Methylmalonic acidemia with homocystinuria type cblF
ORPHA:79284Clinical subtypeAutosomal recessiveChildhood
Ассоциированные гены1
Фенотипы (HPO)28
Очень частый (80–99%)7
HP:0001889Megaloblastic anemia
HP:0002160Hyperhomocystinemia
HP:0003145Decreased adenosylcobalamin
HP:0003223Decreased methylcobalamin
HP:0012120Methylmalonic aciduria
HP:0031544Elevated propionylcarnitine level
HP:0100502Decreased circulating vitamin B12 concentration
Частый (30–79%)12
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001254Lethargy
HP:0001508Failure to thrive
HP:0001510Growth delay
HP:0001511Intrauterine growth retardation
HP:0001627Abnormal heart morphology
HP:0001999Abnormal facial shape
HP:0002719Recurrent infections
HP:0011968Feeding difficulties
HP:0012758Neurodevelopmental delay
Периодический (5–29%)8
HP:0000122Unilateral renal agenesis
HP:0000175Cleft palate
HP:0000206Glossitis
HP:0000988Skin rash
HP:0001875Decreased total neutrophil count
HP:0006571Reduced number of intrahepatic bile ducts
HP:0010280Stomatitis
HP:0030746Intraventricular hemorrhage
Исключён (0%)1
HP:0003658Hypomethioninemia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 15 | 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)