Familial cerebral cavernous malformation
ORPHA:221061Malformation syndromeAutosomal dominantAll ages
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| CCM2 | CCM2 scaffold protein | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 607929 |
| KRIT1 | KRIT1 ankyrin repeat containing | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 604214 |
| PDCD10 | programmed cell death 10 | Disease-causing germline mutation(s) in | gene with protein product | 609118 |
| PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Disease-causing somatic mutation(s) in | gene with protein product | 171834 |
Фенотипы (HPO)25
Облигатный (100%)1
HP:0033522Cerebral cavernous malformation
Очень частый (80–99%)3
HP:0001250Seizure
HP:0001342Cerebral hemorrhage
HP:0002315Headache
Частый (30–79%)10
HP:0001028Hemangioma
HP:0001048Cavernous hemangioma
HP:0001324Muscle weakness
HP:0002516Increased intracranial pressure
HP:0002650Scoliosis
HP:0003401Paresthesia
HP:0012748Focal T2 hyperintense brainstem lesion
HP:0012749Focal T2 hypointense brainstem lesion
HP:0030430Neuroma
HP:0033748Hypoesthesia
Периодический (5–29%)7
HP:0100561Spinal cord lesion
HP:0002572Episodic vomiting
HP:0007872Choroidal hemangioma
HP:0011276Vascular skin abnormality
HP:0011513Retinal cavernous angioma
HP:0012721Venous malformation
HP:0100543Cognitive impairment
Очень редкий (1–4%)4
HP:0002858Meningioma
HP:0009588Vestibular schwannoma
HP:0009592Astrocytoma
HP:0010512Adrenal calcification
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 15 | Worldwide | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)