Leber Congenital Amaurosis 15

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OMIM 57 613843 Disease Ontology 12 DOID:0110189 ICD10 33 H35.5 MedGen 42 C3151206

MeSH 44 D057130 SNOMED-CT via HPO 69 258211005 246635007 397540003 7973008 28835009 38101003 302200001 57190000 95695004 23289000 367469000 65194006 1151008 267628004 64635004 more UMLS 73 C3151206

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 (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 visual impairment and rod-cone dystrophy

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

UniProtKB/Swiss-Prot : ⁷⁵ 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.