CMNS
MCID: MLN065
MIFTS: 62

Melanocytic Nevus Syndrome, Congenital (CMNS)

Categories: Cancer diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases, Smell/Taste diseases

Aliases & Classifications for Melanocytic Nevus Syndrome, Congenital

MalaCards integrated aliases for Melanocytic Nevus Syndrome, Congenital:

Name: Melanocytic Nevus Syndrome, Congenital 56 73
Giant Pigmented Hairy Nevus 56 74 58 73 39 71
Epithelioid and Spindle Cell Nevus 17 71
Giant Congenital Pigmented Nevus 56 73
Pigmented Moles 56 73
Nevus Spilus 73 71
Lentigo 43 71
Cmns 56 73
Gphn 56 73
Melanocytic Nevus Syndrome, Congenital, Somatic 56
Spitz Nevus or Nevus Spilus, Somatic 56
Nevus, Spindle Cell and Epithelioid 73
Nevus, Epithelioid and Spindle Cell 43
Large Congenital Melanocytic Nevus 58
Giant Congenital Melanocytic Nevus 58
Spindle Cell and Epithelioid Nevus 73
Giant Pigmented Hairy Nevus; Gphn 56
Congenital Melanocytic Nevus 71
Congenital Pigmented Nevus 58
Speckled Lentiginous Nevus 73
Melanocytic Nevus of Skin 71
Melanocytic Nevus 71
Nevus, Pigmented 43
Nevoid Lentigo 73
Nevus, Spitz 73
Spitz Nevus 73
Nevuspi 73
Spitzn 73
Lcmn 58
Gmn 58

Characteristics:

Orphanet epidemiological data:

58
large congenital melanocytic nevus
Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
somatic mutation

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


HPO:

31
melanocytic nevus syndrome, congenital:
Inheritance autosomal dominant inheritance somatic mutation
Onset and clinical course congenital onset


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

OMIM 56 137550
ICD10 via Orphanet 33 Q82.5
UMLS via Orphanet 72 C1318558 C1842036
Orphanet 58 ORPHA626
UMLS 71 C0023321 C0027962 C0206739 more

Summaries for Melanocytic Nevus Syndrome, Congenital

OMIM : 56 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, also known as giant pigmented hairy nevus, is related to spitzoid melanoma and large congenital melanocytic nevus. An important gene associated with Melanocytic Nevus Syndrome, Congenital is NRAS (NRAS Proto-Oncogene, GTPase), and among its related pathways/superpathways are p70S6K Signaling and NFAT and Cardiac Hypertrophy. The drugs Aminolevulinic acid and Photosensitizing Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and endothelial, and related phenotypes are congenital giant melanocytic nevus and cutaneous melanoma

UniProtKB/Swiss-Prot : 73 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.

Wikipedia : 74 The congenital melanocytic nevus is a type of melanocytic nevus (or mole) found in infants at birth.... more...

Related Diseases for Melanocytic Nevus Syndrome, Congenital

Diseases in the Large Congenital Melanocytic Nevus family:

Melanocytic Nevus Syndrome, Congenital

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

(show top 50) (show all 336)
# Related Disease Score Top Affiliating Genes
1 spitzoid melanoma 33.2 NRAS HRAS
2 large congenital melanocytic nevus 32.5 NRAS MC1R HRAS
3 actinic keratosis 31.0 TYR MC1R HRAS
4 acral lentiginous melanoma 30.4 NRAS HRAS
5 nodular malignant melanoma 30.3 TYR NRAS MC1R HRAS
6 carney complex variant 30.1 STK11 PRKAR1A CNC2
7 neurilemmoma 30.0 TYR PRKAR1A CNC2
8 vitiligo-associated multiple autoimmune disease susceptibility 1 29.9 TYR MC1R KITLG
9 skin carcinoma 29.9 TYR NRAS MSH2 MC1R HRAS
10 melanoma in congenital melanocytic nevus 29.9 TYR NRAS MC1R HRAS
11 neurofibromatosis 29.6 MSH2 MLH1 HRAS
12 melanoma 29.6 TYR STK11 NRAS MC1R HRAS
13 skin melanoma 29.4 TYR NRAS MLH1 MC1R HRAS
14 lentigines 29.3 TYR STK11 PRKAR1A MC1R CNC2
15 lynch syndrome 29.0 STK11 MSH2 MLH1 HRAS
16 dowling-degos disease 1 28.9 TYR STK11 KITLG EDN1
17 lentigo maligna melanoma 12.7
18 molybdenum cofactor deficiency, complementation group c 12.2
19 molybdenum cofactor deficiency 11.8
20 hyperekplexia 11.8
21 nevus, epidermal 11.6
22 x-linked infantile nystagmus 11.6
23 hyperekplexia 1 11.6
24 autism 11.6
25 molybdenum cofactor deficiency, complementation group a 11.6
26 autism spectrum disorder 11.6
27 sulfite oxidase deficiency, isolated 11.5
28 melanosis, neurocutaneous 11.4
29 stiff-person syndrome 11.3
30 spondylocostal dysostosis with anal atresia and urogenital anomalies 11.3
31 mosaic trisomy 22 11.2
32 schizophrenia 11.2
33 kaufman oculocerebrofacial syndrome 11.1
34 epilepsy, myoclonic juvenile 11.1
35 ritscher-schinzel syndrome 2 11.1
36 epilepsy, idiopathic generalized 11.1
37 epileptic encephalopathy, early infantile, 6 11.1
38 kagami-ogata syndrome 11.1
39 early infantile epileptic encephalopathy 11.1
40 pervasive developmental disorder 11.1
41 childhood absence epilepsy 11.1
42 herpes zoster oticus 11.1
43 acute monoblastic leukemia 11.1
44 keratosis, seborrheic 10.6
45 inverted follicular keratosis 10.6
46 hemangioma 10.5
47 lichen planus 10.4
48 cutaneous fibrous histiocytoma 10.4
49 malignant anus melanoma 10.4 NRAS HRAS
50 malignant dermis tumor 10.4 NRAS HRAS

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



Diseases related to Melanocytic Nevus Syndrome, Congenital

Symptoms & Phenotypes for Melanocytic Nevus Syndrome, Congenital

Human phenotypes related to Melanocytic Nevus Syndrome, Congenital:

58 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 congenital giant melanocytic nevus 58 31 Very frequent (99-80%) HP:0005600
2 cutaneous melanoma 58 31 Occasional (29-5%) HP:0012056
3 hypertelorism 31 HP:0000316
4 seizures 58 Occasional (29-5%)
5 short nose 31 HP:0003196
6 hydrocephalus 58 Occasional (29-5%)
7 prominent forehead 31 HP:0011220
8 full cheeks 31 HP:0000293
9 pruritus 58 Occasional (29-5%)
10 subcutaneous nodule 58 Occasional (29-5%)
11 everted lower lip vermilion 31 HP:0000232
12 abnormality of skin pigmentation 58 Very frequent (99-80%)
13 hypopigmented skin patches 58 Occasional (29-5%)
14 nevus 58 Very frequent (99-80%)
15 neoplasm 58 Frequent (79-30%)
16 sarcoma 58 Occasional (29-5%)
17 open mouth 31 HP:0000194
18 long philtrum 31 HP:0000343
19 deep philtrum 31 HP:0002002
20 neoplasm of the skin 58 Occasional (29-5%)
21 rhabdomyosarcoma 58 Occasional (29-5%)
22 generalized hirsutism 58 Frequent (79-30%)
23 broad forehead 31 HP:0000337
24 round face 31 HP:0000311
25 broad nasal tip 31 HP:0000455
26 periorbital fullness 31 HP:0000629
27 narrow nasal ridge 31 HP:0000418
28 prominence of the premaxilla 31 HP:0010759
29 nevus spilus 31 HP:0025510

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Nose:
short nose
anteverted nares
broad nasal tip
narrow nasal ridge
small nose
more
Head And Neck Mouth:
open mouth
everted lower lip

Skin Nails Hair Skin:
nevus spilus
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
more
Head And Neck Face:
prominent forehead
full cheeks
long philtrum
deep philtrum
round face
more
Head And Neck Eyes:
periorbital fullness
apparent hypertelorism
eyebrow abnormalities

Neoplasia:
susceptibility to malignant melanoma

Clinical features from OMIM:

137550

MGI Mouse Phenotypes related to Melanocytic Nevus Syndrome, Congenital:

45 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.11 EDN1 HRAS KITLG MC1R NRAS PRKAR1A
2 cellular MP:0005384 10.1 KITLG MC1R MLH1 MSH2 NRAS PRKAR1A
3 craniofacial MP:0005382 10.08 EDN1 HRAS KITLG MC1R NRAS PRKAR1A
4 digestive/alimentary MP:0005381 10.06 EDN1 HRAS KITLG MLH1 MSH2 NRAS
5 homeostasis/metabolism MP:0005376 10.06 EDN1 HRAS KITLG MLH1 MSH2 NRAS
6 endocrine/exocrine gland MP:0005379 10.03 EDN1 HRAS KITLG MLH1 NRAS PRKAR1A
7 immune system MP:0005387 9.97 KITLG MC1R MLH1 MSH2 NRAS PRKAR1A
8 integument MP:0010771 9.97 HRAS KITLG MC1R MLH1 MSH2 NRAS
9 mortality/aging MP:0010768 9.91 EDN1 HRAS KITLG MLH1 MSH2 NRAS
10 neoplasm MP:0002006 9.81 HRAS KITLG MC1R MLH1 MSH2 NRAS
11 normal MP:0002873 9.43 EDN1 HRAS NRAS PRKAR1A STK11 TYR
12 pigmentation MP:0001186 9.02 KITLG MC1R NRAS PRKAR1A TYR

Drugs & Therapeutics for Melanocytic Nevus Syndrome, Congenital

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

(show top 50) (show all 56)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aminolevulinic acid Approved Phase 4 106-60-5 137
2 Photosensitizing Agents Phase 4
3 Dermatologic Agents Phase 4
4
Imiquimod Approved, Investigational Phase 2, Phase 3 99011-02-6 57469
5 Adjuvants, Immunologic Phase 2, Phase 3
6 interferons Phase 2, Phase 3
7 Immunologic Factors Phase 2, Phase 3
8 Antihypertensive Agents Phase 3
9 Veratrum Alkaloids Phase 3
10
Fluocinolone Acetonide Approved, Investigational, Vet_approved Phase 2 67-73-2 6215
11
Hydroquinone Approved, Investigational Phase 2 123-31-9 785
12
Tretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4 444795 5538
13
Asparagine Approved, Investigational, Nutraceutical Phase 1, Phase 2 70-47-3 6267
14
Cediranib Investigational Phase 2 288383-20-0 9933475
15
Maleic acid Experimental, Investigational Phase 2 110-17-8, 110-16-7 444972
16
Betulinic acid Investigational Phase 1, Phase 2 472-15-1 64971
17 Keratolytic Agents Phase 2
18 Protein Kinase Inhibitors Phase 2
19 Hormones Phase 1, Phase 2
20 Hormone Antagonists Phase 1, Phase 2
21 Anti-HIV Agents Phase 1, Phase 2
22 Analgesics, Non-Narcotic Phase 1, Phase 2
23 Prostaglandin Antagonists Phase 1, Phase 2
24 Anti-Infective Agents Phase 1, Phase 2
25 Analgesics Phase 1, Phase 2
26 Anti-Inflammatory Agents Phase 1, Phase 2
27 Antiparasitic Agents Phase 1, Phase 2
28 Antiviral Agents Phase 1, Phase 2
29 Antirheumatic Agents Phase 1, Phase 2
30 Antiprotozoal Agents Phase 1, Phase 2
31 Antimalarials Phase 1, Phase 2
32 Anti-Retroviral Agents Phase 1, Phase 2
33 Anti-Inflammatory Agents, Non-Steroidal Phase 1, Phase 2
34 Interferon-gamma Phase 1, Phase 2
35
Ganciclovir Approved, Investigational Phase 1 82410-32-0 3454
36 Ganciclovir triphosphate Phase 1
37
Chlorhexidine Approved, Vet_approved 55-56-1 9552079 2713
38
Tazarotene Approved, Investigational 118292-40-3 5381
39
Clobetasol Approved, Experimental, Investigational 25122-41-2, 25122-46-7 32798 5311051
40
Neomycin Approved, Vet_approved 1404-04-2 8378
41
Glycolic acid Approved, Investigational 79-14-1 757
42
Formaldehyde Approved, Vet_approved 50-00-0 712
43
Lidocaine Approved, Vet_approved 137-58-6 3676
44
Prilocaine Approved 721-50-6 4906
45
Tetracaine Approved, Vet_approved 94-24-6 5411
46
Glycine Approved, Nutraceutical, Vet_approved 56-40-6 750
47 Pharmaceutical Solutions
48 Chlorhexidine gluconate
49 glucocorticoids
50 Anti-Bacterial Agents

Interventional clinical trials:

(show top 50) (show all 57)
# Name Status NCT ID Phase Drugs
1 Effect of Topical Imiquimod on Lentigo Maligna Completed NCT01161888 Phase 4 Imiquimod
2 Photodynamic Therapy for Melanoma Precursor Lesion Lentigo Maligna Using 5-aminolevulinic Acid Nanoemulsion (BF-200 ALA) as a Light Sensitizing Cream Completed NCT02685592 Phase 4 5-aminolevulinic acid nanoemulsion
3 Clinical Study for the Evaluation of the Depigmenting Activity of a Cosmetic Product on Spotted Hand Skin Completed NCT02204436 Phase 3
4 A Randomised Controlled Multicentre Trial of Imiquimod Versus Radiotherapy for Lentigo Maligna (LM) When Staged Surgical Excision With 5mm Margins is Not Possible, is Refused, or Fails Recruiting NCT02394132 Phase 3 Imiquimod
5 A Multicenter, Randomized, Double-blind, Vehicle-controlled, Phase 3 Efficacy and Safety Study of Patidegib Topical Gel, 2%, for the Reduction of Disease Burden of Persistently Developing Basal Cell Carcinomas (BCCs) in Subjects With Basal Cell Nevus Syndrome Active, not recruiting NCT03703310 Phase 3 Patidegib Topical Gel, 2%;Patidegib Topical Gel, Vehicle
6 An Open Monocentric Pilot Study to Investigate the Potential of Imiquimod 5% Cream to Detect Residual and to Prevent Recurrence of Lentigo Maligna After Surgical Excision Active, not recruiting NCT01088737 Phase 2, Phase 3 Imiquimod
7 Relevance of Imiquimod as Neo-adjuvant Treatment to Reduce Excision Size and the Risk of Intralesional Excision in Lentigo Malignant of the Face Active, not recruiting NCT01720407 Phase 3 Imiquimod cream + surgery;Placebo + surgery
8 A Phase 3, Multicenter, Open-Label Extension Study of Patidegib Topical Gel, 2% in Subjects With Gorlin Syndrome (Basal Cell Nevus Syndrome) Not yet recruiting NCT04308395 Phase 3 Patidegib Topical Gel, 2%
9 A Randomized, Phase II Multicenter Trial Evaluating the Efficacy and Safety of a Systemic Hedgehog Pathway Antagonist (GDC-0449) in Patients With Basal Cell Nevus Syndrome (BCNS) Completed NCT00957229 Phase 2 GDC-0449
10 Solar Lentigines Treatment With the Triple Combination Cream (Hydroquinone 4%, Tretinoin 0.05%, and Fluocinolone Acetonide 0.01%). Randomized, Double Blind, Controlled Trial. Completed NCT00975312 Phase 2 Triple combination cream;Tretinoin 0.05%
11 Efficacy and Side Effects of Q-Switched Ruby Laser Treatment of Solar Lentigines in Two Different Fitzpatrick Skin Types II and IV Completed NCT00386204 Phase 2
12 A Phase II Study of AZD2171 in Previously Untreated Patients With Metastatic or Recurrent Malignant Melanoma Completed NCT00243061 Phase 2 cediranib maleate
13 Prospective Study of Ingenol Mebutate for Non-invasive Lentigo Melanoma of the Face - Study PICAMEL Recruiting NCT02723721 Phase 2 Picato gel
14 A Phase II Trial of SCH 727965 (NSC 747135) in Patients With Stage IV Melanoma Active, not recruiting NCT00937937 Phase 2 Dinaciclib
15 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
16 A Phase 1b/2a Study of ASN-002 to Treat Basal Cell Carcinomas (BCCs) in Individuals With Basal Cell Nevus Syndrome (BCNS) Suspended NCT03208296 Phase 1, Phase 2
17 Phase II Study of RO4929097 (NSC-749225) in Advanced Melanoma Terminated NCT01120275 Phase 2 gamma-secretase/Notch signalling pathway inhibitor RO4929097
18 Trial of Nivolumab With Vismodegib in Patients With Basal Cell Nevus Syndrome (BCNS) Withdrawn NCT03767439 Phase 2 Vismodegib;Nivolumab;Ipilimumab
19 A Phase I Study of Intralesional Administration of an Adenovirus Vector Expressing the HSV-1 Thymidine Kinase Gene (AdV.RSV-TK) in Combination With Escalating Doses of Ganciclovir in Patients With Cutaneous Metastatic Malignant Melanoma Completed NCT00005057 Phase 1 ganciclovir
20 Classification and Longitudinal Follow-up of Common Melanocytic Nevi With in Vivo Reflectance Confocal Microscopy Unknown status NCT01194947
21 Early Diagnosis of Malignant Melanoma Transformation in Pigmentary Skin Lesions Unknown status NCT01167998
22 Clinical, Histological and Biochemical Characterization of Hyperpigmented Lesion. Unknown status NCT01136629
23 Evaluate the Lightening Effect of the Whitening Cosmetic Product BEX-2011 on Solar Lentigines by Harmonic Generation Microscopy Unknown status NCT01249469
24 Dermoscopic Diagnosis, Histopathological Correlation, and Cellular Immortalization of Melanocytic Nevi and Primary Cutaneous Melanoma Completed NCT00288938
25 Melanocytic-Nevi-Counts During Chemotherapy of Children With Malignancies. Completed NCT00600431
26 The miRNA Machinery in Melanoma, Melanoma Metastases and Benign Melanocytic Naevi Completed NCT01444560
27 Clinical Evaluation of the Performance of a Difluoroethane-based Cyto-selective Cryotherapy to Treat Dark Spots on the Hand in 30 Volunteers. Completed NCT03157427
28 Pilot Trial Comparing Two Different Wavelengths of Light (Blue Versus Red) During Levulan™-Based Photodynamic Therapy of Basal Cell Carcinoma in Patients With Basal Cell Nevus Syndrome Completed NCT02157623 Levulan
29 Extension Protocol of BMS-833923 in Subjects With Basal Cell Nevus Syndrome Completed NCT02100371 BMS-833923
30 Study for the RevLite Laser System for Facial Solar Lentigines Completed NCT02110108
31 Prospective Clinical Trial to Assess the Performance of a Cyto-selective Cryotherapye "CRYOBEAUTY MAINS ET DECOLLETE" Compared With Liquid Nitrogen Cryotherapy in the Treatment of Solar Lentigines in 30 Patients Completed NCT03225729
32 Safety and Efficacy of Cutera Picosecond Q-Switched Nd:YAG Laser in the Treatment of Solar Lentigines Completed NCT01885871
33 A Single-Center 2-Arm Study of the Enlighten and Excel V Laser for Lentigines on the Hands Completed NCT02763072
34 Efficacy and Tolerance of D-pigment Versus Moisturizer in Hands' Lentigo Lesions With or Without Laser Therapy Completed NCT03457246
35 A Prospective Multi-Center Study of a Novel Dual-Wavelength, Dual-Pulse Duration Laser for the Treatment of Melasma and Lentigines in Asian Skin Completed NCT02385994
36 Combination Therapy With Imiquimod Cream 5% and Tazarotene Cream 0.1% for the Treatment of Lentigo Maligna Completed NCT00707174 Imiquimod Cream;Tazarotene Cream 0.1%
37 Effect of Topical Corticosteroids on the Incidence of Postinflammatory Hyperpigmentation Following Q-switched Nd:YAG 532 nm Laser for Treatment of Facial Lentigines - A Pilot Study Completed NCT02492373 topical 0.05% Clobetasol propionate ointment
38 Comparative Study Investigating the Therapy of of Solar Lentigines With the Q-switched SINON Rubin 694nm Laser Versus Pigmanorm® Cream Completed NCT02153697 Pigmanorm Cream
39 Safety and Efficacy of a Triple Combination Cream as Adjuvant Treatment of Solar Lentigines With Cryotherapy. Completed NCT01778179 Tri-luma
40 In Vivo Reflectance Confocal Microscopy for Pigmented Lesion Diagnosis: A Multi-center Study Completed NCT00785369
41 Effectiveness, Safety, and Cost Efficacy of Water (H2O) as a Substitute for Sodium Bicarbonate (NaHCO3) Plus Solution in Neutralization of Chemical Peeling Using 35% Glycolic Acid Solution Completed NCT04154436
42 The Impact of the Recreational Physical Activity on Irisin Levels, Endothelial Progenitor Cells and Metabolic Profile in Healthy Children Completed NCT02982967
43 Genetic Basis of Melanocytic Nevi Recruiting NCT03054584
44 A Multicenter, Ambispective, Low-interventional Clinical Study Evaluating Molecular Genetic Markers for Non-invasive Differential Diagnosis of Benign and Malignant Pigmented Skin and Mucosal Neoplasms Recruiting NCT04353050
45 Imaging Modalities for Melanoma Screening Recruiting NCT03699995 Lidocaine
46 Quality of Life and Experience of Stigmatization in Children With Congenital Melanocytic Nevi Before and After Nevus Excision: a Prospective Study Recruiting NCT02280889
47 Advanced Harmonic Generation Microscopy for Treatment Assessment of Cutaneous Pigmentary Disorder Recruiting NCT03578315
48 Family Study of Melanoma in Italy Recruiting NCT00339222
49 Reflectance Confocal Microscopy to Diagnose Malignant Melanoma and Lentigo Maligna Recruiting NCT03508297
50 Melanoma Family Case-Control Study Protocol Recruiting NCT00445783

Search NIH Clinical Center for Melanocytic Nevus Syndrome, Congenital

Cochrane evidence based reviews: lentigo

Genetic Tests for Melanocytic Nevus Syndrome, Congenital

Anatomical Context for Melanocytic Nevus Syndrome, Congenital

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

40
Skin, Brain, Endothelial, Pituitary, Thyroid

Publications for Melanocytic Nevus Syndrome, Congenital

Articles related to Melanocytic Nevus Syndrome, Congenital:

(show all 37)
# Title Authors PMID Year
1
Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS. 6 56
23392294 2013
2
[Congenital giant pigmented hairy nevus--case report]. 61 56
11089376 2000
3
Epidermal nevi and localized cranial defects. 56 61
10096594 1999
4
Inheritance of giant pigmented hairy nevus of the scalp. 61 56
7258230 1981
5
Giant pigmented hairy nevus in two siblings. 61 56
4426633 1974
6
Activating HRAS mutation in nevus spilus. 56
24390138 2014
7
Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia. 6
24006476 2014
8
Activating HRAS mutation in agminated Spitz nevi arising in a nevus spilus. 56
23884457 2013
9
The face in congenital melanocytic nevus syndrome. 56
22438093 2012
10
Keratinocytic epidermal nevi are associated with mosaic RAS mutations. 6
22499344 2012
11
Familial clustering of giant congenital melanocytic nevi. 56
19464972 2010
12
Genotypic and gene expression studies in congenital melanocytic nevi: insight into initial steps of melanotumorigenesis. 6
18633438 2009
13
Complications of congenital melanocytic naevi in children: analysis of 16 years' experience and clinical practice. 56
18671780 2008
14
RAS point mutations and PAX8-PPAR gamma rearrangement in thyroid tumors: evidence for distinct molecular pathways in thyroid follicular carcinoma. 6
12727991 2003
15
Giant congenital melanocytic nevi: the significance of neurocutaneous melanosis in neurologically asymptomatic children. 56
11252085 2001
16
Chromosomal findings in cultured melanocytes from a giant congenital nevus. 56
8330286 1993
17
Amino-acid substitution at codon 13 of the N-ras oncogene in rectal cancer in a Japanese patient. 6
3102434 1987
18
Giant pigmented nevus occurring in one identical twin. 56
7199895 1982
19
Epidemiology of congenital pigmented naevi: I. Incidence rates and relative frequencies. 56
7213564 1981
20
Genetic considerations in giant pigmented hairy naevus. 56
5571029 1971
21
Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A): an update. 54
20358582 2010
22
Possible association between Carney complex and multiple endocrine neoplasia type 1 phenotypes. 54
19169494 2008
23
Primary pigmented nodular adrenocortical disease associated with Carney complex: case report and literature review. 54
17322955 2006
24
Interaction between stem cell factor and endothelin-1: effects on melanogenesis in human skin xenografts. 54
16940961 2006
25
Adrenal pathophysiology: lessons from the Carney complex. 54
16192737 2005
26
The epidermal stem cell factor is over-expressed in lentigo senilis: implication for the mechanism of hyperpigmentation. 54
15140230 2004
27
Autocrine and paracrine regulation of melanocytes in human skin and in pigmentary disorders. 54
15016298 2004
28
Pathology and molecular genetics of the pituitary gland in patients with the 'complex of spotty skin pigmentation, myxomas, endocrine overactivity and schwannomas' (Carney complex). 54
15281351 2004
29
Chromosome 2 (2p16) abnormalities in Carney complex tumours. 54
12676898 2003
30
Relationship between DNA ploidy-related parameters and the deletions in mismatch repair genes MLH1 and MSH2 in lentigo maligna and malignant melanomas. 54
11409565 2001
31
The role of the epidermal endothelin cascade in the hyperpigmentation mechanism of lentigo senilis. 54
11286625 2001
32
Ovarian lesions in Carney complex: clinical genetics and possible predisposition to malignancy. 54
11095480 2000
33
Genetic and histologic studies of somatomammotropic pituitary tumors in patients with the "complex of spotty skin pigmentation, myxomas, endocrine overactivity and schwannomas" (Carney complex). 54
11061550 2000
34
Genetics of Peutz-Jeghers syndrome, Carney complex and other familial lentiginoses. 54
11595829 2000
35
Synaptophysin immunoreactivity in primary pigmented nodular adrenocortical disease: neuroendocrine properties of tumors associated with Carney complex. 54
10084605 1999
36
"Giant pigmented hairy nevus in von-Recklinghausen's disease". 61
3108231 1986
37
Giant pigmented hairy nevus. 61
5975780 1966

Variations for Melanocytic Nevus Syndrome, Congenital

ClinVar genetic disease variations for Melanocytic Nevus Syndrome, Congenital:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HRAS NM_005343.4(HRAS):c.35G>C (p.Gly12Ala)SNV Pathogenic 12603 rs104894230 11:534288-534288 11:534288-534288
2 HRAS NM_005343.4(HRAS):c.37G>T (p.Gly13Cys)SNV Pathogenic 12606 rs104894228 11:534286-534286 11:534286-534286
3 HRAS NM_005343.4(HRAS):c.34G>T (p.Gly12Cys)SNV Pathogenic 12613 rs104894229 11:534289-534289 11:534289-534289
4 NRAS NM_002524.5(NRAS):c.182A>G (p.Gln61Arg)SNV Pathogenic 13900 rs11554290 1:115256529-115256529 1:114713908-114713908
5 NRAS NM_002524.5(NRAS):c.37G>C (p.Gly13Arg)SNV Pathogenic/Likely pathogenic 13899 rs121434595 1:115258745-115258745 1:114716124-114716124
6 NRAS NM_002524.5(NRAS):c.181C>A (p.Gln61Lys)SNV Conflicting interpretations of pathogenicity 73058 rs121913254 1:115256530-115256530 1:114713909-114713909
7 46;X;inv(X)(q26q28)dninversion Uncertain significance 267819
8 HRAS NM_005343.4(HRAS):c.520C>T (p.Pro174Ser)SNV Benign 40448 rs397517144 11:532686-532686 11:532686-532686

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

73
# 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

Cosmic variations for Melanocytic Nevus Syndrome, Congenital:

9 (show top 50) (show all 3454)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM96588509 ZNF451 skin,neck,malignant melanoma,NS c.2114T>G p.I705S 6:57148199-57148199 9
2 COSM143038077 YAP1 skin,neck,malignant melanoma,NS c.1303C>T p.Q435* 11:102229716-102229716 9
3 COSM100846864 XRCC5 skin,face,malignant melanoma,NS c.1169T>C p.V390A 2:216137143-216137143 9
4 COSM91371545 WT1 skin,face,malignant melanoma,NS c.745C>T p.P249S 11:32428521-32428521 9
5 COSM91367944 WT1 skin,face,malignant melanoma,NS c.1202G>A p.R401K 11:32396304-32396304 9
6 COSM91367549 WT1 skin,neck,malignant melanoma,NS c.1373G>A p.R458Q 11:32392031-32392031 9
7 COSM91365640 WT1 skin,face,malignant melanoma,NS c.948G>A p.K316= 11:32417579-32417579 9
8 COSM91380314 WT1 skin,face,malignant melanoma,NS c.904G>A p.E302K 11:32417623-32417623 9
9 COSM85460733 WRN skin,face,malignant melanoma,NS c.2569C>A p.R857S 8:31120363-31120363 9
10 COSM85457825 WRN skin,neck,malignant melanoma,NS c.1785C>A p.I595= 8:31090898-31090898 9
11 COSM85460741 WRN skin,face,malignant melanoma,NS c.3523C>A p.P1175T 8:31147427-31147427 9
12 COSM84680278 VAT1L skin,neck,malignant melanoma,NS c.246C>T p.F82= 16:77816933-77816933 9
13 COSM88847193 USP9X skin,face,malignant melanoma,NS c.644G>T p.R215L 23:41137012-41137012 9
14 COSM88847184 USP9X skin,face,malignant melanoma,NS c.321G>T p.K107N 23:41131535-41131535 9
15 COSM88847199 USP9X skin,face,malignant melanoma,NS c.4672G>T p.G1558W 23:41201128-41201128 9
16 COSM89718715 UGT1A9 skin,face,malignant melanoma,NS c.856-6121G>T p.? 2:233760913-233760913 9
17 COSM98054770 UGT1A8 skin,face,malignant melanoma,NS c.856-6121G>T p.? 2:233760913-233760913 9
18 COSM97940137 UGT1A7 skin,face,malignant melanoma,NS c.856-6121G>T p.? 2:233760913-233760913 9
19 COSM86918156 UGT1A6 skin,face,malignant melanoma,NS c.862-6121G>T p.? 2:233760913-233760913 9
20 COSM97892419 UGT1A5 skin,face,malignant melanoma,NS c.868-6121G>T p.? 2:233760913-233760913 9
21 COSM97870721 UGT1A4 skin,face,malignant melanoma,NS c.868-6121G>T p.? 2:233760913-233760913 9
22 COSM117394516 UGT1A3 skin,face,malignant melanoma,NS c.868-6121G>T p.? 2:233760913-233760913 9
23 COSM89699099 UGT1A10 skin,face,malignant melanoma,NS c.856-6121G>T p.? 2:233760913-233760913 9
24 COSM86954711 UGT1A1 skin,face,malignant melanoma,NS c.626G>T p.R209L 2:233760913-233760913 9
25 COSM131088267 TSHR skin,face,malignant melanoma,NS c.750G>A p.K250= 14:81139736-81139736 9
26 COSM131095867 TSHR skin,face,malignant melanoma,NS c.675C>A p.Y225* 14:81108435-81108435 9
27 COSM131089767 TSHR skin,face,malignant melanoma,NS c.751G>A p.E251K 14:81139737-81139737 9
28 COSM87027807 TSC2 skin,neck,malignant melanoma,NS c.626C>T p.T209I 16:2056222-2056222 9
29 COSM85726263 TSC1 skin,face,malignant melanoma,NS c.827C>T p.S276F 9:132912368-132912368 9
30 COSM94313428 TRRAP skin,face,malignant melanoma,NS c.3310G>A p.E1104K 7:98930123-98930123 9
31 COSM94305848 TRRAP skin,neck,malignant melanoma,NS c.4150G>C p.E1384Q 7:98937194-98937194 9
32 COSM94329812 TRRAP skin,face,malignant melanoma,NS c.5170C>A p.R1724S 7:98950119-98950119 9
33 COSM94325471 TRRAP skin,face,malignant melanoma,NS c.8976C>T p.F2992= 7:98983434-98983434 9
34 COSM94305835 TRRAP skin,neck,malignant melanoma,NS c.3048G>A p.K1016= 7:98927239-98927239 9
35 COSM94329803 TRRAP skin,face,malignant melanoma,NS c.1731C>A p.P577= 7:98910526-98910526 9
36 COSM94313406 TRRAP skin,face,malignant melanoma,NS c.388C>T p.L130F 7:98893819-98893819 9
37 COSM94305873 TRRAP skin,neck,malignant melanoma,NS c.9803C>T p.P3268L 7:98992171-98992171 9
38 COSM94305826 TRRAP skin,neck,malignant melanoma,NS c.687C>T p.P229= 7:98899475-98899475 9
39 COSM94313436 TRRAP skin,face,malignant melanoma,NS c.10370A>C p.K3457T 7:99004292-99004292 9
40 COSM94329821 TRRAP skin,face,malignant melanoma,NS c.7325C>T p.A2442V 7:98967532-98967532 9
41 COSM99600832 TRPM3 skin,face,malignant melanoma,NS c.4559C>T p.S1520F 9:70536518-70536518 9
42 COSM99587234 TRPM3 skin,neck,malignant melanoma,NS c.2833G>A p.D945N 9:70598598-70598598 9
43 COSM99608089 TRPM3 skin,neck,malignant melanoma,NS c.3995C>T p.P1332L 9:70537082-70537082 9
44 COSM99599815 TRPM3 skin,face,malignant melanoma,NS c.3004G>A p.G1002R 9:70598427-70598427 9
45 COSM99600900 TRPM3 skin,face,malignant melanoma,NS c.1443G>A p.W481* 9:70640563-70640563 9
46 COSM99600888 TRPM3 skin,face,malignant melanoma,NS c.2780G>A p.G927E 9:70598651-70598651 9
47 COSM99607679 TRPM3 skin,neck,malignant melanoma,NS c.4004G>A p.R1335Q 9:70537073-70537073 9
48 COSM133607682 TRPM1 skin,face,malignant melanoma,NS c.3114C>T p.A1038= 15:31031047-31031047 9
49 COSM133613179 TRPM1 skin,face,malignant melanoma,NS c.2516G>A p.R839K 15:31037817-31037817 9
50 COSM87901856 TP53 skin,face,malignant melanoma,NS c.746G>T p.R249M 17:7674217-7674217 9

Expression for Melanocytic Nevus Syndrome, Congenital

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

Pathways for Melanocytic Nevus Syndrome, Congenital

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

(show all 25)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.65 STK11 PRKAR1A NRAS KITLG HRAS
2
Show member pathways
12.62 PRKAR1A NRAS HRAS EDN1
3
Show member pathways
12.62 NRAS MSH2 MLH1 HRAS
4
Show member pathways
12.49 NRAS KITLG HRAS EDN1
5
Show member pathways
12.2 TYR NRAS MC1R KITLG HRAS EDN1
6 11.95 PRKAR1A MSH2 MLH1
7
Show member pathways
11.88 STK11 NRAS HRAS
8
Show member pathways
11.87 PRKAR1A NRAS HRAS
9 11.83 NRAS MSH2 MLH1 KITLG HRAS EDN1
10
Show member pathways
11.81 STK11 NRAS HRAS
11 11.79 STK11 NRAS HRAS
12 11.58 NRAS HRAS EDN1
13 11.31 PRKAR1A NRAS KITLG HRAS
14 11.14 NRAS HRAS
15 11.09 NRAS HRAS
16 11.09 NRAS HRAS
17
Show member pathways
11.08 HRAS EDN1
18 11.06 MSH2 MLH1
19
Show member pathways
11.05 NRAS HRAS
20 11.05 PRKAR1A MC1R KITLG
21 10.93 NRAS HRAS
22 10.89 NRAS HRAS
23 10.84 NRAS HRAS
24
Show member pathways
10.75 NRAS HRAS EDN1
25 10.57 NRAS HRAS

GO Terms for Melanocytic Nevus Syndrome, Congenital

Cellular components related to Melanocytic Nevus Syndrome, Congenital according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mismatch repair complex GO:0032300 8.62 MSH2 MLH1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cell cycle arrest GO:0007050 9.61 STK11 MSH2 HRAS
2 positive regulation of Ras protein signal transduction GO:0046579 9.49 KITLG HRAS
3 mismatch repair GO:0006298 9.48 MSH2 MLH1
4 isotype switching GO:0045190 9.46 MSH2 MLH1
5 positive regulation of MAP kinase activity GO:0043406 9.43 KITLG HRAS EDN1
6 somatic hypermutation of immunoglobulin genes GO:0016446 9.4 MSH2 MLH1
7 melanin biosynthetic process GO:0042438 9.37 TYR MC1R
8 positive regulation of isotype switching to IgG isotypes GO:0048304 9.32 MSH2 MLH1
9 positive regulation of isotype switching to IgA isotypes GO:0048298 9.16 MSH2 MLH1
10 somatic recombination of immunoglobulin gene segments GO:0016447 8.96 MSH2 MLH1
11 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 8.62 MSH2 MLH1

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

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.63 STK11 PRKAR1A NRAS MSH2 MLH1 HRAS
2 mismatched DNA binding GO:0030983 8.96 MSH2 MLH1
3 guanine/thymine mispair binding GO:0032137 8.62 MSH2 MLH1

Sources for Melanocytic Nevus Syndrome, Congenital

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
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