Leber Congenital Amaurosis 17 malady
Categories: Genetic diseases, Eye diseases, Rare diseases, Neuronal diseases
Aliases & Descriptions for Leber Congenital Amaurosis 17:
leber congenital amaurosis 17:
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases, Neuronal diseases
UniProtKB/Swiss-Prot:69 Leber congenital amaurosis 17: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or almost absent pupillary responses, photophobia, high hyperopia and keratoconus.
MalaCards based summary: Leber Congenital Amaurosis 17, also known as lca17, is related to leber congenital amaurosis 1. An important gene associated with Leber Congenital Amaurosis 17 is GDF6 (Growth Differentiation Factor 6). Affiliated tissues include retina and eye.
Disease Ontology:11 A Leber congenital amaurosis that has material basis in mutation in the GDF6 gene on chromosome 8q22.
Description from OMIM:51 615360
Interventional clinical trials:
Search NIH Clinical Center for Leber Congenital Amaurosis 17
Genetic tests related to Leber Congenital Amaurosis 17:
MalaCards organs/tissues related to Leber Congenital Amaurosis 17:35
UniProtKB/Swiss-Prot genetic disease variations for Leber Congenital Amaurosis 17:69
Clinvar genetic disease variations for Leber Congenital Amaurosis 17:5
Search GEO for disease gene expression data for Leber Congenital Amaurosis 17.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet