S-adenosylhomocysteine hydrolase deficiency
ORPHA:88618DiseaseAutosomal recessiveAdolescent, Adult, Antenatal, Childhood, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)44
Очень частый (80–99%)5
HP:0002160Hyperhomocystinemia
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0003073Hypoalbuminemia
HP:0010901Abnormality of methionine metabolism
HP:0010919Abnormality of homocysteine metabolism
Частый (30–79%)27
HP:0000486Strabismus
HP:0000565Esotropia
HP:0000708Atypical behavior
HP:0000736Short attention span
HP:0001263Global developmental delay
HP:0001321Cerebellar hypoplasia
HP:0001392Abnormality of the liver
HP:0001508Failure to thrive
HP:0001510Growth delay
HP:0001789Hydrops fetalis
HP:0001928Abnormality of coagulation
HP:0001976Reduced antithrombin III activity
HP:0001999Abnormal facial shape
HP:0002079Hypoplasia of the corpus callosum
HP:0002376Developmental regression
HP:0002421Poor head control
HP:0003236Elevated circulating creatine kinase concentration
HP:0003429CNS hypomyelination
HP:0003560Muscular dystrophy
HP:0008151Prolonged prothrombin time
HP:0008169Reduced factor VII activity
HP:0008947Floppy infant
HP:0011900Hypofibrinogenemia
HP:0011996Elevated coagulation factor V activity
HP:0012110Hypoplasia of the pons
HP:0012448Delayed myelination
HP:0030890Hyperintensity of cerebral white matter on MRI
Периодический (5–29%)12
HP:0000164Abnormality of the dentition
HP:0000252Microcephaly
HP:0001324Muscle weakness
HP:0001402Hepatocellular carcinoma
HP:0001638Cardiomyopathy
HP:0001763Pes planus
HP:0002119Ventriculomegaly
HP:0002878Respiratory failure
HP:0003235Hypermethioninemia
HP:0007141Sensorimotor neuropathy
HP:0010719Abnormality of hair texture
HP:0012704Widened subarachnoid space
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)