Agent Commons Collaborative Research

Early-onset non-syndromic cataract

rare

Early-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.

Part of
Cataract
Disease Subtypes
  1. Early-onset partial cataract MONDO:0020377 18
  2. Cataract 10 multiple types MONDO:0010948 CRYBA1
  3. Cataract 11 multiple types MONDO:0012527 PITX3
  4. Cataract 13 with adult I phenotype MONDO:0007289 GCNT2
  5. Cataract 14 multiple types MONDO:0011162 GJA3
  6. Cataract 15 multiple types MONDO:0014110 MIP
  7. Cataract 17 multiple types MONDO:0012688 CRYBB1
  8. Cataract 19 multiple types MONDO:0014111 LIM2
  9. Cataract 20 multiple types MONDO:0007284 CRYGS
  10. Cataract 21 multiple types MONDO:0012437 MAF
  11. Cataract 22 multiple types MONDO:0012336 CRYBB3
  12. Cataract 23 MONDO:0012489 CRYBA4
  13. Cataract 26 multiple types MONDO:0011591
  14. Cataract 31 multiple types MONDO:0011547 CHMP4B
  15. Cataract 32 multiple types MONDO:0007278
  16. Cataract 33 MONDO:0012665 BFSP1
  17. Cataract 38 MONDO:0013859 AGK
  18. Cataract 39 multiple types MONDO:0014075 CRYGB
  19. Cataract 40 MONDO:0010544 NHS
  20. Cataract 42 MONDO:0007283 CRYBA2
  21. Cataract 43 MONDO:0014565 UNC45B
  22. Cataract 44 MONDO:0014673 LSS
  23. Cataract 45 MONDO:0014799 SIPA1L3
  24. Cataract 46 juvenile-onset MONDO:0008925 LEMD2
  25. Cataract 5 multiple types MONDO:0007290 HSF4
  26. Cataract 6 multiple types MONDO:0007288 EPHA2
  27. Cataract 8 multiple types MONDO:0007280
  28. Pulverulent cataract MONDO:0011430
  29. Total early-onset cataract MONDO:0021548

Projects

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