Familial multiple meningioma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial multiple meningioma | |
| fr | Méningiomes multiples familiaux | |
| de | Meningeom, multiples, familiäre Form | |
| es | Meningioma familiar múltiple | |
| it | Meningiomi multipli familiari | |
| nl | Familiaal meervoudig meningeoom | |
| pt | Meningioma familiar múltiplo | |
| pl | Rodzinne mnogie oponiaki | |
| cs | Familiární mnohočetné meningeomy | |
| uk | Сімейна множинна менінгіома | |
| zh | 家族性多发性脑膜瘤 | |
| tr | ailesel çoklu menenjiyom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607174 | BTNT | validated | |
| ICD-10 | D32.9 | NTBT | attributed | validated |
| ICD-11 | 2A01.00 | NTBT | index | validated |
| MONDO | 0016995 | E | validated | |
| UMLS | C4707361 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:252025Tumor of meninges
rare neurological diseases; rare neoplastic diseases
No children.
Genes
5 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MN1 | Candidate gene tested in | Not yet assessed | HGNC:7180 | ENSG00000169184 | 156100 | 22q12.1 | MN1 proto-oncogene, transcriptional regulator | |
| PDGFB | Candidate gene tested in | Not yet assessed | HGNC:8800 | ENSG00000100311 | 190040 | 22q13.1 | platelet derived growth factor subunit B | 3969118[PMID] |
| SMARCE1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:11109 | ENSG00000073584 | 603111 | 17q21.2 | SWI/SNF related BAF chromatin remodeling complex subunit E1 | 23377182[PMID] |
| SMARCB1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11103 | ENSG00000099956 | 601607 | 22q11.23 | SWI/SNF related BAF chromatin remodeling complex subunit B1 | 20930055[PMID] |
| SUFU | Major susceptibility factor in | Assessed | HGNC:16466 | ENSG00000107882 | 607035 | 10q24.32 | SUFU negative regulator of hedgehog signaling | 22958902[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/263662
- This record as JSON: /data/d/263662.json