Disease #01178 (AN (aniridia (AN)))

Official abbreviation AN
Name aniridia (AN)
OMIM ID -
Inheritance -
Individuals reported having this disease 43
Phenotype entries for this disease 42
Associated with 3 genes ELP4, PAX6, TRIM44
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2019-07-12 09:10:59 +02:00 (CEST)


Individuals

43 entries on 1 page. Showing entries 1 - 43.
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00036451 - - - - - Germany - - - - - AN aniridia PAX6 PAX6 1 1 Andreas Laner
00036457 - - - - - Germany - - - - - AN aniridia PAX6 PAX6 1 1 Andreas Laner
00047290 - - - - yes China Chinese - - - - AN - - TRIM44 2 7 Bo Zeng
00065003 - PubMed: Brémond-Gignac 2010 - - - United States - - - - - AN lens opacity, aniridia, corneal limbal insufficiency, nystagmus, severe axile myopia, posterior capsular reaction after lens surgery FOXE3 FOXE3 1 1 Deepti Anand
00080926 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - AN Aniridia (OMIM:106210) PAX6 PAX6 1 1 Daniel Trujillano
00165093 - - - - - - - - - - - AN - ALAS2 ALAS2 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00246127 PatI2 PubMed: Xiao 2019 3-generation family, 4 affected (2F, 2M) M - China - - - - - AN best corrected visual acuity R/L 0.05/0.02; aniridia-related keratopathy; complete aniridia; cataract; no glauvoma; macular hypoplasia; nystagmus; esotropia; no ptosis; normal psychomotor development PAX6 PAX6 1 4 Johan den Dunnen
00246128 PatII4 PubMed: Xiao 2019 daughter of PatI2 F - China - - - - - AN best corrected visual acuity R/L 0.02/0.02; no aniridia-related keratopathy; complete aniridia; cataract; no glauvoma; macular hypoplasia; nystagmus; no strabismus ; no ptosis; normal psychomotor development PAX6 PAX6 1 1 Johan den Dunnen
00246129 PatII5 PubMed: Xiao 2019 daughter of PatI2 F - China - - - - - AN best corrected visual acuity R/L 0.1/0.1; no aniridia-related keratopathy; complete aniridia; aphakia, posterior capsule opacification; no glauvoma; macular hypoplasia uncertain (because of PCO); nystagmus; no strabismus ; no ptosis; normal psychomotor development PAX6 PAX6 1 1 Johan den Dunnen
00246130 PatIII4 PubMed: Xiao 2019 son of PatII5 M - China - - - - - AN best corrected visual acuity R/L 0.2/0.2; no aniridia-related keratopathy; complete aniridia; aphakia, posterior capsule opacification; no glauvoma; macular hypoplasia uncertain (because of PCO); nystagmus; exotropia; ptosis; normal psychomotor development PAX6 PAX6 1 1 Johan den Dunnen
00336029 Fam1PatB PubMed: Seese 2021, Journal: Seese 2021 2 generation family, affected female child and father, unaffected mother (does not have variant) F - Dominican Republic black, Hispanic - - - - AN HP:0000526; HP:0000482; HP:0000568 - MAB21L1 1 2 Sarah Seese
00376964 Fam1PatA PubMed: Seese 2021, Journal: Seese 2021 father M - Dominican Republic black, Hispanic - - - - AN bilateral microphthalmia, microcornea, aniridia, ectopia lentis MAB21L1 MAB21L1 1 1 Johan den Dunnen
00384235 12412 PubMed: Wang 2019 - M - China - - - - - AN - PAX6 PAX6 1 1 LOVD
00384245 1312 PubMed: Wang 2019 - M - China - - - - - AN - PAX6 PAX6 1 1 LOVD
00384291 13493 PubMed: Wang 2019 - F - China - - - - - AN - PAX6 PAX6 1 1 LOVD
00384338 13752 PubMed: Wang 2019 - M - China - - - - - AN - PAX6 PAX6 1 1 LOVD
00384418 14402 PubMed: Wang 2019 - F - China - - - - - AN - PAX6 PAX6 1 1 LOVD
00384428 14474 PubMed: Wang 2019 - M - China - - - - - AN - PAX6 PAX6 1 1 LOVD
00384507 18896 PubMed: Wang 2019 - F - China - - - - - AN - PAX6 PAX6 1 1 LOVD
00450410 RPID2134 PubMed: Hall 2024 - - - - - - - - - AN bilateral aniridia, nystagmus, glaucoma - PAX6 1 1 Johan den Dunnen
00450411 RPID877 PubMed: Hall 2024 - - - - - - - - - AN bilateral aniridia, glaucoma, cataracts in young adulthood - PAX6 1 1 Johan den Dunnen
00450412 RPID1019 PubMed: Hall 2024 - - - - - - - - - AN aniridia - PAX6 1 1 Johan den Dunnen
00450413 RPID1500 PubMed: Hall 2024 - - - - - - - - - AN bilateral aniridia, cataracts (posterior subcapsular), absent foveal reflexes, no nystagmus, vision right 6/12 N5 and left 6/36 N5, corneas clear with fine limbal vessels peripherally - PAX6 1 1 Johan den Dunnen
00450414 RPID5645 PubMed: Hall 2024 - - - - - - - - - AN bilateral partial aniridia - PAX6 1 1 Johan den Dunnen
00450415 RPID1635 PubMed: Hall 2024 - - - - - - - - - AN variant aniridia: inferior iris defects, peripheral corneal vascularisation, inferior lens opacities, foveal hypoplasia, nystagmus, poor vision - NYNRIN, PAX6 2 1 Johan den Dunnen
00450416 RPID3612 PubMed: Hall 2024 - - - - - - - - - AN bilateral aniridia, relatively well-preserved foveas, vision 0.4 logMAR, mild keratopathy as teenager, mild cataracts - PAX6 1 1 Johan den Dunnen
00450417 RPID75 PubMed: Hall 2024 - - - - - - - - - AN aniridia - PAX6, PRDM5 2 1 Johan den Dunnen
00450418 RPID724 PubMed: Hall 2024 - - - - - - - - - AN aniridia, type 2 diabetes - PAX6 1 1 Johan den Dunnen
00450419 RPID1496 PubMed: Hall 2024 - - - - - - - - - AN aniridia - PAX6 1 1 Johan den Dunnen
00450420 RPID1524 PubMed: Hall 2024 - - - - - - - - - AN aniridia spectrum, iris and foveal hypoplasia, congenital corneal opacification with small lenses apposed to posterior surface of cornea - PAX6 1 1 Johan den Dunnen
00450421 RPID2464 PubMed: Hall 2024 2-generation family, 2 affected half-brothers - - - - - - - - AN aniridia; half-sibling both affected - PAX6 1 2 Johan den Dunnen
00450422 RPID1190 PubMed: Hall 2024 - - - - - - - - - AN partial aniridia, cataracts (surgery in late 20s) - PAX6 1 1 Johan den Dunnen
00450423 RPID1361 PubMed: Hall 2024 - - - - - - - - - AN aniridia - PAX6 1 1 Johan den Dunnen
00450424 RPID1646 PubMed: Hall 2024 - - - - - - - - - AN aniridia, glaucoma - PAX6 1 1 Johan den Dunnen
00450425 RPID535 PubMed: Hall 2024 - - - - - - - - - AN bilateral aniridia - PAX6 1 1 Johan den Dunnen
00450426 RPID774 PubMed: Hall 2024 - - - - - - - - - AN bilateral aniridia, cataract, drusen at macula and nasal to the optic disc - PAX6 1 1 Johan den Dunnen
00450427 RPID356 PubMed: Hall 2024 - - - - - - - - - AN bilateral aniridia, congenital cataracts - AIM1L, PAX6 2 1 Johan den Dunnen
00450428 RPID1271 PubMed: Hall 2024 - - - - - - - - - AN bilateral aniridia, cataract (extraction both eyes as teenager) - PAX6 2 1 Johan den Dunnen
00450429 RPID1142 PubMed: Hall 2024 - - - - - - - - - AN sporadic aniridia - FOXC1 1 1 Johan den Dunnen
00450430 RPID1451 PubMed: Hall 2024 - - - - - - - - - AN aniridia presenting as congenital glaucoma, biscuspid aortic valve, mild aortic stenosis - FOXC1 1 1 Johan den Dunnen
00450431 RPID1732 PubMed: Hall 2024 - - - - - - - - - AN bilateral aniridia, glaucoma, opaque right cornea, aortic stenosis requiring neonatal surgery (not dysmorphic) - FOXC1 1 1 Johan den Dunnen
00450432 RPID1201 PubMed: Hall 2024 - - - - - - - - - AN aniridia - PAX6 1 1 Johan den Dunnen
00450433 RPID2469 PubMed: Hall 2024 - - - - - - - - - AN aniridia - AHCYL2, HIST1H3D, ZBTB11, ZNF74 5 1 Johan den Dunnen
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