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Early-onset posterior polar cataract

ORPHA:98993Clinical subtypeAutosomal dominantInfancy, Neonatal

Ассоциированные гены (8)

PITX3
paired like homeodomain 3
Disease-causing germline mutation(s) in
OMIM: 602669
CRYAB
crystallin alpha B
Disease-causing germline mutation(s) in
OMIM: 123590
CRYBA1
crystallin beta A1
Disease-causing germline mutation(s) in
OMIM: 123610
GJA3
gap junction protein alpha 3
Disease-causing germline mutation(s) in
OMIM: 121015
MIP
major intrinsic protein of lens fiber
Disease-causing germline mutation(s) in
OMIM: 154050
CHMP4B
charged multivesicular body protein 4B
Disease-causing germline mutation(s) in
OMIM: 610897
EPHA2
EPH receptor A2
Disease-causing germline mutation(s) in
OMIM: 176946
PANK4
pantothenate kinase 4 (inactive)
Disease-causing germline mutation(s) in
OMIM: 606162

Лекарства и терапия

Источник: Open Targets Platform (в реальном времени)

Клинические исследования

Источник: ClinicalTrials.gov (в реальном времени)

Внешние ресурсы