COG5-CDG
ORPHA:263487DiseaseAutosomal recessiveChildhood
Ассоциированные гены1
Фенотипы (HPO)46
Очень частый (80–99%)3
HP:0000750Delayed speech and language development
HP:0001270Motor delay
HP:0008947Floppy infant
Частый (30–79%)6
HP:0000252Microcephaly
HP:0000358Posteriorly rotated ears
HP:0000369Low-set ears
HP:0000448Prominent nose
HP:0004322Short stature
HP:0010864Intellectual disability, severe
Периодический (5–29%)37
HP:0000011Neurogenic bladder
HP:0000020Urinary incontinence
HP:0000028Cryptorchidism
HP:0000054Micropenis
HP:0000218High palate
HP:0000278Retrognathia
HP:0000407Sensorineural hearing impairment
HP:0000431Wide nasal bridge
HP:0000470Short neck
HP:0000486Strabismus
HP:0000599Abnormality of the frontal hairline
HP:0000729Autistic behavior
HP:0001250Seizure
HP:0001256Intellectual disability, mild
HP:0001272Cerebellar atrophy
HP:0001348Brisk reflexes
HP:0001433Hepatosplenomegaly
HP:0001511Intrauterine growth retardation
HP:0001562Oligohydramnios
HP:0002078Truncal ataxia
HP:0002240Hepatomegaly
HP:0002342Intellectual disability, moderate
HP:0002506Diffuse cerebral atrophy
HP:0002857Genu valgum
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0003160Abnormal isoelectric focusing of serum transferrin
HP:0006956Dilation of lateral ventricles
HP:0007366Atrophy/Degeneration affecting the brainstem
HP:0009473Joint contracture of the hand
HP:0011471Gastrostomy tube feeding in infancy
HP:0012444Brain atrophy
HP:0012448Delayed myelination
HP:0012762Cerebral white matter atrophy
HP:0040019Finger clinodactyly
HP:0100490Camptodactyly of finger
HP:0100678Premature skin wrinkling
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)