Wolcott-Rallison syndrome
ORPHA:1667DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)40
Очень частый (80–99%)5
HP:0000857Neonatal insulin-dependent diabetes mellitus
HP:0001392Abnormality of the liver
HP:0001510Growth delay
HP:0002652Skeletal dysplasia
HP:0004322Short stature
Частый (30–79%)7
HP:0001875Decreased total neutrophil count
HP:0002654Multiple epiphyseal dysplasia
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0003073Hypoalbuminemia
HP:0004325Decreased body weight
HP:0006554Acute hepatic failure
HP:0100255Metaphyseal dysplasia
Периодический (5–29%)23
HP:0000083Renal insufficiency
HP:0000252Microcephaly
HP:0000486Strabismus
HP:0000821Hypothyroidism
HP:0000952Jaundice
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0001324Muscle weakness
HP:0001738Exocrine pancreatic insufficiency
HP:0001891Iron deficiency anemia
HP:0001944Dehydration
HP:0001945Fever
HP:0001987Hyperammonemia
HP:0001993Ketoacidosis
HP:0002240Hepatomegaly
HP:0002719Recurrent infections
HP:0002904Hyperbilirubinemia
HP:0011787Central hypothyroidism
HP:0012622Chronic kidney disease
HP:0100827Lymphocytosis
HP:0410263Brain imaging abnormality
HP:0001288Gait disturbance
Очень редкий (1–4%)5
HP:0001541Ascites
HP:0001631Atrial septal defect
HP:0001719Double outlet right ventricle
HP:0002480Hepatic encephalopathy
HP:0002902Hyponatremia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 60 | 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)