LCA
MCID: LBR033
MIFTS: 23

Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy (LCA)

Aliases & Classifications for Leber Congenital Amaurosis / Early-Onset Severe Retinal...

MalaCards integrated aliases for Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy:

Name: Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy 25
Eosrd 25
Lca 25

Summaries for Leber Congenital Amaurosis / Early-Onset Severe Retinal...

MalaCards based summary : Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy, also known as eosrd, is related to leber congenital amaurosis 8 and senior-loken syndrome 1. An important gene associated with Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy is RPE65 (Retinoid Isomerohydrolase RPE65), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Visual Cycle in Retinal Rods. Affiliated tissues include eye, retina and pituitary, and related phenotypes are nervous system and pigmentation

GeneReviews: NBK531510

Related Diseases for Leber Congenital Amaurosis / Early-Onset Severe Retinal...

Diseases in the Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy family:

Rpe65-Related Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy

Diseases related to Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 106)
# Related Disease Score Top Affiliating Genes
1 leber congenital amaurosis 8 31.5 RPE65 AIPL1
2 senior-loken syndrome 1 31.2 RPE65 CEP290 AIPL1
3 leber congenital amaurosis 6 31.1 CEP290 AIPL1
4 leber congenital amaurosis 9 31.1 RPE65 CEP290 AIPL1
5 leber congenital amaurosis 4 31.1 RPE65 CEP290 AIPL1
6 leber congenital amaurosis 2 31.1 RPE65 CEP290 AIPL1
7 leber congenital amaurosis 1 31.0 RPE65 CLUAP1 CEP290 AIPL1
8 retinal degeneration 29.9 RPE65 CEP290 AIPL1
9 cone-rod dystrophy 6 29.9 RPE65 CABP4
10 yemenite deaf-blind hypopigmentation syndrome 29.8 RPE65 CEP290 AIPL1
11 leber congenital amaurosis 15 29.7 CLUAP1 AIPL1
12 pathologic nystagmus 29.6 RPE65 CEP290 CABP4 AIPL1
13 leber congenital amaurosis 13 29.5 CEP290 AIPL1
14 leber congenital amaurosis 3 29.4 RPE65 CEP290 AIPL1
15 leber plus disease 29.3 RPE65 CLUAP1 CEP290 CABP4 ALMS1 AIPL1
16 fundus dystrophy 29.2 RPE65 CLUAP1 CEP290 CABP4 ALMS1 AIPL1
17 leber congenital amaurosis 10 29.2 RPE65 CEP290 AIPL1
18 nephronophthisis 29.2 CLUAP1 CEP290 ALMS1
19 retinal disease 29.2 RPE65 CEP290 CABP4 ALMS1 AIPL1
20 night blindness 29.1 RPE65 CEP290 CABP4
21 cone-rod dystrophy 2 28.8 RPE65 CEP290 CABP4 ALMS1 AIPL1
22 retinitis pigmentosa 28.7 RPE65 CEP290 CABP4 ALMS1 AIPL1
23 congenital stationary night blindness 28.7 RPE65 CEP290 CABP4 AIPL1
24 cone dystrophy 28.7 RPE65 CEP290 CABP4 AIPL1
25 joubert syndrome 1 28.3 RPE65 CLUAP1 CEP290 ALMS1 AIPL1
26 rpe65-related leber congenital amaurosis / early-onset severe retinal dystrophy 11.6
27 littoral cell angioma of the spleen 11.3
28 arima syndrome 11.0
29 severe early-childhood-onset retinal dystrophy 11.0
30 anomalous left coronary artery from the pulmonary artery 10.9
31 leber congenital amaurosis 7 10.9
32 senior-loken syndrome 5 10.9
33 leber congenital amaurosis 11 10.9
34 leber congenital amaurosis 19 10.9
35 inherited retinal disorder 10.7
36 learning disability 10.4
37 leber congenital amaurosis 12 10.1 RPE65 AIPL1
38 leber congenital amaurosis 5 10.1
39 exotropia 10.1 RPE65 AIPL1
40 color blindness 10.1 RPE65 AIPL1
41 choroidal dystrophy, central areolar, 1 10.0 RPE65 AIPL1
42 cholestasis 10.0
43 retinitis pigmentosa 12 9.9
44 orthostatic intolerance 9.9
45 b-lymphoblastic leukemia/lymphoma 9.9
46 neuroretinitis 9.9
47 retinitis 9.9
48 benign idiopathic neonatal seizures 9.9
49 juvenile nephronophthisis 9.9
50 usher syndrome, type iiia 9.9 RPE65 AIPL1

Graphical network of the top 20 diseases related to Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy:



Diseases related to Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy

Symptoms & Phenotypes for Leber Congenital Amaurosis / Early-Onset Severe Retinal...

MGI Mouse Phenotypes related to Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.63 AIPL1 ALMS1 CABP4 CEP290 CLUAP1 RPE65
2 pigmentation MP:0001186 9.13 ALMS1 CEP290 RPE65
3 vision/eye MP:0005391 9.02 AIPL1 ALMS1 CABP4 CEP290 RPE65

Drugs & Therapeutics for Leber Congenital Amaurosis / Early-Onset Severe Retinal...

Search Clinical Trials , NIH Clinical Center for Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy

Genetic Tests for Leber Congenital Amaurosis / Early-Onset Severe Retinal...

Anatomical Context for Leber Congenital Amaurosis / Early-Onset Severe Retinal...

MalaCards organs/tissues related to Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy:

40
Eye, Retina, Pituitary, Spleen, Kidney, Liver, Breast

Publications for Leber Congenital Amaurosis / Early-Onset Severe Retinal...

Articles related to Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy:

(show all 50)
# Title Authors PMID Year
1
Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions. 25 61
28689169 2017
2
A NOVEL CASE SERIES OF NMNAT1-ASSOCIATED EARLY-ONSET RETINAL DYSTROPHY: EXTENDING THE PHENOTYPIC SPECTRUM. 25
30004997 2021
3
Results at 5 Years After Gene Therapy for RPE65-Deficient Retinal Dystrophy. 25
29869534 2018
4
A Cross-Sectional and Longitudinal Study of Retinal Sensitivity in RPE65-Associated Leber Congenital Amaurosis. 25
30025081 2018
5
Safety and Long-Term Efficacy of AAV4 Gene Therapy in Patients with RPE65 Leber Congenital Amaurosis. 25
29033008 2018
6
Severe Loss of Tritan Color Discrimination in RPE65 Associated Leber Congenital Amaurosis. 25
29332120 2018
7
Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial. 25
28712537 2017
8
Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1. 25
26820066 2016
9
Results at 2 Years after Gene Therapy for RPE65-Deficient Leber Congenital Amaurosis and Severe Early-Childhood-Onset Retinal Dystrophy. 25
27102010 2016
10
Timing, rates and spectra of human germline mutation. 25
26656846 2016
11
Mutations in human IFT140 cause non-syndromic retinal degeneration. 25
26216056 2015
12
Long-term effect of gene therapy on Leber's congenital amaurosis. 25
25938638 2015
13
Improvement and decline in vision with gene therapy in childhood blindness. 25
25936984 2015
14
Preserved outer retina in AIPL1 Leber's congenital amaurosis: implications for gene therapy. 25
25596619 2015
15
Three-year follow-up after unilateral subretinal delivery of adeno-associated virus in patients with Leber congenital Amaurosis type 2. 25
23474247 2013
16
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. 25
23105016 2013
17
Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants. 25
23035049 2013
18
IQCB1 mutations in patients with leber congenital amaurosis. 25
20881296 2011
19
RDH12 retinopathy: novel mutations and phenotypic description. 25
22065924 2011
20
A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype. 25
20157620 2010
21
A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction. 25
19956411 2009
22
Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial. 25
18774912 2008
23
Effect of gene therapy on visual function in Leber's congenital amaurosis. 25
18441371 2008
24
Safety and efficacy of gene transfer for Leber's congenital amaurosis. 25
18441370 2008
25
Evidence of autosomal dominant Leber congenital amaurosis (LCA) underlain by a CRX heterozygous null allele. 25
12843339 2003
26
Dominant Leber congenital amaurosis, cone-rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX. 25
11748842 2001
27
Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function. 25
9931337 1999
28
Retinal degenerations with truncation mutations in the cone-rod homeobox (CRX) gene. 25
9804150 1998
29
A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene. 25
9792858 1998
30
Extending the phenotypic spectrum of PRPF8, PRPH2, RP1 and RPGR, and the genotypic spectrum of early-onset severe retinal dystrophy. 61
33712029 2021
31
Leber congenital amaurosis/early-onset severe retinal dystrophy: current management and clinical trials. 61
33712480 2021
32
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy. 61
31630094 2020
33
Detailed clinical characterisation, unique features and natural history of autosomal recessive RDH12-associated retinal degeneration. 61
30979730 2019
34
Development of a Gene Therapy Vector for RDH12-Associated Retinal Dystrophy. 61
31237438 2019
35
RPE65-Related Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy 61
31725251 2019
36
Choroidal neovascularization in an adolescent with RDH12-associated retinal degeneration. 61
31424981 2019
37
Correction: Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions. 61
31138590 2019
38
Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview 61
30285347 2018
39
[Genotype-Phenotype Correlations in Patients with CRB1 Mutations]. 61
28355663 2017
40
Spatially Resolved Spectral Sensitivities as a Potential Read-out Parameter in Clinical Gene Therapeutic Trials. 61
28697496 2017
41
De novo mutations in the cone-rod homeobox gene associated with leber congenital amaurosis in Chinese patients. 61
24001014 2015
42
A novel mutation in the RPE65 gene causing Leber congenital amaurosis and its transcriptional expression in vitro. 61
25383945 2014
43
Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy. 61
22531706 2012
44
A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype. 61
20130272 2010
45
An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy. 61
18055820 2007
46
Fundus autofluorescence in children and teenagers with hereditary retinal diseases. 61
16034607 2006
47
Longitudinal and cross-sectional study of patients with early-onset severe retinal dystrophy associated with RPE65 mutations. 61
15565294 2005
48
Lack of fundus autofluorescence to 488 nanometers from childhood on in patients with early-onset severe retinal dystrophy associated with mutations in RPE65. 61
15288992 2004
49
Recent advances in early-onset severe retinal degeneration: more than just basic research. 61
15106616 2004
50
Analysis of three genes in Leber congenital amaurosis in Indonesian patients. 61
14611946 2003

Variations for Leber Congenital Amaurosis / Early-Onset Severe Retinal...

Expression for Leber Congenital Amaurosis / Early-Onset Severe Retinal...

Search GEO for disease gene expression data for Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy.

Pathways for Leber Congenital Amaurosis / Early-Onset Severe Retinal...

Pathways related to Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.53 CLUAP1 CEP290 ALMS1
2 10.93 RPE65 CABP4

GO Terms for Leber Congenital Amaurosis / Early-Onset Severe Retinal...

Cellular components related to Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 centrosome GO:0005813 9.33 CLUAP1 CEP290 ALMS1
2 centriole GO:0005814 9.26 CEP290 ALMS1
3 cilium GO:0005929 9.13 CLUAP1 CEP290 ALMS1
4 cell projection GO:0042995 8.92 CLUAP1 CEP290 CABP4 ALMS1

Biological processes related to Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 G2/M transition of mitotic cell cycle GO:0000086 9.32 CEP290 ALMS1
2 ciliary basal body-plasma membrane docking GO:0097711 9.26 CEP290 ALMS1
3 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.16 CEP290 ALMS1
4 retina homeostasis GO:0001895 8.96 RPE65 AIPL1
5 visual perception GO:0007601 8.8 RPE65 CABP4 AIPL1

Sources for Leber Congenital Amaurosis / Early-Onset Severe Retinal...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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45 MESH via Orphanet
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49 NCI
50 NCIt
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54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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