LCA19
MCID: LBR034
MIFTS: 20
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Leber Congenital Amaurosis 19 (LCA19)
Categories:
Eye diseases, Genetic diseases, Neuronal diseases
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MalaCards integrated aliases for Leber Congenital Amaurosis 19:Characteristics:Inheritance:
Autosomal recessive 57
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
onset of symptoms in early childhood based on report of 1 patient (last curated july 2019) Classifications: |
UniProtKB/Swiss-Prot: 73 A form of Leber congenital amaurosis, 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. LCA19 is an autosomal recessive form characterized by reduced vision in early childhood and severely reduced responses of both rods and cones. MalaCards based summary: Leber Congenital Amaurosis 19, is also known as lca19. An important gene associated with Leber Congenital Amaurosis 19 is USP45 (Ubiquitin Specific Peptidase 45). Affiliated tissues include retina, and related phenotypes are nystagmus and optic disc pallor OMIM®: 57 Leber congenital amaurosis-19 (LCA19) is characterized by reduced vision in early childhood and severely reduced responses of both rods and cones on electroretinography (Yi et al., 2019). For a general description and a discussion of genetic heterogeneity of LCA, see 204000. (618513) (Updated 08-Dec-2022) Disease Ontology: 11 A Leber congenital amaurosis that has material basis in mutation in the USP45 gene on chromosome 6q16. |
Human phenotypes related to Leber Congenital Amaurosis 19:30 (show all 6)
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Organs/tissues related to Leber Congenital Amaurosis 19:
MalaCards :
Retina
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Articles related to Leber Congenital Amaurosis 19:
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ClinVar genetic disease variations for Leber Congenital Amaurosis 19:5
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Search
GEO
for disease gene expression data for Leber Congenital Amaurosis 19.
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