LCA19
MCID: LBR034
MIFTS: 15

Leber Congenital Amaurosis 19 (LCA19)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Leber Congenital Amaurosis 19

MalaCards integrated aliases for Leber Congenital Amaurosis 19:

Name: Leber Congenital Amaurosis 19 57 6
Lca19 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset of symptoms in early childhood
based on report of 1 patient (last curated july 2019)


Classifications:



External Ids:

Summaries for Leber Congenital Amaurosis 19

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)

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).

Related Diseases for Leber Congenital Amaurosis 19

Symptoms & Phenotypes for Leber Congenital Amaurosis 19

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
pale optic disc
reduced vision
attenuated retinal arteries
retinal degeneration, carpet-like, in midperiphery
more

Clinical features from OMIM:

618513

Drugs & Therapeutics for Leber Congenital Amaurosis 19

Search Clinical Trials , NIH Clinical Center for Leber Congenital Amaurosis 19

Genetic Tests for Leber Congenital Amaurosis 19

Anatomical Context for Leber Congenital Amaurosis 19

Publications for Leber Congenital Amaurosis 19

Articles related to Leber Congenital Amaurosis 19:

# Title Authors PMID Year
1
Biallelic mutations in USP45, encoding a deubiquitinating enzyme, are associated with Leber congenital amaurosis. 8 71
30573563 2019
2
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. 71
23105016 2013
3
Genetics and molecular basis of human peroxisome biogenesis disorders. 71
22871920 2012
4
Leber Congenital Amaurosis 71
20301475 2004
5
Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotype. 71
10384394 1999
6
Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. 71
9398847 1997
7
Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders. 71
9398848 1997

Variations for Leber Congenital Amaurosis 19

ClinVar genetic disease variations for Leber Congenital Amaurosis 19:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 USP45 NM_001346024.2(USP45): c.934-3481G> A single nucleotide variant Pathogenic 6:99916493-99916493 6:99468617-99468617

Expression for Leber Congenital Amaurosis 19

Search GEO for disease gene expression data for Leber Congenital Amaurosis 19.

Pathways for Leber Congenital Amaurosis 19

GO Terms for Leber Congenital Amaurosis 19

Sources for Leber Congenital Amaurosis 19

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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