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早发性部分白内障

Early-onset partial cataract

ORPHA:98992疾病亚型

基本事实

遗传方式
常染色体显性、常染色体隐性、X 连锁隐性
发病年龄
婴儿期、新生儿期

相关基因 28来自下位疾病

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
BFSP1beaded filament structural protein 1ORPHA:98991
BFSP2beaded filament structural protein 2ORPHA:98985
CHMP4Bcharged multivesicular body protein 4BORPHA:441447
CRYAAcrystallin alpha AORPHA:98988
CRYABcrystallin alpha BORPHA:98991
CRYBA1crystallin beta A1ORPHA:98985
CRYBA2crystallin beta A2ORPHA:98988
CRYBA4crystallin beta A4ORPHA:441452
CRYBB1crystallin beta B1ORPHA:98991
CRYBB2crystallin beta B2ORPHA:441447
CRYBB3crystallin beta B3ORPHA:98988
CRYGBcrystallin gamma BORPHA:98988
CRYGCcrystallin gamma CORPHA:98991
CRYGDcrystallin gamma DORPHA:98989
CRYGScrystallin gamma SORPHA:98985
EPHA2EPH receptor A2ORPHA:441447
FYCO1FYVE and coiled-coil domain autophagy adaptor 1ORPHA:98991
GJA3gap junction protein alpha 3ORPHA:98991
GJA8gap junction protein alpha 8ORPHA:98985
HSF4heat shock transcription factor 4ORPHA:441452
LEMD2LEM domain nuclear envelope protein 2ORPHA:441447
MAFMAF bZIP transcription factorORPHA:98989
MIPmajor intrinsic protein of lens fiberORPHA:98989
NHSNHS actin remodeling regulatorORPHA:98991
PANK4pantothenate kinase 4 (inactive)ORPHA:98993
PITX3paired like homeodomain 3ORPHA:98993
UNC45Bunc-45 myosin chaperone BORPHA:441447
WFS1wolframin ER transmembrane glycoproteinORPHA:98991

外部标识与链接

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本页数据来源

  • 疾病定义、同义词、基因、表型、流行病学:Orphanet(CC BY 4.0)
  • 中文病名:Orphanet 中文包,冻结于 2020-06-01
  • 表型中文标签:HPO 简体中文翻译(CHPO 上游成果)