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Early-onset lamellar cataract

ORPHA:441452Clinical subtypeAutosomal dominant

Ассоциированные гены (11)

BFSP2
beaded filament structural protein 2
Disease-causing germline mutation(s) in
OMIM: 603212
CRYAA
crystallin alpha A
Disease-causing germline mutation(s) in
OMIM: 123580
CRYAB
crystallin alpha B
Disease-causing germline mutation(s) in
OMIM: 123590
CRYBA1
crystallin beta A1
Disease-causing germline mutation(s) in
OMIM: 123610
CRYBA4
crystallin beta A4
Disease-causing germline mutation(s) in
OMIM: 123631
CRYGC
crystallin gamma C
Disease-causing germline mutation(s) in
OMIM: 123680
CRYGD
crystallin gamma D
Disease-causing germline mutation(s) in
OMIM: 123690
HSF4
heat shock transcription factor 4
Disease-causing germline mutation(s) in
OMIM: 602438
MIP
major intrinsic protein of lens fiber
Disease-causing germline mutation(s) in
OMIM: 154050
CRYGS
crystallin gamma S
Disease-causing germline mutation(s) in
OMIM: 123730
CRYGB
crystallin gamma B
Disease-causing germline mutation(s) in
OMIM: 123670

Лекарства и терапия

Источник: Open Targets Platform (в реальном времени)

Клинические исследования

Источник: ClinicalTrials.gov (в реальном времени)

Внешние ресурсы