Autosomal dominant optic atrophy and cataract

General Information (adopted from Orphanet):

Synonyms, Signs: OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT
opa3, autosomal dominant
Autosomal dominant optic atrophy type 3
Number of Symptoms 9
OrphanetNr: 67036
OMIM Id: 165300
ICD-10: H47.2
UMLs: C1833809
MeSH: C537128
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 14 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal dominant optic atrophy
 -Rare eye disease
 -Rare genetic disease
Mitochondrial oxidative phosphorylation disorder with no known mechanism
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000648) Optic atrophy 238 / 7739
2
 (HPO:0000518) Cataract 454 / 7739
3
 (HPO:0007663) Reduced visual acuity 100 / 7739
4
 (HPO:0000505) Visual impairment 297 / 7739
5
 (HPO:0001337) Tremor 200 / 7739
6
 (HPO:0002071) Abnormality of extrapyramidal motor function 76 / 7739
7
 (OMIM) Tremor, mild 3 / 7739
8
 (OMIM) Extrapyramidal signs, mild 1 / 7739
9
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Garcin et al. (1961) reported a large French family in which 14 individuals in 7 sibships spanning 4 generations had optic atrophy, cataract, and a neurologic disorder characterized by extrapyramidal signs and ataxia. Inheritance was clearly autosomal dominant. ...
Molecular genetics OMIM In affected members of 2 families with autosomal dominant optic atrophy and cataract, including the family first described by Garcin et al. (1961), Reynier et al. (2004) identified 2 different heterozygous mutations in the OPA3 gene (G93S; 606580.0002 ...