Disease #04213 (COD (dystrophy, cone (COD)))

Official abbreviation COD
Name dystrophy, cone (COD)
OMIM ID -
Inheritance -
Individuals reported having this disease 27
Phenotype entries for this disease 20
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -
Date created 2015-02-27 19:22:18 +01:00 (CET)
Date last edited N/A


Individuals

27 entries on 1 page. Showing entries 1 - 27.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00033345 - PubMed: Abu-Safieh-2013 - - - - - - - - - COD - RDH12 RDH12 2 1 Leen Abu Safieh
00033637 - PubMed: de Castro-Miró 2014 - - - Spain - - - - - COD - GUCY2D GUCY2D 1 13 Marta de Castro-Miró
00033674 - PubMed: Bax 2015 2-generation family, 1 affected, unaffected heterozygous parents F - Netherlands - - - - - COD - ABCA4 ABCA4 2 1 Nathalie Bax
00076079 - PubMed: Kitiratschky 2008 - F ? - (German):(United States) - - - - COD cone dystrophy (HP:0000548); Reduced cone ERGs, normal rod ERGs, OD: 0.02, OS: 0.07 ABCA4 ABCA4 2 1 Stéphanie Cornelis
00076080 - PubMed: Kitiratschky 2008 - F ? - (German):(United States) - - - - COD cone dystrophy (HP:0000548); Reduced cone ERGs, normal rod ERGs, OD: 0.05, OS: 0.1 ABCA4 ABCA4 2 1 Stéphanie Cornelis
00076088 - PubMed: Kitiratschky 2008 - M ? - (German):(United States) - - - - COD cone dystrophy (HP:0000548); Reduced cone ERGs, normal rod ERGs, OD: 0.1, OS: 0.1, Central scotoma ABCA4 ABCA4 2 1 Stéphanie Cornelis
00078119 - PubMed: Bauwens 2014 - ? ? Germany ? - - - - COD cone dystrophy (HP:0000548) ABCA4 ABCA4 1 1 Stéphanie Cornelis
00078120 - PubMed: Bauwens 2014 - ? ? Germany ? - - - - COD cone dystrophy (HP:0000548) ABCA4 ABCA4 1 1 Stéphanie Cornelis
00078121 - PubMed: Bauwens 2014 - ? ? Germany ? - - - - COD cone dystrophy (HP:0000548) ABCA4 ABCA4 1 1 Stéphanie Cornelis
00078122 - PubMed: Bauwens 2014 - ? ? Germany ? - - - - COD cone dystrophy (HP:0000548) ABCA4 ABCA4 1 1 Stéphanie Cornelis
00080792 24697911-FamW08-1833PatII1 PubMed: Nishiguchi 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Netherlands - - - - - COD cone dystrophy - ABHD12 2 1 Lonneke Haer-Wigman
00081100 - Haer-Wigman 2016 - ? no - - - - - - COD Cone-Rod dystrophy nystagmus - ACBD5 2 1 Lonneke Haer-Wigman
00087952 - PubMed: Abu-Safieh-2013 - - - - - - - - - COD - CDHR1 CDHR1 1 1 Leen Abu Safieh
00087957 - PubMed: Nakamura 2000, PubMed: Nakamura 2003 Case 12 and Case 13 are brothers M ? Japan Unknown - - - - COD, fundus albipunctatus (retinitis punctata albescens (RPA)) Fundus albipunctatus; cone dystrophy; white dots RDH5 RDH5 1 1 Raheel Qamar
00087958 - PubMed: Nakamura 2000, PubMed: Nakamura 2003 Case 12 and Case 13 are brothers M ? Japan Unknown - - - - COD, fundus albipunctatus (retinitis punctata albescens (RPA)) Fundus albipunctatus; cone dystrophy; white dots RDH5 RDH5 1 1 Raheel Qamar
00087960 - PubMed: Querques 2009 ? F ? Italy Unknown - - - - COD, fundus albipunctatus (retinitis punctata albescens (RPA)) Fundus albipunctatus; cone dystrophy; numerous yellow-white flecks, bull's eye RDH5 RDH5 1 1 Raheel Qamar
00087978 - PubMed: Nakamura 2004, PubMed: Niwa 2005 4 generation family, 2 affected F yes Japan Unknown - - - - COD, fundus albipunctatus (retinitis punctata albescens (RPA)) Fundus albipunctatus; cone dystrophy; white dots RDH5 RDH5 2 4 Raheel Qamar
00087979 - PubMed: Nakamura 2004, PubMed: Niwa 2005 4 generation family, 2 affected F yes Japan Unknown - - - - COD, fundus albipunctatus (retinitis punctata albescens (RPA)) Fundus albipunctatus; cone dystrophy; white dots RDH5 RDH5 2 4 Raheel Qamar
00087993 - PubMed: Nakamura 2000 ? M ? Japan Unknown - - - - COD, fundus albipunctatus (retinitis punctata albescens (RPA)) Fundus albipunctatus; cone dystrophy; white dots, bull's eye RDH5 RDH5 2 1 Raheel Qamar
00104993 77ORG PubMed: de Castro-Miró 2016 - M no Spain - - - - - COD - - ABCA4 2 1 Marta de Castro-Miró
00170849 IRD4.0_#15 Manuscript under review (González-del Pozo et al., 2018) - M ? Spain - - - - - COD - ABCA4, CNGB3 ABCA4, CNGB3 2 1 María González-del Pozo
00324522 Fam1PatII1 PubMed: Jin 2018, PubMed: Jin 2018 3 generation family, 1 affected (F), unaffected heterozygous carrier parents F ? China - >26y - - - COD photophobia (HP:0000613), reduced visual acuity (HP:0007663), paracentral scotoma (HP:0030528) POC1B POC1B 2 1 Jens Doets
00324526 patient PubMed: Kominami 2019, PubMed: Kominami 2017, Journal: Kominami 2017 2-generation family, 1 affected, unaffected parents M no Japan - >20y - - - COD see paper; ..., decreased central vision (HP:0007663), extreme photophobia (HP:0000613), progressive visual loss in both eyes (HP:0000529), dyschromatopsia (HP:0007641), absent rod-and cone-mediated responses on ERG (HP:0007688) POC1B ALMS1, C1QTNF5, C21orf2, EMC1, GPR125, PDE6A, PEX7, POC1B, PROM1 10 1 Najlae Akhiyate
00324584 A5 - - M no China - >17y - yes none COD - ABCA4 ABCA4 2 1 Qing Zhu
00326802 patient PubMed: Kominami 2017, PubMed: Kominami 2017 - M no Japan Japan >20y - - - COD photophobia (HP:0000613), progressive visual loss in both eyes (HP:0000529), reduced visual acuity (HP:0007663), Dyschromatopsia (HP:0007641), Absent rod-and cone-mediated responses on ERG (HP:0007688) POC1B PEX7, POC1B, PROM1 4 1 Jens Doets
00417505 FamJ PubMed: Olivier 2021 2 generation family, 1 affected F - Spain - - - - - COD see paper IMPG1 IMPG1 1 1 Johan den Dunnen
00469990 - - 2-generation family, 2 non-RP affected (1F, 1M) F;M - Netherlands - - - - - COD - - CEP290, GDPD1, MIR4729, YPEL2 3 2 Suzanne de Bruijn
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.