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GTR Home > Conditions/Phenotypes > Familial meningioma

Familial meningioma

Synonyms
Meningioma, familial, susceptibility to

Summary

Excerpted from the GeneReview: MN1 C-Terminal Truncation Syndrome
Individuals with MN1 C-terminal truncation (MCTT) syndrome have mild-to-moderate intellectual disability, severe expressive language delay, dysmorphic facial features (midface hypoplasia, downslanting palpebral fissures, hypertelorism, exophthalmia, short upturned nose, and small low-set ears), and distinctive findings on brain imaging (including perisylvian polymicrogyria and atypical rhombencephalosynapsis). Mild-to-moderate prelingual hearing loss (usually bilateral, conductive, and/or sensorineural) is common. Generalized seizures (observed in the minority of individuals) are responsive to anti-seizure medication. There is an increased risk for craniosynostosis and, thus, increased intracranial pressure. To date, 25 individuals with MCTT syndrome have been identified.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Christopher CY Mak
Jasmine LF Fung
Mianne Lee
view full author information

Available tests

151 tests are in the database for this condition.

Clinical tests (151 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CEBALID, MGCR, MGCR1, MGCR1-PEN, dJ353E16.2, MN1
    Summary: MN1 proto-oncogene, transcriptional regulator

  • Also known as: ACN, BANF, SCH, SWNV, merlin-1, NF2
    Summary: NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor

  • Also known as: IBGC5, PDGF-2, PDGF2, SIS, SSV, c-sis, PDGFB
    Summary: platelet derived growth factor subunit B

  • Also known as: 10q23del, BZS, CWS1, DEC, GLM2, MHAM, MMAC1, PTEN1, PTENbeta, PTENgama, TEP1, PTEN
    Summary: phosphatase and tensin homolog

  • Also known as: BAF57, CSS5, SMARCE1
    Summary: SWI/SNF related BAF chromatin remodeling complex subunit E1

  • Also known as: BCNS2, JBTS32, PRO1280, SUFUH, SUFUXL, SUFU
    Summary: SUFU negative regulator of hedgehog signaling

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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