Leber Congenital Amaurosis 5 (LCA5)

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Disease Ontology 12 DOID:0110215 OMIM 58 604537 MeSH 45 D057130 ICD10 34 H35.5

MedGen 43 C1858301 SNOMED-CT via HPO 70 246635007 258211005 38101003 397540003 563001 7973008 more UMLS 74 C1858301

UniProtKB/Swiss-Prot : ⁷⁶ Leber congenital amaurosis 5: 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.

MalaCards based summary : Leber Congenital Amaurosis 5, also known as lca5, is related to leber congenital amaurosis and retinitis pigmentosa. An important gene associated with Leber Congenital Amaurosis 5 is LCA5 (Lebercilin LCA5). Affiliated tissues include retina and eye, and related phenotypes are nystagmus and visual impairment

Disease Ontology : ¹² A Leber congenital amaurosis that is characterized by severe visual dysfunction, nystagmus, the oculodigital sign, and a normal fundus with onset in infancy and has material basis in mutation in the LCA5 gene on chromosome 6q14.1.

Description from OMIM: 604537

Clinical features from OMIM:

604537

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability of wild-type and TP53 knockout cells	GR00196-A-1	8.62	LCA5 LCA5L

Search Clinical Trials , NIH Clinical Center for Leber Congenital Amaurosis 5

Search GEO for disease gene expression data for Leber Congenital Amaurosis 5.