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MCID: LBR015
MIFTS: 26
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Leber Congenital Amaurosis 5
Categories:
Genetic diseases, Rare diseases, Eye diseases, Neuronal diseases
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MalaCards integrated aliases for Leber Congenital Amaurosis 5:
Characteristics:HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Eye diseases Neuronal diseases
ICD10:
33
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UniProtKB/Swiss-Prot
:
75
Leber congenital amaurosis 5: 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.
MalaCards based summary : Leber Congenital Amaurosis 5, also known as lca5, is related to leber congenital amaurosis and retinitis pigmentosa. An important gene associated with Leber Congenital Amaurosis 5 is LCA5 (LCA5, Lebercilin). Affiliated tissues include retina and eye, and related phenotypes are visual impairment and hypermetropia Disease Ontology : 12 A Leber congenital amaurosis that is characterized by severe visual dysfunction, nystagmus, the oculodigital sign, and a normal fundus with onset in infancy and has material basis in mutation in the LCA5 gene on chromosome 6q14.1.
Description from OMIM:
604537
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Human phenotypes related to Leber Congenital Amaurosis 5:32
GenomeRNAi Phenotypes related to Leber Congenital Amaurosis 5 according to GeneCards Suite gene sharing:26
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MalaCards organs/tissues related to Leber Congenital Amaurosis 5:41
Retina,
Eye
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Genes related to Leber Congenital Amaurosis 5 (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Leber Congenital Amaurosis 5:6
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Search
GEO
for disease gene expression data for Leber Congenital Amaurosis 5.
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