Isolated sedoheptulokinase deficiency
ORPHA:440713DiseaseAutosomal recessiveAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)28
Облигатный (100%)3
HP:0001371Flexion contracture
HP:0002804Arthrogryposis multiplex congenita
HP:0012768Neonatal asphyxia
Частый (30–79%)25
HP:0000023Inguinal hernia
HP:0000083Renal insufficiency
HP:0000091Abnormal renal tubule morphology
HP:0000239Large fontanelles
HP:0000256Macrocephaly
HP:0000348High forehead
HP:0000586Shallow orbits
HP:0000601Hypotelorism
HP:0001385Hip dysplasia
HP:0001396Cholestasis
HP:0001409Portal hypertension
HP:0001540Diastasis recti
HP:0001623Breech presentation
HP:0001903Anemia
HP:0002119Ventriculomegaly
HP:0002570Steatorrhea
HP:0002611Cholestatic liver disease
HP:0004322Short stature
HP:0004840Hypochromic microcytic anemia
HP:0008850Severe postnatal growth retardation
HP:0011400Abnormal CNS myelination
HP:0011998Postprandial hyperglycemia
HP:0012115Hepatitis
HP:0012157Subcortical cerebral atrophy
HP:0100886Abnormality of globe location
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | 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)