Details of Disease | DrugMAP

General Information of Disease (ID: DISMA3X2)

Disease Name	Melanoma and neural system tumor syndrome
Synonyms	melanoma astrocytoma syndrome; melanoma and neural system tumor syndrome; melanoma-astrocytoma syndrome
Definition	Melanoma and neural system tumor syndrome is an extremely rare tumor association characterized by dual predisposition to melanoma and neural system tumors (typically astrocytoma).
Disease Hierarchy	DISD715V: Hereditary neurological disease DISGXLG5: Hereditary neoplastic syndrome DISMA3X2: Melanoma and neural system tumor syndrome
Disease Identifiers	MONDO ID MONDO_0007967 MESH ID C536149 UMLS CUI C1835042 OMIM ID 155755 MedGen ID 331890 Orphanet ID 252206 SNOMED CT ID 717968005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CDKN2A	TTFTWQ8	Limited	Autosomal dominant	[1]
CDKN2A	TTFTWQ8	Strong	Genetic Variation	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CDKN2A	OTN0ZWAE	Limited	Autosomal dominant	[1]
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References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
2	Familial melanoma-astrocytoma syndrome: synchronous diffuse astrocytoma and pleomorphic xanthoastrocytoma in a patient with germline CDKN2A/B deletion and a significant family history.Clin Neuropathol. 2017 Sep/Oct;36(5):213-221. doi: 10.5414/NP301022.