distribution
hair may not be present on the nevus
nevus spilus
more
Head And Neck- Mouth:
everted lower lip
open mouth

Head And Neck- Eyes:
periorbital fullness
apparent hypertelorism
eyebrow abnormalities

Neoplasia:
susceptibility to malignant melanoma


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 cutaneous melanoma 56 32 Occasional (29-5%) HP:0012056
2 congenital giant melanocytic nevus 56 32 Very frequent (99-80%) HP:0005600
3 seizures 56 Occasional (29-5%)
4 hydrocephalus 56 Occasional (29-5%)
5 prominent forehead 32 HP:0011220
6 round face 32 HP:0000311
7 short nose 32 HP:0003196
8 broad nasal tip 32 HP:0000455
9 periorbital fullness 32 HP:0000629
10 broad forehead 32 HP:0000337
11 long philtrum 32 HP:0000343
12 full cheeks 32 HP:0000293
13 deep philtrum 32 HP:0002002
14 narrow nasal ridge 32 HP:0000418
15 open mouth 32 HP:0000194
16 rhabdomyosarcoma 56 Occasional (29-5%)
17 pruritus 56 Occasional (29-5%)
18 hypopigmented skin patches 56 Occasional (29-5%)
19 sarcoma 56 Occasional (29-5%)
20 generalized hirsutism 56 Frequent (79-30%)
21 everted lower lip vermilion 32 HP:0000232
22 subcutaneous nodule 56 Occasional (29-5%)
23 neoplasm 56 Frequent (79-30%)
24 nevus 56 Very frequent (99-80%)
25 neoplasm of the skin 56 Occasional (29-5%)
26 abnormality of skin pigmentation 56 Very frequent (99-80%)
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 MLH1 MSH2 NRAS PRKAR1A STK11 TYR
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 MSH2 NRAS PRKAR1A STK11 TYR EDN1
6 digestive/alimentary MP:0005381 10.04 EDN1 KITLG MLH1 MSH2 NRAS PRKAR1A
7 growth/size/body region MP:0005378 10.03 TYR EDN1 HRAS KITLG MC1R NRAS
8 integument MP:0010771 9.97 MSH2 NRAS STK11 TYR HRAS KITLG
9 mortality/aging MP:0010768 9.97 STK11 TYR EDN1 HRAS KITLG MLH1
10 embryo MP:0005380 9.95 EDN1 KITLG NRAS PRKAR1A STK11 TYR
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

Search Clinical Trials , 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:

71
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 25)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.68 HRAS KITLG NRAS PRKAR1A STK11
2
Show member pathways
12.66 EDN1 HRAS NRAS PRKAR1A
3
Show member pathways
12.64 EDN1 HRAS KITLG NRAS
4 12.15 HRAS KITLG MLH1 MSH2 NRAS
5 11.96 MLH1 MSH2 PRKAR1A
6
Show member pathways
11.89 HRAS NRAS PRKAR1A
7
Show member pathways
11.88 HRAS NRAS STK11
8
Show member pathways
11.81 HRAS NRAS STK11
9 11.78 MLH1 MSH2 STK11
10 11.74 HRAS NRAS STK11
11 11.54 EDN1 HRAS NRAS
12
Show member pathways
11.45 EDN1 HRAS KITLG MC1R NRAS TYR
13 11.31 HRAS KITLG NRAS PRKAR1A
14 11.15 HRAS NRAS
15
Show member pathways
11.09 EDN1 HRAS
16 11.08 HRAS NRAS
17 11.08 HRAS NRAS
18
Show member pathways
11.05 HRAS NRAS
19 11.05 MLH1 MSH2
20 11.05 KITLG MC1R PRKAR1A
21 10.92 HRAS NRAS
22 10.89 HRAS NRAS
23 10.81 HRAS NRAS
24 10.55 HRAS NRAS
25
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:

id Name GO ID Score Top Affiliating Genes
1 cell cycle arrest GO:0007050 9.63 HRAS MSH2 STK11
2 mismatch repair GO:0006298 9.48 MLH1 MSH2
3 positive regulation of Ras protein signal transduction GO:0046579 9.43 HRAS KITLG
4 positive regulation of MAP kinase activity GO:0043406 9.43 EDN1 HRAS KITLG
5 somatic hypermutation of immunoglobulin genes GO:0016446 9.4 MLH1 MSH2
6 isotype switching GO:0045190 9.37 MLH1 MSH2
7 positive regulation of isotype switching to IgG isotypes GO:0048304 9.32 MLH1 MSH2
8 somatic recombination of immunoglobulin gene segments GO:0016447 9.16 MLH1 MSH2
9 positive regulation of isotype switching to IgA isotypes GO:0048298 8.96 MLH1 MSH2
10 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
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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