MCID: GNT020
MIFTS: 39

Giant Congenital Nevus

Categories: Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Giant Congenital Nevus

MalaCards integrated aliases for Giant Congenital Nevus:

Name: Giant Congenital Nevus 54
Giant Pigmented Hairy Nevus 54 26 74
Giant Congenital Melanocytic Nevus 54 26
Congenital Giant Melanocytic Nevus 30 6
Gphn 54 26
Congenital Giant Pigmented Nevus of Skin 26
Congenital Melanocytic Nevus Syndrome 26
Large Congenital Melanocytic Nevus 54
Giant Congenital Melanocytic Nevi 26
Giant Congenital Pigmented Nevus 26
Congenital Giant Pigmented Nevus 54
Congenital Hairy Nevus 54
Giant Pigmented Nevus 54
Bathing Trunk Nevus 54
Giant Hairy Nevus 54
Gmn 26

Classifications:



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UMLS 74 C1842036

Summaries for Giant Congenital Nevus

NIH Rare Diseases : 54 A giant congenital nevus is a dark-colored, often hairy patch of skin that is present at birth (congenital). It grows proportionally to the child. A congenital pigmented nevus is considered giant if by adulthood it is larger than 20cm (about 8 inches) in diameter. Giant congenital nevi can occur in people of any racial or ethnic background and on any area of the body. They result from localized genetic changes in the fetus that lead to excessive growth of melanocytes, the cells in the skin that are responsible for skin color. People with giant congenital nevi may have no other symptoms or may have several symptoms such as fragile, dry, or itchy skin. In about 5% to 10% of the cases the giant congenital nevus is associated with neurocutaneous melanocytosis (excess pigment cells in the brain or spinal cord) and is characterized by neurological symptoms. They also have an increased risk of developing malignant melanoma, a type of skin cancer, especially if the nevus is localized in the vertebral column or when there are multiple associated lesions (satellites). Whenever possible, treatment includes surgery to remove the nevus. In other cases other treatment such as dermabrasion, shaving or facial excision, chemical peels and laser can be done. In most cases, when there are no neurological problems, the prognosis is good, but it is necessary for the lesions to be examined regularly.

MalaCards based summary : Giant Congenital Nevus, also known as giant pigmented hairy nevus, is related to melanocytic nevus syndrome, congenital and nevus, epidermal. An important gene associated with Giant Congenital Nevus is NRAS (NRAS Proto-Oncogene, GTPase), and among its related pathways/superpathways are Regulation of actin cytoskeleton and ErbB signaling pathway. The drugs Lidocaine and Calamus have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and spinal cord, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Related Diseases for Giant Congenital Nevus

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

(show top 50) (show all 111)
# Related Disease Score Top Affiliating Genes
1 melanocytic nevus syndrome, congenital 33.3 HRAS NRAS
2 nevus, epidermal 32.1 HRAS NRAS
3 molybdenum cofactor deficiency, complementation group c 12.1
4 molybdenum cofactor deficiency 11.7
5 hyperekplexia 11.7
6 autism 11.5
7 stiff-person syndrome 11.3
8 molybdenum cofactor deficiency, complementation group a 11.1
9 spastic paraplegia 24, autosomal recessive 11.1
10 leber congenital amaurosis 13 11.1
11 retinal dystrophy, juvenile cataracts, and short stature syndrome 11.1
12 glycosylphosphatidylinositol biosynthesis defect 17 11.1
13 autism spectrum disorder 11.1
14 mediastinal cancer 11.1
15 geniculate herpes zoster 11.1
16 acute monoblastic leukemia 11.1
17 retinitis pigmentosa 11.0
18 leber congenital amaurosis 11.0
19 melanoma in congenital melanocytic nevus 10.9
20 melanosis, neurocutaneous 10.3
21 rhabdomyosarcoma 10.3
22 melanoma 10.3
23 hypophosphatemic rickets, x-linked recessive 10.2
24 rickets 10.2
25 congenital fiber-type disproportion 10.1
26 lipomatosis, multiple 10.1
27 myelomeningocele 10.1
28 pleomorphic lipoma 10.1
29 lipomatosis 10.1
30 mastocytosis 10.1
31 schizophrenia 10.1
32 leukemia 10.1
33 neurofibromatosis, type iv, of riccardi 10.0
34 neural tube defects 10.0
35 papilloma of choroid plexus 10.0
36 rhabdomyosarcoma 2 10.0
37 vitiligo-associated multiple autoimmune disease susceptibility 1 10.0
38 keloids 10.0
39 spina bifida occulta 10.0
40 squamous cell papilloma 10.0
41 papilloma 10.0
42 astrocytoma 10.0
43 cerebellar astrocytoma 10.0
44 aplasia cutis congenita 10.0
45 cutis verticis gyrata 10.0
46 encephalocele 10.0
47 hemimegalencephaly 10.0
48 tièche-jadassohn nevus 10.0
49 occipital encephalocele 10.0
50 scalp syndrome 10.0

Graphical network of the top 20 diseases related to Giant Congenital Nevus:



Diseases related to Giant Congenital Nevus

Symptoms & Phenotypes for Giant Congenital Nevus

GenomeRNAi Phenotypes related to Giant Congenital Nevus according to GeneCards Suite gene sharing:

27 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.56 NRAS
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.56 NRAS
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-28 9.56 HRAS NRAS
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 9.56 HRAS
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.56 NRAS
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-87 9.56 HRAS
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-95 9.56 HRAS
8 Decreased viability GR00055-A-2 9.23 HRAS
9 Decreased viability GR00221-A-1 9.23 HRAS NRAS
10 Decreased viability GR00221-A-2 9.23 HRAS
11 Decreased viability GR00221-A-3 9.23 HRAS NRAS
12 Decreased viability GR00402-S-2 9.23 HRAS NRAS

Drugs & Therapeutics for Giant Congenital Nevus

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lidocaine Approved, Vet_approved Phase 2, Phase 3 137-58-6 3676
2 Calamus Phase 2, Phase 3
3 Anesthetics Phase 2, Phase 3
4 Sunscreening Agents Phase 2, Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Efficacy and Safety of a Nanofat-seeded Biological Scaffold in Healing Lower Limb Surgical Defects Recruiting NCT03548610 Phase 2, Phase 3
2 Natural History Study of Moles and Suspicious Melanoma Completed NCT00288938

Search NIH Clinical Center for Giant Congenital Nevus

Genetic Tests for Giant Congenital Nevus

Genetic tests related to Giant Congenital Nevus:

# Genetic test Affiliating Genes
1 Congenital Giant Melanocytic Nevus 30 HRAS NRAS

Anatomical Context for Giant Congenital Nevus

MalaCards organs/tissues related to Giant Congenital Nevus:

42
Skin, Brain, Spinal Cord, Thyroid, Myeloid, Liver, Heart

Publications for Giant Congenital Nevus

Articles related to Giant Congenital Nevus:

(show all 36)
# Title Authors Year
1
Proliferating Neurocristic Hamartoma Arising in a Giant Congenital Nevus: Comparative Genomic Hybridization Findings. ( 30461421 )
2019
2
Malignant melanoma with areas of rhabdomyosarcomatous differentiation arising in a giant congenital nevus with RAF1 gene fusion. ( 30945443 )
2019
3
A neurofibroma-like tumor in a giant congenital nevus. ( 30277018 )
2018
4
Malignant Melanoma in Association With a Thymic Nevus in a Patient With a Giant Congenital Nevus. ( 28033154 )
2017
5
Treating Giant Congenital Nevus With Integra Dermal Regeneration Template in a 9-Year-Old Girl. ( 28682723 )
2017
6
Giant congenital nevus associated with papillary thyroid cancer: the first case report. ( 23968452 )
2014
7
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). ( 25173338 )
2014
8
Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia. ( 24006476 )
2014
9
A rare association of congenital lumbar hernia and giant congenital nevus. ( 22648191 )
2013
10
Impressive pseudotumoral proliferative nodules in a giant congenital nevus of a newborn. ( 22958141 )
2013
11
Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS. ( 23392294 )
2013
12
Giant congenital nevus with plexiform neurofibroma and malignant peripheral nerve sheath tumor. ( 22413842 )
2012
13
Keratinocytic epidermal nevi are associated with mosaic RAS mutations. ( 22499344 )
2012
14
Wells on natural selection: right for the wrong reason--described a giant congenital nevus. ( 22256630 )
2011
15
Images in clinical medicine. Giant congenital nevus. ( 19726769 )
2009
16
Genotypic and gene expression studies in congenital melanocytic nevi: insight into initial steps of melanotumorigenesis. ( 18633438 )
2009
17
Treatment of giant congenital nevus of the back by convergent serial excision. ( 18837711 )
2008
18
Desmoplastic giant congenital nevus with progressive depigmentation. ( 17097364 )
2007
19
A giant congenital nevus spilus in an 8-year-old girl. ( 17142204 )
2006
20
Cutaneous ganglioneuroma within a giant congenital nevus. ( 24223002 )
2005
21
RAS point mutations and PAX8-PPAR gamma rearrangement in thyroid tumors: evidence for distinct molecular pathways in thyroid follicular carcinoma. ( 12727991 )
2003
22
Giant congenital nevus with progressive sclerodermoid reaction in a newborn. ( 11576407 )
2001
23
A newborn with nodular ulcerated lesion on a giant congenital nevus. ( 10990581 )
2000
24
Poliosis associated with a giant congenital nevus. ( 10411174 )
1999
25
Giant congenital nevus. ( 10829894 )
1995
26
Very late metastasis (27 years) of cutaneous malignant melanoma arising in a halo giant congenital nevus. ( 8075446 )
1994
27
Chromosomal findings in cultured melanocytes from a giant congenital nevus. ( 8330286 )
1993
28
Giant congenital nevus and chronic progressive ascending hemiparesis (Mills syndrome). Report of a case. ( 1624284 )
1992
29
Giant congenital nevus and malignant melanoma. ( 2715664 )
1989
30
Amino-acid substitution at codon 13 of the N-ras oncogene in rectal cancer in a Japanese patient. ( 3102434 )
1987
31
Giant congenital nevus and melanoma. ( 3716969 )
1986
32
"Giant pigmented hairy nevus in von-Recklinghausen's disease". ( 3108231 )
1986
33
Giant congenital nevus as a basis for the development of malignant melanoma. ( 4036470 )
1985
34
Inheritance of giant pigmented hairy nevus of the scalp. ( 7258230 )
1981
35
Giant pigmented hairy nevus in two siblings. ( 4426633 )
1974
36
Giant pigmented hairy nevus. ( 5975780 )
1966

Variations for Giant Congenital Nevus

ClinVar genetic disease variations for Giant Congenital Nevus:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 HRAS NM_005343.2(HRAS): c.35G> C (p.Gly12Ala) single nucleotide variant Pathogenic rs104894230 GRCh37 Chromosome 11, 534288: 534288
2 HRAS NM_005343.2(HRAS): c.35G> C (p.Gly12Ala) single nucleotide variant Pathogenic rs104894230 GRCh38 Chromosome 11, 534288: 534288
3 HRAS NM_005343.4(HRAS): c.37G> T (p.Gly13Cys) single nucleotide variant Pathogenic rs104894228 GRCh37 Chromosome 11, 534286: 534286
4 HRAS NM_005343.4(HRAS): c.37G> T (p.Gly13Cys) single nucleotide variant Pathogenic rs104894228 GRCh38 Chromosome 11, 534286: 534286
5 HRAS NM_005343.2(HRAS): c.34G> T (p.Gly12Cys) single nucleotide variant Pathogenic rs104894229 GRCh37 Chromosome 11, 534289: 534289
6 HRAS NM_005343.2(HRAS): c.34G> T (p.Gly12Cys) single nucleotide variant Pathogenic rs104894229 GRCh38 Chromosome 11, 534289: 534289
7 NRAS NM_002524.4(NRAS): c.37G> C (p.Gly13Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121434595 GRCh37 Chromosome 1, 115258745: 115258745
8 NRAS NM_002524.4(NRAS): c.37G> C (p.Gly13Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121434595 GRCh38 Chromosome 1, 114716124: 114716124
9 NRAS NM_002524.3(NRAS): c.182A> G (p.Gln61Arg) single nucleotide variant Pathogenic rs11554290 GRCh37 Chromosome 1, 115256529: 115256529
10 NRAS NM_002524.3(NRAS): c.182A> G (p.Gln61Arg) single nucleotide variant Pathogenic rs11554290 GRCh38 Chromosome 1, 114713908: 114713908
11 HRAS NM_005343.4(HRAS): c.520C> T (p.Pro174Ser) single nucleotide variant Benign rs397517144 GRCh37 Chromosome 11, 532686: 532686
12 HRAS NM_005343.4(HRAS): c.520C> T (p.Pro174Ser) single nucleotide variant Benign rs397517144 GRCh38 Chromosome 11, 532686: 532686
13 NRAS NM_002524.4(NRAS): c.181C> A (p.Gln61Lys) single nucleotide variant Uncertain significance rs121913254 GRCh37 Chromosome 1, 115256530: 115256530
14 NRAS NM_002524.4(NRAS): c.181C> A (p.Gln61Lys) single nucleotide variant Uncertain significance rs121913254 GRCh38 Chromosome 1, 114713909: 114713909
15 NRAS NM_002524.4(NRAS): c.181C> A (p.Gln61Lys) single nucleotide variant Uncertain significance rs121913254 NCBI36 Chromosome 1, 115058053: 115058053
16 46;X;inv(X)(q26q28)dn inversion Uncertain significance

Expression for Giant Congenital Nevus

Search GEO for disease gene expression data for Giant Congenital Nevus.

Pathways for Giant Congenital Nevus

Pathways related to Giant Congenital Nevus according to GeneCards Suite gene sharing:

(show top 50) (show all 88)
# Super pathways Score Top Affiliating Genes
1 12.33 HRAS NRAS
2
Show member pathways
12.31 HRAS NRAS
3
Show member pathways
12.3 HRAS NRAS
4
Show member pathways
12.29 HRAS NRAS
5
Show member pathways
12.28 HRAS NRAS
6
Show member pathways
12.25 HRAS NRAS
7
Show member pathways
12.23 HRAS NRAS
8 12.23 HRAS NRAS
9
Show member pathways
12.22 HRAS NRAS
10
Show member pathways
12.2 HRAS NRAS
11
Show member pathways
12.19 HRAS NRAS
12
Show member pathways
12.17 HRAS NRAS
13
Show member pathways
12.16 HRAS NRAS
14
Show member pathways
12.15 HRAS NRAS
15
Show member pathways
12.15 HRAS NRAS
16
Show member pathways
12.14 HRAS NRAS
17
Show member pathways
12.13 HRAS NRAS
18
Show member pathways
12.13 HRAS NRAS
19
Show member pathways
12.12 HRAS NRAS
20
Show member pathways
12.11 HRAS NRAS
21 12.08 HRAS NRAS
22
Show member pathways
12.07 HRAS NRAS
23
Show member pathways
12.06 HRAS NRAS
24
Show member pathways
12.05 HRAS NRAS
25
Show member pathways
12.03 HRAS NRAS
26 12.03 HRAS NRAS
27 12.02 HRAS NRAS
28
Show member pathways
12.01 HRAS NRAS
29
Show member pathways
11.99 HRAS NRAS
30
Show member pathways
11.97 HRAS NRAS
31 11.97 HRAS NRAS
32
Show member pathways
11.96 HRAS NRAS
33
Show member pathways
11.95 HRAS NRAS
34
Show member pathways
11.93 HRAS NRAS
35
Show member pathways
11.93 HRAS NRAS
36
Show member pathways
11.92 HRAS NRAS
37 11.9 HRAS NRAS
38
Show member pathways
11.9 HRAS NRAS
39
Show member pathways
11.9 HRAS NRAS
40 11.87 HRAS NRAS
41
Show member pathways
11.87 HRAS NRAS
42
Show member pathways
11.87 HRAS NRAS
43
Show member pathways
11.87 HRAS NRAS
44 11.82 HRAS NRAS
45
Show member pathways
11.82 HRAS NRAS
46 11.81 HRAS NRAS
47
Show member pathways
11.81 HRAS NRAS
48
Show member pathways
11.78 HRAS NRAS
49
Show member pathways
11.78 HRAS NRAS
50
Show member pathways
11.78 HRAS NRAS

GO Terms for Giant Congenital Nevus

Biological processes related to Giant Congenital Nevus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.16 HRAS NRAS
2 Ras protein signal transduction GO:0007265 8.96 HRAS NRAS
3 stimulatory C-type lectin receptor signaling pathway GO:0002223 8.62 HRAS NRAS

Molecular functions related to Giant Congenital Nevus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 GTPase activity GO:0003924 8.62 HRAS NRAS

Sources for Giant Congenital Nevus

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