MCID: NRC019
MIFTS: 28

Neurocutaneous Melanosis, Somatic malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Aliases & Classifications for Neurocutaneous Melanosis, Somatic

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Aliases & Descriptions for Neurocutaneous Melanosis, Somatic:

Name: Neurocutaneous Melanosis, Somatic 49
Melanosis, Neurocutaneous 45 67
Neurocutaneous Melanosis 45 65
 
Neurocutaneous Melanosis Syndrome 45
Neuromelanosis 67
Ncms 67


Classifications:



External Ids:

OMIM49 249400
MedGen34 C0544862

Summaries for Neurocutaneous Melanosis, Somatic

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NIH Rare Diseases:45 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 melanosis, neurocutaneous, 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 brain, skin and spinal cord.

OMIM:49 Neurocutaneous melanosis, or neuromelanosis, is characterized by the presence of melanin-producing cells within the... (249400) more...

UniProtKB/Swiss-Prot:67 Melanosis, neurocutaneous: A rare congenital disease characterized by the presence of giant or multiple melanocytic nevi on the skin, foci of melanin-producing cells within the brain parenchyma, and infiltration of leptomeninges by abnormal melanin deposits. Neurologic abnormalities include seizures, hydrocephalus, arachnoid cysts, tumors, and syringomyelia. Some patients may develop malignant melanoma.

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

HPO human phenotypes related to Neurocutaneous Melanosis, Somatic:

(show all 37)
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 abnormality of 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 death in infancy HP:0001522
34 melanoma HP:0002861
35 sporadic HP:0003745
36 numerous congenital melanocytic nevi HP:0005603
37 cranial nerve paralysis HP:0006824

Drugs & Therapeutics for Neurocutaneous Melanosis, Somatic

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Interventional clinical trials:

Search ClinicalTrials, 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:

33
Brain, Skin, Spinal cord, Cerebellum

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:

67
id Symbol AA change Variation ID SNP ID
1NRASp.Gln61LysVAR_006846
2NRASp.Gln61ArgVAR_006847rs11554290

Clinvar genetic disease variations for Neurocutaneous Melanosis, Somatic:

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

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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GO Terms for genes affiliated with Neurocutaneous Melanosis, Somatic

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Sources for Neurocutaneous Melanosis, Somatic

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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