SLC35A2-CDG
ORPHA:356961DiseaseUnknownInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)74
Очень частый (80–99%)7
HP:0000707Abnormality of the nervous system
HP:0000924Abnormality of the skeletal system
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0002521Hypsarrhythmia
HP:0008947Floppy infant
Частый (30–79%)26
HP:0000252Microcephaly
HP:0000478Abnormality of the eye
HP:0000951Abnormality of the skin
HP:0001155Abnormality of the hand
HP:0001272Cerebellar atrophy
HP:0001531Failure to thrive in infancy
HP:0001999Abnormal facial shape
HP:0002086Abnormality of the respiratory system
HP:0002500Abnormal cerebral white matter morphology
HP:0002540Inability to walk
HP:0002650Scoliosis
HP:0002715Abnormality of the immune system
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0004322Short stature
HP:0008936Axial hypotonia
HP:0010864Intellectual disability, severe
HP:0011968Feeding difficulties
HP:0012345Abnormal glycosylation
HP:0012348Decreased galactosylation of N-linked protein glycosylation
HP:0012363Decreased sialylation of O-linked protein glycosylation
HP:0012448Delayed myelination
HP:0012469Infantile spasms
HP:0025053Elevated brain N-acetyl aspartate level by MRS
HP:0040288Nasogastric tube feeding
HP:0045060Aplasia/hypoplasia involving bones of the extremities
HP:0100704Cerebral visual impairment
Периодический (5–29%)25
HP:0000407Sensorineural hearing impairment
HP:0000474Thickened nuchal skin fold
HP:0000486Strabismus
HP:0000577Exotropia
HP:0000826Precocious puberty
HP:0001010Hypopigmentation of the skin
HP:0001285Spastic tetraparesis
HP:0001363Craniosynostosis
HP:0001511Intrauterine growth retardation
HP:0001627Abnormal heart morphology
HP:0001762Talipes equinovarus
HP:0001840Metatarsus adductus
HP:0002059Cerebral atrophy
HP:0002079Hypoplasia of the corpus callosum
HP:0002673Coxa valga
HP:0002686Prenatal maternal abnormality
HP:0003121Limb joint contracture
HP:0003186Inverted nipples
HP:0007366Atrophy/Degeneration affecting the brainstem
HP:0007704Paroxysmal involuntary eye movements
HP:0011185EEG with focal epileptiform discharges
HP:0011314Abnormality of long bone morphology
HP:0012762Cerebral white matter atrophy
HP:0012803Anisometropia
HP:0200012Short corpus callosum
Очень редкий (1–4%)16
HP:0000938Osteopenia
HP:0001305Dandy-Walker malformation
HP:0001382Joint hypermobility
HP:0001636Tetralogy of Fallot
HP:0002020Gastroesophageal reflux
HP:0002418Abnormality of midbrain morphology
HP:0002539Cortical dysplasia
HP:0002925Elevated circulating thyroid-stimulating hormone concentration
HP:0005736Short tibia
HP:0006956Dilation of lateral ventricles
HP:0008695Transient nephrotic syndrome
HP:0012210Abnormal renal morphology
HP:0025484Increased circulating thyroglobulin concentration
HP:0025517Hypoplastic hippocampus
HP:0030043Hip subluxation
HP:0100490Camptodactyly of finger
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 4 | 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)