Tubulinopathy-associated dysgyria
ORPHA:467166DiseaseAutosomal dominant, Not applicableInfancy
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| TUBA1A | tubulin alpha 1a | Disease-causing germline mutation(s) in | gene with protein product | 602529 |
| TUBB2B | tubulin beta 2B class IIb | Disease-causing germline mutation(s) in | gene with protein product | 612850 |
| TUBB3 | tubulin beta 3 class III | Disease-causing germline mutation(s) in | gene with protein product | 602661 |
Фенотипы (HPO)24
Очень частый (80–99%)9
HP:0000252Microcephaly
HP:0001263Global developmental delay
HP:0001273Abnormal corpus callosum morphology
HP:0001320Cerebellar vermis hypoplasia
HP:0002363Abnormal brainstem morphology
HP:0010663Abnormality of thalamus morphology
HP:0012110Hypoplasia of the pons
HP:0012502Abnormality of the internal capsule
HP:0032398Dysgyria
Частый (30–79%)8
HP:0000486Strabismus
HP:0000657Oculomotor apraxia
HP:0001302Pachygyria
HP:0002119Ventriculomegaly
HP:0007018Attention deficit hyperactivity disorder
HP:0012547Abnormal involuntary eye movements
HP:0031882Agyria
HP:0040327Abnormal morphology of the olfactory bulb
Периодический (5–29%)7
HP:0000256Macrocephaly
HP:0001251Ataxia
HP:0001252Hypotonia
HP:0001488Bilateral ptosis
HP:0002121Generalized non-motor (absence) seizure
HP:0012469Infantile spasms
HP:0020214Startle-induced seizure
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 7 | 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)