CRB
MCID: LBR001
MIFTS: 64

Leber Congenital Amaurosis (CRB)

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

Aliases & Classifications for Leber Congenital Amaurosis

MalaCards integrated aliases for Leber Congenital Amaurosis:

Name: Leber Congenital Amaurosis 39 12 54 26 60 38 30 6 45 15 41 74
Lca 12 54 26 15
Leber's Amaurosis 12 54 26
Congenital Amaurosis of Retinal Origin 26 74
Congenital Retinal Blindness 54 26
Leber Plus Disease 60 6
Leber's Disease 12 77
Leber's Congenital Tapetoretinal Degeneration 54
Leber Congenital Tapetoretinal Degeneration 26
Leber's Congenital Tapetoretinal Dysplasia 54
Hereditary Epithelial Dysplasia of Retina 26
Congenital Absence of the Rods and Cones 54
Amaurosis Congenita of Leber, Type 1 74
Dysgenesis Neuroepithelialis Retinae 26
Optic Atrophy, Hereditary, Leber 74
Heredoretinopathia Congenitalis 26
Leber's Congenital Amaurosis 12
Amaurosis Congenita of Leber 60
Amaurosis, Leber Congenital 26
Lebers Congenital Amaurosis 56
Hereditary Retinal Aplasia 26
Lhon Plus Disease 60
Leber Abiotrophy 26
Crb 26

Characteristics:

Orphanet epidemiological data:

60
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;
leber plus disease
Inheritance: Mitochondrial inheritance; Prevalence: <1/1000000 (Europe); Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: normal life expectancy;

Classifications:



Summaries for Leber Congenital Amaurosis

NIH Rare Diseases : 54 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.

MalaCards based summary : Leber Congenital Amaurosis, also known as lca, is related to leber congenital amaurosis 4 and leber congenital amaurosis 10, and has symptoms including ataxia, photophobia and static tremor. An important gene associated with Leber Congenital Amaurosis is LCA5 (Lebercilin LCA5), 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 abnormality of retinal pigmentation and abnormality of the optic disc

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 : 26 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 : 77 Leber''s hereditary optic neuropathy (LHON) or Leber hereditary optic atrophy is a mitochondrially... more...

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 113)
# Related Disease Score Top Affiliating Genes
1 leber congenital amaurosis 4 35.4 AIPL1 CRX GUCY2D PDE6A RPE65
2 leber congenital amaurosis 10 35.4 CEP290 IQCB1 RPE65
3 leber congenital amaurosis 12 35.3 CEP290 GUCY2D RPE65
4 leber congenital amaurosis 9 35.3 AIPL1 CRB1 CRX GUCY2D LCA5 NMNAT1
5 leber congenital amaurosis 3 35.3 LCA5 RDH12 RPGRIP1 SPATA7
6 leber congenital amaurosis 1 35.2 GUCY2D TULP1
7 senior-loken syndrome 1 33.7 AHI1 CEP290 IQCB1
8 retinitis pigmentosa 32.3 ABCA4 AHI1 AIPL1 CEP290 CRB1 CRX
9 retinal degeneration 31.9 ABCA4 AIPL1 CRB1 CRX GUCY2D RPE65
10 fundus dystrophy 31.9 ABCA4 AHI1 AIPL1 CEP290 CNGB3 CRB1
11 cone-rod dystrophy 2 31.7 ABCA4 AIPL1 CRX GUCY2D IQCB1 RPE65
12 keratoconus 31.7 AIPL1 CRB1 GUCY2D RPE65
13 severe early-childhood-onset retinal dystrophy 31.5 ABCA4 LCA5 LRAT RPE65 SPATA7
14 retinal disease 31.3 ABCA4 AIPL1 CEP290 CNGB3 CRB1 CRX
15 stargardt disease 31.2 ABCA4 CNGB3 CRB1 LRAT RDH12 RPE65
16 joubert syndrome 1 31.2 AHI1 CEP290 IQCB1 LCA5 RPGRIP1
17 retinal aplasia 31.2 CEP290 IQCB1
18 nephronophthisis 31.2 AHI1 CEP290 IQCB1 RPGRIP1
19 congenital stationary night blindness 31.1 ABCA4 AIPL1 CNGB3 RPE65
20 leber congenital amaurosis 2 12.9
21 leber congenital amaurosis 15 12.8
22 leber congenital amaurosis 6 12.8
23 leber congenital amaurosis 14 12.8
24 leber congenital amaurosis 8 12.8
25 leber congenital amaurosis 11 12.8
26 leber congenital amaurosis 5 12.8
27 leber congenital amaurosis 7 12.8
28 leber congenital amaurosis 13 12.8
29 leber congenital amaurosis 16 12.8
30 leber congenital amaurosis 17 12.7
31 leber congenital amaurosis with early-onset deafness 12.7
32 leber congenital amaurosis / early-onset severe retinal dystrophy 12.4
33 retinitis pigmentosa 7 12.1
34 littoral cell angioma of the spleen 11.8
35 keratoconus 1 11.4
36 anomalous left coronary artery from the pulmonary artery 11.3
37 leber hereditary optic neuropathy 11.3
38 nystagmus 1, congenital, x-linked 11.3
39 senior-loken syndrome 5 11.3
40 nephronophthisis 14 11.3
41 nephronophthisis 15 11.3
42 joubert syndrome with oculorenal anomalies 11.3
43 congenital muscular dystrophy with cerebellar involvement 11.1
44 retinitis 10.8
45 achromatopsia 3 10.7 AIPL1 CNGB3 CRB1 CRX GUCY2D RPE65
46 yemenite deaf-blind hypopigmentation syndrome 10.7 ABCA4 AIPL1 CEP290 CRB1 GUCY2D RPE65
47 bietti crystalline corneoretinal dystrophy 10.7 CEP290 IQCB1 NMNAT1 RPGRIP1
48 prolonged electroretinal response suppression 10.7 ABCA4 CRB1 CRX GUCY2D
49 retinoschisis 1, x-linked, juvenile 10.7 CNGB3 CRB1 CRX RPE65
50 cone-rod dystrophy 8 10.7 ABCA4 CNGB3 CRX GUCY2D RPGRIP1

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:

60 33 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of retinal pigmentation 60 33 hallmark (90%) Very frequent (99-80%) HP:0007703
2 abnormality of the optic disc 60 33 hallmark (90%) Very frequent (99-80%) HP:0012795
3 severely reduced visual acuity 33 hallmark (90%) HP:0001141
4 nystagmus 60 33 frequent (33%) Frequent (79-30%) HP:0000639
5 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
6 muscular hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001252
7 cataract 60 33 frequent (33%) Frequent (79-30%) HP:0000518
8 hemiplegia/hemiparesis 60 33 frequent (33%) Frequent (79-30%) HP:0004374
9 abnormal electroretinogram 60 33 frequent (33%) Frequent (79-30%) HP:0000512
10 abnormality of neuronal migration 60 33 frequent (33%) Frequent (79-30%) HP:0002269
11 keratoconus 60 33 frequent (33%) Frequent (79-30%) HP:0000563
12 encephalocele 60 33 frequent (33%) Frequent (79-30%) HP:0002084
13 aplasia/hypoplasia of the cerebellar vermis 60 33 frequent (33%) Frequent (79-30%) HP:0006817
14 intellectual disability 60 33 occasional (7.5%) Occasional (29-5%) HP:0001249
15 hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000365
16 global developmental delay 60 33 occasional (7.5%) Occasional (29-5%) HP:0001263
17 severe visual impairment 60 Very frequent (99-80%)

UMLS symptoms related to Leber Congenital Amaurosis:


ataxia, photophobia, static tremor

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.92 ABCA4 AHI1 AIPL1 CEP290 CLUAP1 CNGB3

MGI Mouse Phenotypes related to Leber Congenital Amaurosis:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.13 ABCA4 AHI1 AIPL1 CEP290 CLUAP1 CNGB3
2 vision/eye MP:0005391 9.58 ABCA4 AHI1 AIPL1 CEP290 CNGB3 CRB1
3 pigmentation MP:0001186 9.56 ABCA4 CEP290 CRB1 CRX LCA5 NMNAT1

Drugs & Therapeutics for Leber Congenital Amaurosis

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

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 cysteine Phase 1, Phase 2
2
acetic acid Approved Phase 1 64-19-7 176
3
Vitamin A Approved, Nutraceutical, Vet_approved Phase 1 22737-96-8, 68-26-8, 11103-57-4 9904001 445354
4 Nutrients Phase 1
5
Retinol acetate Phase 1 127-47-9 10245972
6 Trace Elements Phase 1
7 Retinol palmitate Phase 1
8 Vitamins Phase 1
9 Immunologic Factors Phase 1
10 retinol Phase 1
11 Adjuvants, Immunologic Phase 1
12 Lecithin Phase 1
13 Protective Agents Phase 1
14 Micronutrients Phase 1

Interventional clinical trials:

(show all 22)
# 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 Clinical Trial of Gene Therapy for the Treatment of Leber Congenital Amaurosis (LCA) Recruiting NCT02781480 Phase 1, Phase 2
6 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 Active, not recruiting NCT03140969 Phase 1, Phase 2 QR-110
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 Single Ascending Dose Study in Participants With LCA10 Not yet recruiting NCT03872479 Phase 1, Phase 2 AGN-151587
9 Clinical Trial of Gene Therapy for Leber Congenital Amaurosis Caused by RPE65 Mutations Completed NCT00821340 Phase 1
10 Repeated Treatments of QLT091001 in Subjects With Leber Congenital Amaurosis or Retinitis Pigmentosa (Extension of Study RET IRD 01) Completed NCT01521793 Phase 1 QLT091001
11 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
12 Safety Study in Subjects With Leber Congenital Amaurosis Active, not recruiting NCT00516477 Phase 1
13 Phase I Trial of Gene Vector to Patients With Retinal Disease Due to RPE65 Mutations Active, not recruiting NCT00481546 Phase 1
14 Genetic Decryption of Leber Congenital Amaurosis (LCA) in a Large Cohort of Independent Families. Completed NCT02970266
15 Natural History Study in Inherited Retinal Disease Subjects Caused by Mutations in RPE65 or LRAT Completed NCT02575430
16 Natural History Study of Patients With Leber Congenital Amaurosis Associated With Mutations in RPE65 Recruiting NCT02714816
17 Treatment of RP and LCA by Primary RPE Transplantation Recruiting NCT03566147 Early Phase 1
18 Long-Term Follow-Up Gene Therapy Study for Leber Congenital Amaurosis OPTIRPE65 (Retinal Dystrophy Associated With Defects in RPE65) Recruiting NCT02946879
19 A Patient Registry Study for Patients Treated With Voretigene Neparvovec Recruiting NCT03597399
20 Natural History Study of CEP290-Related Retinal Degeneration Recruiting NCT03396042
21 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
22 Long-term Follow-up Study in Subjects Who Received Voretigene Neparvovec-rzyl (AAV2-hRPE65v2) Active, not recruiting NCT03602820

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 30

Anatomical Context for Leber Congenital Amaurosis

MalaCards organs/tissues related to Leber Congenital Amaurosis:

42
Retina, Eye, Testes, Brain, Pineal, B Cells, Fetal Liver
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 Affected by disease, potential therapeutic candidate
2 Eye Retinal Pigmented Epithelium Retinal Pigmented Epithelium Progenitor Cells Affected by disease, potential therapeutic candidate

Publications for Leber Congenital Amaurosis

Articles related to Leber Congenital Amaurosis:

(show top 50) (show all 550)
# Title Authors Year
1
Development of a gene-editing approach to restore vision loss in Leber congenital amaurosis type 10. ( 30664785 )
2019
2
A high prevalence of biallelic RPE65 mutations in Costa Rican children with Leber congenital amaurosis and early-onset retinal dystrophy. ( 30870047 )
2019
3
Development and testing of the Product Environmental Footprint Milk Tool: A comprehensive LCA tool for dairy products. ( 30340305 )
2019
4
Spatially explicit LCA analysis of biodiversity losses due to different bioenergy policies in the European Union. ( 30360280 )
2019
5
How to manage biocomposites wastes end of life? A life cycle assessment approach (LCA) focused on polypropylene (PP)/wood flour and polylactic acid (PLA)/flax fibres biocomposites. ( 30514465 )
2019
6
HIT.WATER scheme: An integrated LCA-based decision-support platform for evaluation of wastewater discharge limits. ( 30577134 )
2019
7
A tool to guide the selection of impact categories for LCA studies by using the representativeness index. ( 30583172 )
2019
8
Removing Shadows from Consequential LCA through a Time-Dependent Modeling Approach: Policy-Making in the Road Pavement Sector. ( 30605599 )
2019
9
A prospective life-cycle assessment (LCA) of monomer synthesis: Comparison of biocatalytic and oxidative chemistry. ( 30681769 )
2019
10
Bringing value to the chemical industry from capture, storage and use of CO2: A dynamic LCA of formic acid production. ( 30738256 )
2019
11
Building-Integrated Photovoltaic/Thermal (BIPVT): LCA of a façade-integrated prototype and issues about human health, ecosystems, resources. ( 30743949 )
2019
12
Life-Cycle Assessment (LCA) Analysis of Algal Fuels. ( 30838603 )
2019
13
Uncertainty implications of hybrid approach in LCA: precision versus accuracy. ( 30844258 )
2019
14
An LCA of the Pelamis wave energy converter. ( 30872902 )
2019
15
Quantification of corruption in preventative cost-based S-LCA: a contribution to the Oiconomy project. ( 30872903 )
2019
16
Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing. ( 29844330 )
2018
17
A complete, homozygous CRX deletion causing nullizygosity is a new genetic mechanism for Leber congenital amaurosis. ( 29568065 )
2018
18
Genetic profile and mutation spectrum of Leber congenital amaurosis in a larger Indian cohort using high throughput targeted re-sequencing. ( 29068479 )
2018
19
Severe Loss of Tritan Color Discrimination in RPE65 Associated Leber Congenital Amaurosis. ( 29332120 )
2018
20
Prevention of Leber congenital amaurosis through preimplantation genetic diagnosis. ( 29548835 )
2018
21
Deficiency of type 2 iodothyronine deiodinase reduces necroptosis activity and oxidative stress responses in retinas of Leber congenital amaurosis model mice. ( 29874126 )
2018
22
Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies. ( 29398085 )
2018
23
NMNAT1 E257K variant, associated with Leber Congenital Amaurosis (LCA9), causes a mild retinal degeneration phenotype. ( 29674119 )
2018
24
Safety and Long-Term Efficacy of AAV4 Gene Therapy in Patients with RPE65 Leber Congenital Amaurosis. ( 29033008 )
2018
25
A Chinese family with autosomal recessive congenital ichthyosis and Leber congenital amaurosis due to mutations in PNPLA1 and LCA5. ( 29400301 )
2018
26
Overexpression of Type 3 Iodothyronine Deiodinase Reduces Cone Death in the Leber Congenital Amaurosis Model Mice. ( 29721936 )
2018
27
Antisense Oligonucleotide-Based Splicing Correction in Individuals with Leber Congenital Amaurosis due to Compound Heterozygosity for the c.2991+1655A&amp;gt;G Mutation in CEP290. ( 29518907 )
2018
28
The Leber Congenital Amaurosis-Linked Protein AIPL1 and Its Critical Role in Photoreceptors. ( 29721967 )
2018
29
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
30
Identification of a novel RPGRIP1 mutation in an Iranian family with leber congenital amaurosis by exome sequencing. ( 29193763 )
2018
31
A Mini-Review: Leber Congenital Amaurosis: Identification of Disease-Causing Variants and Personalised Therapies. ( 29721952 )
2018
32
Parapapillary Optic Nerve Head Drusen in Leber Congenital Amaurosis. ( 30021046 )
2018
33
A Cross-Sectional and Longitudinal Study of Retinal Sensitivity in RPE65-Associated Leber Congenital Amaurosis. ( 30025081 )
2018
34
Correction: Development of an optimized AAV2/5 gene therapy vector for Leber congenital amaurosis owing to defects in RPE65. ( 30046128 )
2018
35
A novel variant in IDH3A identified in a case with Leber congenital amaurosis accompanied by macular pseudocoloboma. ( 30058936 )
2018
36
Loss of CRB2 in Müller glial cells modifies a CRB1-associated retinitis pigmentosa phenotype into a Leber congenital amaurosis phenotype. ( 30239717 )
2018
37
Generation of a human iPSC line from a patient with Leber congenital amaurosis caused by mutation in AIPL1. ( 30366342 )
2018
38
Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect. ( 30559420 )
2018
39
Biallelic mutations in USP45, encoding a deubiquitinating enzyme, are associated with Leber congenital amaurosis. ( 30573563 )
2018
40
Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis. ( 30576320 )
2018
41
Leber Congenital Amaurosis. ( 30578499 )
2018
42
Rescue of cone function in cone-only Nphp5 knockout mouse model with Leber congenital amaurosis phenotype. ( 30713422 )
2018
43
Downcycling versus recycling of construction and demolition waste: Combining LCA and LCC to support sustainable policy making. ( 29398268 )
2018
44
LCA/LCC analysis of starting-lighting-ignition lead-acid battery in China. ( 30065863 )
2018
45
Choice of mineral fertilizer substitution principle strongly influences LCA environmental benefits of nutrient cycling in the agri-food system. ( 28972899 )
2018
46
LCA of greywater management within a water circular economy restorative thinking framework. ( 29107370 )
2018
47
Impacts from urban water systems on receiving waters - How to account for severe wet-weather events in LCA? ( 29156311 )
2018
48
Natural biotic resources in LCA: Towards an impact assessment model for sustainable supply chain management. ( 29358846 )
2018
49
Innovative Chemical Process for Recycling Thermosets Cured with Recyclamines® by Converting Bio-Epoxy Composites in Reusable Thermoplastic-An LCA Study. ( 29495571 )
2018
50
Are functional fillers improving environmental behavior of plastics? A review on LCA studies. ( 29898558 )
2018

Variations for Leber Congenital Amaurosis

ClinVar genetic disease variations for Leber Congenital Amaurosis:

6 (show top 50) (show all 1510)
# Gene Variation Type Significance SNP ID Assembly Location
1 CEP290 NM_025114.3(CEP290): c.4250A> G (p.Gln1417Arg) single nucleotide variant Uncertain significance rs201504946 GRCh37 Chromosome 12, 88480220: 88480220
2 CEP290 NM_025114.3(CEP290): c.4250A> G (p.Gln1417Arg) single nucleotide variant Uncertain significance rs201504946 GRCh38 Chromosome 12, 88086443: 88086443
3 LCA5 NM_181714.3(LCA5): c.71T> C (p.Leu24Ser) single nucleotide variant Benign rs2655655 GRCh37 Chromosome 6, 80228541: 80228541
4 LCA5 NM_181714.3(LCA5): c.71T> C (p.Leu24Ser) single nucleotide variant Benign rs2655655 GRCh38 Chromosome 6, 79518824: 79518824
5 LCA5 NM_181714.3(LCA5): c.77A> C (p.Asp26Ala) single nucleotide variant Benign/Likely benign rs34068461 GRCh37 Chromosome 6, 80228535: 80228535
6 LCA5 NM_181714.3(LCA5): c.77A> C (p.Asp26Ala) single nucleotide variant Benign/Likely benign rs34068461 GRCh38 Chromosome 6, 79518818: 79518818
7 LCA5 NM_181714.3(LCA5): c.1967G> A (p.Gly656Asp) single nucleotide variant Benign/Likely benign rs1875845 GRCh37 Chromosome 6, 80196848: 80196848
8 LCA5 NM_181714.3(LCA5): c.1967G> A (p.Gly656Asp) single nucleotide variant Benign/Likely benign rs1875845 GRCh38 Chromosome 6, 79487131: 79487131
9 AIPL1 NM_014336.4(AIPL1): c.300A> G (p.Leu100=) single nucleotide variant Benign/Likely benign rs8075035 GRCh37 Chromosome 17, 6331803: 6331803
10 AIPL1 NM_014336.4(AIPL1): c.300A> G (p.Leu100=) single nucleotide variant Benign/Likely benign rs8075035 GRCh38 Chromosome 17, 6428483: 6428483
11 CEP290 NM_025114.3(CEP290): c.6522+12dupT duplication Benign rs11405846 GRCh37 Chromosome 12, 88454595: 88454595
12 CEP290 NM_025114.3(CEP290): c.6522+12dupT duplication Benign rs11405846 GRCh38 Chromosome 12, 88060818: 88060818
13 CEP290 NM_025114.3(CEP290): c.5055G> A (p.Ala1685=) single nucleotide variant Uncertain significance rs73192874 GRCh37 Chromosome 12, 88474130: 88474130
14 CEP290 NM_025114.3(CEP290): c.5055G> A (p.Ala1685=) single nucleotide variant Uncertain significance rs73192874 GRCh38 Chromosome 12, 88080353: 88080353
15 CEP290 NM_025114.3(CEP290): c.853-12_853-11insG insertion Benign rs71082425 GRCh37 Chromosome 12, 88522823: 88522824
16 CEP290 NM_025114.3(CEP290): c.853-12_853-11insG insertion Benign rs71082425 GRCh38 Chromosome 12, 88129046: 88129047
17 CRB1 NM_201253.2(CRB1): c.1533C> T (p.Ala511=) single nucleotide variant Benign/Likely benign rs142224492 GRCh37 Chromosome 1, 197390491: 197390491
18 CRB1 NM_201253.2(CRB1): c.1533C> T (p.Ala511=) single nucleotide variant Benign/Likely benign rs142224492 GRCh38 Chromosome 1, 197421361: 197421361
19 LRAT NM_004744.4(LRAT): c.*3T> G single nucleotide variant Uncertain significance rs200942685 GRCh37 Chromosome 4, 155670291: 155670291
20 LRAT NM_004744.4(LRAT): c.*3T> G single nucleotide variant Uncertain significance rs200942685 GRCh38 Chromosome 4, 154749139: 154749139
21 CNGB3 NM_019098.4(CNGB3): c.991-3T> G single nucleotide variant Likely pathogenic rs773372519 GRCh37 Chromosome 8, 87656917: 87656917
22 CNGB3 NM_019098.4(CNGB3): c.991-3T> G single nucleotide variant Likely pathogenic rs773372519 GRCh38 Chromosome 8, 86644689: 86644689
23 IMPDH1 NM_000883.3(IMPDH1): c.1108G> A (p.Ala370Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs72624961 GRCh37 Chromosome 7, 128037043: 128037043
24 IMPDH1 NM_000883.3(IMPDH1): c.1108G> A (p.Ala370Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs72624961 GRCh38 Chromosome 7, 128396989: 128396989
25 SPATA7 NM_018418.4(SPATA7): c.1428G> A (p.Ser476=) single nucleotide variant Uncertain significance rs140192398 GRCh37 Chromosome 14, 88904394: 88904394
26 SPATA7 NM_018418.4(SPATA7): c.1428G> A (p.Ser476=) single nucleotide variant Uncertain significance rs140192398 GRCh38 Chromosome 14, 88438050: 88438050
27 IMPDH1 NM_000883.3(IMPDH1): c.1405+9A> G single nucleotide variant Benign/Likely benign rs11562030 GRCh37 Chromosome 7, 128035176: 128035176
28 IMPDH1 NM_000883.3(IMPDH1): c.1405+9A> G single nucleotide variant Benign/Likely benign rs11562030 GRCh38 Chromosome 7, 128395122: 128395122
29 IMPDH1 NM_000883.3(IMPDH1): c.1714G> C (p.Glu572Gln) single nucleotide variant Uncertain significance rs150628823 GRCh37 Chromosome 7, 128034396: 128034396
30 IMPDH1 NM_000883.3(IMPDH1): c.1714G> C (p.Glu572Gln) single nucleotide variant Uncertain significance rs150628823 GRCh38 Chromosome 7, 128394342: 128394342
31 CRB1 NM_201253.2(CRB1): c.600A> G (p.Thr200=) single nucleotide variant Benign/Likely benign rs77713666 GRCh37 Chromosome 1, 197298081: 197298081
32 CRB1 NM_201253.2(CRB1): c.600A> G (p.Thr200=) single nucleotide variant Benign/Likely benign rs77713666 GRCh38 Chromosome 1, 197328951: 197328951
33 AIPL1 NM_014336.4(AIPL1): c.305G> A (p.Arg102Gln) single nucleotide variant Uncertain significance rs181630986 GRCh37 Chromosome 17, 6331798: 6331798
34 AIPL1 NM_014336.4(AIPL1): c.305G> A (p.Arg102Gln) single nucleotide variant Uncertain significance rs181630986 GRCh38 Chromosome 17, 6428478: 6428478
35 CEP290 NM_025114.3(CEP290): c.3654T> C (p.Leu1218=) single nucleotide variant Conflicting interpretations of pathogenicity rs201838492 GRCh37 Chromosome 12, 88483184: 88483184
36 CEP290 NM_025114.3(CEP290): c.3654T> C (p.Leu1218=) single nucleotide variant Conflicting interpretations of pathogenicity rs201838492 GRCh38 Chromosome 12, 88089407: 88089407
37 CEP290 NM_025114.3(CEP290): c.5284C> T (p.Arg1762Cys) single nucleotide variant Uncertain significance rs373307908 GRCh37 Chromosome 12, 88472949: 88472949
38 CEP290 NM_025114.3(CEP290): c.5284C> T (p.Arg1762Cys) single nucleotide variant Uncertain significance rs373307908 GRCh38 Chromosome 12, 88079172: 88079172
39 CEP290 NM_025114.3(CEP290): c.5322C> T (p.Leu1774=) single nucleotide variant Conflicting interpretations of pathogenicity rs117370446 GRCh37 Chromosome 12, 88472911: 88472911
40 CEP290 NM_025114.3(CEP290): c.5322C> T (p.Leu1774=) single nucleotide variant Conflicting interpretations of pathogenicity rs117370446 GRCh38 Chromosome 12, 88079134: 88079134
41 IMPDH1 NM_000883.3(IMPDH1): c.336C> T (p.Ala112=) single nucleotide variant Uncertain significance rs547740249 GRCh37 Chromosome 7, 128045838: 128045838
42 IMPDH1 NM_000883.3(IMPDH1): c.336C> T (p.Ala112=) single nucleotide variant Uncertain significance rs547740249 GRCh38 Chromosome 7, 128405784: 128405784
43 SPATA7 NM_018418.4(SPATA7): c.815G> A (p.Arg272Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs34682727 GRCh37 Chromosome 14, 88893018: 88893018
44 SPATA7 NM_018418.4(SPATA7): c.815G> A (p.Arg272Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs34682727 GRCh38 Chromosome 14, 88426674: 88426674
45 KCNJ13 NM_002242.4(KCNJ13): c.458C> T (p.Thr153Ile) single nucleotide variant Likely pathogenic rs863224884 GRCh37 Chromosome 2, 233635615: 233635615
46 KCNJ13 NM_002242.4(KCNJ13): c.458C> T (p.Thr153Ile) single nucleotide variant Likely pathogenic rs863224884 GRCh38 Chromosome 2, 232770905: 232770905
47 CEP290 NM_025114.3(CEP290): c.4754A> G (p.His1585Arg) single nucleotide variant Uncertain significance rs199826787 GRCh37 Chromosome 12, 88477682: 88477682
48 CEP290 NM_025114.3(CEP290): c.4754A> G (p.His1585Arg) single nucleotide variant Uncertain significance rs199826787 GRCh38 Chromosome 12, 88083905: 88083905
49 CEP290 NM_025114.3(CEP290): c.2484-8_2484-4dupGTTTT duplication Conflicting interpretations of pathogenicity rs745522483 GRCh37 Chromosome 12, 88500879: 88500883
50 CEP290 NM_025114.3(CEP290): c.2484-8_2484-4dupGTTTT duplication Conflicting interpretations of pathogenicity rs745522483 GRCh38 Chromosome 12, 88107102: 88107106

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:

38
# 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 CLUAP1 LCA5 RPGRIP1 SPATA7
2 centriole GO:0005814 9.65 AHI1 CEP290 IQCB1
3 ciliary basal body GO:0036064 9.63 AHI1 CEP290 SPATA7
4 cilium GO:0005929 9.63 AHI1 CEP290 CLUAP1 LCA5 RPGRIP1 TULP1
5 axoneme GO:0005930 9.61 LCA5 RPGRIP1 SPATA7
6 photoreceptor inner segment GO:0001917 9.54 AIPL1 CRB1 TULP1
7 photoreceptor disc membrane GO:0097381 9.43 ABCA4 GUCY2D PDE6A
8 MKS complex GO:0036038 9.4 AHI1 CEP290
9 photoreceptor outer segment GO:0001750 9.26 ABCA4 CNGB3 IQCB1 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 16)
# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 9.78 AHI1 CEP290 CLUAP1 IQCB1
2 response to stimulus GO:0050896 9.73 ABCA4 AIPL1 CNGB3 CRX GUCY2D LRAT
3 ciliary basal body-plasma membrane docking GO:0097711 9.71 AHI1 CEP290 IQCB1
4 retina development in camera-type eye GO:0060041 9.67 PDE6A RPE65 RPGRIP1 TULP1
5 retina homeostasis GO:0001895 9.63 AIPL1 RPE65 TULP1
6 retinoid metabolic process GO:0001523 9.62 ABCA4 LRAT RDH12 RPE65
7 retinol metabolic process GO:0042572 9.61 LRAT RDH12 RPE65
8 regulation of rhodopsin mediated signaling pathway GO:0022400 9.58 AIPL1 GUCY2D PDE6A
9 hindbrain development GO:0030902 9.56 AHI1 CEP290
10 eye photoreceptor cell development GO:0042462 9.56 CEP290 CRB1 RPGRIP1 TULP1
11 detection of light stimulus involved in visual perception GO:0050908 9.55 RPE65 TULP1
12 photoreceptor cell maintenance GO:0045494 9.55 ABCA4 IQCB1 RDH12 SPATA7 TULP1
13 phototransduction, visible light GO:0007603 9.52 ABCA4 AIPL1
14 protein localization to photoreceptor outer segment GO:1903546 9.51 SPATA7 TULP1
15 vitamin A metabolic process GO:0006776 9.49 LRAT RPE65
16 visual perception GO:0007601 9.4 ABCA4 AIPL1 CNGB3 CRX GUCY2D LRAT

Sources for Leber Congenital Amaurosis

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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