Histiocytoid cardiomyopathy
ORPHA:137675DiseaseAutosomal recessive, Unknown, X-linked dominantInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)44
Очень частый (80–99%)1
HP:0001649Tachycardia
Частый (30–79%)2
HP:0004755Supraventricular tachycardia
HP:0004756Ventricular tachycardia
Периодический (5–29%)17
HP:0000961Cyanosis
HP:0000980Pallor
HP:0001508Failure to thrive
HP:0001635Congestive heart failure
HP:0001640Cardiomegaly
HP:0001678Atrioventricular block
HP:0001716Wolff-Parkinson-White syndrome
HP:0001945Fever
HP:0002013Vomiting
HP:0002240Hepatomegaly
HP:0002329Drowsiness
HP:0002401Stroke-like episode
HP:0002789Tachypnea
HP:0003546Exercise intolerance
HP:0011712Right bundle branch block
HP:0011716Junctional ectopic tachycardia
HP:0012735Cough
Очень редкий (1–4%)24
HP:0000107Renal cyst
HP:0000147Polycystic ovaries
HP:0000175Cleft palate
HP:0000238Hydrocephalus
HP:0000485Megalocornea
HP:0000568Microphthalmia
HP:0000648Optic atrophy
HP:0001250Seizure
HP:0001254Lethargy
HP:0001274Agenesis of corpus callosum
HP:0001629Ventricular septal defect
HP:0001907Thromboembolism
HP:0001943Hypoglycemia
HP:0002301Hemiplegia
HP:0002438Cerebellar malformation
HP:0003128Lactic acidosis
HP:0004749Atrial flutter
HP:0005110Atrial fibrillation
HP:0005165Shortened PR interval
HP:0005950Laryngeal web
HP:0007185Loss of consciousness
HP:0007707Congenital aphakia
HP:0007957Corneal opacity
HP:0100598Pulmonary edema
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
| Cases/families | — | 100 | Worldwide | Case(s) |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)