ORPHA:2495
Meningioma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
A rare, mostly benign, neoplastic disease characterized by a primary tumor of the meninges, usually located intracranially (~90%) but spinal meningiomas occur as well. Clinical symptoms relate to the location of the tumor and may include seizures, focal neurological deficits (sensory-motor or visual symptoms, cranial nerve dysfunction), vascular complications (occlusion of cerebral blood vessels, deep venous thrombosis, pulmonary embolism), chronically increased intracranial pressure neurocognitive impairment and/or loss of bladder/anus sphincter control.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Meningioma | |
| fr | Méningiome | |
| de | Meningeom | Meningiom |
| es | Meningioma | |
| it | Meningioma | |
| nl | Meningeoom | |
| pt | Meningioma | |
| pl | Oponiak | |
| cs | Meningeom | Meningiom |
| uk | Менінгіома | |
| zh | 脑膜瘤 | |
| tr | Menenjiyom |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 606190 | BTNT | validated | |
| ICD-10 | D32.9 | NTBT | attributed | validated |
| ICD-11 | 2A01.0 | E | specific | validated |
| MONDO | 0016642 | E | validated | |
| MeSH | D008579 | E | validated | |
| UMLS | C0025286 | E | validated | |
| GARD | 7015 | E | validated | |
| MedDRA | 10027191 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:95503Pituitary hormone deficiency of tumoral origin
rare endocrine diseases - ORPHA:252025Tumor of meninges
rare neurological diseases; rare neoplastic diseases
No children.
4
Genes
12 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| 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] |
| AKT1 | Disease-causing germline mutation(s) in | Assessed | HGNC:391 | ENSG00000142208 | 164730 | 14q32.33 | AKT serine/threonine kinase 1 | 31750041[PMID] |
| BAP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:950 | ENSG00000163930 | 603089 | 3p21.1 | BRCA1 associated deubiquitinase 1 | 28170043[PMID] |
| PDGFB | Disease-causing germline mutation(s) in | Assessed | HGNC:8800 | ENSG00000100311 | 190040 | 22q13.1 | platelet derived growth factor subunit B | 2212004[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 | Disease-causing germline mutation(s) in | Assessed | HGNC:16466 | ENSG00000107882 | 607035 | 10q24.32 | SUFU negative regulator of hedgehog signaling | 22958902[PMID] |
| BAP1 | Disease-causing somatic mutation(s) in | Assessed | HGNC:950 | ENSG00000163930 | 603089 | 3p21.1 | BRCA1 associated deubiquitinase 1 | 28170043[PMID] |
| NF2 | Disease-causing somatic mutation(s) in | Assessed | HGNC:7773 | ENSG00000186575 | 607379 | 22q12.2 | NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | 8162072[PMID] |
| PIK3CA | Disease-causing somatic mutation(s) in | Assessed | HGNC:8975 | ENSG00000121879 | 171834 | 3q26.32 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | 26826201[PMID] |
| SMO | Disease-causing somatic mutation(s) in | Assessed | HGNC:11119 | ENSG00000128602 | 601500 | 7q32.1 | smoothened, frizzled class receptor | 23334667[PMID]_23348505[PMID] |
| TERT | Disease-causing somatic mutation(s) in | Assessed | HGNC:11730 | ENSG00000164362 | 187270 | 5p15.33 | telomerase reverse transcriptase | 29216385[PMID]_29312603[PMID] |
| TRAF7 | Disease-causing somatic mutation(s) in | Assessed | HGNC:20456 | ENSG00000131653 | 606692 | 16p13.3 | TNF receptor associated factor 7 | 23334667[PMID]_23348505[PMID] |
5
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 100 000 | 4.15 / 100 000 | Germany | Value and class | Validated | 25249493[PMID] |
| Point prevalence | Unknown | — | Europe | Class only | Validated | ORPHANET |
| Annual incidence | 1-9 / 100 000 | 8.14 / 100 000 | United States | Value and class | Validated | Central Brain Tumor OTHERistry of the United States 2010-2014[OTHER]_29117289[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
74 annotations · validated 2017-07-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010997 | Chromosomal breakage induced by ionizing radiation | |
| HP:0011133 | Increased sensitivity to ionizing radiation | |
| HP:0100009 | Intracranial meningioma | |
| Frequent (79-30%) | ||
| HP:0012658 | Abnormal brain FDG positron emission tomography | |
| HP:0000141 | Amenorrhea | |
| HP:0030521 | Bitemporal hemianopia | |
| HP:0002920 | Decreased circulating ACTH level | |
| HP:0008163 | Decreased circulating cortisol level | |
| HP:0030341 | Decreased circulating follicle stimulating hormone concentration | |
| HP:0030344 | Decreased circulating luteinizing hormone level | |
| HP:0008214 | Decreased serum estradiol | |
| HP:0040171 | Decreased serum testosterone concentration | |
| HP:0012691 | Focal T2 hypointense thalamic lesion | |
| HP:0007359 | Focal-onset seizure | |
| HP:0002315 | Headache | |
| HP:0000044 | Hypogonadotropic hypogonadism | |
| HP:0000802 | Impotence | |
| HP:0000870 | Increased circulating prolactin concentration | |
| HP:0002017 | Nausea and vomiting | |
| HP:0008245 | Pituitary hypothyroidism | |
| HP:0008240 | Secondary growth hormone deficiency | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0001317 | Abnormal cerebellum morphology | |
| HP:0012285 | Abnormal hypothalamus physiology | |
| HP:0030591 | Abnormal kinetic perimetry test | |
| HP:0011442 | Abnormality of central motor function | |
| HP:0011730 | Abnormality of central sensory function | |
| HP:0004408 | Abnormality of the sense of smell | |
| HP:0001251 | Ataxia | |
| HP:0100543 | Cognitive impairment | |
| HP:0006824 | Cranial nerve paralysis | |
| HP:0012505 | Enlarged pituitary gland | |
| HP:0010628 | Facial palsy | |
| HP:0004302 | Functional motor deficit | |
| HP:0001288 | Gait disturbance | |
| HP:0001269 | Hemiparesis | |
| HP:0000238 | Hydrocephalus | |
| HP:0008237 | Hypothalamic hypothyroidism | |
| HP:0002516 | Increased intracranial pressure | |
| HP:0007340 | Lower limb muscle weakness | |
| HP:0002354 | Memory impairment | |
| HP:0011750 | Neoplasm of the anterior pituitary | |
| HP:0001067 | Neurofibromas | |
| HP:0001513 | Obesity | |
| HP:0012246 | Oculomotor nerve palsy | |
| HP:0000602 | Ophthalmoplegia | |
| HP:0001085 | Papilledema | |
| HP:0008202 | Reduced circulating prolactin concentration | |
| HP:0007924 | Slow decrease in visual acuity | |
| HP:0100010 | Spinal meningioma | |
| HP:0100661 | Trigeminal neuralgia | |
| HP:0003484 | Upper limb muscle weakness | |
| HP:0030532 | Visual acuity test abnormality | |
| HP:0007715 | Weak extraocular muscles | |
| Very rare (<4-1%) | ||
| HP:0045026 | Abnormal mediastinum morphology | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0030878 | Abnormality on pulmonary function testing | |
| HP:0003418 | Back pain | |
| HP:0000618 | Blindness | |
| HP:0002512 | Brain stem compression | |
| HP:0001342 | Cerebral hemorrhage | |
| HP:0030766 | Ear pain | |
| HP:0000712 | Emotional lability | |
| HP:0001262 | Excessive daytime somnolence | |
| HP:0010828 | Hemifacial spasm | |
| HP:0011752 | Neoplasm of the posterior pituitary | |
| HP:0008069 | Neoplasm of the skin | |
| HP:0100648 | Neoplasm of the tongue | |
| HP:0006520 | Progressive pulmonary function impairment | |
| HP:0000520 | Proptosis | |
| HP:0001279 | Syncope | |
| HP:0000360 | Tinnitus | |
| HP:0010534 | Transient global amnesia | |
| HP:0000020 | Urinary incontinence | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 8334619[PMID]_15135603[PMID]_15452322[PMID]_16762094[PMID]_17580362[PMID]_10560602[PMID]_19864997[PMID]_20433281[PMID]_21629022[PMID]_22288971[PMID]_27235182[PMID]_22094004[PMID]_21804547[PMID]_24755950[PMID]_11376799[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2495
- This record as JSON: /data/d/2495.json