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Familial exudative vitreoretinopathy

ORPHA:891DiseaseAutosomal dominant, Autosomal recessive, X-linked recessiveInfancy, Neonatal

Ассоциированные гены (6)

CTNNB1
catenin beta 1
Disease-causing germline mutation(s) (loss of function) in
OMIM: 116806
FZD4
frizzled class receptor 4
Disease-causing germline mutation(s) in
OMIM: 604579
LRP5
LDL receptor related protein 5
Disease-causing germline mutation(s) in
OMIM: 603506
NDP
norrin cystine knot growth factor NDP
Disease-causing germline mutation(s) in
OMIM: 300658
TSPAN12
tetraspanin 12
Disease-causing germline mutation(s) in
OMIM: 613138
ZNF408
zinc finger protein 408
Disease-causing germline mutation(s) in
OMIM: 616454

Фенотипы (27)

Облигатный (100%) — 1
HP:0007773Vitreoretinopathy
Очень частый (80–99%) — 1
HP:0007685Peripheral retinal avascularization
Частый (30–79%) — 6
HP:0001493Falciform retinal fold
HP:0007663Reduced visual acuity
HP:0007917Tractional retinal detachment
HP:0012795Abnormality of the optic disc
HP:0030666Retinal neovascularization
HP:0031526Subretinal fluid
Периодический (5–29%) — 19
HP:0000252Microcephaly
HP:0000365Hearing impairment
HP:0000518Cataract
HP:0000533Chorioretinal atrophy
HP:0000568Microphthalmia
HP:0000618Blindness
HP:0001004Lymphedema
HP:0001141Severely reduced visual acuity
HP:0001256Intellectual disability, mild
HP:0001270Motor delay
HP:0004349Reduced bone mineral density
HP:0007902Vitreous hemorrhage
HP:0011342Mild global developmental delay
HP:0012230Rhegmatogenous retinal detachment
HP:0030496Macular exudate
HP:0030503Macular telangiectasia
HP:0040049Macular edema
HP:0100014Epiretinal membrane
HP:0100832Vitreous floaters

Эпидемиология (1)

Point prevalence
Unknown
Worldwide

Лекарства и терапия

Источник: Open Targets Platform (в реальном времени)

Клинические исследования

Источник: ClinicalTrials.gov (в реальном времени)

Внешние ресурсы

OrphanetOMIMOpen TargetsClinicalTrials