DPM1-CDG
ORPHA:79322DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)59
Очень частый (80–99%)5
HP:0001250Seizure
HP:0003236Elevated circulating creatine kinase concentration
HP:0005484Secondary microcephaly
HP:0008947Floppy infant
HP:0012758Neurodevelopmental delay
Частый (30–79%)9
HP:0000316Hypertelorism
HP:0001508Failure to thrive
HP:0001976Reduced antithrombin III activity
HP:0002705High, narrow palate
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0004855Reduced protein S activity
HP:0005543Reduced protein C activity
HP:0012448Delayed myelination
HP:0100321Abnormality of the dentate nucleus
Периодический (5–29%)45
HP:0000243Trigonocephaly
HP:0000293Full cheeks
HP:0000319Smooth philtrum
HP:0000347Micrognathia
HP:0000486Strabismus
HP:0000488Retinopathy
HP:0000494Downslanted palpebral fissures
HP:0000565Esotropia
HP:0000639Nystagmus
HP:0000648Optic atrophy
HP:0001251Ataxia
HP:0001257Spasticity
HP:0001272Cerebellar atrophy
HP:0001298Encephalopathy
HP:0001395Hepatic fibrosis
HP:0001397Hepatic steatosis
HP:0001433Hepatosplenomegaly
HP:0001847Long hallux
HP:0001852Sandal gap
HP:0002014Diarrhea
HP:0002057Prominent glabella
HP:0002059Cerebral atrophy
HP:0002119Ventriculomegaly
HP:0002123Generalized myoclonic seizure
HP:0002164Nail dysplasia
HP:0002240Hepatomegaly
HP:0003186Inverted nipples
HP:0003241External genital hypoplasia
HP:0003560Muscular dystrophy
HP:0005280Depressed nasal bridge
HP:0005469Flat occiput
HP:0006380Knee flexion contracture
HP:0006879Pontocerebellar atrophy
HP:0007333Hypoplasia of the frontal lobes
HP:0009826Limb undergrowth
HP:0009830Peripheral neuropathy
HP:0010804Tented upper lip vermilion
HP:0010806U-Shaped upper lip vermilion
HP:0010818Generalized tonic seizure
HP:0010819Atonic seizure
HP:0011152Early onset absence seizures
HP:0011471Gastrostomy tube feeding in infancy
HP:0012385Camptodactyly
HP:0025404Abnormal visual fixation
HP:0100704Cerebral visual impairment
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 9 | 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)