Melanoma and neural system tumor syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: MELANOMA AND NEURAL SYSTEM TUMOR SYNDROME
Melanoma-astrocytoma syndrome
Number of Symptoms 11
OrphanetNr: 252206
OMIM Id: 155755
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Unknown
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Inherited nervous system cancer-predisposing syndrome
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0002858) Meningioma Frequent [Orphanet] 22 / 7739
2
(HPO:0009733) Glioma Very frequent [Orphanet] 8 / 7739
3
(HPO:0100006) Neoplasm of the central nervous system Frequent [Orphanet] 34 / 7739
4
(HPO:0009592) Astrocytoma 15 / 7739
5
(HPO:0002885) Medulloblastoma Frequent [Orphanet] 20 / 7739
6
(HPO:0012056) Cutaneous melanoma 10 / 7739
7
(HPO:0010614) Fibroma Frequent [Orphanet] 10 / 7739
8
(HPO:0002861) Melanoma Very frequent [Orphanet] 18 / 7739
9
(OMIM) Cerebral astrocytoma 1 / 7739
10
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
11
(OMIM) Cutaneous malignant melanoma 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Kaufman et al. (1993) described a family in which cutaneous malignant melanoma (CMM) or cerebral astrocytoma, or both, developed in 8 members over 3 generations. In 2 patients with both malignant melanoma and astrocytoma, the brain tumor followed ...
Molecular genetics OMIM Liu et al. (1995) analyzed the family reported by Kaufman et al. (1993) for germline mutations in the p15 gene (CDKN2B; 600431), the p16 gene (CDKN2A; 600160), including exon 1-beta, and the CDK4 gene (123829); no mutations were ...