Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
ORPHA:5DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)25
Очень частый (80–99%)3
HP:0000613Photophobia
HP:0001943Hypoglycemia
HP:0001985Hypoketotic hypoglycemia
Частый (30–79%)9
HP:0000512Abnormal electroretinogram
HP:0000572Visual loss
HP:0000577Exotropia
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001639Hypertrophic cardiomyopathy
HP:0001939Abnormality of metabolism/homeostasis
HP:0002240Hepatomegaly
HP:0009830Peripheral neuropathy
Периодический (5–29%)13
HP:0000488Retinopathy
HP:0000532Chorioretinal abnormality
HP:0000533Chorioretinal atrophy
HP:0000545Myopia
HP:0000662Nyctalopia
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001290Generalized hypotonia
HP:0001508Failure to thrive
HP:0002611Cholestatic liver disease
HP:0007703Abnormality of retinal pigmentation
HP:0011968Feeding difficulties
HP:0030856Posterior staphyloma
Эпидемиология12
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1 | Europe | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.4 | Australia | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.4 | United States | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.5 | Germany | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 2 | Sweden | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.84 | Poland | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.09 | Estonia | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
| Point prevalence | 1-9 / 100 000 | 8 | Europe | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.5 | Israel | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.3 | Specific population | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.24 | Czech Republic | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)