MCID: GNT020
MIFTS: 35

Giant Congenital Nevus malady

Rare diseases, Skin diseases, Cancer diseases categories

Aliases & Classifications for Giant Congenital Nevus

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Sources:
45NIH Rare Diseases, 23Genetics Home Reference, 51Orphanet, 65UMLS, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for Giant Congenital Nevus:

Name: Giant Congenital Nevus 45
Giant Pigmented Hairy Nevus 45 23 51 65
Giant Congenital Melanocytic Nevus 45 23 51
Large Congenital Melanocytic Nevus 45 51
Giant Pigmented Nevus 45 65
Gphn 45 23
Gmn 23 51
Congenital Giant Pigmented Nevus of Skin 23
Congenital Melanocytic Nevus Syndrome 23
 
Giant Congenital Melanocytic Nevi 23
Congenital Giant Pigmented Nevus 45
Giant Congenital Pigmented Nevus 23
Congenital Melanocytic Nevus 65
Congenital Pigmented Nevus 51
Congenital Hairy Nevus 45
Bathing Trunk Nevus 45
Giant Hairy Nevus 45
Lcmn 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
giant pigmented hairy nevus:
Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy


External Ids:

Orphanet51 626
ICD10 via Orphanet28 D22
UMLS via Orphanet66 C1318558, C1842036

Summaries for Giant Congenital Nevus

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Genetics Home Reference:23 Giant congenital melanocytic nevus is a skin condition characterized by an abnormally dark, noncancerous skin patch (nevus) that is composed of pigment-producing cells called melanocytes. It is present from birth (congenital) or is noticeable soon after birth. The nevus may be small in infants, but it will usually grow at the same rate the body grows and will eventually be at least 40 cm (15.75 inches) across. The nevus can appear anywhere on the body, but it is more often found on the trunk or limbs. The color ranges from tan to black and can become darker or lighter over time. The surface of a nevus can be flat, rough, raised, thickened, or bumpy; the surface can vary in different regions of the nevus, and it can change over time. The skin of the nevus is often dry and prone to irritation and itching (dermatitis). Excessive hair growth (hypertrichosis) can occur within the nevus. There is often less fat tissue under the skin of the nevus; the skin may appear thinner there than over other areas of the body.

MalaCards based summary: Giant Congenital Nevus, also known as giant pigmented hairy nevus, is related to melanoma and hypophosphatemic rickets, and has symptoms including abnormal pigmentary skin changes/skin pigmentation anomalies, capillary hemangioma/nevus/naevus flammeus/port-wine stain and scalp cyst/giant nevus. An important gene associated with Giant Congenital Nevus is NRAS (Neuroblastoma RAS Viral (V-Ras) Oncogene Homolog), and among its related pathways is Basal cell carcinoma. Affiliated tissues include skin, spinal cord and brain, and related mouse phenotypes are no phenotypic analysis and tumorigenesis.

NIH Rare Diseases:45 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 experience a number of complications ranging from fragile, dry, or itchy skin to neurological problems like neurocutaneous melanocytosis (excess pigment cells in the brain or spinal cord). they also have an increased risk of developing malignant melanoma, a type of skin cancer. last updated: 5/7/2015

Wikipedia:68 The congenital melanocytic nevus is a type of melanocytic nevus (or mole) found in infants at birth.... more...

Related Diseases for Giant Congenital Nevus

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

(show all 49)
idRelated DiseaseScoreTop Affiliating Genes
1melanoma10.5
2hypophosphatemic rickets10.4
3rickets10.4
4epidermal nevus, somatic10.4
5melanocytic nevus syndrome, congenital, somatic10.4
6congenital fiber-type disproportion10.4
7neurocutaneous melanocytosis10.4
8molybdenum cofactor deficiency c10.4
9encephalopathy due to sulfite oxidase deficiency10.4
10choroid plexus papilloma10.3
11choroiditis10.3
12papilloma10.3
13rhabdomyosarcoma10.3
14aplasia cutis congenita10.3
15cutis verticis gyrata10.3
16spina bifida occulta10.3
17scalp syndrome10.3
18lipoma10.3
19lipomatosis10.3
20arachnoiditis10.3
21arachnoid cysts10.3
22hyperekplexia10.3
23gphn-related hyperekplexia10.3
24arteriovenous malformation10.3
25hypercalcemia10.3
26angiolipoma10.3
27intracranial arteriovenous malformation10.3
28choristoma10.3
29neurocutaneous melanosis, somatic10.3
30hyperekplexia, hereditary 1, autosomal dominant or recessive10.2
31molybdenum cofactor deficiency10.2
32congenital smooth muscle hamartoma10.2
33cutaneous ganglioneuroma10.2
34ganglioneuroma10.2
35plexiform neurofibroma10.2
36malignant peripheral nerve sheath tumor10.2
37neurofibroma10.2
38thyroid cancer10.2
39thyroiditis10.2
40mills syndrome10.2
41schizophrenia10.0
42rheumatoid arthritis10.0
43molybdenum cofactor deficiency a10.0
44leukemia10.0
45neuronitis10.0
46giant ganglionic hyperplasia9.8MC1R, NRAS
47melanotic neurilemmoma9.8MC1R, NRAS
48uveitis9.8MC1R, NRAS
49cellulitis9.7MC1R, NRAS

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



Diseases related to giant congenital nevus

Symptoms for Giant Congenital Nevus

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Symptoms:

 51 (show all 14)
  • abnormal pigmentary skin changes/skin pigmentation anomalies
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain
  • scalp cyst/giant nevus
  • hirsutism/hypertrichosis/increased body hair
  • neoplasms/tumors
  • pruritus/itching
  • irregular/patchy skin hypopigmentation
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • hydrocephaly
  • seizures/epilepsy/absences/spasms/status epilepticus
  • melanoma
  • skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma)
  • sarcoma
  • soft tissue sarcoma/cancer/tumor/liposarcoma/myosarcoma

Drugs & Therapeutics for Giant Congenital Nevus

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Autologous Engineered Skin Substitutes for Closure of Skin WoundsTerminatedNCT00591513Phase 2, Phase 3
2Phase I Study for Autologous Dermal Substitutes and Dermo-epidermal Skin Substitutes for Treatment of Skin DefectsRecruitingNCT02145130Phase 1
3Natural History Study of Moles and Suspicious MelanomaCompletedNCT00288938

Search NIH Clinical Center for Giant Congenital Nevus

Genetic Tests for Giant Congenital Nevus

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Anatomical Context for Giant Congenital Nevus

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MalaCards organs/tissues related to Giant Congenital Nevus:

33
Skin, Spinal cord, Brain, Thyroid

Animal Models for Giant Congenital Nevus or affiliated genes

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MGI Mouse Phenotypes related to Giant Congenital Nevus:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030129.1MC1R, NRAS
2MP:00020069.1MC1R, NRAS
3MP:00053718.8MC1R, NRAS

Publications for Giant Congenital Nevus

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Articles related to Giant Congenital Nevus:

(show all 20)
idTitleAuthorsYear
1
Giant congenital nevus associated with papillary thyroid cancer: the first case report. (23968452)
2013
2
Impressive pseudotumoral proliferative nodules in a giant congenital nevus of a newborn. (22958141)
2013
3
A rare association of congenital lumbar hernia and giant congenital nevus. (22648191)
2013
4
Giant congenital nevus with plexiform neurofibroma and malignant peripheral nerve sheath tumor. (22413842)
2012
5
Wells on natural selection: right for the wrong reason--described a giant congenital nevus. (22256630)
2011
6
Images in clinical medicine. Giant congenital nevus. (19726769)
2009
7
Treatment of giant congenital nevus of the back by convergent serial excision. (18837711)
2008
8
Desmoplastic giant congenital nevus with progressive depigmentation. (17097364)
2007
9
A giant congenital nevus spilus in an 8-year-old girl. (17142204)
2006
10
Cutaneous ganglioneuroma within a giant congenital nevus. (24223002)
2005
11
Giant congenital nevus with progressive sclerodermoid reaction in a newborn. (11576407)
2001
12
A newborn with nodular ulcerated lesion on a giant congenital nevus. (10990581)
2000
13
Poliosis associated with a giant congenital nevus. (10411174)
1999
14
Giant congenital nevus. (10829894)
1995
15
Very late metastasis (27 years) of cutaneous malignant melanoma arising in a halo giant congenital nevus. (8075446)
1994
16
Chromosomal findings in cultured melanocytes from a giant congenital nevus. (8330286)
1993
17
Giant congenital nevus and chronic progressive ascending hemiparesis (Mills syndrome). Report of a case. (1624284)
1992
18
Giant congenital nevus and malignant melanoma. (2715664)
1989
19
Giant congenital nevus and melanoma. (3716969)
1986
20
Giant congenital nevus as a basis for the development of malignant melanoma. (4036470)
1985

Variations for Giant Congenital Nevus

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Clinvar genetic disease variations for Giant Congenital Nevus:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NRASNM_002524.4(NRAS): c.37G> C (p.Gly13Arg)single nucleotide variantPathogenicrs121434595GRCh37Chr 1, 115258745: 115258745
2NRASNM_002524.4(NRAS): c.182A> G (p.Gln61Arg)single nucleotide variantPathogenicrs11554290GRCh37Chr 1, 115256529: 115256529
3NRASNM_002524.4(NRAS): c.181C> A (p.Gln61Lys)single nucleotide variantPathogenicrs121913254GRCh37Chr 1, 115256530: 115256530

Cosmic variations for Giant Congenital Nevus:

7 (show top 50)    (show all 285)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
11167936BRAFskin,neck,malignant melanoma,NS3
2471BRAFskin,neck,malignant melanoma,NS3
3475BRAFskin,trunk,malignant melanoma,NS3
4478BRAFskin,trunk,malignant melanoma,NS3
51131BRAFskin,trunk,malignant melanoma,NS3
61167890BRAFskin,trunk,malignant melanoma,NS3
7476BRAFskin,neck,malignant melanoma,NS3
8564NRASskin,neck,malignant melanoma,NS3
946511NRASskin,trunk,malignant melanoma,NS3
1028049NRASskin,trunk,malignant melanoma,NS3
11222543NRASskin,trunk,malignant melanoma,NS3
12569NRASskin,neck,malignant melanoma,NS3
1328048NRASskin,trunk,malignant melanoma,NS3
14580NRASskin,neck,malignant melanoma,NS3
1544216TP53skin,trunk,malignant melanoma,NS3
1644057TP53skin,trunk,malignant melanoma,NS3
1745544TP53skin,neck,malignant melanoma,NS3
181167962TP53skin,neck,malignant melanoma,NS3
1944630TP53skin,neck,malignant melanoma,NS3
2045413TP53skin,trunk,malignant melanoma,NS3
21223023APCskin,trunk,malignant melanoma,NS3
22223024APCskin,trunk,malignant melanoma,NS3
23223025APCskin,trunk,malignant melanoma,NS3
2419010APCskin,neck,malignant melanoma,NS3
251167972NF1skin,trunk,malignant melanoma,NS3
261167999NF1skin,neck,malignant melanoma,NS3
271167889NF1skin,trunk,malignant melanoma,NS3
28222593BRINP2skin,trunk,malignant melanoma,NS3
29224819BRINP2skin,trunk,malignant melanoma,NS3
30108692BRINP2skin,neck,malignant melanoma,NS3
311691930ERBB4skin,neck,malignant melanoma,NS3
32226516ERBB4skin,trunk,malignant melanoma,NS3
33229461ERBB4skin,trunk,malignant melanoma,NS3
34223406ANK3skin,trunk,malignant melanoma,NS3
351702518ANK3skin,neck,malignant melanoma,NS3
36109251ANK3skin,neck,malignant melanoma,NS3
37229296KDM6Bskin,trunk,malignant melanoma,NS3
38229580KDM6Bskin,trunk,malignant melanoma,NS3
39223202CTTNBP2skin,trunk,malignant melanoma,NS3
40229071CTTNBP2skin,trunk,malignant melanoma,NS3
41223590GIT2skin,trunk,malignant melanoma,NS3
42223591GIT2skin,trunk,malignant melanoma,NS3
43222528PTCH2skin,trunk,malignant melanoma,NS3
441687606PTCH2skin,neck,malignant melanoma,NS3
45224827KIAA1804skin,trunk,malignant melanoma,NS3
46229440KIAA1804skin,trunk,malignant melanoma,NS3
47223681PRKD1skin,trunk,malignant melanoma,NS3
48223679PRKD1skin,trunk,malignant melanoma,NS3
49228929EPHA6skin,trunk,malignant melanoma,NS3
50145371EPHA6skin,trunk,malignant melanoma,NS3

Expression for genes affiliated with Giant Congenital Nevus

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

Pathways for genes affiliated with Giant Congenital Nevus

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1MC1R, NRAS

GO Terms for genes affiliated with Giant Congenital Nevus

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Sources for Giant Congenital Nevus

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet