MCID: LBR001
MIFTS: 65

Leber Congenital Amaurosis

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 9 and leber congenital amaurosis 3, 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 Methylprednisolone hemisuccinate have been mentioned in the context of this disorder. Affiliated tissues include Eye and Eye, and related phenotypes are abnormality of retinal pigmentation and severely reduced visual acuity

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 131)
# Related Disease Score Top Affiliating Genes
1 leber congenital amaurosis 9 35.5 AIPL1 CRB1 CRX GUCY2D LCA5 NMNAT1
2 leber congenital amaurosis 3 35.4 LCA5 RDH12 RPGRIP1 SPATA7
3 leber congenital amaurosis 4 35.4 AIPL1 CRX GUCY2D PDE6A RPE65
4 leber congenital amaurosis 10 35.4 CEP290 IQCB1 RPE65
5 leber congenital amaurosis 1 35.4 GUCY2D TULP1
6 leber congenital amaurosis 12 35.3 CEP290 GUCY2D RPE65
7 senior-loken syndrome 1 33.7 AHI1 CEP290 IQCB1
8 retinitis pigmentosa 32.3 ABCA4 AHI1 AIPL1 CEP290 CRB1 CRX
9 fundus dystrophy 31.9 ABCA4 AHI1 AIPL1 CEP290 CNGB3 CRB1
10 retinal degeneration 31.9 ABCA4 AIPL1 CRB1 CRX GUCY2D RPE65
11 cone-rod dystrophy 2 31.7 ABCA4 AIPL1 CRX GUCY2D IQCB1 RPE65
12 yemenite deaf-blind hypopigmentation syndrome 31.7 ABCA4 AIPL1 CEP290 CRB1 GUCY2D RPE65
13 keratoconus 31.7 AIPL1 CRB1 GUCY2D RPE65
14 severe early-childhood-onset retinal dystrophy 31.5 ABCA4 LCA5 LRAT RPE65 SPATA7
15 retinal disease 31.2 ABCA4 AIPL1 CEP290 CNGB3 CRB1 CRX
16 stargardt disease 31.2 ABCA4 CNGB3 CRB1 LRAT RDH12 RPE65
17 joubert syndrome 1 31.2 AHI1 CEP290 IQCB1 LCA5 RPGRIP1
18 retinal aplasia 31.2 CEP290 IQCB1
19 nephronophthisis 31.1 AHI1 CEP290 IQCB1 RPGRIP1
20 congenital stationary night blindness 31.1 ABCA4 AIPL1 CNGB3 RPE65
21 leber congenital amaurosis 2 12.9
22 leber congenital amaurosis 15 12.9
23 leber congenital amaurosis 6 12.9
24 leber congenital amaurosis 14 12.9
25 leber congenital amaurosis 8 12.9
26 leber congenital amaurosis 5 12.9
27 leber congenital amaurosis 11 12.9
28 leber congenital amaurosis 7 12.9
29 leber congenital amaurosis 16 12.9
30 leber congenital amaurosis 13 12.9
31 leber congenital amaurosis 17 12.7
32 leber congenital amaurosis with early-onset deafness 12.7
33 leber congenital amaurosis / early-onset severe retinal dystrophy 12.5
34 retinitis pigmentosa 7 12.3
35 littoral cell angioma of the spleen 11.8
36 senior-loken syndrome 5 11.6
37 keratoconus 1 11.4
38 anomalous left coronary artery from the pulmonary artery 11.3
39 leber hereditary optic neuropathy 11.3
40 nystagmus 1, congenital, x-linked 11.3
41 nephronophthisis 14 11.3
42 nephronophthisis 15 11.3
43 joubert syndrome with oculorenal anomalies 11.3
44 congenital muscular dystrophy with cerebellar involvement 11.1
45 retinitis 10.8
46 achromatopsia 3 10.7 AIPL1 CNGB3 CRB1 CRX 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 cone-rod dystrophy 8 10.7 ABCA4 CNGB3 CRX GUCY2D RPGRIP1
50 retinoschisis 1, x-linked, juvenile 10.7 CNGB3 CRB1 CRX RPE65

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 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of retinal pigmentation 60 33 hallmark (90%) Very frequent (99-80%) HP:0007703
2 severely reduced visual acuity 60 33 hallmark (90%) Very frequent (99-80%) HP:0001141
3 abnormality of the optic disc 60 33 hallmark (90%) Very frequent (99-80%) HP:0012795
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

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 46)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 cysteine Phase 2, Phase 3,Phase 1
2
Methylprednisolone hemisuccinate Approved Phase 1, Phase 2 2921-57-5
3
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
4
Prednisolone phosphate Approved, Vet_approved Phase 1, Phase 2 302-25-0
5
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
6
Prednisone Approved, Vet_approved Phase 1, Phase 2 53-03-2 5865
7
Polymyxin B Approved, Vet_approved Phase 1, Phase 2 1404-26-8
8
Trimethoprim Approved, Vet_approved Phase 1, Phase 2 738-70-5 5578
9
leucovorin Approved Phase 1, Phase 2 58-05-9 143 6006
10
Folic Acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 59-30-3 6037
11
Prednisolone hemisuccinate Experimental Phase 1, Phase 2 2920-86-7
12 Anti-Infective Agents Phase 1, Phase 2
13 Hormones Phase 1, Phase 2
14 Vitamin B Complex Phase 1, Phase 2
15 Antimalarials Phase 1, Phase 2
16 Cytochrome P-450 Enzyme Inhibitors Phase 1, Phase 2
17 Prednisolone acetate Phase 1, Phase 2
18 Anti-Bacterial Agents Phase 1, Phase 2
19 Anti-Inflammatory Agents Phase 1, Phase 2
20 Antineoplastic Agents, Hormonal Phase 1, Phase 2
21 Antiparasitic Agents Phase 1, Phase 2
22 Hormone Antagonists Phase 1, Phase 2
23 Polymyxins Phase 1, Phase 2
24 Anti-Infective Agents, Urinary Phase 1, Phase 2
25 Methylprednisolone Acetate Phase 1, Phase 2
26 Vitamin B9 Phase 1, Phase 2
27 Folate Phase 1, Phase 2
28 Antiprotozoal Agents Phase 1, Phase 2
29 Folic Acid Antagonists Phase 1, Phase 2
30 Renal Agents Phase 1, Phase 2
31 glucocorticoids Phase 1, Phase 2
32 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
33 Pharmaceutical Solutions Phase 1, Phase 2
34
acetic acid Approved Phase 1 64-19-7 176
35
Vitamin A Approved, Nutraceutical, Vet_approved Phase 1 68-26-8, 22737-96-8, 11103-57-4 9904001 445354
36 retinol Phase 1
37 Nutrients Phase 1
38 Trace Elements Phase 1
39 Adjuvants, Immunologic Phase 1
40 Lecithin Phase 1
41 Vitamins Phase 1
42
Retinol acetate Phase 1 127-47-9 10245972
43 Retinol palmitate Phase 1
44 Protective Agents Phase 1
45 Micronutrients Phase 1
46 Immunologic Factors Phase 1

Interventional clinical trials:

(show all 25)
# Name Status NCT ID Phase Drugs
1 Multi-dose Study for Efficacy, Safety, Tolerability, Exposure of QR-110 in LCA10 Recruiting NCT03913143 Phase 2, Phase 3 QR-110
2 Safety and Efficacy Study in Subjects With Leber Congenital Amaurosis Active, not recruiting NCT00999609 Phase 3
3 Phase 1/2 Safety and Efficacy Study of AAV-RPE65 Vector to Treat Leber Congenital Amaurosis Completed NCT00749957 Phase 1, Phase 2
4 Clinical Gene Therapy Protocol for the Treatment of Retinal Dystrophy Caused by Defects in RPE65 Completed NCT01496040 Phase 1, Phase 2 rAAV2/4.hRPE65
5 Safety Study of RPE65 Gene Therapy to Treat Leber Congenital Amaurosis Completed NCT00643747 Phase 1, Phase 2
6 Clinical Trial of Gene Therapy for the Treatment of Leber Congenital Amaurosis (LCA) Recruiting NCT02781480 Phase 1, Phase 2
7 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
8 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
9 Study of Subretinally Injected SAR439483 Administered in Patients With Leber Congenital Amaurosis Caused by Biallelic Mutations in GUCY2D Not yet recruiting NCT03920007 Phase 1, Phase 2 SAR439483;SAR439483 Diluent Solution;Prednisone;Triamcinalone Acetonide;1% Prednisolone;Trimethoprim/polymyxin B
10 Single Ascending Dose Study in Participants With LCA10 Not yet recruiting NCT03872479 Phase 1, Phase 2 AGN-151587
11 Extension Study to Study PQ-110-001 (NCT03140969) Not yet recruiting NCT03913130 Phase 1, Phase 2 QR-110
12 Clinical Trial of Gene Therapy for Leber Congenital Amaurosis Caused by RPE65 Mutations Completed NCT00821340 Phase 1
13 Repeated Treatments of QLT091001 in Subjects With Leber Congenital Amaurosis or Retinitis Pigmentosa (Extension of Study RET IRD 01) Completed NCT01521793 Phase 1 QLT091001
14 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
15 Safety Study in Subjects With Leber Congenital Amaurosis Active, not recruiting NCT00516477 Phase 1
16 Phase I Trial of Gene Vector to Patients With Retinal Disease Due to RPE65 Mutations Active, not recruiting NCT00481546 Phase 1
17 Genetic Decryption of Leber Congenital Amaurosis (LCA) in a Large Cohort of Independent Families. Completed NCT02970266
18 Natural History Study in Inherited Retinal Disease Subjects Caused by Mutations in RPE65 or LRAT Completed NCT02575430
19 Natural History Study of Patients With Leber Congenital Amaurosis Associated With Mutations in RPE65 Recruiting NCT02714816
20 Treatment of RP and LCA by Primary RPE Transplantation Recruiting NCT03566147 Early Phase 1
21 Long-Term Follow-Up Gene Therapy Study for Leber Congenital Amaurosis OPTIRPE65 (Retinal Dystrophy Associated With Defects in RPE65) Recruiting NCT02946879
22 A Patient Registry Study for Patients Treated With Voretigene Neparvovec Recruiting NCT03597399
23 Natural History Study of CEP290-Related Retinal Degeneration Recruiting NCT03396042
24 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
25 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, Liver, Brain, Testes, Pineal, Thymus
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 599)
# Title Authors Year
1
Loss of CRB2 in Müller glial cells modifies a CRB1-associated retinitis pigmentosa phenotype into a Leber congenital amaurosis phenotype. ( 30239717 )
2019
2
Biallelic mutations in USP45, encoding a deubiquitinating enzyme, are associated with Leber congenital amaurosis. ( 30573563 )
2019
3
Development of a gene-editing approach to restore vision loss in Leber congenital amaurosis type 10. ( 30664785 )
2019
4
A high prevalence of biallelic RPE65 mutations in Costa Rican children with Leber congenital amaurosis and early-onset retinal dystrophy. ( 30870047 )
2019
5
Seven novel variants expand the spectrum of RPE65-related Leber congenital amaurosis in the Chinese population. ( 30996589 )
2019
6
Leber Congenital Amaurosis (LCA): Potential for Improvement of Vision. ( 31009524 )
2019
7
CRB1-Related Leber Congenital Amaurosis: Reporting Novel Pathogenic Variants and a Brief Review on Mutations Spectrum ( 31103025 )
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
Life cycle assessment (LCA) of food waste treatment in Hong Kong: On-site fermentation methodology. ( 30953987 )
2019
17
Soil quality index: Exploring options for a comprehensive assessment of land use impacts in LCA. ( 31007413 )
2019
18
Biogas production by means of an anaerobic-digestion plant in France: LCA of greenhouse-gas emissions and other environmental indicators. ( 31018437 )
2019
19
Biowaste-to-Biomethane: An LCA study on biogas and syngas roads. ( 31109545 )
2019
20
Cradle-to-grave life cycle assessment (LCA) of low-impact-development (LID) technologies in southern Ontario. ( 30340137 )
2019
21
Development and testing of the Product Environmental Footprint Milk Tool: A comprehensive LCA tool for dairy products. ( 30340305 )
2019
22
Spatially explicit LCA analysis of biodiversity losses due to different bioenergy policies in the European Union. ( 30360280 )
2019
23
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
24
A tool to guide the selection of impact categories for LCA studies by using the representativeness index. ( 30583172 )
2019
25
Modeling pharmaceutical emissions and their toxicity-related effects in life cycle assessment (LCA): A review. ( 30242966 )
2019
26
LCA of an ice cream cup of polyethylene coated paper: how does the choice of the end-of-life affect the results? ( 29072120 )
2019
27
A Chinese family with autosomal recessive congenital ichthyosis and Leber congenital amaurosis due to mutations in PNPLA1 and LCA5. ( 29400301 )
2018
28
Severe Loss of Tritan Color Discrimination in RPE65 Associated Leber Congenital Amaurosis. ( 29332120 )
2018
29
Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies. ( 29398085 )
2018
30
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
31
Antisense Oligonucleotide-Based Splicing Correction in Individuals with Leber Congenital Amaurosis due to Compound Heterozygosity for the c.2991+1655A>G Mutation in CEP290. ( 29518907 )
2018
32
Prevention of Leber congenital amaurosis through preimplantation genetic diagnosis. ( 29548835 )
2018
33
A complete, homozygous CRX deletion causing nullizygosity is a new genetic mechanism for Leber congenital amaurosis. ( 29568065 )
2018
34
NMNAT1 E257K variant, associated with Leber Congenital Amaurosis (LCA9), causes a mild retinal degeneration phenotype. ( 29674119 )
2018
35
Overexpression of Type 3 Iodothyronine Deiodinase Reduces Cone Death in the Leber Congenital Amaurosis Model Mice. ( 29721936 )
2018
36
A Mini-Review: Leber Congenital Amaurosis: Identification of Disease-Causing Variants and Personalised Therapies. ( 29721952 )
2018
37
The Leber Congenital Amaurosis-Linked Protein AIPL1 and Its Critical Role in Photoreceptors. ( 29721967 )
2018
38
Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing. ( 29844330 )
2018
39
Deficiency of type 2 iodothyronine deiodinase reduces necroptosis activity and oxidative stress responses in retinas of Leber congenital amaurosis model mice. ( 29874126 )
2018
40
Parapapillary Optic Nerve Head Drusen in Leber Congenital Amaurosis. ( 30021046 )
2018
41
A Cross-Sectional and Longitudinal Study of Retinal Sensitivity in RPE65-Associated Leber Congenital Amaurosis. ( 30025081 )
2018
42
Correction: Development of an optimized AAV2/5 gene therapy vector for Leber congenital amaurosis owing to defects in RPE65. ( 30046128 )
2018
43
A novel variant in IDH3A identified in a case with Leber congenital amaurosis accompanied by macular pseudocoloboma. ( 30058936 )
2018
44
Generation of a human iPSC line from a patient with Leber congenital amaurosis caused by mutation in AIPL1. ( 30366342 )
2018
45
Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect. ( 30559420 )
2018
46
Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis. ( 30576320 )
2018
47
Leber Congenital Amaurosis. ( 30578499 )
2018
48
Rescue of cone function in cone-only Nphp5 knockout mouse model with Leber congenital amaurosis phenotype. ( 30713422 )
2018
49
Swept-Source OCT of a Macular Coloboma in NMNAT1-Leber Congenital Amaurosis. ( 31047491 )
2018
50
Gene Therapy Using a miniCEP290 Fragment Delays Photoreceptor Degeneration in a Mouse Model of Leber Congenital Amaurosis. ( 28679290 )
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 LCA5 NM_181714.3(LCA5): c.835C> T (p.Gln279Ter) single nucleotide variant Pathogenic rs121918165 GRCh37 Chromosome 6, 80203353: 80203353
2 LCA5 NM_181714.3(LCA5): c.835C> T (p.Gln279Ter) single nucleotide variant Pathogenic rs121918165 GRCh38 Chromosome 6, 79493636: 79493636
3 CEP290 NM_025114.3(CEP290): c.21G> T (p.Trp7Cys) single nucleotide variant Pathogenic rs62635288 GRCh37 Chromosome 12, 88535064: 88535064
4 CEP290 NM_025114.3(CEP290): c.21G> T (p.Trp7Cys) single nucleotide variant Pathogenic rs62635288 GRCh38 Chromosome 12, 88141287: 88141287
5 IQCB1 NM_001023570.3(IQCB1): c.424_425delTT (p.Phe142Profs) deletion Pathogenic rs750962965 GRCh38 Chromosome 3, 121808978: 121808979
6 IQCB1 NM_001023570.3(IQCB1): c.424_425delTT (p.Phe142Profs) deletion Pathogenic rs750962965 GRCh37 Chromosome 3, 121527825: 121527826
7 FSCN2 NM_001077182.2(FSCN2): c.72delG (p.Thr25Glnfs) deletion Conflicting interpretations of pathogenicity rs376633374 GRCh37 Chromosome 17, 79495629: 79495629
8 FSCN2 NM_001077182.2(FSCN2): c.72delG (p.Thr25Glnfs) deletion Conflicting interpretations of pathogenicity rs376633374 GRCh38 Chromosome 17, 81528603: 81528603
9 RPGRIP1 NM_020366.3(RPGRIP1): c.1639G> T (p.Ala547Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs10151259 GRCh37 Chromosome 14, 21790040: 21790040
10 RPGRIP1 NM_020366.3(RPGRIP1): c.1639G> T (p.Ala547Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs10151259 GRCh38 Chromosome 14, 21321881: 21321881
11 RPGRIP1 NM_020366.3(RPGRIP1): c.3341A> G (p.Asp1114Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs17103671 GRCh37 Chromosome 14, 21811196: 21811196
12 RPGRIP1 NM_020366.3(RPGRIP1): c.3341A> G (p.Asp1114Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs17103671 GRCh38 Chromosome 14, 21343037: 21343037
13 CNGB3 NM_019098.4(CNGB3): c.1148delC (p.Thr383Ilefs) deletion Conflicting interpretations of pathogenicity rs397515360 GRCh37 Chromosome 8, 87656009: 87656009
14 CNGB3 NM_019098.4(CNGB3): c.1148delC (p.Thr383Ilefs) deletion Conflicting interpretations of pathogenicity rs397515360 GRCh38 Chromosome 8, 86643781: 86643781
15 AIPL1 NM_014336.4(AIPL1): c.834G> A (p.Trp278Ter) single nucleotide variant Pathogenic rs62637014 GRCh37 Chromosome 17, 6329101: 6329101
16 AIPL1 NM_014336.4(AIPL1): c.834G> A (p.Trp278Ter) single nucleotide variant Pathogenic rs62637014 GRCh38 Chromosome 17, 6425781: 6425781
17 CRB1 NM_201253.2(CRB1): c.484G> A (p.Val162Met) single nucleotide variant Conflicting interpretations of pathogenicity rs137853138 GRCh37 Chromosome 1, 197297965: 197297965
18 CRB1 NM_201253.2(CRB1): c.484G> A (p.Val162Met) single nucleotide variant Conflicting interpretations of pathogenicity rs137853138 GRCh38 Chromosome 1, 197328835: 197328835
19 PEX1 NM_000466.2(PEX1): c.2528G> A (p.Gly843Asp) single nucleotide variant Pathogenic rs61750420 GRCh37 Chromosome 7, 92130876: 92130876
20 PEX1 NM_000466.2(PEX1): c.2528G> A (p.Gly843Asp) single nucleotide variant Pathogenic rs61750420 GRCh38 Chromosome 7, 92501562: 92501562
21 IQCB1 NM_001023570.3(IQCB1): c.1036G> T (p.Glu346Ter) single nucleotide variant Pathogenic rs387907009 GRCh37 Chromosome 3, 121509013: 121509013
22 IQCB1 NM_001023570.3(IQCB1): c.1036G> T (p.Glu346Ter) single nucleotide variant Pathogenic rs387907009 GRCh38 Chromosome 3, 121790166: 121790166
23 NMNAT1 NM_022787.3(NMNAT1): c.769G> A (p.Glu257Lys) single nucleotide variant Pathogenic/Likely pathogenic rs150726175 GRCh37 Chromosome 1, 10042688: 10042688
24 NMNAT1 NM_022787.3(NMNAT1): c.769G> A (p.Glu257Lys) single nucleotide variant Pathogenic/Likely pathogenic rs150726175 GRCh38 Chromosome 1, 9982630: 9982630
25 AIPL1 NM_014336.4(AIPL1): c.1126C> T (p.Pro376Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs61757484 GRCh37 Chromosome 17, 6328809: 6328809
26 AIPL1 NM_014336.4(AIPL1): c.1126C> T (p.Pro376Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs61757484 GRCh38 Chromosome 17, 6425489: 6425489
27 AIPL1 NM_014336.4(AIPL1): c.905G> T (p.Arg302Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs62637015 GRCh37 Chromosome 17, 6329030: 6329030
28 AIPL1 NM_014336.4(AIPL1): c.905G> T (p.Arg302Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs62637015 GRCh38 Chromosome 17, 6425710: 6425710
29 TULP1 NM_003322.4(TULP1): c.783G> C (p.Lys261Asn) single nucleotide variant Benign rs2064318 GRCh37 Chromosome 6, 35477025: 35477025
30 TULP1 NM_003322.4(TULP1): c.783G> C (p.Lys261Asn) single nucleotide variant Benign rs2064318 GRCh38 Chromosome 6, 35509248: 35509248
31 AIPL1 NM_014336.4(AIPL1): c.267C> T (p.Cys89=) single nucleotide variant Conflicting interpretations of pathogenicity rs62653020 GRCh37 Chromosome 17, 6337248: 6337248
32 AIPL1 NM_014336.4(AIPL1): c.267C> T (p.Cys89=) single nucleotide variant Conflicting interpretations of pathogenicity rs62653020 GRCh38 Chromosome 17, 6433928: 6433928
33 AIPL1 NM_014336.4(AIPL1): c.516T> C (p.His172=) single nucleotide variant Conflicting interpretations of pathogenicity rs62637017 GRCh37 Chromosome 17, 6330327: 6330327
34 AIPL1 NM_014336.4(AIPL1): c.516T> C (p.His172=) single nucleotide variant Conflicting interpretations of pathogenicity rs62637017 GRCh38 Chromosome 17, 6427007: 6427007
35 SPATA7 NM_018418.4(SPATA7): c.4G> A (p.Asp2Asn) single nucleotide variant Benign/Likely benign rs4904448 GRCh37 Chromosome 14, 88852166: 88852166
36 SPATA7 NM_018418.4(SPATA7): c.4G> A (p.Asp2Asn) single nucleotide variant Benign/Likely benign rs4904448 GRCh38 Chromosome 14, 88385822: 88385822
37 SPATA7 NM_018418.4(SPATA7): c.729C> T (p.Arg243=) single nucleotide variant Conflicting interpretations of pathogenicity rs151338404 GRCh37 Chromosome 14, 88892932: 88892932
38 SPATA7 NM_018418.4(SPATA7): c.729C> T (p.Arg243=) single nucleotide variant Conflicting interpretations of pathogenicity rs151338404 GRCh38 Chromosome 14, 88426588: 88426588
39 RPGRIP1 NM_020366.3(RPGRIP1): c.2775G> A (p.Trp925Ter) single nucleotide variant Pathogenic rs398124354 GRCh37 Chromosome 14, 21795846: 21795846
40 RPGRIP1 NM_020366.3(RPGRIP1): c.2775G> A (p.Trp925Ter) single nucleotide variant Pathogenic rs398124354 GRCh38 Chromosome 14, 21327687: 21327687
41 CEP290 NM_025114.3(CEP290): c.2055T> C (p.Ala685=) single nucleotide variant Benign/Likely benign rs45465996 GRCh37 Chromosome 12, 88505633: 88505633
42 CEP290 NM_025114.3(CEP290): c.2055T> C (p.Ala685=) single nucleotide variant Benign/Likely benign rs45465996 GRCh38 Chromosome 12, 88111856: 88111856
43 CEP290 NM_025114.3(CEP290): c.3574-9delT deletion Benign rs10717563 GRCh37 Chromosome 12, 88483273: 88483273
44 CEP290 NM_025114.3(CEP290): c.3574-9delT deletion Benign rs10717563 GRCh38 Chromosome 12, 88089496: 88089496
45 CEP290 NM_025114.3(CEP290): c.4237G> C (p.Asp1413His) single nucleotide variant Conflicting interpretations of pathogenicity rs183655276 GRCh37 Chromosome 12, 88480233: 88480233
46 CEP290 NM_025114.3(CEP290): c.4237G> C (p.Asp1413His) single nucleotide variant Conflicting interpretations of pathogenicity rs183655276 GRCh38 Chromosome 12, 88086456: 88086456
47 CRB1 NM_201253.2(CRB1): c.71-12A> T single nucleotide variant Benign rs12042179 GRCh37 Chromosome 1, 197297540: 197297540
48 CRB1 NM_201253.2(CRB1): c.71-12A> T single nucleotide variant Benign rs12042179 GRCh38 Chromosome 1, 197328410: 197328410
49 RPE65 NM_000329.2(RPE65): c.1056G> A (p.Glu352=) single nucleotide variant Benign/Likely benign rs12145904 GRCh37 Chromosome 1, 68903942: 68903942
50 RPE65 NM_000329.2(RPE65): c.1056G> A (p.Glu352=) single nucleotide variant Benign/Likely benign rs12145904 GRCh38 Chromosome 1, 68438259: 68438259

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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