Leber congenital amaurosis 17

General Information (adopted from Orphanet):

Synonyms, Signs: LCA17
Number of Symptoms 3
OrphanetNr:
OMIM Id: 615360
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(OMIM) Extinguished responses on electroretinography 1 / 7739
2
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
3
(OMIM) Vision limited to detection of hand motion 1 / 7739

Associated genes:

GDF6;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Asai-Coakwell et al. (2013) studied a female LCA patient with compound heterozygous mutations in the GDF6 gene (see MOLECULAR GENETICS) who had vision limited to detection of hand motions, with an extinguished electroretinogram (ERG) typical of the LCA ...
Molecular genetics OMIM Asai-Coakwell et al. (2013) analyzed the GDF6 gene in 279 DNA samples from patients diagnosed with Leber congenital amaurosis or juvenile retinitis pigmentosa (JRP) who were negative for mutation in known causative genes, and identified compound heterozygosity for ...