Homozygous familial hypercholesterolemia
ORPHA:391665DiseaseAutosomal dominant, Autosomal recessiveNeonatal
Ассоциированные гены6
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| ABCG5 | ATP binding cassette subfamily G member 5 | Candidate gene tested in | gene with protein product | 605459 |
| ABCG8 | ATP binding cassette subfamily G member 8 | Candidate gene tested in | gene with protein product | 605460 |
| APOB | apolipoprotein B | Disease-causing germline mutation(s) in | gene with protein product | 107730 |
| LDLRAP1 | low density lipoprotein receptor adaptor protein 1 | Disease-causing germline mutation(s) in | gene with protein product | 605747 |
| PCSK9 | proprotein convertase subtilisin/kexin type 9 | Disease-causing germline mutation(s) in | gene with protein product | 607786 |
| LDLR | low density lipoprotein receptor | Disease-causing germline mutation(s) in | gene with protein product | 606945 |
Фенотипы (HPO)33
Облигатный (100%)3
HP:0003077Hyperlipidemia
HP:0003124Hypercholesterolemia
HP:0003141Increased LDL cholesterol concentration
Очень частый (80–99%)2
HP:0004416Precocious atherosclerosis
HP:0005177Premature arteriosclerosis
Частый (30–79%)17
HP:0000822Hypertension
HP:0001397Hepatic steatosis
HP:0001645Sudden cardiac death
HP:0001658Myocardial infarction
HP:0001677Coronaryartery atherosclerosis
HP:0001681Angina pectoris
HP:0001920Renal artery stenosis
HP:0002094Dyspnea
HP:0004950Peripheral arterial stenosis
HP:0005162Abnormal left ventricular function
HP:0005181Premature coronary artery atherosclerosis
HP:0006693Myocardial steatosis
HP:0007201Cerebral artery atherosclerosis
HP:0012397Aortic atherosclerosis
HP:0030148Heart murmur
HP:0100261Abnormal tendon morphology
HP:3000062Abnormal internal carotid artery morphology
Периодический (5–29%)7
HP:0000799Renal steatosis
HP:0000991Xanthomatosis
HP:0001653Mitral regurgitation
HP:0002829Arthralgia
HP:0004381Supravalvular aortic stenosis
HP:0004963Calcification of the aorta
HP:0010874Tendon xanthomatosis
Очень редкий (1–4%)4
HP:0001138Optic neuropathy
HP:0012373Abnormal eye physiology
HP:0012638Abnormality of nervous system physiology
HP:0030882Coronary artery aneurysm
Эпидемиология6
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.5842 | Japan | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.3194 | Worldwide | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.22 | Spain | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.625 | Denmark | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.33 | Netherlands | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.125 | Germany | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)