Pontocerebellar hypoplasia type 2
ORPHA:2524Malformation syndromeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены5
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| TSEN15 | tRNA splicing endonuclease subunit 15 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 608756 |
| TSEN54 | tRNA splicing endonuclease subunit 54 | Disease-causing germline mutation(s) in | gene with protein product | 608755 |
| TSEN34 | tRNA splicing endonuclease subunit 34 | Disease-causing germline mutation(s) in | gene with protein product | 608754 |
| TSEN2 | tRNA splicing endonuclease subunit 2 | Disease-causing germline mutation(s) in | gene with protein product | 608753 |
| SEPSECS | Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Disease-causing germline mutation(s) in | gene with protein product | 613009 |
Фенотипы (HPO)40
Очень частый (80–99%)10
HP:0001250Seizure
HP:0001266Choreoathetosis
HP:0001320Cerebellar vermis hypoplasia
HP:0001321Cerebellar hypoplasia
HP:0002123Generalized myoclonic seizure
HP:0002360Sleep abnormality
HP:0006850Hypoplasia of the ventral pons
HP:0011344Severe global developmental delay
HP:0011968Feeding difficulties
HP:0031162Impaired oropharyngeal swallow response
Частый (30–79%)12
HP:0000253Progressive microcephaly
HP:0000340Sloping forehead
HP:0001270Motor delay
HP:0002020Gastroesophageal reflux
HP:0002033Poor suck
HP:0002104Apnea
HP:0002268Paroxysmal dystonia
HP:0002365Hypoplasia of the brainstem
HP:0002719Recurrent infections
HP:0007663Reduced visual acuity
HP:0012469Infantile spasms
HP:0200136Oral-pharyngeal dysphagia
Периодический (5–29%)16
HP:0008936Axial hypotonia
HP:0001257Spasticity
HP:0002079Hypoplasia of the corpus callosum
HP:0002119Ventriculomegaly
HP:0002536Abnormal cortical gyration
HP:0003487Babinski sign
HP:0003558Viral infection-induced rhabdomyolysis
HP:0006895Lower limb hypertonia
HP:0006989Dysplastic corpus callosum
HP:0007598Bilateral single transverse palmar creases
HP:0011171Simple febrile seizures
HP:0011471Gastrostomy tube feeding in infancy
HP:0012765Widened cerebellar subarachnoid space
HP:0025190Bilateral tonic-clonic seizure with generalized onset
HP:0100704Cerebral visual impairment
HP:0200049Upper limb hypertonia
Очень редкий (1–4%)1
HP:0002350Cerebellar cyst
Исключён (0%)1
HP:0001999Abnormal facial shape
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 81 | Worldwide | Family(ies) |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)