CMNS
MCID: MLN065
MIFTS: 61

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 57 72
Giant Pigmented Hairy Nevus 57 73 58 72 6 39 70
Epithelioid and Spindle Cell Nevus 17 70
Giant Congenital Pigmented Nevus 57 72
Pigmented Moles 57 72
Nevus Spilus 72 70
Lentigo 44 70
Cmns 57 72
Gphn 57 72
Melanocytic Nevus Syndrome, Congenital, Somatic 57
Spitz Nevus or Nevus Spilus, Somatic 57
Nevus, Spindle Cell and Epithelioid 72
Nevus, Epithelioid and Spindle Cell 44
Large Congenital Melanocytic Nevus 58
Giant Congenital Melanocytic Nevus 58
Spindle Cell and Epithelioid Nevus 72
Giant Pigmented Hairy Nevus; Gphn 57
Congenital Melanocytic Nevus 70
Congenital Pigmented Nevus 58
Speckled Lentiginous Nevus 72
Melanocytic Nevus of Skin 70
Melanocytic Nevus 70
Nevus, Pigmented 44
Nevoid Lentigo 72
Nevus, Spitz 72
Spitz Nevus 72
Nevuspi 72
Spitzn 72
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®:

57 (Updated 05-Apr-2021)
Inheritance:
somatic mutation

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


HPO:

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


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

OMIM® 57 137550
ICD10 via Orphanet 33 Q82.5
UMLS via Orphanet 71 C1318558 C1842036
Orphanet 58 ORPHA626
UMLS 70 C0023321 C0027962 C0206739 more

Summaries for Melanocytic Nevus Syndrome, Congenital

OMIM® : 57 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) (Updated 05-Apr-2021)

MalaCards based summary : Melanocytic Nevus Syndrome, Congenital, also known as giant pigmented hairy nevus, is related to nevus, epidermal and spitzoid melanoma. 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 Endometrial cancer. The drugs Aminolevulinic acid and Photosensitizing Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, bone marrow and bone, and related phenotypes are cutaneous melanoma and congenital giant melanocytic nevus

UniProtKB/Swiss-Prot : 72 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 : 73 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 344)
# Related Disease Score Top Affiliating Genes
1 nevus, epidermal 32.3 NRAS LRRC56 HRAS
2 spitzoid melanoma 32.3 NRAS HRAS
3 large congenital melanocytic nevus 32.0 NRAS MC1R LRRC56 HRAS
4 actinic keratosis 30.8 TYR MC1R HRAS
5 conjunctival nevus 30.6 NRAS HRAS
6 spitz nevus 30.6 LRRC56 HRAS
7 schimmelpenning-feuerstein-mims syndrome 30.5 NRAS LRRC56 HRAS
8 nodular malignant melanoma 30.3 TYR NRAS MC1R HRAS
9 malignant conjunctival melanoma 30.3 NRAS HRAS
10 lentigines 30.3 PRKAR1A MC1R
11 acral lentiginous melanoma 30.3 NRAS MC1R HRAS
12 carney complex variant 30.2 STK11 PRKAR1A CNC2
13 neurilemmoma 30.1 TYR PRKAR1A CNC2
14 malignant spindle cell melanoma 30.0 TYR NRAS HRAS
15 neurofibromatosis 29.9 MSH2 MLH1 HRAS
16 vitiligo-associated multiple autoimmune disease susceptibility 1 29.9 TYR MC1R KITLG
17 skin disease 29.9 TYR NRAS MC1R HRAS
18 melanoma in congenital melanocytic nevus 29.8 TYR NRAS MC1R HRAS
19 melanoma 29.6 TYR STK11 NRAS MC1R LRRC56 HRAS
20 dowling-degos disease 1 29.3 TYR STK11 KITLG EDN1
21 basal cell carcinoma 29.3 TYR MSH2 MLH1 MC1R
22 rhabdomyosarcoma 29.3 NRAS MSH2 MLH1 LRRC56 HRAS
23 skin carcinoma 28.6 TYR STK11 NRAS MSH2 MLH1 MC1R
24 skin melanoma 28.4 TYR STK11 NRAS MLH1 MC1R LRRC56
25 lentigo maligna melanoma 11.5
26 molybdenum cofactor deficiency, complementation group c 11.4
27 molybdenum cofactor deficiency 11.3
28 hyperekplexia 11.2
29 mosaic trisomy 22 11.1
30 melanosis, neurocutaneous 11.1
31 stiff-person syndrome 11.1
32 sulfite oxidase deficiency, isolated 11.0
33 molybdenum cofactor deficiency, complementation group a 11.0
34 autism 11.0
35 autism spectrum disorder 11.0
36 disease of mental health 11.0
37 seizure disorder 10.9
38 hyperekplexia 1 10.8
39 kaufman oculocerebrofacial syndrome 10.8
40 epilepsy, myoclonic juvenile 10.8
41 fragile x syndrome 10.8
42 ritscher-schinzel syndrome 2 10.8
43 epilepsy, idiopathic generalized 10.8
44 glycine encephalopathy 10.8
45 dravet syndrome 10.8
46 kagami-ogata syndrome 10.8
47 alacrima, achalasia, and mental retardation syndrome 10.8
48 early infantile epileptic encephalopathy 10.8
49 pervasive developmental disorder 10.8
50 childhood absence epilepsy 10.8

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 cutaneous melanoma 58 31 Occasional (29-5%) HP:0012056
2 congenital giant melanocytic nevus 58 31 Very frequent (99-80%) HP:0005600
3 seizures 58 Occasional (29-5%)
4 hydrocephalus 58 Occasional (29-5%)
5 hypertelorism 31 HP:0000316
6 short nose 31 HP:0003196
7 prominent forehead 31 HP:0011220
8 full cheeks 31 HP:0000293
9 everted lower lip vermilion 31 HP:0000232
10 nevus 58 Very frequent (99-80%)
11 subcutaneous nodule 58 Occasional (29-5%)
12 neoplasm 58 Frequent (79-30%)
13 sarcoma 58 Occasional (29-5%)
14 open mouth 31 HP:0000194
15 long philtrum 31 HP:0000343
16 deep philtrum 31 HP:0002002
17 neoplasm of the skin 58 Occasional (29-5%)
18 rhabdomyosarcoma 58 Occasional (29-5%)
19 generalized hirsutism 58 Frequent (79-30%)
20 hypopigmented skin patches 58 Occasional (29-5%)
21 broad forehead 31 HP:0000337
22 round face 31 HP:0000311
23 abnormality of skin pigmentation 58 Very frequent (99-80%)
24 pruritus 58 Occasional (29-5%)
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®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Melanocytic Nevus Syndrome, Congenital:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.06 EDN1 HRAS KITLG LRRC56 MC1R MLH1
2 craniofacial MP:0005382 10.03 EDN1 HRAS KITLG MC1R NRAS PRKAR1A
3 digestive/alimentary MP:0005381 10.01 EDN1 HRAS KITLG MLH1 MSH2 NRAS
4 endocrine/exocrine gland MP:0005379 9.97 EDN1 HRAS KITLG MLH1 NRAS PRKAR1A
5 integument MP:0010771 9.91 HRAS KITLG MC1R MLH1 MSH2 NRAS
6 mortality/aging MP:0010768 9.85 EDN1 HRAS KITLG LRRC56 MLH1 MSH2
7 neoplasm MP:0002006 9.61 HRAS KITLG MC1R MLH1 MSH2 NRAS
8 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 61)
# 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
Imiquimod Approved, Investigational Phase 2, Phase 3 99011-02-6 57469
4 Antihypertensive Agents Phase 3
5 Veratrum Alkaloids Phase 3
6 Immunologic Factors Phase 2, Phase 3
7 Adjuvants, Immunologic Phase 2, Phase 3
8 interferons Phase 2, Phase 3
9
Fluocinolone Acetonide Approved, Investigational, Vet_approved Phase 2 67-73-2 6215
10
Hydroquinone Approved, Investigational Phase 2 123-31-9 785
11
Everolimus Approved Phase 2 159351-69-6 6442177 70789204
12
Sirolimus Approved, Investigational Phase 2 53123-88-9 6436030 5284616
13
Lenvatinib Approved, Investigational Phase 2 417716-92-8
14
Tretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4 444795 5538
15
Asparagine Approved, Investigational, Nutraceutical Phase 1, Phase 2 70-47-3 6267
16
Cediranib Investigational Phase 2 288383-20-0 9933475
17
Maleic acid Experimental Phase 2 110-16-7 444266
18 Keratolytic Agents Phase 2
19 Pharmaceutical Solutions Phase 1, Phase 2
20 Immunosuppressive Agents Phase 2
21 Protein Kinase Inhibitors Phase 2
22 Interferon-gamma Phase 1, Phase 2
23
Acetylcysteine Approved, Investigational 616-91-1 12035
24
Tadalafil Approved, Investigational 171596-29-5 110635
25
Tazarotene Approved, Investigational 118292-40-3 5381
26
Petrolatum Approved, Investigational 8009-03-8
27
Clobetasol Approved, Experimental, Investigational 25122-41-2, 25122-46-7 32798 5311051
28
Neomycin Approved, Vet_approved 1404-04-2 8378
29
Formaldehyde Approved, Vet_approved 50-00-0 712
30
Chlorhexidine Approved, Vet_approved 55-56-1 2713 9552079
31
Lidocaine Approved, Vet_approved 137-58-6 3676
32
Prilocaine Approved 721-50-6 4906
33
Tetracaine Approved, Vet_approved 94-24-6 5411
34 carnitine
35 Respiratory System Agents
36 Phosphodiesterase 5 Inhibitors
37 Expectorants
38 Antioxidants
39 Antidotes
40 Antiviral Agents
41 Anti-Infective Agents
42 Phosphodiesterase Inhibitors
43 Protective Agents
44 N-monoacetylcystine
45 Mitogens
46 Emollients
47 Hormone Antagonists
48 glucocorticoids
49 Hormones
50 Anti-Inflammatory Agents

Interventional clinical trials:

(show top 50) (show all 59)
# 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 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 Completed NCT03703310 Phase 3 Patidegib Topical Gel, 2%;Patidegib Topical Gel, Vehicle
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 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
6 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
7 A Phase 3, Multicenter, Open-Label Extension Study of Patidegib Topical Gel, 2% in Subjects With Gorlin Syndrome (Basal Cell Nevus Syndrome) Enrolling by invitation NCT04308395 Phase 3 Patidegib Topical Gel, 2%
8 Prospective Study of Ingenol Mebutate for Non-invasive Lentigo Melanoma of the Face - Study PICAMEL Unknown status NCT02723721 Phase 2 Picato gel
9 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%
10 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
11 Phase I/II Clinical Trial on The Use of Autologous Bone Marrow Stem Cells in Amyotrophic Lateral Sclerosis (Extension CMN/ELA) Completed NCT01254539 Phase 1, 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 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
14 A Phase 2b Randomized Trial of Autologous Dendritic Cell Immunotherapy (CMN-001) Plus Standard Treatment of Advanced Renal Cell Carcinoma Recruiting NCT04203901 Phase 2 Lenvatinib+Everolimus
15 A Phase II Trial of SCH 727965 (NSC 747135) in Patients With Stage IV Melanoma Active, not recruiting NCT00937937 Phase 2 Dinaciclib
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 Classification and Longitudinal Follow-up of Common Melanocytic Nevi With in Vivo Reflectance Confocal Microscopy Unknown status NCT01194947
20 Early Diagnosis of Malignant Melanoma Transformation in Pigmentary Skin Lesions Unknown status NCT01167998
21 Potentially Nephroprotective Effects of Carnitine and Phosphodiesterase Type 5 (PDE5) Inhibitor Agent Against Contrast Media-induced Nephropathy (CMN): A Double Blind Randomized Study Unknown status NCT01564303 Acetylcysteine, Phosphodiesterase type 5 inhibitor ,Carnitine
22 Reflectance Confocal Microscopy to Diagnose Malignant Melanoma and Lentigo Maligna Unknown status NCT03508297
23 Clinical, Histological and Biochemical Characterization of Hyperpigmented Lesion. Unknown status NCT01136629
24 Evaluate the Lightening Effect of the Whitening Cosmetic Product BEX-2011 on Solar Lentigines by Harmonic Generation Microscopy Unknown status NCT01249469
25 Dermoscopic Diagnosis, Histopathological Correlation, and Cellular Immortalization of Melanocytic Nevi and Primary Cutaneous Melanoma Completed NCT00288938
26 Melanocytic-Nevi-Counts During Chemotherapy of Children With Malignancies. Completed NCT00600431
27 Family Study of Melanoma in Italy Completed NCT00339222
28 The miRNA Machinery in Melanoma, Melanoma Metastases and Benign Melanocytic Naevi Completed NCT01444560
29 Extension Protocol of BMS-833923 in Subjects With Basal Cell Nevus Syndrome Completed NCT02100371 BMS-833923
30 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
31 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%
32 Efficacy and Tolerance of D-pigment Versus Moisturizer in Hands' Lentigo Lesions With or Without Laser Therapy Completed NCT03457246
33 Clinical Evaluation of the Performance of a Difluoroethane-based Cyto-selective Cryotherapy to Treat Dark Spots on the Hand in 30 Volunteers. Completed NCT03157427
34 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
35 A Randomized Controlled Trial on the Effectiveness of Epidermal Growth Factor-containing Ointment on the Treatment of Solar Lentigines as Adjuvant Therapy Completed NCT04704245 epidermal growth factor (EGF)-containing ointment;Vehicle ointment
36 Safety and Efficacy of Cutera Picosecond Q-Switched Nd:YAG Laser in the Treatment of Solar Lentigines Completed NCT01885871
37 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
38 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
39 Safety and Efficacy of a Triple Combination Cream as Adjuvant Treatment of Solar Lentigines With Cryotherapy. Completed NCT01778179 Tri-luma
40 A Single-Center 2-Arm Study of the Enlighten and Excel V Laser for Lentigines on the Hands Completed NCT02763072
41 In Vivo Reflectance Confocal Microscopy for Pigmented Lesion Diagnosis: A Multi-center Study Completed NCT00785369
42 Comparative Study Investigating the Therapy of of Solar Lentigines With the Q-switched SINON Rubin 694nm Laser Versus Pigmanorm® Cream Completed NCT02153697 Pigmanorm Cream
43 Study for the RevLite Laser System for Facial Solar Lentigines Completed NCT02110108
44 Genetic Basis of Melanocytic Nevi Recruiting NCT03054584
45 Quality of Life and Experience of Stigmatization in Children With Congenital Melanocytic Nevi Before and After Nevus Excision: a Prospective Study Recruiting NCT02280889
46 Imaging Modalities for Melanoma Screening Recruiting NCT03699995 Lidocaine
47 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
48 Prospective Registry of Patients With Neurocutaneous Melanocytosis (NCM) Including Cutaneous and CNS Involvement Recruiting NCT04548817
49 The Analysis of the Inflammatory Response and the Development of Humoral and Cellular Immunity in Patients With Coronavirus Disease 2019 (COVID-19) Recruiting NCT04423640
50 Advanced Harmonic Generation Microscopy for Treatment Assessment of Cutaneous Pigmentary Disorder Recruiting NCT03578315

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, Bone Marrow, Bone, Thyroid, Pituitary

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. 57 6
23392294 2013
2
[Congenital giant pigmented hairy nevus--case report]. 61 57
11089376 2000
3
Epidermal nevi and localized cranial defects. 57 61
10096594 1999
4
Inheritance of giant pigmented hairy nevus of the scalp. 57 61
7258230 1981
5
Giant pigmented hairy nevus in two siblings. 61 57
4426633 1974
6
Activating HRAS mutation in nevus spilus. 57
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. 57
23884457 2013
9
The face in congenital melanocytic nevus syndrome. 57
22438093 2012
10
Keratinocytic epidermal nevi are associated with mosaic RAS mutations. 6
22499344 2012
11
Familial clustering of giant congenital melanocytic nevi. 57
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. 57
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. 57
11252085 2001
16
Chromosomal findings in cultured melanocytes from a giant congenital nevus. 57
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. 57
7199895 1982
19
Epidemiology of congenital pigmented naevi: I. Incidence rates and relative frequencies. 57
7213564 1981
20
Genetic considerations in giant pigmented hairy naevus. 57
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
Interaction between stem cell factor and endothelin-1: effects on melanogenesis in human skin xenografts. 54
16940961 2006
24
Primary pigmented nodular adrenocortical disease associated with Carney complex: case report and literature review. 54
17322955 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 Position
1 NRAS NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) SNV Pathogenic 73058 rs121913254 GRCh37: 1:115256530-115256530
GRCh38: 1:114713909-114713909
2 HRAS , LRRC56 NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) SNV Pathogenic 12603 rs104894230 GRCh37: 11:534288-534288
GRCh38: 11:534288-534288
3 HRAS , LRRC56 NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) SNV Pathogenic 12613 rs104894229 GRCh37: 11:534289-534289
GRCh38: 11:534289-534289
4 NRAS NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) SNV Pathogenic 13900 rs11554290 GRCh37: 1:115256529-115256529
GRCh38: 1:114713908-114713908
5 HRAS , LRRC56 NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) SNV Pathogenic 12606 rs104894228 GRCh37: 11:534286-534286
GRCh38: 11:534286-534286
6 NRAS NM_002524.5(NRAS):c.37G>C (p.Gly13Arg) SNV Pathogenic 13899 rs121434595 GRCh37: 1:115258745-115258745
GRCh38: 1:114716124-114716124
7 HRAS , LRRC56 NM_005343.4(HRAS):c.520C>T (p.Pro174Ser) SNV Likely benign 40448 rs397517144 GRCh37: 11:532686-532686
GRCh38: 11:532686-532686

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

72
# 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 COSM95964482 ZNF451 skin,neck,malignant melanoma,NS c.2114T>G p.I705S 6:57148199-57148199 9
2 COSM96588509 ZNF451 skin,neck,malignant melanoma,NS c.2114T>G p.I705S 6:57148199-57148199 9
3 COSM119021797 ZNF451 skin,neck,malignant melanoma,NS c.2114T>G p.I705S 6:57148199-57148199 9
4 COSM143038077 YAP1 skin,neck,malignant melanoma,NS c.1303C>T p.Q435* 11:102229716-102229716 9
5 COSM128448849 YAP1 skin,neck,malignant melanoma,NS c.1129C>T p.Q377* 11:102229716-102229716 9
6 COSM145025271 YAP1 skin,neck,malignant melanoma,NS c.1141C>T p.Q381* 11:102229716-102229716 9
7 COSM127995004 YAP1 skin,neck,malignant melanoma,NS c.1243C>T p.Q415* 11:102229716-102229716 9
8 COSM133269851 YAP1 skin,neck,malignant melanoma,NS c.1255C>T p.Q419* 11:102229716-102229716 9
9 COSM126969981 YAP1 skin,neck,malignant melanoma,NS c.757C>T p.Q253* 11:102229716-102229716 9
10 COSM90944416 YAP1 skin,neck,malignant melanoma,NS c.1189C>T p.Q397* 11:102229716-102229716 9
11 COSM85233895 YAP1 skin,neck,malignant melanoma,NS c.1291C>T p.Q431* 11:102229716-102229716 9
12 COSM100846864 XRCC5 skin,face,malignant melanoma,NS c.1169T>C p.V390A 2:216137143-216137143 9
13 COSM100838650 XRCC5 skin,face,malignant melanoma,NS c.1169T>C p.V390A 2:216137143-216137143 9
14 COSM130507721 WT1 skin,face,malignant melanoma,NS c.515G>A p.R172K 11:32396304-32396304 9
15 COSM111525675 WT1 skin,neck,malignant melanoma,NS c.1322G>A p.R441Q 11:32392031-32392031 9
16 COSM113471589 WT1 skin,neck,malignant melanoma,NS c.1373G>A p.R458Q 11:32392031-32392031 9
17 COSM149724575 WT1 skin,neck,malignant melanoma,NS c.1373G>A p.R458Q 11:32392031-32392031 9
18 COSM100770828 WT1 skin,face,malignant melanoma,NS c.109C>T p.P37S 11:32428521-32428521 9
19 COSM91371545 WT1 skin,face,malignant melanoma,NS c.745C>T p.P249S 11:32428521-32428521 9
20 COSM148575284 WT1 skin,neck,malignant melanoma,NS c.1373G>A p.R458Q 11:32392031-32392031 9
21 COSM149728124 WT1 skin,face,malignant melanoma,NS c.745C>T p.P249S 11:32428521-32428521 9
22 COSM113472029 WT1 skin,face,malignant melanoma,NS c.1202G>A p.R401K 11:32396304-32396304 9
23 COSM91367944 WT1 skin,face,malignant melanoma,NS c.1202G>A p.R401K 11:32396304-32396304 9
24 COSM100765206 WT1 skin,face,malignant melanoma,NS c.312G>A p.K104= 11:32417579-32417579 9
25 COSM130516469 WT1 skin,face,malignant melanoma,NS c.268G>A p.E90K 11:32417623-32417623 9
26 COSM91367549 WT1 skin,neck,malignant melanoma,NS c.1373G>A p.R458Q 11:32392031-32392031 9
27 COSM130505538 WT1 skin,face,malignant melanoma,NS c.312G>A p.K104= 11:32417579-32417579 9
28 COSM148590318 WT1 skin,face,malignant melanoma,NS c.904G>A p.E302K 11:32417623-32417623 9
29 COSM111536476 WT1 skin,face,malignant melanoma,NS c.904G>A p.E302K 11:32417623-32417623 9
30 COSM130507092 WT1 skin,neck,malignant melanoma,NS c.686G>A p.R229Q 11:32392031-32392031 9
31 COSM91365640 WT1 skin,face,malignant melanoma,NS c.948G>A p.K316= 11:32417579-32417579 9
32 COSM148579767 WT1 skin,face,malignant melanoma,NS c.745C>T p.P249S 11:32428521-32428521 9
33 COSM130509921 WT1 skin,face,malignant melanoma,NS c.109C>T p.P37S 11:32428521-32428521 9
34 COSM148572271 WT1 skin,face,malignant melanoma,NS c.948G>A p.K316= 11:32417579-32417579 9
35 COSM100779018 WT1 skin,face,malignant melanoma,NS c.268G>A p.E90K 11:32417623-32417623 9
36 COSM113469893 WT1 skin,face,malignant melanoma,NS c.948G>A p.K316= 11:32417579-32417579 9
37 COSM91380314 WT1 skin,face,malignant melanoma,NS c.904G>A p.E302K 11:32417623-32417623 9
38 COSM113482610 WT1 skin,face,malignant melanoma,NS c.904G>A p.E302K 11:32417623-32417623 9
39 COSM148575821 WT1 skin,face,malignant melanoma,NS c.1202G>A p.R401K 11:32396304-32396304 9
40 COSM111529117 WT1 skin,face,malignant melanoma,NS c.745C>T p.P249S 11:32428521-32428521 9
41 COSM100767604 WT1 skin,face,malignant melanoma,NS c.566G>A p.R189K 11:32396304-32396304 9
42 COSM100766847 WT1 skin,neck,malignant melanoma,NS c.737G>A p.R246Q 11:32392031-32392031 9
43 COSM147409917 WT1 skin,face,malignant melanoma,NS c.1151G>A p.R384K 11:32396304-32396304 9
44 COSM149722699 WT1 skin,face,malignant melanoma,NS c.948G>A p.K316= 11:32417579-32417579 9
45 COSM149725025 WT1 skin,face,malignant melanoma,NS c.1202G>A p.R401K 11:32396304-32396304 9
46 COSM147423548 WT1 skin,face,malignant melanoma,NS c.904G>A p.E302K 11:32417623-32417623 9
47 COSM147406975 WT1 skin,face,malignant melanoma,NS c.948G>A p.K316= 11:32417579-32417579 9
48 COSM147409319 WT1 skin,neck,malignant melanoma,NS c.1322G>A p.R441Q 11:32392031-32392031 9
49 COSM147413497 WT1 skin,face,malignant melanoma,NS c.745C>T p.P249S 11:32428521-32428521 9
50 COSM111526066 WT1 skin,face,malignant melanoma,NS c.1151G>A p.R384K 11:32396304-32396304 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 23)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.68 STK11 PRKAR1A NRAS KITLG HRAS
2
Show member pathways
12.66 NRAS MSH2 MLH1 HRAS
3
Show member pathways
12.52 NRAS KITLG HRAS EDN1
4
Show member pathways
12.2 TYR NRAS MC1R KITLG HRAS EDN1
5 11.96 PRKAR1A MSH2 MLH1
6
Show member pathways
11.89 STK11 NRAS HRAS
7
Show member pathways
11.88 PRKAR1A NRAS HRAS
8 11.83 NRAS MSH2 MLH1 KITLG HRAS EDN1
9
Show member pathways
11.81 STK11 NRAS HRAS
10 11.79 STK11 NRAS HRAS
11 11.54 NRAS HRAS EDN1
12 11.31 PRKAR1A NRAS KITLG HRAS
13 11.08 NRAS HRAS
14 11.08 NRAS HRAS
15
Show member pathways
11.07 HRAS EDN1
16 11.05 MSH2 MLH1
17 11.05 PRKAR1A MC1R KITLG
18
Show member pathways
11.04 NRAS HRAS
19 10.92 NRAS HRAS
20 10.89 NRAS HRAS
21 10.81 NRAS HRAS
22
Show member pathways
10.75 NRAS HRAS EDN1
23 10.55 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:

# Name GO ID Score Top Affiliating Genes
1 cell cycle arrest GO:0007050 9.63 STK11 MSH2 HRAS
2 isotype switching GO:0045190 9.43 MSH2 MLH1
3 positive regulation of MAP kinase activity GO:0043406 9.43 KITLG HRAS EDN1
4 somatic hypermutation of immunoglobulin genes GO:0016446 9.4 MSH2 MLH1
5 melanin biosynthetic process GO:0042438 9.37 TYR MC1R
6 positive regulation of isotype switching to IgG isotypes GO:0048304 9.32 MSH2 MLH1
7 positive regulation of isotype switching to IgA isotypes GO:0048298 9.16 MSH2 MLH1
8 somatic recombination of immunoglobulin gene segments GO:0016447 8.96 MSH2 MLH1
9 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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