Pontocerebellar hypoplasia type 1
ORPHA:2254Malformation syndromeAutosomal recessiveNeonatal
Ассоциированные гены6
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| AGTPBP1 | ATP/GTP binding carboxypeptidase 1 | Disease-causing germline mutation(s) in | gene with protein product | 606830 |
| VRK1 | VRK serine/threonine kinase 1 | Disease-causing germline mutation(s) in | gene with protein product | 602168 |
| EXOSC3 | exosome component 3 | Disease-causing germline mutation(s) in | gene with protein product | 606489 |
| EXOSC8 | exosome component 8 | Disease-causing germline mutation(s) in | gene with protein product | 606019 |
| SLC25A46 | solute carrier family 25 member 46 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 610826 |
| EXOSC9 | exosome component 9 | Disease-causing germline mutation(s) in | gene with protein product | 606180 |
Фенотипы (HPO)29
Очень частый (80–99%)9
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001265Hyporeflexia
HP:0001270Motor delay
HP:0001324Muscle weakness
HP:0002398Degeneration of anterior horn cells
HP:0002878Respiratory failure
HP:0003202Skeletal muscle atrophy
HP:0007360Aplasia/Hypoplasia of the cerebellum
Частый (30–79%)7
HP:0000253Progressive microcephaly
HP:0000529Progressive visual loss
HP:0000639Nystagmus
HP:0000648Optic atrophy
HP:0001508Failure to thrive
HP:0011968Feeding difficulties
HP:0012110Hypoplasia of the pons
Периодический (5–29%)10
HP:0000486Strabismus
HP:0001250Seizure
HP:0001257Spasticity
HP:0001308Tongue fasciculations
HP:0001347Hyperreflexia
HP:0002120Cerebral cortical atrophy
HP:0002350Cerebellar cyst
HP:0003477Peripheral axonal neuropathy
HP:0004886Congenital laryngeal stridor
HP:0033725Thin corpus callosum
Очень редкий (1–4%)3
HP:0000565Esotropia
HP:0001251Ataxia
HP:0002804Arthrogryposis multiplex congenita
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 40 | Worldwide | Family(ies) |
| 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)