Hereditary hemorrhagic telangiectasia
ORPHA:774DiseaseAutosomal dominantAll ages
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| ACVRL1 | activin A receptor like type 1 | Disease-causing germline mutation(s) in | gene with protein product | 601284 |
| SMAD4 | SMAD family member 4 | Disease-causing germline mutation(s) in | gene with protein product | 600993 |
| ENG | endoglin | Disease-causing germline mutation(s) in | gene with protein product | 131195 |
| GDF2 | growth differentiation factor 2 | Disease-causing germline mutation(s) in | gene with protein product | 605120 |
Фенотипы (HPO)36
Очень частый (80–99%)8
HP:0000214Lip telangiectasia
HP:0000227Tongue telangiectasia
HP:0000421Epistaxis
HP:0000434Nasal mucosa telangiectasia
HP:0001009Telangiectasia
HP:0004406Spontaneous, recurrent epistaxis
HP:0100579Mucosal telangiectasiae
HP:0100585Telangiectasia of the skin
Частый (30–79%)8
HP:0001409Portal hypertension
HP:0001903Anemia
HP:0002076Migraine
HP:0006548Pulmonary arteriovenous malformation
HP:0006574Hepatic arteriovenous malformation
HP:0011025Abnormality of cardiovascular system physiology
HP:0100026Arteriovenous malformation
HP:0100761Visceral angiomatosis
Периодический (5–29%)20
HP:0000524Conjunctival telangiectasia
HP:0001250Seizure
HP:0001342Cerebral hemorrhage
HP:0001394Cirrhosis
HP:0001399Hepatic failure
HP:0001635Congestive heart failure
HP:0002040Esophageal varix
HP:0002092Pulmonary arterial hypertension
HP:0002105Hemoptysis
HP:0002138Subarachnoid hemorrhage
HP:0002204Pulmonary embolism
HP:0002239Gastrointestinal hemorrhage
HP:0002326Transient ischemic attack
HP:0002408Cerebral arteriovenous malformation
HP:0002629Gastrointestinal arteriovenous malformation
HP:0004936Venous thrombosis
HP:0007763Retinal telangiectasia
HP:0100659Abnormality of the cerebral vasculature
HP:0100784Peripheral arteriovenous fistula
HP:0200008Intestinal polyposis
Эпидемиология7
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 16 | Europe | Value and class |
| Point prevalence | 1-5 / 10 000 | 43.5 | France | Value and class |
| Point prevalence | 1-9 / 100 000 | 2.5 | United Kingdom | Value and class |
| Point prevalence | 1-5 / 10 000 | 15.6 | Denmark | Value and class |
| Point prevalence | 1-5 / 10 000 | 16.25 | Japan | Value and class |
| Point prevalence | 1-9 / 100 000 | 6.1 | United States | Value and class |
| Point prevalence | 1-5 / 10 000 | 19.4 | Specific population | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)