SLC39A8-CDG
ORPHA:468699DiseaseAutosomal recessiveNeonatal
Ассоциированные гены1
Фенотипы (HPO)41
Очень частый (80–99%)6
HP:0002187Intellectual disability, profound
HP:0006829Severe muscular hypotonia
HP:0008277Abnormality of zinc homeostasis
HP:0012301Type II transferrin isoform profile
HP:0012736Profound global developmental delay
HP:0032098Hypomanganesemia
Частый (30–79%)9
HP:0000486Strabismus
HP:0001250Seizure
HP:0001272Cerebellar atrophy
HP:0001531Failure to thrive in infancy
HP:0002120Cerebral cortical atrophy
HP:0002421Poor head control
HP:0002540Inability to walk
HP:0004322Short stature
HP:0025405Visual fixation instability
Периодический (5–29%)26
HP:0000365Hearing impairment
HP:0000369Low-set ears
HP:0000483Astigmatism
HP:0000540Hypermetropia
HP:0000639Nystagmus
HP:0000938Osteopenia
HP:0001332Dystonia
HP:0001347Hyperreflexia
HP:0001363Craniosynostosis
HP:0001392Abnormality of the liver
HP:0002119Ventriculomegaly
HP:0002465Poor speech
HP:0002490Increased CSF lactate
HP:0002521Hypsarrhythmia
HP:0002719Recurrent infections
HP:0002882Sudden episodic apnea
HP:0002928Decreased activity of the pyruvate dehydrogenase complex
HP:0002987Elbow flexion contracture
HP:0006380Knee flexion contracture
HP:0006558Decreased mitochondrial complex III activity in liver tissue
HP:0008314Decreased activity of mitochondrial complex II
HP:0008347Decreased activity of mitochondrial complex IV
HP:0008873Disproportionate short-limb short stature
HP:0009826Limb undergrowth
HP:0010621Cutaneous syndactyly of toes
HP:0012368Flat face
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 10 | 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)