Autosomal recessive Stickler syndrome
ORPHA:250984Clinical subtypeAutosomal recessiveChildhood
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| COL9A1 | collagen type IX alpha 1 chain | Disease-causing germline mutation(s) in | gene with protein product | 120210 |
| COL9A2 | collagen type IX alpha 2 chain | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 120260 |
| COL9A3 | collagen type IX alpha 3 chain | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 120270 |
| LOXL3 | lysyl oxidase like 3 | Disease-causing germline mutation(s) in | gene with protein product | 607163 |
Фенотипы (HPO)23
Очень частый (80–99%)4
HP:0000407Sensorineural hearing impairment
HP:0002656Epiphyseal dysplasia
HP:0011003High myopia
HP:0012368Flat face
Частый (30–79%)11
HP:0000272Malar flattening
HP:0000347Micrognathia
HP:0000518Cataract
HP:0000545Myopia
HP:0001382Joint hypermobility
HP:0002829Arthralgia
HP:0003301Irregular vertebral endplates
HP:0004327Abnormal vitreous humor morphology
HP:0005930Abnormality of epiphysis morphology
HP:0007773Vitreoretinopathy
HP:0011800Midface retrusion
Периодический (5–29%)7
HP:0000218High palate
HP:0000541Retinal detachment
HP:0000926Platyspondyly
HP:0002650Scoliosis
HP:0002655Spondyloepiphyseal dysplasia
HP:0006429Broad femoral neck
HP:0007992Lattice retinal degeneration
Очень редкий (1–4%)1
HP:0000175Cleft palate
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 15 | 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)