早发性非综合征性白内障

Early onset non-syndromic cataract

ORPHA:91492疾病

定义

一种罕见的遗传性非综合征性眼发育缺陷，具有高度的临床和遗传异质性，最常见的特征是出生时或儿童早期出现双侧、对称性、非进行性白内障。其他眼部表现（如眼前节发育不全、眼缺损、眼球震颤、小角膜、小眼症、近视）可能与此病相关，但除此之外其他器官/系统通常不受影响。

Orphanet 未在本条目上直接标注致病基因。下表由本组所属的下位疾病汇总而来，「来源条目」列给出基因实际标注在哪一个 ORPHA 条目上。

基因	名称	来源条目
AGK	acylglycerol kinase	ORPHA:98994
BFSP1	beaded filament structural protein 1	ORPHA:98991
BFSP2	beaded filament structural protein 2	ORPHA:98984
CHMP4B	charged multivesicular body protein 4B	ORPHA:441447
CRYAA	crystallin alpha A	ORPHA:98994
CRYAB	crystallin alpha B	ORPHA:98991
CRYBA1	crystallin beta A1	ORPHA:98985
CRYBA2	crystallin beta A2	ORPHA:98988
CRYBB1	crystallin beta B1	ORPHA:98984
CRYBB2	crystallin beta B2	ORPHA:98984
CRYBB3	crystallin beta B3	ORPHA:98988
CRYGB	crystallin gamma B	ORPHA:98994
CRYGC	crystallin gamma C	ORPHA:98984
CRYGD	crystallin gamma D	ORPHA:98984
CRYGS	crystallin gamma S	ORPHA:98985
DNMBP	dynamin binding protein	ORPHA:98994
EPHA2	EPH receptor A2	ORPHA:98994
FYCO1	FYVE and coiled-coil domain autophagy adaptor 1	ORPHA:98994
GCNT2	glucosaminyl (N-acetyl) transferase 2 (I blood group)	ORPHA:98994
GJA3	gap junction protein alpha 3	ORPHA:98984
GJA8	gap junction protein alpha 8	ORPHA:98984
HSF4	heat shock transcription factor 4	ORPHA:98994
LEMD2	LEM domain nuclear envelope protein 2	ORPHA:98994
LIM2	lens intrinsic membrane protein 2	ORPHA:98994
LSS	lanosterol synthase	ORPHA:98994
MAF	MAF bZIP transcription factor	ORPHA:98984
MIP	major intrinsic protein of lens fiber	ORPHA:98994
NHS	NHS actin remodeling regulator	ORPHA:98991
PGRMC1	progesterone receptor membrane component 1	ORPHA:98994
SIPA1L3	signal induced proliferation associated 1 like 3	ORPHA:98994
UNC45B	unc-45 myosin chaperone B	ORPHA:441447
VIM	vimentin	ORPHA:98984
WFS1	wolframin ER transmembrane glycoprotein	ORPHA:98991

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