LCA5
MCID: LBR015
MIFTS: 30

Leber Congenital Amaurosis 5 (LCA5)

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

Aliases & Classifications for Leber Congenital Amaurosis 5

MalaCards integrated aliases for Leber Congenital Amaurosis 5:

Name: Leber Congenital Amaurosis 5 58 12 54 76 30 13 6 15 74
Lca5 58 12 54 76
Amaurosis Congenita of Leber, Type 5 54
Leber Congenital Amaurosis, Type 5 41
Leber Congenital Amaurosis Type 5 54

Characteristics:

HPO:

33
leber congenital amaurosis 5:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110215
OMIM 58 604537
MeSH 45 D057130
ICD10 34 H35.5
MedGen 43 C1858301
UMLS 74 C1858301

Summaries for Leber Congenital Amaurosis 5

UniProtKB/Swiss-Prot : 76 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 (Lebercilin LCA5). Affiliated tissues include retina and eye, and related phenotypes are nystagmus and visual impairment

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

Related Diseases for Leber Congenital Amaurosis 5

Graphical network of the top 20 diseases related to Leber Congenital Amaurosis 5:



Diseases related to Leber Congenital Amaurosis 5

Symptoms & Phenotypes for Leber Congenital Amaurosis 5

Human phenotypes related to Leber Congenital Amaurosis 5:

33
# Description HPO Frequency HPO Source Accession
1 nystagmus 33 HP:0000639
2 visual impairment 33 HP:0000505
3 hypermetropia 33 HP:0000540
4 undetectable electroretinogram 33 HP:0000550

Clinical features from OMIM:

604537

GenomeRNAi Phenotypes related to Leber Congenital Amaurosis 5 according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability of wild-type and TP53 knockout cells GR00196-A-1 8.62 LCA5 LCA5L

Drugs & Therapeutics for Leber Congenital Amaurosis 5

Search Clinical Trials , NIH Clinical Center for Leber Congenital Amaurosis 5

Genetic Tests for Leber Congenital Amaurosis 5

Genetic tests related to Leber Congenital Amaurosis 5:

# Genetic test Affiliating Genes
1 Leber Congenital Amaurosis 5 30 LCA5

Anatomical Context for Leber Congenital Amaurosis 5

MalaCards organs/tissues related to Leber Congenital Amaurosis 5:

42
Retina, Eye

Publications for Leber Congenital Amaurosis 5

Articles related to Leber Congenital Amaurosis 5:

(show all 17)
# Title Authors Year
1
A Chinese family with autosomal recessive congenital ichthyosis and Leber congenital amaurosis due to mutations in PNPLA1 and LCA5. ( 29400301 )
2018
2
Next-generation Sequencing Extends the Phenotypic Spectrum for LCA5 Mutations: Novel LCA5 Mutations in Cone Dystrophy. ( 27067258 )
2016
3
Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population. ( 24144451 )
2014
4
Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations. ( 23946133 )
2013
5
Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts. ( 21850168 )
2011
6
Novel human pathological mutations. Gene symbol: LCA5. Disease: Leber Congenital Amaurosis (LCA). ( 20108395 )
2010
7
Novel human pathological mutations. Gene symbol: LCA5. Disease: Leber congenital amaurosis. ( 21488265 )
2010
8
LCA5, a rare genetic cause of leber congenital amaurosis in Koreans. ( 19172513 )
2009
9
Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: retained photoreceptors adjacent to retinal disorganization. ( 19503738 )
2009
10
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. ( 19800048 )
2009
11
Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis. ( 18334959 )
2008
12
Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. ( 17546029 )
2007
13
Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II. ( 18000884 )
2007
14
Exclusion of LCA5 locus in a consanguineous Turkish family with macular coloboma-type LCA. ( 16082399 )
2006
15
Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles. ( 16123401 )
2005
16
Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus. ( 12642313 )
2003
17
A novel locus for Leber congenital amaurosis maps to chromosome 6q. ( 10631161 )
2000

Variations for Leber Congenital Amaurosis 5

ClinVar genetic disease variations for Leber Congenital Amaurosis 5:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LCA5 NM_181714.3(LCA5): c.1151delC (p.Pro384Glnfs) deletion Pathogenic rs386834252 GRCh37 Chromosome 6, 80198881: 80198881
2 LCA5 NM_181714.3(LCA5): c.1151delC (p.Pro384Glnfs) deletion Pathogenic rs386834252 GRCh38 Chromosome 6, 79489164: 79489164
3 LCA5 NM_181714.3(LCA5): c.1476dupA (p.Pro493Thrfs) duplication Pathogenic rs386834253 GRCh37 Chromosome 6, 80197339: 80197339
4 LCA5 NM_181714.3(LCA5): c.1476dupA (p.Pro493Thrfs) duplication Pathogenic rs386834253 GRCh38 Chromosome 6, 79487622: 79487622
5 LCA5 NM_181714.3(LCA5): c.835C> T (p.Gln279Ter) single nucleotide variant Pathogenic rs121918165 GRCh37 Chromosome 6, 80203353: 80203353
6 LCA5 NM_181714.3(LCA5): c.835C> T (p.Gln279Ter) single nucleotide variant Pathogenic rs121918165 GRCh38 Chromosome 6, 79493636: 79493636
7 LCA5 NM_181714.3(LCA5): c.-1688_-298+207del1598 deletion Pathogenic GRCh37 Chromosome 6, 80246626: 80248223
8 LCA5 NM_181714.3(LCA5): c.-1688_-298+207del1598 deletion Pathogenic GRCh38 Chromosome 6, 79536909: 79538506

Expression for Leber Congenital Amaurosis 5

Search GEO for disease gene expression data for Leber Congenital Amaurosis 5.

Pathways for Leber Congenital Amaurosis 5

GO Terms for Leber Congenital Amaurosis 5

Cellular components related to Leber Congenital Amaurosis 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axoneme GO:0005930 8.62 LCA5 LCA5L

Biological processes related to Leber Congenital Amaurosis 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intraciliary transport GO:0042073 8.62 LCA5 LCA5L

Sources for Leber Congenital Amaurosis 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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