MCID: LBR001
MIFTS: 65

Leber Congenital Amaurosis

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

Aliases & Classifications for Leber Congenital Amaurosis

MalaCards integrated aliases for Leber Congenital Amaurosis:

Name: Leber Congenital Amaurosis 37 12 23 49 24 55 36 28 41 14 69
Lca 12 23 49 24
Leber's Amaurosis 12 49 24
Congenital Amaurosis of Retinal Origin 24 69
Congenital Retinal Blindness 49 24
Leber's Disease 12 72
Leber's Congenital Tapetoretinal Degeneration 49
Leber Congenital Tapetoretinal Degeneration 24
Leber's Congenital Tapetoretinal Dysplasia 49
Hereditary Epithelial Dysplasia of Retina 24
Congenital Absence of the Rods and Cones 49
Amaurosis Congenita of Leber, Type 1 69
Dysgenesis Neuroepithelialis Retinae 24
Optic Atrophy, Hereditary, Leber 69
Heredoretinopathia Congenitalis 24
Leber's Congenital Amaurosis 12
Amaurosis Congenita of Leber 55
Amaurosis, Leber Congenital 24
Lebers Congenital Amaurosis 51
Hereditary Retinal Aplasia 24
Leber Abiotrophy 24
Crb 24

Characteristics:

Orphanet epidemiological data:

55
leber congenital amaurosis
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/100000 (Europe),1-9/100000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 55  
Rare eye diseases


Summaries for Leber Congenital Amaurosis

NIH Rare Diseases : 49 Leber congenital amaurosis (LCA) is an eye disorder that primarily affects the retina. People with this condition typically have severe visual impairment beginning in infancy. Other features include photophobia, involuntary movements of the eyes (nystagmus), and extreme farsightedness. The pupils also do not react normally to light. Additionally, the cornea may be cone-shaped and abnormally thin (keratoconus). Franceschetti's oculo-digital sign is characteristic of Leber congenital amaurosis. This sign consists of poking, pressing, and rubbing the eyes with a knuckle or finger. Different subtypes have been described. The different subtypes are caused by mutations in different genes. Some of these subtypes are also distinguished by their patterns of vision loss and related eye abnormalities. Treatment includes correction farsightedness and use of low-vision aids when possible. Last updated: 3/27/2017

MalaCards based summary : Leber Congenital Amaurosis, also known as lca, is related to leber congenital amaurosis 10 and leber congenital amaurosis 4, and has symptoms including hearing impairment, abnormal electroretinogram and cataract. An important gene associated with Leber Congenital Amaurosis is CRB1 (Crumbs 1, Cell Polarity Complex Component), and among its related pathways/superpathways are Purine metabolism and Retinol metabolism. The drugs cysteine and acetic acid have been mentioned in the context of this disorder. Affiliated tissues include Eye and Eye, and related phenotypes are Increased HPV16-GFP infection and nervous system

Disease Ontology : 12 A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness.

Genetics Home Reference : 24 Leber congenital amaurosis is an eye disorder that primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this disorder typically have severe visual impairment beginning in infancy. The visual impairment tends to be stable, although it may worsen very slowly over time.

Wikipedia : 72 Leber\'s hereditary optic neuropathy (LHON) or Leber hereditary optic atrophy is a mitochondrially... more...

GeneReviews: NBK1298

Related Diseases for Leber Congenital Amaurosis

Diseases in the Leber Congenital Amaurosis family:

Leber Congenital Amaurosis 1 Leber Congenital Amaurosis 2
Leber Congenital Amaurosis 3 Leber Congenital Amaurosis 4
Leber Congenital Amaurosis 5 Leber Congenital Amaurosis 9
Leber Congenital Amaurosis 12 Leber Congenital Amaurosis 10
Leber Congenital Amaurosis 13 Leber Congenital Amaurosis 14
Leber Congenital Amaurosis 6 Leber Congenital Amaurosis 7
Leber Congenital Amaurosis 8 Leber Congenital Amaurosis 11
Leber Congenital Amaurosis 15 Leber Congenital Amaurosis 16
Leber Congenital Amaurosis 17

Diseases related to Leber Congenital Amaurosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 68)
# Related Disease Score Top Affiliating Genes
1 leber congenital amaurosis 10 35.3 CEP290 IQCB1 RPE65
2 leber congenital amaurosis 4 35.3 AIPL1 CRX GUCY2D PDE6A RPE65
3 leber congenital amaurosis 12 35.2 CEP290 GUCY2D RPE65
4 leber congenital amaurosis 3 35.2 LCA5 RDH12 RPGRIP1 SPATA7
5 leber congenital amaurosis 9 35.2 AIPL1 CRB1 CRX GUCY2D LCA5 NMNAT1
6 senior-loken syndrome 1 33.4 AHI1 CEP290 IQCB1
7 retinitis 32.3 IMPDH1 RP2 RPE65 RPGRIP1
8 retinal degeneration 31.7 AIPL1 CRB1 CRX GUCY2D RP2 RPE65
9 retinitis pigmentosa 31.7 AHI1 AIPL1 CEP290 CRB1 CRX GUCY2D
10 keratoconus 31.6 AIPL1 CRB1 CRX GUCY2D RPE65
11 cone-rod dystrophy 2 31.6 AIPL1 CNGB3 CRB1 CRX GUCY2D RPE65
12 severe early-childhood-onset retinal dystrophy 31.4 LCA5 LRAT RPE65 SPATA7
13 retinal disease 31.1 AIPL1 CEP290 CNGB3 CRB1 CRX GUCY2D
14 stargardt disease 31.1 CNGB3 CRB1 LRAT RDH12 RPE65
15 joubert syndrome 1 31.0 AHI1 CEP290 IQCB1 LCA5 RPGRIP1
16 nephronophthisis 31.0 AHI1 CEP290 IQCB1 RPGRIP1
17 leber congenital amaurosis 2 12.7
18 leber congenital amaurosis 1 12.7
19 leber congenital amaurosis 5 12.7
20 leber congenital amaurosis 16 12.7
21 leber congenital amaurosis 15 12.6
22 leber congenital amaurosis 6 12.6
23 leber congenital amaurosis 14 12.6
24 leber congenital amaurosis 8 12.6
25 leber congenital amaurosis 11 12.6
26 leber congenital amaurosis 7 12.6
27 leber congenital amaurosis 13 12.6
28 leber congenital amaurosis 17 12.5
29 retinitis pigmentosa 7 11.9
30 leber hereditary optic neuropathy 11.2
31 nystagmus 1, congenital, x-linked 11.1
32 senior-loken syndrome 5 11.1
33 nephronophthisis 14 11.1
34 nephronophthisis 15 11.1
35 joubert syndrome with oculorenal anomalies 11.1
36 hereditary retinal dystrophy 10.8 CEP290 GUCY2D LCA5 SPATA7
37 yemenite deaf-blind hypopigmentation syndrome 10.8 AIPL1 CEP290 RPE65
38 prolonged electroretinal response suppression 10.8 CRB1 CRX GUCY2D
39 achromatopsia 3 10.8 AIPL1 CNGB3 CRB1 CRX GUCY2D RPE65
40 rhyns syndrome 10.8 CRB1 CRX PDE6A RDH12 RPE65 TULP1
41 congenital stationary night blindness 10.7 AIPL1 CNGB3 GUCY2D RPE65
42 retinoschisis 1, x-linked, juvenile 10.7 CNGB3 CRX RPE65
43 senior-løken syndrome 10.7 CEP290 IQCB1
44 choroideremia 10.7 CNGB3 GUCY2D RPE65
45 macular dystrophy, dominant cystoid 10.7 CRB1 PDE6A
46 meckel syndrome, type 1 10.7 AHI1 CEP290 RPGRIP1
47 eye degenerative disease 10.7 GUCY2D SPATA7
48 cone-rod dystrophy 6 10.7 CNGB3 GUCY2D
49 choroid disease 10.6 CNGB3 RPE65
50 fundus dystrophy 10.6 AHI1 AIPL1 CEP290 CNGB3 CRB1 CRX

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



Diseases related to Leber Congenital Amaurosis

Symptoms & Phenotypes for Leber Congenital Amaurosis

Human phenotypes related to Leber Congenital Amaurosis:

55 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000365
2 abnormal electroretinogram 55 31 frequent (33%) Frequent (79-30%) HP:0000512
3 cataract 55 31 frequent (33%) Frequent (79-30%) HP:0000518
4 keratoconus 55 31 frequent (33%) Frequent (79-30%) HP:0000563
5 nystagmus 55 31 frequent (33%) Frequent (79-30%) HP:0000639
6 severe visual impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0001141
7 intellectual disability 55 31 occasional (7.5%) Occasional (29-5%) HP:0001249
8 seizures 55 31 frequent (33%) Frequent (79-30%) HP:0001250
9 muscular hypotonia 55 31 frequent (33%) Frequent (79-30%) HP:0001252
10 global developmental delay 55 31 occasional (7.5%) Occasional (29-5%) HP:0001263
11 encephalocele 55 31 frequent (33%) Frequent (79-30%) HP:0002084
12 abnormality of neuronal migration 55 31 frequent (33%) Frequent (79-30%) HP:0002269
13 hemiplegia/hemiparesis 55 31 frequent (33%) Frequent (79-30%) HP:0004374
14 aplasia/hypoplasia of the cerebellar vermis 55 31 frequent (33%) Frequent (79-30%) HP:0006817
15 abnormality of retinal pigmentation 55 31 hallmark (90%) Very frequent (99-80%) HP:0007703
16 abnormality of the optic disc 55 31 hallmark (90%) Very frequent (99-80%) HP:0012795

UMLS symptoms related to Leber Congenital Amaurosis:


static tremor, ataxia, photophobia

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased HPV16-GFP infection GR00350-A 8.92 IMPDH1 RDH12 RP2 RPE65

MGI Mouse Phenotypes related to Leber Congenital Amaurosis:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.11 LRAT NMNAT1 PDE6A PEX1 RDH12 RP2
2 vision/eye MP:0005391 9.58 AHI1 AIPL1 CEP290 CNGB3 CRB1 CRX
3 pigmentation MP:0001186 9.5 CEP290 CRB1 CRX LCA5 NMNAT1 RPE65

Drugs & Therapeutics for Leber Congenital Amaurosis

Drugs for Leber Congenital Amaurosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 cysteine Nutraceutical Phase 1, Phase 2
2
acetic acid Approved, Nutraceutical Phase 1 64-19-7 176
3
Vitamin A Approved, Nutraceutical, Vet_approved Phase 1 68-26-8, 11103-57-4 445354
4 Adjuvants, Immunologic Phase 1
5 Micronutrients Phase 1
6 Protective Agents Phase 1
7
Retinol acetate Phase 1 127-47-9 10245972
8 Retinol palmitate Phase 1
9 Trace Elements Phase 1
10 Vitamins Phase 1
11 Lecithin Nutraceutical Phase 1
12 retinol Nutraceutical Phase 1

Interventional clinical trials:

(show all 18)

# Name Status NCT ID Phase Drugs
1 Safety and Efficacy Study in Subjects With Leber Congenital Amaurosis Active, not recruiting NCT00999609 Phase 3
2 Phase 1/2 Safety and Efficacy Study of AAV-RPE65 Vector to Treat Leber Congenital Amaurosis Completed NCT00749957 Phase 1, Phase 2
3 Clinical Gene Therapy Protocol for the Treatment of Retinal Dystrophy Caused by Defects in RPE65 Completed NCT01496040 Phase 1, Phase 2 rAAV2/4.hRPE65
4 Safety Study of RPE65 Gene Therapy to Treat Leber Congenital Amaurosis Completed NCT00643747 Phase 1, Phase 2
5 Study to Evaluate QR-110 in Subjects With Leber's Congenital Amaurosis (LCA) Due to the c.2991+1655A>G Mutation (p.Cys998X) in the CEP290 Gene Recruiting NCT03140969 Phase 1, Phase 2 QR-110
6 Clinical Trial of Gene Therapy for the Treatment of Leber Congenital Amaurosis (LCA) Recruiting NCT02781480 Phase 1, Phase 2
7 Phase 1 Follow-on Study of AAV2-hRPE65v2 Vector in Subjects With Leber Congenital Amaurosis (LCA) 2 Active, not recruiting NCT01208389 Phase 1, Phase 2
8 Clinical Trial of Gene Therapy for Leber Congenital Amaurosis Caused by RPE65 Mutations Unknown status NCT00821340 Phase 1
9 Repeated Treatments of QLT091001 in Subjects With Leber Congenital Amaurosis or Retinitis Pigmentosa (Extension of Study RET IRD 01) Completed NCT01521793 Phase 1 QLT091001
10 Safety/Proof of Concept Study of Oral QLT091001 in Subjects With Leber Congenital Amaurosis (LCA) or Retinitis Pigmentosa (RP) Due to Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT) Mutations Completed NCT01014052 Phase 1 QLT091001
11 Safety Study in Subjects With Leber Congenital Amaurosis Active, not recruiting NCT00516477 Phase 1
12 Phase I Trial of Gene Vector to Patients With Retinal Disease Due to RPE65 Mutations Active, not recruiting NCT00481546 Phase 1
13 Genetic Decryption of Leber Congenital Amaurosis (LCA) in a Large Cohort of Independent Families. Completed NCT02970266
14 Natural History Study in Inherited Retinal Disease Subjects Caused by Mutations in RPE65 or LRAT Completed NCT02575430
15 Natural History Study of Patients With Leber Congenital Amaurosis Associated With Mutations in RPE65 Recruiting NCT02714816
16 Long-Term Follow-Up Gene Therapy Study for Leber Congenital Amaurosis OPTIRPE65 (Retinal Dystrophy Associated With Defects in RPE65) Recruiting NCT02946879
17 Natural History Study of CEP290-Related Retinal Degeneration Recruiting NCT03396042
18 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940

Search NIH Clinical Center for Leber Congenital Amaurosis

Cochrane evidence based reviews: leber congenital amaurosis

Genetic Tests for Leber Congenital Amaurosis

Genetic tests related to Leber Congenital Amaurosis:

# Genetic test Affiliating Genes
1 Leber Congenital Amaurosis 28

Anatomical Context for Leber Congenital Amaurosis

MalaCards organs/tissues related to Leber Congenital Amaurosis:

38
Retina, Eye, Pineal, Testes, Brain
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Leber Congenital Amaurosis:
# Tissue Anatomical CompartmentCell Relevance
1 Eye Retinal Pigmented Epithelium Mature Retinal Pigmented Epithelium Cells Potential therapeutic candidate, affected by disease
2 Eye Retinal Pigmented Epithelium Retinal Pigmented Epithelium Progenitor Cells Potential therapeutic candidate, affected by disease

Publications for Leber Congenital Amaurosis

Articles related to Leber Congenital Amaurosis:

(show top 50) (show all 311)
# 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
Identification of a novel RPGRIP1 mutation in an Iranian family with leber congenital amaurosis by exome sequencing. ( 29193763 )
2018
3
Safety and Long-Term Efficacy of AAV4 Gene Therapy in Patients with RPE65 Leber Congenital Amaurosis. ( 29033008 )
2018
4
Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies. ( 29398085 )
2018
5
Mutation in the Zebrafish cct2 Gene Leads to Abnormalities of Cell Cycle and Cell Death in the Retina: A Model of CCT2-Related Leber Congenital Amaurosis. ( 29450543 )
2018
6
Genetic profile and mutation spectrum of Leber congenital amaurosis in a larger Indian cohort using high throughput targeted re-sequencing. ( 29068479 )
2018
7
Severe Loss of Tritan Color Discrimination in RPE65 Associated Leber Congenital Amaurosis. ( 29332120 )
2018
8
Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy. ( 29186038 )
2017
9
Diagnostic application of clinical exome sequencing in Leber congenital amaurosis. ( 28966547 )
2017
10
Leber congenital amaurosis, from darkness to light: An ode to Irene Maumenee. ( 28095138 )
2017
11
Available Evidence on Leber Congenital Amaurosis and Gene Therapy. ( 27686653 )
2017
12
CRISPR/Cas9-Mediated Genome Editing as a Therapeutic Approach for Leber Congenital Amaurosis 10. ( 28109959 )
2017
13
Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions. ( 28689169 )
2017
14
Outcome Measures for Clinical Trials of Leber Congenital Amaurosis Caused by the Intronic Mutation in the CEP290 Gene. ( 28510626 )
2017
15
Phenotype-genotype correlation with Sanger sequencing identified retinol dehydrogenase 12 (RDH12) compound heterozygous variants in a Chinese family with Leber congenital amaurosis. ( 28471114 )
2017
16
The genetic profile of Leber congenital amaurosis in an Australian cohort. ( 29178642 )
2017
17
Defining Outcomes for Clinical Trials of Leber Congenital Amaurosis Caused by GUCY2D Mutations. ( 28212877 )
2017
18
Whole Exome Sequencing in Eight Thai Patients With Leber Congenital Amaurosis Reveals Mutations in the CTNNA1 and CYP4V2 Genes. ( 28453600 )
2017
19
Peripapillary sparing in RDH12-associated Leber congenital amaurosis. ( 28513254 )
2017
20
Gene Therapy Using a miniCEP290 Fragment Delays Photoreceptor Degeneration in a Mouse Model of Leber Congenital Amaurosis. ( 28679290 )
2017
21
A subpopulation of activated retinal macrophages selectively migrated to regions of cone photoreceptor stress, but had limited effect on cone death in a mouse model for type 2 Leber congenital amaurosis. ( 28889993 )
2017
22
A Gene Scan Study of<i>RPE65</i>in Chinese Patients with Leber Congenital Amaurosis. ( 29133760 )
2017
23
Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis inA a large kindred. ( 27475985 )
2016
24
Personalized models reveal mechanistic and therapeutic insights into CEP290-associated Leber congenital amaurosis. ( 27868047 )
2016
25
Comprehensive analysis of genetic variations in strictly-defined Leber congenital amaurosis with whole-exome sequencing in Chinese. ( 27672588 )
2016
26
Functional study of two biochemically unusual mutations in GUCY2D Leber congenital amaurosis expressed via adenoassociated virus vector in mouse retinas. ( 27881908 )
2016
27
Leber Congenital Amaurosis: Genotypes and Retinal Structure Phenotypes. ( 26427408 )
2016
28
A Novel Recessive RPGRIP1 Mutation Causing Leber Congenital Amaurosis. ( 27116508 )
2016
29
Overlap of abnormal photoreceptor development and progressive degeneration in Leber congenital amaurosis caused by NPHP5 mutation. ( 27506978 )
2016
30
CCT2 Mutations Evoke Leber Congenital Amaurosis due to Chaperone Complex Instability. ( 27645772 )
2016
31
Pharmacological Amelioration of Cone Survival and Vision in a Mouse Model for Leber Congenital Amaurosis. ( 27225770 )
2016
32
Results at 2 Years after Gene Therapy for RPE65-Deficient Leber Congenital Amaurosis and Severe Early-Childhood-Onset Retinal Dystrophy. ( 27102010 )
2016
33
CrxRdy Cat: A Large Animal Model for CRX-Associated Leber Congenital Amaurosis. ( 27427859 )
2016
34
A Mini-review: Animal Models of GUCY2D Leber Congenital Amaurosis (LCA1). ( 26427419 )
2016
35
Coat's like vasculopathy in leber congenital amaurosis secondary to homozygous mutations in CRB1: a case report and discussion of the management options. ( 26872607 )
2016
36
Omics in Ophthalmology: Advances in Genomics and Precision Medicine for Leber Congenital Amaurosis and Age-Related Macular Degeneration. ( 27010695 )
2016
37
Clinical and genetic characteristics of Leber congenital amaurosis with novel mutations in known genes based on a Chinese eastern coast Han population. ( 27422788 )
2016
38
Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1. ( 26820066 )
2016
39
LEBER CONGENITAL AMAUROSIS WITH LARGE RETINAL PIGMENT CLUMPS CAUSED BY COMPOUND HETEROZYGOUS MUTATIONS IN KCNJ13. ( 27203561 )
2016
40
Development of an optimized AAV2/5 gene therapy vector for Leber congenital amaurosis owing to defects in RPE65. ( 27653967 )
2016
41
Molecular genetics of Leber congenital amaurosis in Chinese: New data from 66 probands and mutation overview of 159 probands. ( 27375279 )
2016
42
Genetic deletion of S-opsin prevents rapid cone degeneration in a mouse model of Leber congenital amaurosis. ( 25416279 )
2015
43
Leber congenital amaurosis: first genotyped Hungarian patients and report of 2 novel mutations in the CRB1 and CEP290 genes. ( 26165328 )
2015
44
Diagnostic application of an extensive gene panel for leber congenital amaurosis with severe genetic heterogeneity. ( 25445212 )
2015
45
ALMS1 null mutations: a common cause of Leber congenital amaurosis and early-onset severe cone-rod dystrophy. ( 26010121 )
2015
46
Temperature-sensitive retinoid isomerase activity of RPE65 mutants associated with Leber Congenital Amaurosis. ( 25752820 )
2015
47
Clinical and genetic findings in a family with NMNAT1-associated Leber congenital amaurosis: case report and review of the literature. ( 26464178 )
2015
48
Review and update on the molecular basis of Leber congenital amaurosis. ( 25685757 )
2015
49
AAV8(Y733F)-mediated gene therapy in a Spata7 knockout mouse model of Leber congenital amaurosis and retinitis pigmentosa. ( 25965394 )
2015
50
Investigation of Aberrant Splicing Induced by AIPL1 Variations as a Cause of Leber Congenital Amaurosis. ( 26650897 )
2015

Variations for Leber Congenital Amaurosis

ClinVar genetic disease variations for Leber Congenital Amaurosis:

6 (show all 40)
# Gene Variation Type Significance SNP ID Assembly Location
1 IQCB1 NM_001023570.3(IQCB1): c.1036G> T (p.Glu346Ter) single nucleotide variant Pathogenic rs387907009 GRCh37 Chromosome 3, 121509013: 121509013
2 NMNAT1 NM_022787.3(NMNAT1): c.769G> A (p.Glu257Lys) single nucleotide variant Pathogenic/Likely pathogenic rs150726175 GRCh37 Chromosome 1, 10042688: 10042688
3 ABCA4 NM_000350.2(ABCA4): c.2041C> T (p.Arg681Ter) single nucleotide variant Pathogenic/Likely pathogenic rs61749423 GRCh37 Chromosome 1, 94526212: 94526212
4 LCA5 NM_181714.3(LCA5): c.835C> T (p.Gln279Ter) single nucleotide variant Pathogenic rs121918165 GRCh37 Chromosome 6, 80203353: 80203353
5 CEP290 NM_025114.3(CEP290): c.21G> T (p.Trp7Cys) single nucleotide variant Pathogenic/Likely pathogenic rs62635288 GRCh37 Chromosome 12, 88535064: 88535064
6 IQCB1 NM_001023570.3(IQCB1): c.424_425delTT (p.Phe142Profs) deletion Pathogenic rs750962965 GRCh38 Chromosome 3, 121808978: 121808979
7 AIPL1 NM_014336.4(AIPL1): c.834G> A (p.Trp278Ter) single nucleotide variant Pathogenic rs62637014 GRCh37 Chromosome 17, 6329101: 6329101
8 PEX1 NM_000466.2(PEX1): c.2528G> A (p.Gly843Asp) single nucleotide variant Pathogenic rs61750420 GRCh37 Chromosome 7, 92130876: 92130876
9 KCNJ13 NM_002242.4(KCNJ13): c.458C> T (p.Thr153Ile) single nucleotide variant Pathogenic/Likely pathogenic rs863224884 GRCh37 Chromosome 2, 233635615: 233635615
10 CRX NM_000554.5(CRX): c.648delC (p.Ser216Argfs) deletion Likely pathogenic rs869312175 GRCh38 Chromosome 19, 47839715: 47839715
11 IQCB1 NM_001023570.3(IQCB1): c.214C> T (p.Arg72Ter) single nucleotide variant Pathogenic/Likely pathogenic rs201405662 GRCh37 Chromosome 3, 121547366: 121547366
12 RPGRIP1 NM_020366.3(RPGRIP1): c.3339+5G> A single nucleotide variant Pathogenic/Likely pathogenic rs1057518122 GRCh37 Chromosome 14, 21802869: 21802869
13 CNGB3 NM_019098.4(CNGB3): c.819_826delCAGACTCC (p.Arg274Valfs) deletion Pathogenic rs775796581 GRCh38 Chromosome 8, 86666951: 86666958
14 SLC38A8 NM_001080442.2(SLC38A8): c.388+5G> A single nucleotide variant Likely pathogenic rs760391436 GRCh37 Chromosome 16, 84070302: 84070302
15 CRB1 NM_201253.2(CRB1): c.2842T> C (p.Cys948Arg) single nucleotide variant Pathogenic rs62645747 GRCh38 Chromosome 1, 197429614: 197429614
16 RPE65 NM_000329.2(RPE65): c.1338G> T (p.Arg446Ser) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 68896965: 68896965
17 RPE65 NM_000329.2(RPE65): c.1101A> G (p.Arg367=) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 68438214: 68438214
18 PDE6A NM_000440.2(PDE6A): c.2027+5G> T single nucleotide variant Pathogenic rs794727166 GRCh38 Chromosome 5, 149884474: 149884474
19 AHI1 NM_001134831.1(AHI1): c.1912+5G> T single nucleotide variant Pathogenic GRCh38 Chromosome 6, 135442577: 135442577
20 CEP290 NM_025114.3(CEP290): c.1910-11T> G single nucleotide variant Pathogenic GRCh37 Chromosome 12, 88508350: 88508350
21 CEP290 NM_025114.3(CEP290): c.1623+5G> A single nucleotide variant Pathogenic GRCh38 Chromosome 12, 88118638: 88118638
22 RPGRIP1 NM_020366.3(RPGRIP1): c.564A> G (p.Glu188=) single nucleotide variant Pathogenic rs574462207 GRCh37 Chromosome 14, 21770720: 21770720
23 SPATA7 NM_018418.4(SPATA7): c.19G> A (p.Val7Ile) single nucleotide variant Pathogenic rs371609982 GRCh38 Chromosome 14, 88385837: 88385837
24 SPATA7 NM_018418.4(SPATA7): c.1215G> T (p.Glu405Asp) single nucleotide variant Pathogenic rs768028061 GRCh38 Chromosome 14, 88437597: 88437597
25 RP2 NM_006915.2(RP2): c.102G> A (p.Lys34=) single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 46837202: 46837202
26 RP2 NM_006915.2(RP2): c.102+3A> C single nucleotide variant Pathogenic GRCh37 Chromosome X, 46696640: 46696640
27 CRB1 NM_201253.2(CRB1): c.1183G> T (p.Glu395Ter) single nucleotide variant Likely pathogenic rs369775002 GRCh37 Chromosome 1, 197390141: 197390141
28 CRB1 NM_201253.2(CRB1): c.2220dup (p.Met741Hisfs) duplication Likely pathogenic GRCh37 Chromosome 1, 197396675: 197396675
29 NMNAT1 NM_022787.3(NMNAT1): c.155G> T (p.Gly52Val) single nucleotide variant Likely pathogenic rs768528387 GRCh38 Chromosome 1, 9975631: 9975631
30 NMNAT1 NM_022787.3(NMNAT1): c.485C> A (p.Ser162Tyr) single nucleotide variant Likely pathogenic GRCh37 Chromosome 1, 10042404: 10042404
31 NMNAT1 NM_022787.3(NMNAT1): c.661dup (p.Ile221Asnfs) duplication Likely pathogenic rs775978677 GRCh38 Chromosome 1, 9982522: 9982522
32 NMNAT1 NM_022787.3(NMNAT1): c.736G> C (p.Glu246Gln) single nucleotide variant Likely pathogenic rs747653875 GRCh37 Chromosome 1, 10042655: 10042655
33 IQCB1 NM_001023570.3(IQCB1): c.260T> G (p.Leu87Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome 3, 121828473: 121828473
34 LCA5 NM_181714.3(LCA5): c.1676C> A (p.Ser559Ter) single nucleotide variant Pathogenic rs766143193 GRCh38 Chromosome 6, 79487422: 79487422
35 LCA5 NM_181714.3(LCA5): c.838C> T (p.Arg280Ter) single nucleotide variant Pathogenic rs866395428 GRCh37 Chromosome 6, 80203350: 80203350
36 RPGRIP1 NM_020366.3(RPGRIP1): c.1116delA (p.Lys372Asnfs) deletion Likely pathogenic rs776880045 GRCh37 Chromosome 14, 21780630: 21780630
37 RPGRIP1 NM_020366.3(RPGRIP1): c.2941C> T (p.Arg981Ter) single nucleotide variant Likely pathogenic rs780667159 GRCh38 Chromosome 14, 21328469: 21328469
38 RPGRIP1 NM_020366.3(RPGRIP1): c.3120G> A (p.Trp1040Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome 14, 21330269: 21330269
39 GUCY2D NM_000180.3(GUCY2D): c.3098_3099insCGTGCTCT (p.Gly1034Valfs) insertion Likely pathogenic GRCh37 Chromosome 17, 7919299: 7919300
40 RPGRIP1 NC_000014.8: g.21784106_21791536del7431 deletion Likely pathogenic GRCh37 Chromosome 14, 21784106: 21791536

Expression for Leber Congenital Amaurosis

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

Pathways for Leber Congenital Amaurosis

Pathways related to Leber Congenital Amaurosis according to KEGG:

36
# Name Kegg Source Accession
1 Purine metabolism hsa00230
2 Retinol metabolism hsa00830
3 Phototransduction hsa04744

GO Terms for Leber Congenital Amaurosis

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

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.87 AHI1 CEP290 LCA5 RP2 RPGRIP1 SPATA7
2 photoreceptor outer segment GO:0001750 9.58 CNGB3 IQCB1 TULP1
3 centriole GO:0005814 9.56 AHI1 CEP290 IQCB1 RP2
4 photoreceptor inner segment GO:0001917 9.54 AIPL1 CRB1 TULP1
5 non-motile cilium GO:0097730 9.48 AHI1 RPGRIP1
6 photoreceptor disc membrane GO:0097381 9.46 GUCY2D PDE6A
7 ciliary basal body GO:0036064 9.46 AHI1 CEP290 RP2 SPATA7
8 MKS complex GO:0036038 9.43 AHI1 CEP290
9 cilium GO:0005929 9.43 AHI1 CEP290 LCA5 RP2 RPGRIP1 TULP1
10 photoreceptor connecting cilium GO:0032391 8.92 CEP290 IQCB1 RPGRIP1 SPATA7

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.7 AIPL1 CNGB3 CRX GUCY2D LRAT PDE6A
2 ciliary basal body-plasma membrane docking GO:0097711 9.67 AHI1 CEP290 IQCB1
3 retina development in camera-type eye GO:0060041 9.65 RPE65 RPGRIP1 TULP1
4 retinoid metabolic process GO:0001523 9.63 LRAT RDH12 RPE65
5 photoreceptor cell maintenance GO:0045494 9.56 IQCB1 RDH12 SPATA7 TULP1
6 regulation of rhodopsin mediated signaling pathway GO:0022400 9.54 GUCY2D PDE6A
7 retina homeostasis GO:0001895 9.54 AIPL1 RPE65 TULP1
8 hindbrain development GO:0030902 9.52 AHI1 CEP290
9 detection of light stimulus involved in visual perception GO:0050908 9.51 RPE65 TULP1
10 retinol metabolic process GO:0042572 9.5 LRAT RDH12 RPE65
11 eye photoreceptor cell development GO:0042462 9.46 CEP290 CRB1 RPGRIP1 TULP1
12 protein localization to photoreceptor outer segment GO:1903546 9.43 SPATA7 TULP1
13 vitamin A metabolic process GO:0006776 9.4 LRAT RPE65
14 visual perception GO:0007601 9.4 AIPL1 CNGB3 CRX GUCY2D LRAT PDE6A

Sources for Leber Congenital Amaurosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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