Leber Congenital Amaurosis 3 malady
Categories: Genetic diseases, Rare diseases, Eye diseases, Neuronal diseases
Aliases & Descriptions for Leber Congenital Amaurosis 3:
leber congenital amaurosis 3:
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases, Neuronal diseases
OMIM:51 Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and... (604232) more...
MalaCards based summary: Leber Congenital Amaurosis 3, also known as leber congenital amaurosis type 3, is related to leber congenital amaurosis 1 and retinitis pigmentosa, and has symptoms including visual loss, nystagmus and nyctalopia. An important gene associated with Leber Congenital Amaurosis 3 is SPATA7 (Spermatogenesis Associated 7). Affiliated tissues include retina and eye.
Disease Ontology:11 A Leber congenital amaurosis that has material basis in mutation in the SPATA7 gene on chromosome 14q31.
UniProtKB/Swiss-Prot:69 Leber congenital amaurosis 3: 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 near-absent pupillary responses, photophobia, high hyperopia and keratoconus.
Drugs for Leber Congenital Amaurosis 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 11)
Interventional clinical trials:
Search NIH Clinical Center for Leber Congenital Amaurosis 3
Genetic tests related to Leber Congenital Amaurosis 3:
MalaCards organs/tissues related to Leber Congenital Amaurosis 3:35
Clinvar genetic disease variations for Leber Congenital Amaurosis 3:5
Search GEO for disease gene expression data for Leber Congenital Amaurosis 3.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet