Progressive cone dystrophy
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Cone dystrophy |
| Number of Symptoms | 10 |
| OrphanetNr: | 1871 |
| OMIM Id: |
180020
300085 303700 304030 602093 613093 |
| ICD-10: |
H35.5 |
| UMLs: |
C0271092 |
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
267613004 |
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: |
Genetic macular dystrophy
-Rare eye disease -Rare genetic disease |
Symptom Information:
|
|
(HPO:0007829) | Diffuse retinal cone degeneration | 2 / 7739 | ||||
|
|
(HPO:0000642) | Red-green dyschromatopsia | Very frequent [Orphanet] | 25 / 7739 | |||
|
|
(HPO:0000529) | Progressive visual loss | 54 / 7739 | ||||
|
|
(HPO:0011504) | Bull's eye maculopathy | 8 / 7739 | ||||
|
|
(HPO:0000512) | Abnormal electroretinogram | Very frequent [Orphanet] | 61 / 7739 | |||
|
|
(HPO:0000551) | Abnormality of color vision | 20 / 7739 | ||||
|
|
(HPO:0000510) | Rod-cone dystrophy | Very frequent [Orphanet] | 266 / 7739 | |||
|
|
(HPO:0000613) | Photophobia | Very frequent [Orphanet] | 158 / 7739 | |||
|
|
(HPO:0000505) | Visual impairment | Very frequent [Orphanet] | 297 / 7739 | |||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|