ACHROMATOPSIA 4
General Information (adopted from Orphanet):
| Synonyms, Signs: |
ACHM4 |
| Number of Symptoms | 5 |
| OrphanetNr: | |
| OMIM Id: |
613856
|
| 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:
|
|
(HPO:0000613) | Photophobia | 158 / 7739 | ||||
|
|
(HPO:0011516) | Achromatopsia | 5 / 7739 | ||||
|
|
(HPO:0000505) | Visual impairment | 297 / 7739 | ||||
|
|
(HPO:0000639) | Nystagmus | 555 / 7739 | ||||
|
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Description: (OMIM) |
Achromatopsia, also referred to as rod monochromacy, is an autosomal recessive ocular disorder characterized by total colorblindness, low visual acuity, photophobia, and nystagmus (Kohl et al., 2002). For a general description and a discussion of genetic ... |
| Molecular genetics OMIM |
Kohl et al. (2002) reported 5 families with achromatopsia, with 4 showing homozygosity for protein-truncation mutations in the GNAT2 gene (139340.0001; 139340.0003-139340.0004). In a consanguineous Pakistani family with achromatopsia-4, Aligianis et al. (2002) used autozygosity mapping ... |