MCID: GNT020
MIFTS: 33

Giant Congenital Nevus malady

Categories: Rare diseases, Skin diseases, Cancer diseases

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

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

Classifications:



External Ids:

Orphanet51 626
ICD10 via Orphanet28 D22
UMLS via Orphanet66 C1318558, C1842036
UMLS65 C1842036, C1318558

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 gphn-related hyperekplexia and melanocytic nevus syndrome, congenital, somatic, 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 Oncogene Homolog), and among its related pathways is Basal cell carcinoma. Affiliated tissues include skin, brain and spinal cord, and related mouse phenotypes are tumorigenesis and pigmentation.

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

Related Diseases for Giant Congenital Nevus

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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
4Molecular Analysis of Childhood and Adolescent Melanocytic LesionsRecruitingNCT02775643

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, Brain, Spinal cord, Kidney

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:00020069.2MC1R, NRAS
2MP:00011869.1MC1R, NRAS
3MP:00053829.1MC1R, NRAS
4MP:00053719.0MC1R, NRAS

Publications for Giant Congenital Nevus

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Articles related to Giant Congenital Nevus:

(show all 20)
idTitleAuthorsYear
1
Expedient total synthesis of small to medium-sized membrane proteins via Fmoc chemistry. (24559202)
2014
2
Targeting aldehyde dehydrogenase 2: new therapeutic opportunities. (24382882)
2014
3
Unchanged distribution density of anionic sites on the glomerular wall in rats with active heymann nephritis. (23723563)
2013
4
Q fever in pregnant goats: humoral and cellular immune responses. (23915213)
2013
5
Spontaneous normalization of anti-tissue transglutaminase antibody levels is common in children with type 1 diabetes mellitus. (22173747)
2012
6
Heme iron nitrosyl complex of MauG reveals an efficient redox equilibrium between hemes with only one heme exclusively binding exogenous ligands. (19911786)
2009
7
Ischemic bilateral hippocampal dysfunction during transient global amnesia. (18474853)
2008
8
MUC1 expression is increased during human placental development and suppresses trophoblast-like cell invasion in vitro. (18417712)
2008
9
Biphasic effect of TIMP-2 on the growth of leukemic SHI-1 cells in nude mice]. (19031737)
2008
10
Myeloperoxidase binds to non-vital spermatozoa on phosphatidylserine epitopes. (17701359)
2007
11
Orchestration of chromatin-based processes: mind the TRRAP. (17694078)
2007
12
Alternative promoters regulate transcription of the gene that encodes stem cell surface protein AC133. (14630820)
2004
13
A proteasomal ATPase subunit recognizes the polyubiquitin degradation signal. (11961560)
2002
14
Pathophysiological roles of PTH, PTHrP, and CGRP in hypertension]. (11026315)
2000
15
Chylothorax and chylous ascites due to malignant lymphoma. (7725834)
1995
16
Interleukin-1 alpha as a factor in occlusive vascular disease. (1728868)
1992
17
Classification and staging of lymphoma by molecular genetics. (1540901)
1992
18
Successful treatment of systemic blastomycosis with high-dose ketoconazole in a renal transplant recipient. (2368699)
1990
19
Variable expression of autosomal recessive polycystic kidney disease and congenital hepatic fibrosis within a family. (3377007)
1988
20
Platelet adhesiveness and aggregation in combined factor V and factor VIII deficiency and in combined factor VII and factor VIII deficiency. (75135)
1977

Variations for Giant Congenital Nevus

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Cosmic variations for Giant Congenital Nevus:

7 (show top 50)    (show all 223)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
1COSM476BRAFskin,trunk,malignant melanoma,NS3
2COSM476BRAFskin,trunk,malignant melanoma,NS3
3COSM476BRAFskin,trunk,malignant melanoma,NS3
4COSM476BRAFskin,trunk,malignant melanoma,NS3
5COSM476BRAFskin,trunk,malignant melanoma,NS3
6COSM476BRAFskin,trunk,malignant melanoma,NS3
7COSM476BRAFskin,trunk,malignant melanoma,NS3
8COSM476BRAFskin,trunk,malignant melanoma,NS3
9COSM476BRAFskin,trunk,malignant melanoma,NS3
10COSM476BRAFskin,trunk,malignant melanoma,NS3
11COSM476BRAFskin,trunk,malignant melanoma,NS3
12COSM476BRAFskin,trunk,malignant melanoma,NS3
13COSM476BRAFskin,trunk,malignant melanoma,NS3
14COSM476BRAFskin,trunk,malignant melanoma,NS3
15COSM476BRAFskin,trunk,malignant melanoma,NS3
16COSM476BRAFskin,trunk,malignant melanoma,NS3
17COSM476BRAFskin,trunk,malignant melanoma,NS3
18COSM476BRAFskin,trunk,malignant melanoma,NS3
19COSM476BRAFskin,trunk,malignant melanoma,NS3
20COSM476BRAFskin,trunk,malignant melanoma,NS3
21COSM476BRAFskin,trunk,malignant melanoma,NS3
22COSM476BRAFskin,trunk,malignant melanoma,NS3
23COSM476BRAFskin,trunk,malignant melanoma,NS3
24COSM476BRAFskin,trunk,malignant melanoma,NS3
25COSM476BRAFskin,trunk,malignant melanoma,NS3
26COSM476BRAFskin,trunk,malignant melanoma,NS3
27COSM476BRAFskin,trunk,malignant melanoma,NS3
28COSM476BRAFskin,trunk,malignant melanoma,NS3
29COSM476BRAFskin,trunk,malignant melanoma,NS3
30COSM476BRAFskin,trunk,malignant melanoma,NS3
31COSM476BRAFskin,trunk,malignant melanoma,NS3
32COSM476BRAFskin,trunk,malignant melanoma,NS3
33COSM476BRAFskin,trunk,malignant melanoma,NS3
34COSM476BRAFskin,trunk,malignant melanoma,NS3
35COSM476BRAFskin,trunk,malignant melanoma,NS3
36COSM476BRAFskin,trunk,malignant melanoma,NS3
37COSM476BRAFskin,trunk,malignant melanoma,NS3
38COSM476BRAFskin,trunk,malignant melanoma,NS3
39COSM476BRAFskin,trunk,malignant melanoma,NS3
40COSM476BRAFskin,trunk,malignant melanoma,NS3
41COSM476BRAFskin,trunk,malignant melanoma,NS3
42COSM476BRAFskin,trunk,malignant melanoma,NS3
43COSM476BRAFskin,trunk,malignant melanoma,NS3
44COSM476BRAFskin,trunk,malignant melanoma,NS3
45COSM476BRAFskin,trunk,malignant melanoma,NS3
46COSM476BRAFskin,trunk,malignant melanoma,NS3
47COSM476BRAFskin,trunk,malignant melanoma,NS3
48COSM476BRAFskin,trunk,malignant melanoma,NS3
49COSM476BRAFskin,trunk,malignant melanoma,NS3
50COSM476BRAFskin,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 pathwaysScoreTop 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