Congenital rubella syndrome
ORPHA:290DiseaseNot applicableAntenatal, Neonatal
Фенотипы (HPO)31
Очень частый (80–99%)4
HP:0000407Sensorineural hearing impairment
HP:0000518Cataract
HP:0001511Intrauterine growth retardation
HP:0002167Abnormality of speech or vocalization
Частый (30–79%)22
HP:0000235Abnormality of the fontanelles or cranial sutures
HP:0000252Microcephaly
HP:0000486Strabismus
HP:0000501Glaucoma
HP:0000505Visual impairment
HP:0000568Microphthalmia
HP:0000639Nystagmus
HP:0000988Skin rash
HP:0001249Intellectual disability
HP:0001252Hypotonia
HP:0001264Spastic diplegia
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0001643Patent ductus arteriosus
HP:0001744Splenomegaly
HP:0001873Thrombocytopenia
HP:0001903Anemia
HP:0002240Hepatomegaly
HP:0004322Short stature
HP:0004414Abnormality of the pulmonary artery
HP:0007703Abnormality of retinal pigmentation
HP:0008053Aplasia/Hypoplasia of the iris
Периодический (5–29%)5
HP:0000944Abnormal metaphysis morphology
HP:0000952Jaundice
HP:0001250Seizure
HP:0007957Corneal opacity
HP:0100651Type I diabetes mellitus
Эпидемиология12
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | — | Worldwide | Class only |
| Prevalence at birth | 1-9 / 1 000 000 | 0.29 | France | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.24 | Germany | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.8 | Italy | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.64 | Netherlands | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.27 | Austria | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 2.18 | Romania | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.22 | Spain | Value and class |
| Prevalence at birth | <1 / 1 000 000 | 0.02 | Turkey | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.03 | Europe | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.35 | Europe | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)