Full schwannomatosis
ORPHA:93921DiseaseAutosomal dominantAdult, Elderly
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| NF2 | NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Candidate gene tested in | gene with protein product | 607379 |
| SMARCB1 | SWI/SNF related BAF chromatin remodeling complex subunit B1 | Disease-causing germline mutation(s) in | gene with protein product | 601607 |
| COQ6 | coenzyme Q6, monooxygenase | Major susceptibility factor in | gene with protein product | 614647 |
| LZTR1 | leucine zipper like post translational regulator 1 | Major susceptibility factor in | gene with protein product | 600574 |
Фенотипы (HPO)21
Облигатный (100%)1
HP:0100008Schwannoma
Частый (30–79%)3
HP:0009593Peripheral schwannoma
HP:0010302Spinal cord tumor
HP:0012531Pain
Периодический (5–29%)10
HP:0000131Uterine leiomyoma
HP:0000360Tinnitus
HP:0000365Hearing impairment
HP:0000518Cataract
HP:0001324Muscle weakness
HP:0002650Scoliosis
HP:0002664Neoplasm
HP:0003401Paresthesia
HP:0012032Lipoma
HP:0410275Lumbosacral hemangioma
Очень редкий (1–4%)6
HP:0001250Seizure
HP:0001621Weak voice
HP:0002380Fasciculations
HP:0002858Meningioma
HP:0011750Neoplasm of the anterior pituitary
HP:0033748Hypoesthesia
Исключён (0%)1
HP:0009589Bilateral vestibular schwannoma
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
| Annual incidence | <1 / 1 000 000 | 0.058 | Finland | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)