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neurocutaneous melanocytosis (NCM) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neurocutaneous melanocytosis

MONDO:0009578

Also known as:NCMneurocutaneous melanosisneurocutaneous melanosis, somatic

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Overview

Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death.

GeneticsMultifactorial, Sporadic (not inherited) · NRAS (chr 1)

Clinical Trials1 registered · 1 recruiting

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include sometimes findings: Syringomyelia, Global developmental delay, Arachnoid cyst, and Meningioma and others. 12 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Cranial nerve paralysis, Seizure, Global developmental delay

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

NRAS encodes NRAS proto-oncogene, GTPase (189 aa). Ras proteins bind GDP/GTP and possess intrinsic GTPase activity Highest expression in Cells EBV-transformed lymphocytes (77.3 TPM) and Cells Cultured fibroblasts (52.5 TPM).

Neurocutaneous melanocytosis is associated with mutations in the NRAS gene on chromosome 1.

The NRAS protein participates in S-Farn-Me KRAS4A, HRAS, NRAS and S-Farn-Me PalmS KRAS4A,HRAS, NRAS pathways.

NRAS is classified as a druggable target (Clinically Actionable, Drug Resistance, and Enzyme categories) with score 0.8.

Diagnosis

Genetic testing for NRAS is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for neurocutaneous melanocytosis has been reported in the published literature.

Prognosis

Estimated prevalence: 1-9 in 100,000 (Uncommon).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

37 publications have been identified in PubMed for neurocutaneous melanocytosis. Research spans Case Report / Case Series (51%), Review / Meta-Analysis (30%), and Epidemiology / Natural History (8%).

Research Type	Count	% of Total
Patient case studies	19	51%

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 6:34 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:249400

Orphanet

European rare disease database

Orphanet:2481

GARD

Genetic and Rare Diseases Info Center

GARD:7186

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Should I pursue genetic testing for NRAS, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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neurocutaneous melanocytosis

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

neurocutaneous melanocytosis

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications