MCID: LBR015
MIFTS: 26

Leber Congenital Amaurosis 5

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

Aliases & Classifications for Leber Congenital Amaurosis 5

MalaCards integrated aliases for Leber Congenital Amaurosis 5:

Name: Leber Congenital Amaurosis 5 57 12 53 75 29 13 6 15 73
Lca5 57 12 53 75
Amaurosis Congenita of Leber, Type 5 53
Leber Congenital Amaurosis, Type 5 40
Leber Congenital Amaurosis Type 5 53

Characteristics:

HPO:

32
leber congenital amaurosis 5:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 604537
Disease Ontology 12 DOID:0110215
ICD10 33 H35.5
MedGen 42 C1858301
MeSH 44 D057130
UMLS 73 C1858301

Summaries for Leber Congenital Amaurosis 5

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

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

Clinical features from OMIM:

604537

Human phenotypes related to Leber Congenital Amaurosis 5:

32
# Description HPO Frequency HPO Source Accession
1 visual impairment 32 HP:0000505
2 hypermetropia 32 HP:0000540
3 undetectable electroretinogram 32 HP:0000550
4 nystagmus 32 HP:0000639

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability of wild-type and TP53 knockout cells, decreased TP53 protein expression ratio (wild-type / 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 29 LCA5

Anatomical Context for Leber Congenital Amaurosis 5

MalaCards organs/tissues related to Leber Congenital Amaurosis 5:

41
Retina, Eye

Publications for Leber Congenital Amaurosis 5

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
9 LCA5 NM_181714.3(LCA5): c.1062C> G (p.Tyr354Ter) single nucleotide variant Pathogenic rs183261547 GRCh37 Chromosome 6, 80201341: 80201341
10 LCA5 NM_181714.3(LCA5): c.1062C> G (p.Tyr354Ter) single nucleotide variant Pathogenic rs183261547 GRCh38 Chromosome 6, 79491624: 79491624

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

Sources for Leber Congenital Amaurosis 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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