Details of Disease | DrugMAP

General Information of Disease (ID: DIS7ZS52)

Disease Name	Familial multiple meningioma
Definition	Familial multiple meningioma is a rare, benign neoplasm of the central nervous system characterized by the development of multiple or, rarely, solitary meningiomas in two or more blood relatives, without other apparent syndromic manifestations. Depending on the localization, growth rate and size of the tumors, patients can present with subtle, gradually worsening or abrupt and severe neurological compromise or can be completely asymptomatic.
Disease Hierarchy	DISOZOR8: Meningioma tumour DIS7ZS52: Familial multiple meningioma
Disease Identifiers	MONDO ID MONDO_0016995 UMLS CUI C4707361 MedGen ID 1644853 Orphanet ID 263662 SNOMED CT ID 765202001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SMARCB1	OT2LP7LJ	Supportive	Autosomal dominant	[1]
SMARCE1	OTAX4ITH	Supportive	Autosomal dominant	[2]
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References

1	Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas. J Med Genet. 2011 Feb;48(2):93-7. doi: 10.1136/jmg.2010.082420. Epub 2010 Oct 7.
2	Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas. Nat Genet. 2013 Mar;45(3):295-8. doi: 10.1038/ng.2552. Epub 2013 Feb 3.