3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
ORPHA:79351Etiological subtypeAutosomal recessiveAdolescent, Childhood, Infancy
Ассоциированные гены1
Фенотипы (HPO)46
Очень частый (80–99%)2
HP:0012277Hypoglycinemia
HP:0012279Hyposerinemia
Частый (30–79%)15
HP:0000252Microcephaly
HP:0000565Esotropia
HP:0001257Spasticity
HP:0001508Failure to thrive
HP:0001511Intrauterine growth retardation
HP:0002013Vomiting
HP:0004322Short stature
HP:0006808Cerebral hypomyelination
HP:0007281Developmental stagnation
HP:0011097Epileptic spasm
HP:0011344Severe global developmental delay
HP:0011451Congenital microcephaly
HP:0011968Feeding difficulties
HP:0012448Delayed myelination
HP:0012762Cerebral white matter atrophy
Периодический (5–29%)29
HP:0006872Cerebral hypoplasia
HP:0000023Inguinal hernia
HP:0000135Hypogonadism
HP:0000519Developmental cataract
HP:0000708Atypical behavior
HP:0000737Irritability
HP:0001181Adducted thumb
HP:0001276Hypertonia
HP:0001537Umbilical hernia
HP:0001889Megaloblastic anemia
HP:0001999Abnormal facial shape
HP:0002020Gastroesophageal reflux
HP:0002069Bilateral tonic-clonic seizure
HP:0002079Hypoplasia of the corpus callosum
HP:0002119Ventriculomegaly
HP:0002121Generalized non-motor (absence) seizure
HP:0002123Generalized myoclonic seizure
HP:0002305Athetosis
HP:0002510Spastic tetraplegia
HP:0002536Abnormal cortical gyration
HP:0006872Cerebral hypoplasia
HP:0007503Generalized ichthyosis
HP:0010719Abnormality of hair texture
HP:0010819Atonic seizure
HP:0010821Focal emotional seizure with laughing
HP:0011343Moderate global developmental delay
HP:0030215Inappropriate crying
HP:0100633Esophagitis
HP:0100704Cerebral visual impairment
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)