Fetal Gaucher disease
ORPHA:85212Clinical subtypeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)31
Очень частый (80–99%)8
HP:0008064Ichthyosis
HP:0001522Death in infancy
HP:0001558Decreased fetal movement
HP:0001876Pancytopenia
HP:0002804Arthrogryposis multiplex congenita
HP:0003811Neonatal death
HP:0003826Stillbirth
HP:0007479Congenital nonbullous ichthyosiform erythroderma
Частый (30–79%)14
HP:0000218High palate
HP:0000463Anteverted nares
HP:0000656Ectropion
HP:0001252Hypotonia
HP:0001371Flexion contracture
HP:0001433Hepatosplenomegaly
HP:0001508Failure to thrive
HP:0001873Thrombocytopenia
HP:0001903Anemia
HP:0002908Conjugated hyperbilirubinemia
HP:0003656Decreased beta-glucocerebrosidase level
HP:0005280Depressed nasal bridge
HP:0031956Elevated circulating aspartate aminotransferase concentration
HP:0000358Posteriorly rotated ears
Периодический (5–29%)9
HP:0000238Hydrocephalus
HP:0001250Seizure
HP:0001276Hypertonia
HP:0001790Nonimmune hydrops fetalis
HP:0002020Gastroesophageal reflux
HP:0002033Poor suck
HP:0002170Intracranial hemorrhage
HP:0002179Opisthotonus
HP:0007957Corneal opacity
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 50 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)