LCA11
MCID: LBR006
MIFTS: 35
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Leber Congenital Amaurosis 11 (LCA11)
Categories:
Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Leber Congenital Amaurosis 11:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant
Miscellaneous:
based on report of 2 unrelated patients (last curated january 2019) onset within the first few years of life HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Eye diseases
ICD10:
32
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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) (Updated 05-Mar-2021)
MalaCards based summary : Leber Congenital Amaurosis 11, also known as lca11, is related to severe early-childhood-onset retinal dystrophy and cone-rod dystrophy 8. 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 nystagmus and visual impairment 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 : 73 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. |
Human phenotypes related to Leber Congenital Amaurosis 11:31
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MalaCards organs/tissues related to Leber Congenital Amaurosis 11:40
Retina,
Eye
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Articles related to Leber Congenital Amaurosis 11:
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ClinVar genetic disease variations for Leber Congenital Amaurosis 11:6 (show top 50) (show all 81)
UniProtKB/Swiss-Prot genetic disease variations for Leber Congenital Amaurosis 11:73
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Search
GEO
for disease gene expression data for Leber Congenital Amaurosis 11.
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Cellular components related to Leber Congenital Amaurosis 11 according to GeneCards Suite gene sharing:
Biological processes related to Leber Congenital Amaurosis 11 according to GeneCards Suite gene sharing:
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