Meningioma
ORPHA:2495DiseaseNot applicableAll ages
Ассоциированные гены12
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| SMARCB1 | SWI/SNF related BAF chromatin remodeling complex subunit B1 | Disease-causing germline mutation(s) in | gene with protein product | 601607 |
| PDGFB | platelet derived growth factor subunit B | Disease-causing germline mutation(s) in | gene with protein product | 190040 |
| SUFU | SUFU negative regulator of hedgehog signaling | Disease-causing germline mutation(s) in | gene with protein product | 607035 |
| NF2 | NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Disease-causing somatic mutation(s) in | gene with protein product | 607379 |
| PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Disease-causing somatic mutation(s) in | gene with protein product | 171834 |
| AKT1 | AKT serine/threonine kinase 1 | Disease-causing germline mutation(s) in | gene with protein product | 164730 |
| TERT | telomerase reverse transcriptase | Disease-causing somatic mutation(s) in | gene with protein product | 187270 |
| BAP1 | BRCA1 associated deubiquitinase 1 | Disease-causing germline mutation(s) in | gene with protein product | 603089 |
| BAP1 | BRCA1 associated deubiquitinase 1 | Disease-causing somatic mutation(s) in | gene with protein product | 603089 |
| SMARCE1 | SWI/SNF related BAF chromatin remodeling complex subunit E1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 603111 |
| TRAF7 | TNF receptor associated factor 7 | Disease-causing somatic mutation(s) in | gene with protein product | 606692 |
| SMO | smoothened, frizzled class receptor | Disease-causing somatic mutation(s) in | gene with protein product | 601500 |
Фенотипы (HPO)74
Очень частый (80–99%)3
HP:0010997Chromosomal breakage induced by ionizing radiation
HP:0011133Increased sensitivity to ionizing radiation
HP:0100009Intracranial meningioma
Частый (30–79%)19
HP:0000044Hypogonadotropic hypogonadism
HP:0000141Amenorrhea
HP:0000802Impotence
HP:0000870Increased circulating prolactin concentration
HP:0001250Seizure
HP:0002017Nausea and vomiting
HP:0002315Headache
HP:0002920Decreased circulating ACTH level
HP:0007359Focal-onset seizure
HP:0008163Decreased circulating cortisol level
HP:0008214Decreased serum estradiol
HP:0008240Secondary growth hormone deficiency
HP:0008245Pituitary hypothyroidism
HP:0012658Abnormal brain FDG positron emission tomography
HP:0012691Focal T2 hypointense thalamic lesion
HP:0030341Decreased circulating follicle stimulating hormone concentration
HP:0030344Decreased circulating luteinizing hormone level
HP:0030521Bitemporal hemianopia
HP:0040171Decreased serum testosterone concentration
Периодический (5–29%)32
HP:0000238Hydrocephalus
HP:0000602Ophthalmoplegia
HP:0001067Neurofibromas
HP:0001085Papilledema
HP:0001251Ataxia
HP:0001269Hemiparesis
HP:0001317Abnormal cerebellum morphology
HP:0001513Obesity
HP:0002354Memory impairment
HP:0002516Increased intracranial pressure
HP:0003484Upper limb muscle weakness
HP:0004302Functional motor deficit
HP:0004408Abnormality of the sense of smell
HP:0006824Cranial nerve paralysis
HP:0007340Lower limb muscle weakness
HP:0007715Weak extraocular muscles
HP:0007924Slow decrease in visual acuity
HP:0008202Reduced circulating prolactin concentration
HP:0008237Hypothalamic hypothyroidism
HP:0010628Facial palsy
HP:0011442Abnormality of central motor function
HP:0011730Abnormality of central sensory function
HP:0011750Neoplasm of the anterior pituitary
HP:0012246Oculomotor nerve palsy
HP:0012285Abnormal hypothalamus physiology
HP:0012505Enlarged pituitary gland
HP:0030532Visual acuity test abnormality
HP:0030591Abnormal kinetic perimetry test
HP:0100010Spinal meningioma
HP:0100543Cognitive impairment
HP:0100661Trigeminal neuralgia
HP:0001288Gait disturbance
Очень редкий (1–4%)20
HP:0000020Urinary incontinence
HP:0000360Tinnitus
HP:0000520Proptosis
HP:0000618Blindness
HP:0000712Emotional lability
HP:0001262Excessive daytime somnolence
HP:0001279Syncope
HP:0001342Cerebral hemorrhage
HP:0002167Abnormality of speech or vocalization
HP:0002512Brain stem compression
HP:0003418Back pain
HP:0006520Progressive pulmonary function impairment
HP:0008069Neoplasm of the skin
HP:0010534Transient global amnesia
HP:0010828Hemifacial spasm
HP:0011752Neoplasm of the posterior pituitary
HP:0030766Ear pain
HP:0030878Abnormality on pulmonary function testing
HP:0045026Abnormality of the mediastinum
HP:0100648Neoplasm of the tongue
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Annual incidence | 1-9 / 100 000 | 4.15 | Germany | Value and class |
| Point prevalence | Unknown | — | Europe | Class only |
| Annual incidence | 1-9 / 100 000 | 8.14 | United States | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)