MCID: NRC019
MIFTS: 29

Neurocutaneous Melanosis, Somatic malady

Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases, Cancer diseases categories

Aliases & Classifications for Neurocutaneous Melanosis, Somatic

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Sources:
45OMIM, 41NIH Rare Diseases, 47Orphanet, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Neurocutaneous Melanosis, Somatic, Aliases & Descriptions:

Name: Neurocutaneous Melanosis, Somatic 45
Neurocutaneous Melanosis 41 47 60
Neurocutaneous Melanocytosis 41 47
 
Melanosis, Neurocutaneous 45 41
Ncm 41 47
Neurocutaneous Melanosis Syndrome 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
neurocutaneous melanosis:
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood; Age of death: adolescent,late childhood


External Ids:

OMIM45 249400
Orphanet47 2481
MESH via Orphanet34 C537387
ICD10 via Orphanet26 D22
UMLS via Orphanet61 C0544862

Summaries for Neurocutaneous Melanosis, Somatic

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NIH Rare Diseases:41 Neurocutaneous melanosis (ncm) is a rare, non-inherited condition of the central nervous system. it is characterized by melanocytic nevi in both the skin and the brain. two-thirds of people with ncm have giant congenital melanocytic nevi, and the remaining one-third have numerous lesions but no giant lesions. most patients present with neurological features early in life, which can be secondary to intracranial hemorrhages (bleeding in the brain), impairment of cerebrospinal fluid circulation (fluid around the brain and spinal cord), and/or malignant transformation of the melanocytes.the prognosis of patients with symptomatic neurocutaneous melanosis is extremely poor, even in the absence of malignancy. chemotherapy has been ineffective in the few patients in whom it has been tried. last updated: 4/18/2011

MalaCards based summary: Neurocutaneous Melanosis, Somatic, also known as neurocutaneous melanosis, is related to melanoma and dandy-walker complex, and has symptoms including melanocytic nevus, hypertrichosis and thickened skin. An important gene associated with Neurocutaneous Melanosis, Somatic is NRAS (neuroblastoma RAS viral (v-ras) oncogene homolog). Affiliated tissues include skin, brain and spinal cord.

OMIM:45 Neurocutaneous melanosis, or neuromelanosis, is characterized by the presence of melanin-producing cells within the... (249400) more...

Wikipedia:63 Neurocutaneous melanosis is a congenital disorder characterized by the presence of congenital... more...

Related Diseases for Neurocutaneous Melanosis, Somatic

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Graphical network of the top 20 diseases related to Neurocutaneous Melanosis, Somatic:



Diseases related to neurocutaneous melanosis, somatic

Symptoms for Neurocutaneous Melanosis, Somatic

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Symptoms by clinical synopsis from OMIM:

249400

Clinical features from OMIM:

249400

Symptoms:

 47 (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

HPO human phenotypes related to Neurocutaneous Melanosis, Somatic:

(show all 36)
id Description Frequency HPO Source Accession
1 melanocytic nevus hallmark (90%) HP:0000995
2 hypertrichosis hallmark (90%) HP:0000998
3 thickened skin hallmark (90%) HP:0001072
4 seizures hallmark (90%) HP:0001250
5 generalized hyperpigmentation hallmark (90%) HP:0007440
6 cognitive impairment hallmark (90%) HP:0100543
7 chorioretinal coloboma occasional (7.5%) HP:0000567
8 behavioral abnormality occasional (7.5%) HP:0000708
9 dandy-walker malformation occasional (7.5%) HP:0001305
10 intracranial hemorrhage occasional (7.5%) HP:0002170
11 abnormality of neuronal migration occasional (7.5%) HP:0002269
12 arnold-chiari malformation occasional (7.5%) HP:0002308
13 eeg abnormality occasional (7.5%) HP:0002353
14 encephalitis occasional (7.5%) HP:0002383
15 meningocele occasional (7.5%) HP:0002435
16 melanoma occasional (7.5%) HP:0002861
17 syringomyelia occasional (7.5%) HP:0003396
18 hemiplegia/hemiparesis occasional (7.5%) HP:0004374
19 thrombophlebitis occasional (7.5%) HP:0004418
20 cranial nerve paralysis occasional (7.5%) HP:0006824
21 aplasia/hypoplasia of the cerebellum occasional (7.5%) HP:0007360
22 abnormal retinal pigmentation occasional (7.5%) HP:0007703
23 renal hypoplasia/aplasia occasional (7.5%) HP:0008678
24 hydrocephalus rare (5%) HP:0000238
25 global developmental delay rare (5%) HP:0001263
26 dandy-walker malformation rare (5%) HP:0001305
27 meningioma rare (5%) HP:0002858
28 syringomyelia rare (5%) HP:0003396
29 arachnoid cyst rare (5%) HP:0100702
30 choroid plexus papilloma rare (5%) HP:0200022
31 seizures HP:0001250
32 mental deterioration HP:0001268
33 melanoma HP:0002861
34 sporadic HP:0003745
35 numerous congenital melanocytic nevi HP:0005603
36 cranial nerve paralysis HP:0006824

Drugs & Therapeutics for Neurocutaneous Melanosis, Somatic

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Drug clinical trials:

Search ClinicalTrials for Neurocutaneous Melanosis, Somatic

Search NIH Clinical Center for Neurocutaneous Melanosis, Somatic

Genetic Tests for Neurocutaneous Melanosis, Somatic

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Anatomical Context for Neurocutaneous Melanosis, Somatic

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MalaCards organs/tissues related to Neurocutaneous Melanosis, Somatic:

31
Skin, Brain, Spinal cord, Amygdala, Pons, Cerebellum, Kidney

Animal Models for Neurocutaneous Melanosis, Somatic or affiliated genes

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Publications for Neurocutaneous Melanosis, Somatic

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Variations for Neurocutaneous Melanosis, Somatic

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UniProtKB/Swiss-Prot genetic disease variations for Neurocutaneous Melanosis, Somatic:

62
id Symbol AA change Variation ID SNP ID
1NRASp.Gln61LysVAR_006846
2NRASp.Gln61ArgVAR_006847rs11554290

Clinvar genetic disease variations for Neurocutaneous Melanosis, Somatic:

6
id Gene Variation Type Significance SNP ID Assembly Location
1NRASNM_002524.4(NRAS): c.182A> G (p.Gln61Arg)single nucleotide variantPathogenicrs11554290GRCh37Chr 1, 115256529: 115256529
2NM_002524.4(NRAS): c.181C> A (p.Gln61Lys)single nucleotide variantPathogenicrs121913254GRCh37Chr 1, 115256530: 115256530

Cosmic variations for Neurocutaneous Melanosis, Somatic:

7
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
128048NRASskin,upper extremity,malignant melanoma,NS3
236378NRASskin,upper extremity,malignant melanoma,NS3
328049NRASskin,upper extremity,malignant melanoma,NS3
41131BRAFskin,upper extremity,malignant melanoma,NS3
5476BRAFskin,upper extremity,malignant melanoma,NS3
648298CDKN2Askin,upper extremity,malignant melanoma,NS3

Expression for genes affiliated with Neurocutaneous Melanosis, Somatic

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Search GEO for disease gene expression data for Neurocutaneous Melanosis, Somatic.

Pathways for genes affiliated with Neurocutaneous Melanosis, Somatic

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Compounds for genes affiliated with Neurocutaneous Melanosis, Somatic

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GO Terms for genes affiliated with Neurocutaneous Melanosis, Somatic

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Products for genes affiliated with Neurocutaneous Melanosis, Somatic

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  • Kits and Assays

Sources for Neurocutaneous Melanosis, Somatic

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet