Familial multiple meningioma

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 4
OrphanetNr: 263662
OMIM Id: 607174
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Tumor of the meninges
 -Rare neurologic disease
 -Rare oncologic disease

Symptom Information: Sort by abundance 

1
(HPO:0002858) Meningioma 22 / 7739
2
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
3
(HPO:0003829) Incomplete penetrance 85 / 7739
4
(HPO:0003581) Adult onset 117 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Aavikko et al. (2012) reported a Finnish family in which 5 sibs had adult-onset meningiomas between the ages of 43 and 72 years. Four of the 5 had multiple tumors. Germline and somatic alterations of the NF2 gene ...
Molecular genetics OMIM - Mutation in the SUFU Gene

In affected members of a Finnish family with multiple adult-onset meningiomas, Aavikko et al. (2012) identified a germline heterozygous mutation in the SUFU gene (R123C; 607035.0007). The mutation was identified ...