OPTIC ATROPHY 5

General Information (adopted from Orphanet):

Synonyms, Signs: OPA5
Number of Symptoms 5
OrphanetNr:
OMIM Id: 610708
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:0007924) Slow decrease in visual acuity 4 / 7739
2
(HPO:0000552) Tritanomaly 6 / 7739
3
(HPO:0000603) Central scotoma 18 / 7739
4
(HPO:0000648) Optic atrophy 238 / 7739
5
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Barbet et al. (2005) described 2 unrelated 3-generation French families with autosomal dominant optic atrophy. Although the age of onset was in the first decade in one family and in the third decade in the other, the phenotype ...
Molecular genetics OMIM In 2 unrelated 3-generation French families with autosomal dominant OPA mapping to chromosome 22q, Barbet et al. (2005) screened 3 candidate genes, OSBP2 (606729), HSC20 (608142), and HSPC051, but found no disease-causing alterations.