Dilated cardiomyopathy with ataxia
ORPHA:66634DiseaseAutosomal recessiveChildhood, Infancy
Ассоциированные гены1
Фенотипы (HPO)37
Очень частый (80–99%)5
HP:0001251Ataxia
HP:0001510Growth delay
HP:0001644Dilated cardiomyopathy
HP:0003530Glutaric acidemia
HP:00035353-Methylglutaconic aciduria
Частый (30–79%)8
HP:0001511Intrauterine growth retardation
HP:0001657Prolonged QT interval
HP:0002151Increased circulating lactate concentration
HP:0002194Delayed gross motor development
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0004840Hypochromic microcytic anemia
HP:0004856Normochromic microcytic anemia
HP:0012758Neurodevelopmental delay
Периодический (5–29%)8
HP:0000051Perineal hypospadias
HP:0000648Optic atrophy
HP:0001250Seizure
HP:0001414Microvesicular hepatic steatosis
HP:0001998Neonatal hypoglycemia
HP:0008689Bilateral cryptorchidism
HP:0008736Hypoplasia of penis
HP:0011623Muscular ventricular septal defect
Очень редкий (1–4%)16
HP:0000821Hypothyroidism
HP:0001319Neonatal hypotonia
HP:0001324Muscle weakness
HP:0001332Dystonia
HP:0001999Abnormal facial shape
HP:0002061Lower limb spasticity
HP:0002345Action tremor
HP:0002376Developmental regression
HP:0003700Generalized amyotrophy
HP:0007146Bilateral basal ganglia lesions
HP:0007366Atrophy/Degeneration affecting the brainstem
HP:0008619Bilateral sensorineural hearing impairment
HP:0008762Repetitive compulsive behavior
HP:0009110Diaphragmatic eventration
HP:0100660Dyskinesia
HP:0100702Arachnoid cyst
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)