CONE DYSTROPHY 4

General Information (adopted from Orphanet):

Synonyms, Signs: ACHM5, INCLUDED
COD4 ACHROMATOPSIA 5, INCLUDED
Number of Symptoms 9
OrphanetNr:
OMIM Id: 613093
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0007663) Reduced visual acuity 100 / 7739
2
(HPO:0000613) Photophobia 158 / 7739
3
(HPO:0000548) Cone/cone-rod dystrophy 47 / 7739
4
(HPO:0000505) Visual impairment 297 / 7739
5
(HPO:0000639) Nystagmus 555 / 7739
6
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
7
(OMIM) Normal rod function on ERG 1 / 7739
8
(OMIM) Absent cone responses on electroretinography (ERG) 1 / 7739
9
(OMIM) Colorblindness, severe to complete 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Thiadens et al. (2009) reported affected members of 4 families with early-onset cone dystrophy due to PDE6C mutations. In 1 family, 2 brothers had severe color vision defects with a reduced cone response on ERG when first examined ...
Molecular genetics OMIM In 116 patients with autosomal recessive early-onset cone photoreceptor disorders, including 85 with autosomal recessive cone dystrophy (arCD), 20 with early-onset arCD, and 11 with achromatopsia, in all of whom involvement of known genes for ACHM and arCD ...