MCID: NRC015
MIFTS: 25

Neurocutaneous Melanocytosis malady

Categories: Neuronal diseases, Skin diseases, Cancer diseases, Rare diseases

Aliases & Classifications for Neurocutaneous Melanocytosis

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Sources:
51Orphanet, 65UMLS, 37MESH via Orphanet, 66UMLS via Orphanet, 28ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Neurocutaneous Melanocytosis:

Name: Neurocutaneous Melanocytosis 51
Neurocutaneous Melanosis 51 65
 
Ncm 51

Characteristics:

Orphanet epidemiological data:

51
neurocutaneous melanosis:
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood; Age of death: adolescent,late childhood

Classifications:



External Ids:

Orphanet51 2481
MESH via Orphanet37 C537387
UMLS via Orphanet66 C0544862
ICD10 via Orphanet28 D22
UMLS65 C0544862

Summaries for Neurocutaneous Melanocytosis

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MalaCards based summary: Neurocutaneous Melanocytosis, also known as neurocutaneous melanosis, is related to neurocutaneous melanosis, somatic and giant congenital nevus, and has symptoms including thick skin/pachydermia/orange skin, diffuse/generalised skin hyperpigmentation/melanoderma and pigmented naevi/naevus pigmentosus/lentigo. An important gene associated with Neurocutaneous Melanocytosis is BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase). Affiliated tissues include skin, cerebellum and kidney.

Related Diseases for Neurocutaneous Melanocytosis

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Diseases related to Neurocutaneous Melanocytosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 22)
idRelated DiseaseScoreTop Affiliating Genes
1neurocutaneous melanosis, somatic12.9
2giant congenital nevus10.6
3melanocytic nevus syndrome, congenital, somatic10.6
4cervicitis10.5
5nephrotic syndrome10.5
6neuronitis10.5
7schistosomiasis10.5
8colorectal cancer10.3
9multiple myeloma10.3
10nasopharyngeal carcinoma10.3
11laryngotracheitis10.3
12myeloma10.3
13nasopharyngitis10.3
14prostatic hypertrophy10.3
15prostatitis10.3
16tracheal stenosis10.3
17cerebritis10.3
18spiradenoma10.3
19lingual-facial-buccal dyskinesia10.3
20eosinophilia-myalgia syndrome10.3
21eosinophilia10.3
22endotheliitis10.3

Graphical network of the top 20 diseases related to Neurocutaneous Melanocytosis:



Diseases related to neurocutaneous melanocytosis

Symptoms for Neurocutaneous Melanocytosis

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Symptoms:

 51 (show all 27)
  • thick skin/pachydermia/orange skin
  • diffuse/generalised skin hyperpigmentation/melanoderma
  • pigmented naevi/naevus pigmentosus/lentigo
  • hirsutism/hypertrichosis/increased body hair
  • scalp cyst/giant nevus
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • retinoschisis/retinal/chorioretinal coloboma
  • retinitis pigmentosa/retinal pigmentary changes
  • venous thrombosis/phlebitis/thrombophlebitis
  • agenesis/hypoplasia/aplasia of kidneys
  • meningocele
  • syringomelia
  • dilated cerebral ventricles without hydrocephaly
  • dandy-walker anomaly
  • arnold-chiari anomaly
  • agyria/micro/pachy/macrogyria/lissencephaly/gyration/neuronal migration defect
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • cranial nerves palsy
  • eeg anomalies
  • encephalitis
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • psychic/behavioural troubles
  • intracranial/cerebral/meningeal hemorrhage
  • neoplasms/tumors
  • melanoma
  • death in infancy

Drugs & Therapeutics for Neurocutaneous Melanocytosis

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Neurocutaneous Melanocytosis

Genetic Tests for Neurocutaneous Melanocytosis

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Anatomical Context for Neurocutaneous Melanocytosis

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MalaCards organs/tissues related to Neurocutaneous Melanocytosis:

33
Skin, Cerebellum, Kidney, Thyroid, Breast, Prostate, Testes

Animal Models for Neurocutaneous Melanocytosis or affiliated genes

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Publications for Neurocutaneous Melanocytosis

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Articles related to Neurocutaneous Melanocytosis:

(show all 25)
idTitleAuthorsYear
1
Mesenchymal expression of the FRAS1/FREM2 gene unit is decreased in the developing fetal diaphragm of nitrofen-induced congenital diaphragmatic hernia. (26519041)
2015
2
Neoadjuvant hormonal therapy in prostate cancer - impact of PSA level before radiotherapy. (24344022)
2013
3
HSP70 inhibition by 2-phenylethynesulfonamide induces lysosomal cathepsin D release and immunogenic cell death in primary effusion lymphoma. (23868063)
2013
4
The role of transesophageal echocardiography during surgery for patients with tetralogy of Fallot. (22790360)
2013
5
Chaperone-mediated autophagy targets hypoxia-inducible factor-1I+ (HIF-1I+) for lysosomal degradation. (23457305)
2013
6
Cell cycle-dependent activity of the novel dual PI3K-MTORC1/2 inhibitor NVP-BGT226 in acute leukemia. (23705826)
2013
7
Common cold. (22084460)
2011
8
Repeated and aggressive pulmonary resections for leiomyosarcoma metastases extends survival. (21867989)
2011
9
Melatonin MT1 and MT2 receptor expression in Parkinson's disease. (20110911)
2010
10
The impact of heat shock protein 70 gene variations on clinical presentation and outcome in schizophrenic inpatients. (19439993)
2009
11
Thyroid hormone regulates the expression and function of P-glycoprotein in Caco-2 cells. (18004648)
2008
12
Skin disease in HIV-positive persons living in Puerto Rico. (17473721)
2007
13
Arrested maturation of Neisseria-containing phagosomes in the absence of the lysosome-associated membrane proteins, LAMP-1 and LAMP-2. (17506821)
2007
14
Phenotypic heterogeneity in biochemical parameters correlates with mutations in AGPAT2 or Seipin genes among Berardinelli-Seip congenital lipodystrophy patients. (16435205)
2005
15
Disability-induced identity changes in persons with multiple chemical sensitivity. (15761095)
2005
16
Efficacy of valsartan in the treatment of persistent microalbuminuria in normotensive patients with type 1 diabetes]. (14608833)
2003
17
Successful endovascular therapy for acute basilar thrombosis in an adolescent. (12949321)
2003
18
Polymorphisms of angiotensin converting enzyme and angiotensin II type 1 receptors genes and the state of regional hemodynamics in borderline arterial hypertension in young men]. (12891238)
2003
19
Interleukin-1alpha promotes angiogenesis in vivo via VEGFR-2 pathway by inducing inflammatory cell VEGF synthesis and secretion. (12205052)
2002
20
Somatostatin receptor scintigraphy in the management of cerebral malignant ectomesenchymoma: a case report. (11297080)
2001
21
Hepatocyte growth factor/scatter factor blocks the mitochondrial pathway of apoptosis signaling in breast cancer cells. (11571297)
2001
22
Strokes, cutis marmorata telangiectatica congenita, and factor V Leiden. (9588532)
1998
23
Molecular definition of a novel human galectin which is immunogenic in patients with Hodgkin's disease. (9045665)
1997
24
Lethal Pallister-Killian syndrome: phenotypic similarity with Fryns syndrome. (7856644)
1994
25
Germline RET mutations in MEN 2A and FMTC and their detection by simple DNA diagnostic tests. (7915165)
1994

Variations for Neurocutaneous Melanocytosis

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Expression for genes affiliated with Neurocutaneous Melanocytosis

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Search GEO for disease gene expression data for Neurocutaneous Melanocytosis.

Pathways for genes affiliated with Neurocutaneous Melanocytosis

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GO Terms for genes affiliated with Neurocutaneous Melanocytosis

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Sources for Neurocutaneous Melanocytosis

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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