Cone-Rod Dystrophy 1

Networked: 3 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Eye Diseases: 3522
- Retinal Diseases: 3014
  - Retinal Degeneration: 4078
    - Retinal Dystrophies: 743
      - Retinitis Pigmentosa: 3975
        Cone-Rod Dystrophy 1: 3
- Hereditary Eye Diseases: 18
  - Retinitis Pigmentosa: 3975
    - Cone-Rod Dystrophy 1: 3
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Hereditary Eye Diseases: 18
    - Retinitis Pigmentosa: 3975
      - Cone-Rod Dystrophy 1: 3

Related Diseases

1.	Retinitis Pigmentosa (Pigmentary Retinopathy)
2.	Leber Congenital Amaurosis
3.	Atrophy

Experts

1.	Kato, Kumiko: 2 articles (02/2012 - 11/2009)
2.	Mellersh, Cathryn S: 2 articles (02/2012 - 11/2009)
3.	Miyadera, Keiko: 2 articles (02/2012 - 11/2009)
4.	Sargan, David R: 2 articles (02/2012 - 11/2009)
5.	Boursnell, Mike: 1 article (02/2012)
6.	Aguirre-Hernández, Jesús: 1 article (11/2009)
7.	Barnett, Keith: 1 article (11/2009)
8.	Busse, Claudia: 1 article (11/2009)
9.	Holmes, Nigel: 1 article (11/2009)
10.	Morimoto, Kyohei: 1 article (11/2009)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Cone-Rod Dystrophy 1:

1.	GTP Phosphohydrolases (GTPases)IBA 02/01/2012 - "Previously, a 44 bp insertion in RPGRIP1 (retinitis pigmentosa GTPase regulator interacting protein-1) was associated with a recessive early-onset CRD (cone-rod dystrophy 1, cord1) in a Miniature longhaired dachshund (MLHD) research colony. " 11/11/2009 - "Previously, a 44 bp insertion in exon 2 of retinitis pigmentosa GTPase interacting protein 1 (RPGRIP1) was identified as the cause of cone-rod dystrophy 1 (cord1), a recessive form of progressive retinal atrophy (PRA) in the Miniature Longhaired Dachshund (MLHD), a dog model for Leber congenital amaurosis. "
2.	Retinaldehyde (Retinal)IBA 11/01/2001 - "To describe the phenotype in 4 families with dominantly inherited cone-rod dystrophy, 1 with an R838C mutation and 1 with an R838H mutation in the guanylate cyclase 2D (GUCY2D) gene encoding retinal guanylate cyclase-1. " 11/11/2009 - "Previously, a 44 bp insertion in exon 2 of retinitis pigmentosa GTPase interacting protein 1 (RPGRIP1) was identified as the cause of cone-rod dystrophy 1 (cord1), a recessive form of progressive retinal atrophy (PRA) in the Miniature Longhaired Dachshund (MLHD), a dog model for Leber congenital amaurosis. "
3.	Proteins (Proteins, Gene)FDA Link 02/01/2012 - "Previously, a 44 bp insertion in RPGRIP1 (retinitis pigmentosa GTPase regulator interacting protein-1) was associated with a recessive early-onset CRD (cone-rod dystrophy 1, cord1) in a Miniature longhaired dachshund (MLHD) research colony. " 11/11/2009 - "Previously, a 44 bp insertion in exon 2 of retinitis pigmentosa GTPase interacting protein 1 (RPGRIP1) was identified as the cause of cone-rod dystrophy 1 (cord1), a recessive form of progressive retinal atrophy (PRA) in the Miniature Longhaired Dachshund (MLHD), a dog model for Leber congenital amaurosis. "
4.	Guanylate Cyclase (Guanylyl Cyclase)IBA 11/01/2001 - "To describe the phenotype in 4 families with dominantly inherited cone-rod dystrophy, 1 with an R838C mutation and 1 with an R838H mutation in the guanylate cyclase 2D (GUCY2D) gene encoding retinal guanylate cyclase-1. "
5.	guanylate cyclase 1IBA 11/01/2001 - "To describe the phenotype in 4 families with dominantly inherited cone-rod dystrophy, 1 with an R838C mutation and 1 with an R838H mutation in the guanylate cyclase 2D (GUCY2D) gene encoding retinal guanylate cyclase-1. "