All individuals with variants in gene KCNJ13

17 entries on 1 page. Showing entries 1 - 17.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00034370 - PubMed: Hejtmancik 2008 multi-generation family, 13 affecteds - - United States European, white - - - - SVD see paper; affecteds 12-85y, fibrillar degeneration vitreous humor, early-onset cataract, minute crystalline deposits neurosensory retina, retinal detachment 1 13 Johan den Dunnen
00034371 - PubMed: Sergouniotis 2011 5-generation family, 2 affected males, unaffacted heterozygous carrier parents M yes - Middle East - - - - LCA see paper; nystagmus, poor night vision, difficulty reading print, bilateral cataract 1 2 Johan den Dunnen
00034372 - PubMed: Sergouniotis 2011 3-generation family, affected male, unaffected heterozygous carrier parents M no United Kingdom (Great Britain) European, white - - - - LCA see paper; strabismus, nystagmus, poor vision, bilateral cataract, ... 1 1 Johan den Dunnen
00034373 - PubMed: Sergouniotis 2011 - - - United Kingdom (Great Britain) - - - - - LCA arly onset retinal dystrophy, heavily pigmented fundi 2 1 Johan den Dunnen
00034374 - PubMed: Sergouniotis 2011 1 consanguineous case - - Turkey - - - - - RPar adult onset RP, night blind, field of vision reduced to <10 degrees 1 2 Johan den Dunnen
00034375 - PubMed: Sergouniotis 2011 - - - United Kingdom (Great Britain) Asia, south - - - - RPar adult onset RP 1 1 Johan den Dunnen
00034376 - PubMed: Khan 2015 2-generation family, 2 affecteds (2F), unaffected heterozygous carrier parents F yes Saudi Arabia - - - - - dystrophy, vitreoretinal, with early-onset cataract nystagmus since birth, decreased vision, total white cataract (right eye); left eye posterior cortical lenticular opacities, unusual retina fundus dystrophic appearance notable for fibrosis over optic disc, clumped pigmentation 1 2 Johan den Dunnen
00034377 - PubMed: Khan 2015 - M - Saudi Arabia - - - - - dystrophy, vitreoretinal, with early-onset cataract early-childhood-onset retinal dystrophy, early-adult-onset cataract, decreased vision, ... 1 1 Johan den Dunnen
00332228 JB23 PubMed: Bryant 2018 - - - United States - - - - - retinal disease - 1 1 LOVD
00333471 1302 PubMed: Soens 2017 possible duplicate - - - - - - - - retinal disease see paper; ... 1 1 LOVD
00363573 08DG-00236 PubMed: Patel 2016 - - - Saudi Arabia - - - - - retinal disease non-syndromic 1 1 LOVD
00386718 OGI2852_004437 PubMed: Zampaglione 2020 - ? - - - - - - - retinal disease - 2 1 LOVD
00390026 5 PubMed: Ruberto 2020 - ? - Italy - - - - - retinal disease optic disk hypoplasia, surrounded by a depigmented halo, macular hyperpigmentation, hypopigmented peripheral retina with dark pigmented spots, highly altered fundus 1 1 LOVD
00390947 - PubMed: Maggi_2021 - F - Switzerland - - - - - retinal disease - 1 1 LOVD
00391350 6 {PMID:Méjécase 2020:3278337 - ? - United Arab Emirates - - - - - retinal disease - 1 1 LOVD
00407691 II:2 PubMed: Pattnaik 2015 - M - Jordan - - - - - retinal disease best corrected visual acuity right, left eye: 20/200, 20/400; fundus examination: retinal pigment epithelium mottling in the macula of both eyes, as well as arteriolar attenuation 10y: best corrected visual acuity right, left eye: 3/60, counting fingers; retinal examination: arteriolar abnormalities, pigmentation of the retina in the macular region, and bilateral retinal pigment epithelium anomalies; optical coherence tomography: retina appeared intact with clearly visible high contrast bands representing the internal limiting membrane, nerve fiber layer, inner plexiform layer, and the outer plexiform layer; thin, high contrast single layer corresponding to the retinal pigment epithelium was also present; spectral domain OCT - only one band was visualized (degeneration of the outer retina), clearly visible areas of hypertrophy in the choroidal structure, small sub-retinal pigment epithelium focal deposits 1 1 LOVD
00407692 II:2 PubMed: Perez-Roustit 2016 - M - Jordan - - - - - retinal disease nystagmus since childhood, best corrected visual acuity right, left eye: 20/400, 20/200, cataracts extracted in both eyes; clumpy pigment deposits, mostly in macular area, causing an uneven line of retinal pigment epithelium on spectral domain optical coherence tomography; increased retinal thickness in retinal parts devoid of pigment deposits around the optic disk and in periphery; hyperreflective formations either in the inner nuclear layer or in the outer nuclear layer 1 1 LOVD
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.