Leber congenital amaurosis 5

General Information (adopted from Orphanet):

Synonyms, Signs: LCA5
Number of Symptoms 5
OrphanetNr:
OMIM Id: 604537
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
(HPO:0000639) Nystagmus 17546029 IBIS 555 / 7739
2
(HPO:0000505) Visual impairment 17546029 IBIS 297 / 7739
3
(HPO:0000540) Hypermetropia 17546029 IBIS 99 / 7739
4
(HPO:0000550) Undetectable electroretinogram 17546029 IBIS 25 / 7739
5
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

LCA5;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Dharmaraj et al. (2000) described a multigenerational kindred of Old Order River Brethren, a religious isolate descended from Swiss immigrants to America in the 1750s (Brechbill, 1972), segregating Leber congenital amaurosis. LCA in this kindred was not associated ...
Molecular genetics OMIM In affected members of 3 Pakistani families segregating for LCA5, including the family reported by Mohamed et al. (2003), den Hollander et al. (2007) identified a homozygous frameshift mutation in the LCA5 gene (611408.0001). They identified 3 additional ...