Leber Congenital Amaurosis 14

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OMIM 57 613341 Disease Ontology 12 DOID:0110188 ICD10 33 H35.5 MedGen 42 C2750063 C2750064 C2750065

MeSH 44 D057130 SNOMED-CT via HPO 69 258211005 28835009 302200001 246622003 409668002 563001 65194006 398979000 161898004 1912002 13164000 95486002 more UMLS 73 C2750063

OMIM : ⁵⁷ Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis, whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa (Gu et al., 1997). For a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis, see LCA1 (204000); for retinitis pigmentosa, see 268000. (613341)

MalaCards based summary : Leber Congenital Amaurosis 14, also known as lca14, is related to stargardt disease 1 and severe early-childhood-onset retinal dystrophy, and has symptoms including photophobia An important gene associated with Leber Congenital Amaurosis 14 is LRAT (Lecithin Retinol Acyltransferase). Affiliated tissues include retina, bone and eye, and related phenotypes are rod-cone dystrophy and optic disc pallor

UniProtKB/Swiss-Prot : ⁷⁵ Leber congenital amaurosis 14: 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.

Disease Ontology : ¹² A Leber congenital amaurosis that has material basis in mutation in the LRAT gene on chromosome 4q31.

Clinical features from OMIM:

613341

Search Clinical Trials , NIH Clinical Center for Leber Congenital Amaurosis 14

Search GEO for disease gene expression data for Leber Congenital Amaurosis 14.