Congenital fibrosis of extraocular muscles
ORPHA:45358DiseaseAutosomal dominant, Autosomal recessive, Not applicableNeonatal
Ассоциированные гены6
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| COL25A1 | collagen type XXV alpha 1 chain | Disease-causing germline mutation(s) in | gene with protein product | 610004 |
| TUBA1A | tubulin alpha 1a | Disease-causing germline mutation(s) in | gene with protein product | 602529 |
| PHOX2A | paired like homeobox 2A | Disease-causing germline mutation(s) in | gene with protein product | 602753 |
| KIF21A | kinesin family member 21A | Disease-causing germline mutation(s) in | gene with protein product | 608283 |
| TUBB3 | tubulin beta 3 class III | Disease-causing germline mutation(s) in | gene with protein product | 602661 |
| TUBB2B | tubulin beta 2B class IIb | Disease-causing germline mutation(s) in | gene with protein product | 612850 |
Фенотипы (HPO)36
Очень частый (80–99%)11
HP:0000486Strabismus
HP:0000508Ptosis
HP:0000542Impaired ocular adduction
HP:0000577Exotropia
HP:0001491Congenital fibrosis of extraocular muscles
HP:0011347Abnormality of ocular abduction
HP:0012241Levator palpebrae superioris atrophy
HP:0025721Limited vertical extraocular movement
HP:0030211Slow pupillary light response
HP:0030534Abnormal best corrected visual acuity test
HP:6000709Absent Bell phenomenon
Частый (30–79%)9
HP:0000512Abnormal electroretinogram
HP:0000539Abnormality of refraction
HP:0000616Miosis
HP:0000646Amblyopia
HP:0001477Compensatory chin elevation
HP:0007831Nonprogressive restrictive external ophthalmoplegia
HP:0012547Abnormal involuntary eye movements
HP:0025309Abnormal pupil shape
HP:0030588Abnormal visual field test
Периодический (5–29%)16
HP:0009380Finger aplasia
HP:0000044Hypogonadotropic hypogonadism
HP:0000473Torticollis
HP:0000518Cataract
HP:0000565Esotropia
HP:0000609Optic nerve hypoplasia
HP:0001249Intellectual disability
HP:0001252Hypotonia
HP:0001357Plagiocephaly
HP:0002013Vomiting
HP:0002126Polymicrogyria
HP:0002194Delayed gross motor development
HP:0008527Congenital sensorineural hearing impairment
HP:0009916Anisocoria
HP:0025186Marcus Gunn jaw winking synkinesis
HP:0032466Aplasia of the olfactory bulb
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only |
| Point prevalence | 1-9 / 1 000 000 | 0.43 | United Kingdom | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)