Details of Disease

General Information of Disease (ID: DIS30G91)

Disease Name Familial meningioma
Synonyms
susceptibility to familial meningioma; meningioma, familial, susceptibility to; meningioma; hereditary meningioma; meningioma, NF2-related, somatic; meningioma, SIS-related; familial meningioma; hereditary meningioma (disease)
Definition A meningioma that is transmitted from the parents to an offspring.
Disease Hierarchy
DISD715V: Hereditary neurological disease
DISPT4TG: Meningioma
DIS98MYE: Inherited disease susceptibility
DIS30G91: Familial meningioma
Disease Identifiers
MONDO ID
MONDO_0011789
UMLS CUI
C3551915
OMIM ID
607174
MedGen ID
764829

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
NF2 TTZIK7P Limited Unknown [1]
PDGFB TTQA6SX Limited Autosomal dominant [1]
NF2 TTZIK7P Strong Biomarker [2]
PTEN TTXJ3W7 Strong Biomarker [3]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MN1 OTVQR4R9 Limited Autosomal dominant [1]
NF2 OT6E5ACG Limited Unknown [1]
PDGFB OTMFMFC3 Limited Autosomal dominant [1]
SMARCE1 OTAX4ITH Definitive Autosomal dominant [4]
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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 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.Genet Med. 2013 Jul;15(7):565-74. doi: 10.1038/gim.2013.73. Epub 2013 Jun 20.
3 Multiple hamartoma syndrome (Cowden's disease).Arch Dermatol. 1972 Nov;106(5):682-90.
4 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.