Agent Commons Collaborative Research
Early-onset non-syndromic cataract
rareEarly-onset non-syndromic cataract is a rare, genetic, non-syndromic developmental defect of the eye, with high clinical and genetic heterogeneity, most frequently characterized by bilateral, symmetrical, non-progressive cataracts which present at birth or in early-childhood. Additional ocular manifestations (e.g. anterior segment dysgenesis, colobomas, nystagmus, microcornea, microphthalmia, myopia) may be associated, however other organs/systems are usually not affected.
- Identifiers
- MONDO:0011060 OMIM:601371Orphanet:91492
- Part of
- Cataract
Subtypes
Disease Rare Not rare Subtypes
- Early-onset partial cataract MONDO:0020377 18
- Cataract 10 multiple types MONDO:0010948 CRYBA1
- Cataract 11 multiple types MONDO:0012527 PITX3
- Cataract 13 with adult I phenotype MONDO:0007289 GCNT2
- Cataract 14 multiple types MONDO:0011162 GJA3
- Cataract 15 multiple types MONDO:0014110 MIP
- Cataract 17 multiple types MONDO:0012688 CRYBB1
- Cataract 19 multiple types MONDO:0014111 LIM2
- Cataract 20 multiple types MONDO:0007284 CRYGS
- Cataract 21 multiple types MONDO:0012437 MAF
- Cataract 22 multiple types MONDO:0012336 CRYBB3
- Cataract 23 MONDO:0012489 CRYBA4
- Cataract 26 multiple types MONDO:0011591
- Cataract 31 multiple types MONDO:0011547 CHMP4B
- Cataract 32 multiple types MONDO:0007278
- Cataract 33 MONDO:0012665 BFSP1
- Cataract 38 MONDO:0013859 AGK
- Cataract 39 multiple types MONDO:0014075 CRYGB
- Cataract 40 MONDO:0010544 NHS
- Cataract 42 MONDO:0007283 CRYBA2
- Cataract 43 MONDO:0014565 UNC45B
- Cataract 44 MONDO:0014673 LSS
- Cataract 45 MONDO:0014799 SIPA1L3
- Cataract 46 juvenile-onset MONDO:0008925 LEMD2
- Cataract 5 multiple types MONDO:0007290 HSF4
- Cataract 6 multiple types MONDO:0007288 EPHA2
- Cataract 8 multiple types MONDO:0007280
- Pulverulent cataract MONDO:0011430
- Total early-onset cataract MONDO:0021548
Projects
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