Leber Congenital Amaurosis 11

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OMIM 57 613837 Disease Ontology 12 DOID:0110216 ICD10 33 H35.5 MedGen 42 C1840284

MeSH 44 D057130 SNOMED-CT via HPO 69 263681008 246635007 397540003 7973008 563001 more UMLS 73 C1840284

OMIM : ⁵⁷ Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by Chung and Traboulsi, 2009). For a general description and a discussion of genetic heterogeneity of LCA, see 204000. (613837)

MalaCards based summary : Leber Congenital Amaurosis 11, is also known as lca11. An important gene associated with Leber Congenital Amaurosis 11 is IMPDH1 (Inosine Monophosphate Dehydrogenase 1). Affiliated tissues include retina and eye, and related phenotypes are visual impairment and nystagmus

Disease Ontology : ¹² A Leber congenital amaurosis that has material basis in mutation n the IMPDH1 gene on chromosome 7q31.3-q32.

UniProtKB/Swiss-Prot : ⁷⁵ Leber congenital amaurosis 11: 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:

613837

Search Clinical Trials , NIH Clinical Center for Leber Congenital Amaurosis 11

Search GEO for disease gene expression data for Leber Congenital Amaurosis 11.