Familial thoracic aortic aneurysm and aortic dissection
ORPHA:91387DiseaseAutosomal dominantAdolescent, Adult, Childhood
Ассоциированные гены20
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| FOXE3 | forkhead box E3 | Disease-causing germline mutation(s) in | gene with protein product | 601094 |
| THSD4 | thrombospondin type 1 domain containing 4 | Disease-causing germline mutation(s) in | gene with protein product | 614476 |
| SMAD2 | SMAD family member 2 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 601366 |
| LOX | lysyl oxidase | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 153455 |
| MAT2A | methionine adenosyltransferase 2A | Candidate gene tested in | gene with protein product | 601468 |
| ELN | elastin | Candidate gene tested in | gene with protein product | 130160 |
| HEY2 | hes related family bHLH transcription factor with YRPW motif 2 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 604674 |
| EFEMP2 | EGF-like fibulin extracellular matrix protein 2 | Disease-causing germline mutation(s) in | gene with protein product | 604633 |
| TGFB3 | transforming growth factor beta 3 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 190230 |
| TGFBR1 | transforming growth factor beta receptor 1 | Disease-causing germline mutation(s) in | gene with protein product | 190181 |
| TGFBR2 | transforming growth factor beta receptor 2 | Disease-causing germline mutation(s) in | gene with protein product | 190182 |
| FBN1 | fibrillin 1 | Disease-causing germline mutation(s) in | gene with protein product | 134797 |
| ACTA2 | actin alpha 2, smooth muscle | Disease-causing germline mutation(s) in | gene with protein product | 102620 |
| MYLK | myosin light chain kinase | Disease-causing germline mutation(s) in | gene with protein product | 600922 |
| SMAD3 | SMAD family member 3 | Disease-causing germline mutation(s) in | gene with protein product | 603109 |
| PRKG1 | protein kinase cGMP-dependent 1 | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 176894 |
| MFAP5 | microfibril associated protein 5 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 601103 |
| TGFB2 | transforming growth factor beta 2 | Disease-causing germline mutation(s) in | gene with protein product | 190220 |
| SMAD4 | SMAD family member 4 | Disease-causing germline mutation(s) in | gene with protein product | 600993 |
| MYH11 | myosin heavy chain 11 | Disease-causing germline mutation(s) in | gene with protein product | 160745 |
Фенотипы (HPO)42
Очень частый (80–99%)3
HP:0000965Cutis marmorata
HP:0003549Abnormality of connective tissue
HP:0200146Cystic medial necrosis of the aorta
Частый (30–79%)11
HP:0000525Abnormality iris morphology
HP:0000822Hypertension
HP:0001640Cardiomegaly
HP:0001659Aortic regurgitation
HP:0001677Coronaryartery atherosclerosis
HP:0002875Exertional dyspnea
HP:0004933Ascending aortic dissection
HP:0005162Abnormal left ventricular function
HP:0012499Descending aortic dissection
HP:0012763Paroxysmal dyspnea
HP:0100749Chest pain
Периодический (5–29%)28
HP:0012163Carotid artery dilatation
HP:0100775Dural ectasia
HP:0000023Inguinal hernia
HP:0000098Tall stature
HP:0000278Retrognathia
HP:0000316Hypertelorism
HP:0000766Abnormal sternum morphology
HP:0000978Bruising susceptibility
HP:0001166Arachnodactyly
HP:0001297Stroke
HP:0001643Patent ductus arteriosus
HP:0001647Bicuspid aortic valve
HP:0001763Pes planus
HP:0002105Hemoptysis
HP:0002107Pneumothorax
HP:0002138Subarachnoid hemorrhage
HP:0002140Ischemic stroke
HP:0002326Transient ischemic attack
HP:0002616Aortic root aneurysm
HP:0002647Aortic dissection
HP:0002650Scoliosis
HP:0002686Prenatal maternal abnormality
HP:0002705High, narrow palate
HP:0004944Dilatation of the cerebral artery
HP:0004950Peripheral arterial stenosis
HP:0004959Descending thoracic aorta aneurysm
HP:0005112Abdominal aortic aneurysm
HP:0011106Hypovolemia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 22 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)