Familial isolated restrictive cardiomyopathy
ORPHA:75249DiseaseAutosomal dominant, Autosomal recessive, Not applicableAll ages
Ассоциированные гены5
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| FLNC | filamin C | Disease-causing germline mutation(s) in | gene with protein product | 102565 |
| KIF20A | kinesin family member 20A | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 605664 |
| TNNI3 | troponin I3, cardiac type | Disease-causing germline mutation(s) in | gene with protein product | 191044 |
| TNNT2 | troponin T2, cardiac type | Disease-causing germline mutation(s) in | gene with protein product | 191045 |
| MYPN | myopalladin | Disease-causing germline mutation(s) in | gene with protein product | 608517 |
Фенотипы (HPO)20
Очень частый (80–99%)1
HP:0005162Abnormal left ventricular function
Частый (30–79%)4
HP:0030718Right atrial enlargement
HP:0030950Pulmonary venous hypertension
HP:0031295Left atrial enlargement
HP:0031329Interstitial cardiac fibrosis
Периодический (5–29%)12
HP:0001639Hypertrophic cardiomyopathy
HP:0001653Mitral regurgitation
HP:0002094Dyspnea
HP:0002205Recurrent respiratory infections
HP:0002240Hepatomegaly
HP:0005110Atrial fibrillation
HP:0005115Supraventricular arrhythmia
HP:0005180Tricuspid regurgitation
HP:0008897Postnatal growth retardation
HP:0012398Peripheral edema
HP:0012764Orthopnea
HP:0100598Pulmonary edema
Очень редкий (1–4%)3
HP:0001279Syncope
HP:0001297Stroke
HP:0001907Thromboembolism
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)