Meningioma, familial, susceptibility to

Preferred Label : Meningioma, familial, susceptibility to;

Type : Phenotype, molecular basis known;

Description : Meningiomas are, in general, slowly growing benign tumors derived from the arachnoidal cap cells of the leptomeninges, the soft coverings of the brain and spinal cord. Meningiomas are believed to be the most common primary tumors of the central nervous system in man. The vast majority of meningiomas are sporadic; familial occurrence of meningioma is rare (Zang, 2001). Familial or multiple meningiomas may also be seen in tumor predisposition syndromes. Some patients with schwannomatosis (162091), caused by mutation in the SMARCB1 gene, may develop meningiomas. One patient with malignant gliomas (GLM2; 613028) associated with a mutation in the PTEN gene (601728) developed a meningioma (Staal et al., 2002).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily 1, member 1 gene (SMARCE1, 603111.0002).; Caused by mutation in the homolog of the Drosophila suppressor of fused gene (SUFU, 607035.0007);

Neoplasia : Meningioma;

Prefixed ID : #607174;

Details

Origin ID

607174;

UMLS CUI

C3551915;

Automatic exact mappings (from CISMeF team)
- Familial multiple meningioma [ORDO Disease]
Genes related to phenotype
- Mn1 protooncogene, transcriptional regulator [OMIM gene]
- Neurofibromin 2 [OMIM gene]
- Phosphatase and tensin homolog [OMIM gene]
- Platelet-derived growth factor, beta polypeptide [OMIM gene]
- Sufu negative regulator of hedgehog signaling [OMIM gene]
- Swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily e, member 1 [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Incomplete penetrance [HPO term]
- Meningioma [HPO term]
ORDO concept(s)
- Familial multiple meningioma [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]

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