CONE-ROD DYSTROPHY 6

General Information (adopted from Orphanet):

Synonyms, Signs: RETINAL CONE DYSTROPHY 2
CORD6
RCD2
Number of Symptoms 7
OrphanetNr:
OMIM Id: 601777
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0007994) Peripheral visual field loss 13 / 7739
2
(HPO:0007663) Reduced visual acuity 100 / 7739
3
(HPO:0000548) Cone/cone-rod dystrophy 47 / 7739
4
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
5
(HPO:0011463) Childhood onset 65 / 7739
6
(OMIM) Central visual loss early 1 / 7739
7
(OMIM) Peripheral visual field loss later 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Small and Gehrs (1996) studied a family from eastern Tennessee in which 34 members in multiple generations had what the authors called 'autosomal dominant progressive cone degeneration.' Symptoms generally began in the first decade of life and slowly ...
Genotype-Phenotype Correlations OMIM Downes et al. (2001) described the phenotype and electrophysiologic responses in 4 British families, 3 with an R838C mutation (600179.0006) and 1 with an R838H mutation (600179.0008) in the GUCY2D gene. Although subjects had lifelong poor vision in ...
Molecular genetics OMIM In the British family originally reported by Kelsell et al. (1997) and in 3 unrelated families with cone-rod dystrophy, Kelsell et al. (1998) identified 2 different heterozygous mutations in the GUCY2D gene (600179.0005 and 600179.0006, respectively).

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