Neurocutaneous Melanosis, Somatic malady
Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases, Cancer diseases categories
Aliases & Descriptions for Neurocutaneous Melanosis, Somatic:
MalaCards categories: See all MalaCards categories (disease lists)
Global: Genetic diseases, Rare diseases, Cancer diseases
Anatomical: Neuronal diseases, Skin diseases
Characteristics (Orphanet epidemiological data):48
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood; Age of death: adolescent,late childhood
NIH Rare Diseases:42 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:46 Neurocutaneous melanosis, or neuromelanosis, is characterized by the presence of melanin-producing cells within the... (249400) more...
Wikipedia:64 Neurocutaneous melanosis is a congenital disorder characterized by the presence of congenital... more...
Symptoms by clinical synopsis from OMIM:249400
Clinical features from OMIM:249400
Symptoms:48 (show all 27)
HPO human phenotypes related to Neurocutaneous Melanosis, Somatic:(show all 36)
MalaCards organs/tissues related to Neurocutaneous Melanosis, Somatic:31
Skin, Brain, Spinal cord, Amygdala, Pons, Cerebellum, Kidney
UniProtKB/Swiss-Prot genetic disease variations for Neurocutaneous Melanosis, Somatic:63
Clinvar genetic disease variations for Neurocutaneous Melanosis, Somatic:5
Cosmic variations for Neurocutaneous Melanosis, Somatic:6
Search GEO for disease gene expression data for Neurocutaneous Melanosis, Somatic.
26ICD10 via Orphanet
34MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet