DPAGT1-CDG
ORPHA:86309DiseaseAutosomal recessiveChildhood, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)69
Частый (30–79%)9
HP:0000519Developmental cataract
HP:0001250Seizure
HP:0001508Failure to thrive
HP:0002342Intellectual disability, moderate
HP:0002521Hypsarrhythmia
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0008947Floppy infant
HP:0010864Intellectual disability, severe
HP:0012758Neurodevelopmental delay
Периодический (5–29%)49
HP:0008936Axial hypotonia
HP:0200134Epileptic encephalopathy
HP:0410263Brain imaging abnormality
HP:0000252Microcephaly
HP:0000483Astigmatism
HP:0000486Strabismus
HP:0000510Rod-cone dystrophy
HP:0000577Exotropia
HP:0000639Nystagmus
HP:0000648Optic atrophy
HP:0000662Nyctalopia
HP:0000717Autism
HP:0000718Aggressive behavior
HP:0000750Delayed speech and language development
HP:0000939Osteoporosis
HP:0000998Hypertrichosis
HP:0001072Thickened skin
HP:0001166Arachnodactyly
HP:0001265Hyporeflexia
HP:0001276Hypertonia
HP:0001317Abnormal cerebellum morphology
HP:0001321Cerebellar hypoplasia
HP:0001371Flexion contracture
HP:0001657Prolonged QT interval
HP:0001903Anemia
HP:0001976Reduced antithrombin III activity
HP:0002079Hypoplasia of the corpus callosum
HP:0002089Pulmonary hypoplasia
HP:0002120Cerebral cortical atrophy
HP:0002123Generalized myoclonic seizure
HP:0002170Intracranial hemorrhage
HP:0002240Hepatomegaly
HP:0002283Global brain atrophy
HP:0002650Scoliosis
HP:0003186Inverted nipples
HP:0003429CNS hypomyelination
HP:0004855Reduced protein S activity
HP:0009125Lipodystrophy
HP:0010781Skin dimple
HP:0010845EEG with generalized slow activity
HP:0011097Epileptic spasm
HP:0011153Focal motor seizure
HP:0011968Feeding difficulties
HP:0012050Anasarca
HP:0012385Camptodactyly
HP:0012512Diffuse optic disc pallor
HP:0025534Ocular melanocytosis
HP:0030084Clinodactyly
HP:0030213Emotional blunting
Очень редкий (1–4%)11
HP:0000365Hearing impairment
HP:0001251Ataxia
HP:0001337Tremor
HP:0001344Absent speech
HP:0001558Decreased fetal movement
HP:0001989Fetal akinesia sequence
HP:0002304Akinesia
HP:0002401Stroke-like episode
HP:0002540Inability to walk
HP:0012168Head-banging
HP:0012172Stereotypical body rocking
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 18 | 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)