Leber Congenital Amaurosis 15 (LCA15)

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Disease Ontology 12 DOID:0110189 OMIM 58 613843 MeSH 45 D057130 ICD10 34 H35.5

MedGen 43 C3151206 SNOMED-CT via HPO 70 1151008 23289000 258211005 267628004 28835009 29555009 302200001 367469000 38101003 57190000 64635004 65194006 95695004 more UMLS 74 C3151206

OMIM : ⁵⁸ 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 (summary by Gu et al., 1997). Mutation in TULP1 can also cause a form of autosomal recessive retinitis pigmentosa (RP14; 600132). For a general phenotypic description and a discussion of the genetic heterogeneity of Leber congenital amaurosis, see LCA1 (204000); for retinitis pigmentosa, see 268000. (613843)

MalaCards based summary : Leber Congenital Amaurosis 15, is also known as lca15. An important gene associated with Leber Congenital Amaurosis 15 is TULP1 (Tubby Like Protein 1). Affiliated tissues include retina and eye, and related phenotypes are hypermetropia and retinopathy

Disease Ontology : ¹² A Leber congenital amaurosis that has material basis in mutation in the TULP1 gene on chromosome 6p21.3.

UniProtKB/Swiss-Prot : ⁷⁶ Leber congenital amaurosis 15: 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.

Clinical features from OMIM:

613843

Search Clinical Trials , NIH Clinical Center for Leber Congenital Amaurosis 15

Search GEO for disease gene expression data for Leber Congenital Amaurosis 15.