MCID: LBR001
MIFTS: 64

Leber Congenital Amaurosis

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

Aliases & Classifications for Leber Congenital Amaurosis

MalaCards integrated aliases for Leber Congenital Amaurosis:

Name: Leber Congenital Amaurosis 38 12 53 25 59 37 29 6 44 15 40 73
Leber's Amaurosis 12 53 25
Lca 12 53 25
Congenital Amaurosis of Retinal Origin 25 73
Congenital Retinal Blindness 53 25
Leber's Disease 12 76
Leber's Congenital Tapetoretinal Degeneration 53
Leber Congenital Tapetoretinal Degeneration 25
Leber's Congenital Tapetoretinal Dysplasia 53
Hereditary Epithelial Dysplasia of Retina 25
Congenital Absence of the Rods and Cones 53
Amaurosis Congenita of Leber, Type 1 73
Dysgenesis Neuroepithelialis Retinae 25
Optic Atrophy, Hereditary, Leber 73
Heredoretinopathia Congenitalis 25
Leber's Congenital Amaurosis 12
Amaurosis Congenita of Leber 59
Amaurosis, Leber Congenital 25
Lebers Congenital Amaurosis 55
Hereditary Retinal Aplasia 25
Leber Abiotrophy 25
Crb 25

Characteristics:

Orphanet epidemiological data:

59
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: 59  
Rare eye diseases


Summaries for Leber Congenital Amaurosis

NIH Rare Diseases : 53 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 leber's amaurosis, is related to leber congenital amaurosis 4 and leber congenital amaurosis 10, and has symptoms including ataxia, static tremor and photophobia. An important gene associated with Leber Congenital Amaurosis is LCA5 (LCA5, Lebercilin), 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 hearing impairment and abnormal electroretinogram

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 : 25 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 : 76 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 72)
# Related Disease Score Top Affiliating Genes
1 leber congenital amaurosis 4 36.1 AIPL1 CRX GUCY2D PDE6A RPE65
2 leber congenital amaurosis 10 36.0 CEP290 IQCB1 RPE65
3 leber congenital amaurosis 9 36.0 AIPL1 CRB1 CRX GUCY2D LCA5 NMNAT1
4 leber congenital amaurosis 12 36.0 CEP290 GUCY2D RPE65
5 leber congenital amaurosis 3 36.0 LCA5 RDH12 RPGRIP1 SPATA7
6 retinitis pigmentosa 32.8 ABCA4 AIPL1 CEP290 CRB1 CRX GUCY2D
7 fundus dystrophy 32.6 ABCA4 AIPL1 CEP290 CNGB3 CRB1 CRX
8 retinal degeneration 32.6 ABCA4 AIPL1 CRB1 CRX GUCY2D RPE65
9 keratoconus 32.4 AIPL1 CRB1 CRX GUCY2D RPE65
10 cone-rod dystrophy 2 32.4 ABCA4 AIPL1 CNGB3 CRB1 CRX GUCY2D
11 severe early-childhood-onset retinal dystrophy 32.2 ABCA4 LCA5 LRAT RPE65 SPATA7
12 retinal disease 32.0 ABCA4 AIPL1 CEP290 CNGB3 CRB1 CRX
13 stargardt disease 31.9 ABCA4 CNGB3 CRB1 LRAT RDH12 RPE65
14 joubert syndrome 1 31.8 CEP290 IQCB1 LCA5 RPGRIP1
15 leber congenital amaurosis 2 12.7
16 leber congenital amaurosis 15 12.6
17 leber congenital amaurosis 1 12.6
18 leber congenital amaurosis 6 12.6
19 leber congenital amaurosis 14 12.6
20 leber congenital amaurosis 8 12.6
21 leber congenital amaurosis 11 12.6
22 leber congenital amaurosis 5 12.6
23 leber congenital amaurosis 7 12.6
24 leber congenital amaurosis 13 12.6
25 leber congenital amaurosis 16 12.6
26 leber congenital amaurosis 17 12.6
27 leber congenital amaurosis with early-onset deafness 12.5
28 retinitis pigmentosa 7 11.9
29 senior-loken syndrome 1 11.6
30 hereditary retinal dystrophy 11.4 CEP290 GUCY2D LCA5 SPATA7
31 achromatopsia 3 11.4 AIPL1 CNGB3 CRB1 CRX GUCY2D RPE65
32 yemenite deaf-blind hypopigmentation syndrome 11.4 ABCA4 AIPL1 CEP290 GUCY2D RPE65
33 prolonged electroretinal response suppression 11.3 ABCA4 CRB1 CRX GUCY2D
34 retinoschisis 1, x-linked, juvenile 11.3 CNGB3 CRB1 CRX RPE65
35 macular dystrophy, concentric annular 11.3 ABCA4 CRX
36 stargardt disease 1 11.2 ABCA4 CNGB3 CRX
37 retinitis pigmentosa 3 11.2 ABCA4 IQCB1 RPGRIP1
38 red-green color blindness 11.2 ABCA4 CNGB3 RPE65
39 senior-løken syndrome 11.2 CEP290 IQCB1
40 congenital stationary night blindness 11.2 ABCA4 AIPL1 CNGB3 RPE65
41 macular dystrophy, dominant cystoid 11.2 CRB1 PDE6A
42 leber hereditary optic neuropathy 11.1
43 cone-rod dystrophy 6 11.1 CNGB3 GUCY2D
44 trehalase deficiency 11.1 CNGB3 CRB1 GUCY2D LCA5 PDE6A
45 nystagmus 1, congenital, x-linked 11.1
46 senior-loken syndrome 5 11.1
47 nephronophthisis 14 11.1
48 nephronophthisis 15 11.1
49 joubert syndrome with oculorenal anomalies 11.1
50 retinal aplasia 11.1 CEP290 IQCB1

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:

59 32 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
2 abnormal electroretinogram 59 32 frequent (33%) Frequent (79-30%) HP:0000512
3 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
4 keratoconus 59 32 frequent (33%) Frequent (79-30%) HP:0000563
5 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
6 severe visual impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0001141
7 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
8 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
9 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
10 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001263
11 encephalocele 59 32 frequent (33%) Frequent (79-30%) HP:0002084
12 abnormality of neuronal migration 59 32 frequent (33%) Frequent (79-30%) HP:0002269
13 hemiplegia/hemiparesis 59 32 frequent (33%) Frequent (79-30%) HP:0004374
14 aplasia/hypoplasia of the cerebellar vermis 59 32 frequent (33%) Frequent (79-30%) HP:0006817
15 abnormality of retinal pigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007703
16 abnormality of the optic disc 59 32 hallmark (90%) Very frequent (99-80%) HP:0012795

UMLS symptoms related to Leber Congenital Amaurosis:


ataxia, static tremor, photophobia

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.16 GUCY2D
2 Decreased viability GR00221-A-1 10.16 RPGRIP1 GUCY2D
3 Decreased viability GR00221-A-2 10.16 RPGRIP1 GUCY2D
4 Decreased viability GR00221-A-3 10.16 GUCY2D
5 Decreased viability GR00221-A-4 10.16 RPGRIP1 GUCY2D
6 Decreased viability GR00240-S-1 10.16 GUCY2D
7 Decreased viability GR00301-A 10.16 RPGRIP1
8 Decreased viability GR00381-A-1 10.16 RPGRIP1 LRAT
9 Decreased viability GR00402-S-2 10.16 ABCA4 AIPL1 SPATA7 CEP290 TULP1 CLUAP1
10 no effect GR00402-S-1 9.62 RPE65 RPGRIP1 SPATA7 TULP1 ABCA4 AIPL1

MGI Mouse Phenotypes related to Leber Congenital Amaurosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.11 ABCA4 AIPL1 CEP290 CLUAP1 CNGB3 CRB1
2 vision/eye MP:0005391 9.58 SPATA7 TULP1 ABCA4 AIPL1 CEP290 CNGB3
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 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 11103-57-4, 68-26-8 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 19)
# 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 Completed 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
19 Treatment of RP and LCA by Primary RPE Transplantation Not yet recruiting NCT03566147 Early Phase 1

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 29

Anatomical Context for Leber Congenital Amaurosis

MalaCards organs/tissues related to Leber Congenital Amaurosis:

41
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 320)
# Title Authors Year
1
Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing. ( 29844330 )
2018
2
A complete, homozygous CRX deletion causing nullizygosity is a new genetic mechanism for Leber congenital amaurosis. ( 29568065 )
2018
3
Genetic profile and mutation spectrum of Leber congenital amaurosis in a larger Indian cohort using high throughput targeted re-sequencing. ( 29068479 )
2018
4
Severe Loss of Tritan Color Discrimination in RPE65 Associated Leber Congenital Amaurosis. ( 29332120 )
2018
5
Prevention of Leber congenital amaurosis through preimplantation genetic diagnosis. ( 29548835 )
2018
6
Deficiency of type 2 iodothyronine deiodinase reduces necroptosis activity and oxidative stress responses in retinas of Leber congenital amaurosis model mice. ( 29874126 )
2018
7
Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies. ( 29398085 )
2018
8
NMNAT1 E257K variant, associated with Leber Congenital Amaurosis (LCA9), causes a mild retinal degeneration phenotype. ( 29674119 )
2018
9
Safety and Long-Term Efficacy of AAV4 Gene Therapy in Patients with RPE65 Leber Congenital Amaurosis. ( 29033008 )
2018
10
A Chinese family with autosomal recessive congenital ichthyosis and Leber congenital amaurosis due to mutations in PNPLA1 and LCA5. ( 29400301 )
2018
11
Overexpression of Type 3 Iodothyronine Deiodinase Reduces Cone Death in the Leber Congenital Amaurosis Model Mice. ( 29721936 )
2018
12
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
13
The Leber Congenital Amaurosis-Linked Protein AIPL1 and Its Critical Role in Photoreceptors. ( 29721967 )
2018
14
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
15
Identification of a novel RPGRIP1 mutation in an Iranian family with leber congenital amaurosis by exome sequencing. ( 29193763 )
2018
16
A Mini-Review: Leber Congenital Amaurosis: Identification of Disease-Causing Variants and Personalised Therapies. ( 29721952 )
2018
17
Peripapillary sparing in RDH12-associated Leber congenital amaurosis. ( 28513254 )
2017
18
Defining Outcomes for Clinical Trials of Leber Congenital Amaurosis Caused by GUCY2D Mutations. ( 28212877 )
2017
19
Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions. ( 28689169 )
2017
20
Phenotype-genotype correlation with Sanger sequencing identified retinol dehydrogenase 12 (RDH12) compound heterozygous variants in a Chinese family with Leber congenital amaurosis. ( 28471114 )
2017
21
Gene Therapy Using a miniCEP290 Fragment Delays Photoreceptor Degeneration in a Mouse Model of Leber Congenital Amaurosis. ( 28679290 )
2017
22
A Gene Scan Study of<i>RPE65</i>in Chinese Patients with Leber Congenital Amaurosis. ( 29133760 )
2017
23
Diagnostic application of clinical exome sequencing in Leber congenital amaurosis. ( 28966547 )
2017
24
The genetic profile of Leber congenital amaurosis in an Australian cohort. ( 29178642 )
2017
25
CRISPR/Cas9-Mediated Genome Editing as a Therapeutic Approach for Leber Congenital Amaurosis 10. ( 28109959 )
2017
26
Outcome Measures for Clinical Trials of Leber Congenital Amaurosis Caused by the Intronic Mutation in the CEP290 Gene. ( 28510626 )
2017
27
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
28
Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy. ( 29186038 )
2017
29
Leber congenital amaurosis, from darkness to light: An ode to Irene Maumenee. ( 28095138 )
2017
30
Available Evidence on Leber Congenital Amaurosis and Gene Therapy. ( 27686653 )
2017
31
Whole Exome Sequencing in Eight Thai Patients With Leber Congenital Amaurosis Reveals Mutations in the CTNNA1 and CYP4V2 Genes. ( 28453600 )
2017
32
LEBER CONGENITAL AMAUROSIS WITH LARGE RETINAL PIGMENT CLUMPS CAUSED BY COMPOUND HETEROZYGOUS MUTATIONS IN KCNJ13. ( 27203561 )
2016
33
A Mini-review: Animal Models of GUCY2D Leber Congenital Amaurosis (LCA1). ( 26427419 )
2016
34
Functional study of two biochemically unusual mutations in GUCY2D Leber congenital amaurosis expressed via adenoassociated virus vector in mouse retinas. ( 27881908 )
2016
35
Molecular genetics of Leber congenital amaurosis in Chinese: New data from 66 probands and mutation overview of 159 probands. ( 27375279 )
2016
36
Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis inA a large kindred. ( 27475985 )
2016
37
Overlap of abnormal photoreceptor development and progressive degeneration in Leber congenital amaurosis caused by NPHP5 mutation. ( 27506978 )
2016
38
Development of an optimized AAV2/5 gene therapy vector for Leber congenital amaurosis owing to defects in RPE65. ( 27653967 )
2016
39
Personalized models reveal mechanistic and therapeutic insights into CEP290-associated Leber congenital amaurosis. ( 27868047 )
2016
40
Omics in Ophthalmology: Advances in Genomics and Precision Medicine for Leber Congenital Amaurosis and Age-Related Macular Degeneration. ( 27010695 )
2016
41
CrxRdy Cat: A Large Animal Model for CRX-Associated Leber Congenital Amaurosis. ( 27427859 )
2016
42
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
43
Leber Congenital Amaurosis: Genotypes and Retinal Structure Phenotypes. ( 26427408 )
2016
44
Comprehensive analysis of genetic variations in strictly-defined Leber congenital amaurosis with whole-exome sequencing in Chinese. ( 27672588 )
2016
45
A Novel Recessive RPGRIP1 Mutation Causing Leber Congenital Amaurosis. ( 27116508 )
2016
46
Pharmacological Amelioration of Cone Survival and Vision in a Mouse Model for Leber Congenital Amaurosis. ( 27225770 )
2016
47
Clinical and genetic characteristics of Leber congenital amaurosis with novel mutations in known genes based on a Chinese eastern coast Han population. ( 27422788 )
2016
48
Results at 2 Years after Gene Therapy for RPE65-Deficient Leber Congenital Amaurosis and Severe Early-Childhood-Onset Retinal Dystrophy. ( 27102010 )
2016
49
CCT2 Mutations Evoke Leber Congenital Amaurosis due to Chaperone Complex Instability. ( 27645772 )
2016
50
Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1. ( 26820066 )
2016

Variations for Leber Congenital Amaurosis

ClinVar genetic disease variations for Leber Congenital Amaurosis:

6
(show top 50) (show all 1349)
# 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 AIPL1 NM_014336.4(AIPL1): c.834G> A (p.Trp278Ter) single nucleotide variant Pathogenic rs62637014 GRCh37 Chromosome 17, 6329101: 6329101
8 AIPL1 NM_014336.4(AIPL1): c.834G> A (p.Trp278Ter) single nucleotide variant Pathogenic rs62637014 GRCh38 Chromosome 17, 6425781: 6425781
9 PEX1 NM_000466.2(PEX1): c.2528G> A (p.Gly843Asp) single nucleotide variant Pathogenic rs61750420 GRCh37 Chromosome 7, 92130876: 92130876
10 PEX1 NM_000466.2(PEX1): c.2528G> A (p.Gly843Asp) single nucleotide variant Pathogenic rs61750420 GRCh38 Chromosome 7, 92501562: 92501562
11 IQCB1 NM_001023570.3(IQCB1): c.1036G> T (p.Glu346Ter) single nucleotide variant Pathogenic rs387907009 GRCh37 Chromosome 3, 121509013: 121509013
12 IQCB1 NM_001023570.3(IQCB1): c.1036G> T (p.Glu346Ter) single nucleotide variant Pathogenic rs387907009 GRCh38 Chromosome 3, 121790166: 121790166
13 NMNAT1 NM_022787.3(NMNAT1): c.769G> A (p.Glu257Lys) single nucleotide variant Pathogenic rs150726175 GRCh37 Chromosome 1, 10042688: 10042688
14 NMNAT1 NM_022787.3(NMNAT1): c.769G> A (p.Glu257Lys) single nucleotide variant Pathogenic rs150726175 GRCh38 Chromosome 1, 9982630: 9982630
15 ABCA4 NM_000350.2(ABCA4): c.2041C> T (p.Arg681Ter) single nucleotide variant Pathogenic rs61749423 GRCh37 Chromosome 1, 94526212: 94526212
16 ABCA4 NM_000350.2(ABCA4): c.2041C> T (p.Arg681Ter) single nucleotide variant Pathogenic rs61749423 GRCh38 Chromosome 1, 94060656: 94060656
17 RBP1 NM_002899.3(RBP1): c.387_400delTGGGAAGGAGTTTG (p.Lys131Glyfs) deletion Uncertain significance rs587783020 GRCh38 Chromosome 3, 139538819: 139538832
18 RBP1 NM_002899.3(RBP1): c.387_400delTGGGAAGGAGTTTG (p.Lys131Glyfs) deletion Uncertain significance rs587783020 GRCh37 Chromosome 3, 139257661: 139257674
19 RIMS1 NM_014989.5(RIMS1): c.3139delA (p.Thr1047Hisfs) deletion Uncertain significance rs587783021 GRCh38 Chromosome 6, 72264997: 72264997
20 RIMS1 NM_014989.5(RIMS1): c.3139delA (p.Thr1047Hisfs) deletion Uncertain significance rs587783021 GRCh37 Chromosome 6, 72974700: 72974700
21 NPHP3 NM_153240.4(NPHP3): c.1735A> C (p.Thr579Pro) single nucleotide variant Uncertain significance rs587783022 GRCh37 Chromosome 3, 132419186: 132419186
22 NPHP3 NM_153240.4(NPHP3): c.1735A> C (p.Thr579Pro) single nucleotide variant Uncertain significance rs587783022 GRCh38 Chromosome 3, 132700342: 132700342
23 USH2A NM_206933.2(USH2A): c.2414G> C (p.Gly805Ala) single nucleotide variant Uncertain significance rs587783023 GRCh37 Chromosome 1, 216420322: 216420322
24 USH2A NM_206933.2(USH2A): c.2414G> C (p.Gly805Ala) single nucleotide variant Uncertain significance rs587783023 GRCh38 Chromosome 1, 216246980: 216246980
25 LRP5 NM_002335.3(LRP5): c.1697G> A (p.Arg566His) single nucleotide variant Uncertain significance rs587783024 GRCh38 Chromosome 11, 68403595: 68403595
26 LRP5 NM_002335.3(LRP5): c.1697G> A (p.Arg566His) single nucleotide variant Uncertain significance rs587783024 GRCh37 Chromosome 11, 68171063: 68171063
27 NPHP1 NM_000272.3(NPHP1): c.625-3dupT duplication Uncertain significance rs200118387 GRCh38 Chromosome 2, 110165158: 110165158
28 NPHP1 NM_000272.3(NPHP1): c.625-3dupT duplication Uncertain significance rs200118387 GRCh37 Chromosome 2, 110922735: 110922735
29 USH2A NM_206933.2(USH2A): c.4758+3A> G single nucleotide variant Benign rs117798425 GRCh37 Chromosome 1, 216270422: 216270422
30 USH2A NM_206933.2(USH2A): c.4758+3A> G single nucleotide variant Benign rs117798425 GRCh38 Chromosome 1, 216097080: 216097080
31 GUCA1B NM_002098.5(GUCA1B): c.103G> A (p.Gly35Ser) single nucleotide variant Uncertain significance rs587783025 GRCh38 Chromosome 6, 42194718: 42194718
32 GUCA1B NM_002098.5(GUCA1B): c.103G> A (p.Gly35Ser) single nucleotide variant Uncertain significance rs587783025 GRCh37 Chromosome 6, 42162456: 42162456
33 NPHP4 NM_015102.4(NPHP4): c.2360T> A (p.Val787Glu) single nucleotide variant Uncertain significance rs587783026 GRCh38 Chromosome 1, 5887411: 5887411
34 NPHP4 NM_015102.4(NPHP4): c.2360T> A (p.Val787Glu) single nucleotide variant Uncertain significance rs587783026 GRCh37 Chromosome 1, 5947471: 5947471
35 NPHP4 NM_015102.4(NPHP4): c.2198G> A (p.Gly733Asp) single nucleotide variant Uncertain significance rs587783027 GRCh37 Chromosome 1, 5951034: 5951034
36 NPHP4 NM_015102.4(NPHP4): c.2198G> A (p.Gly733Asp) single nucleotide variant Uncertain significance rs587783027 GRCh38 Chromosome 1, 5890974: 5890974
37 CEP290 NM_025114.3(CEP290): c.4250A> G (p.Gln1417Arg) single nucleotide variant Uncertain significance rs201504946 GRCh37 Chromosome 12, 88480220: 88480220
38 CEP290 NM_025114.3(CEP290): c.4250A> G (p.Gln1417Arg) single nucleotide variant Uncertain significance rs201504946 GRCh38 Chromosome 12, 88086443: 88086443
39 LCA5 NM_181714.3(LCA5): c.71T> C (p.Leu24Ser) single nucleotide variant Benign rs2655655 GRCh37 Chromosome 6, 80228541: 80228541
40 LCA5 NM_181714.3(LCA5): c.71T> C (p.Leu24Ser) single nucleotide variant Benign rs2655655 GRCh38 Chromosome 6, 79518824: 79518824
41 LCA5 NM_181714.3(LCA5): c.77A> C (p.Asp26Ala) single nucleotide variant Benign/Likely benign rs34068461 GRCh37 Chromosome 6, 80228535: 80228535
42 LCA5 NM_181714.3(LCA5): c.77A> C (p.Asp26Ala) single nucleotide variant Benign/Likely benign rs34068461 GRCh38 Chromosome 6, 79518818: 79518818
43 LCA5 NM_181714.3(LCA5): c.1967G> A (p.Gly656Asp) single nucleotide variant Benign/Likely benign rs1875845 GRCh37 Chromosome 6, 80196848: 80196848
44 LCA5 NM_181714.3(LCA5): c.1967G> A (p.Gly656Asp) single nucleotide variant Benign/Likely benign rs1875845 GRCh38 Chromosome 6, 79487131: 79487131
45 AIPL1 NM_014336.4(AIPL1): c.300A> G (p.Leu100=) single nucleotide variant Benign/Likely benign rs8075035 GRCh37 Chromosome 17, 6331803: 6331803
46 AIPL1 NM_014336.4(AIPL1): c.300A> G (p.Leu100=) single nucleotide variant Benign/Likely benign rs8075035 GRCh38 Chromosome 17, 6428483: 6428483
47 CEP290 NM_025114.3(CEP290): c.6522+12dupT duplication Benign rs11405846 GRCh37 Chromosome 12, 88454595: 88454595
48 CEP290 NM_025114.3(CEP290): c.6522+12dupT duplication Benign rs11405846 GRCh38 Chromosome 12, 88060818: 88060818
49 CEP290 NM_025114.3(CEP290): c.5055G> A (p.Ala1685=) single nucleotide variant Uncertain significance rs73192874 GRCh37 Chromosome 12, 88474130: 88474130
50 CEP290 NM_025114.3(CEP290): c.5055G> A (p.Ala1685=) single nucleotide variant Uncertain significance rs73192874 GRCh38 Chromosome 12, 88080353: 88080353

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:

37
# 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 9.85 CEP290 CLUAP1 LCA5 RPGRIP1 SPATA7 TULP1
2 cilium GO:0005929 9.65 CEP290 CLUAP1 LCA5 RPGRIP1 TULP1
3 photoreceptor inner segment GO:0001917 9.5 AIPL1 CRB1 TULP1
4 photoreceptor disc membrane GO:0097381 9.33 ABCA4 GUCY2D PDE6A
5 photoreceptor outer segment GO:0001750 9.26 ABCA4 CNGB3 IQCB1 TULP1
6 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 13)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.73 ABCA4 AIPL1 CNGB3 CRX GUCY2D LRAT
2 retina development in camera-type eye GO:0060041 9.65 RPE65 RPGRIP1 TULP1
3 retinoid metabolic process GO:0001523 9.62 ABCA4 LRAT RDH12 RPE65
4 retina homeostasis GO:0001895 9.58 AIPL1 RPE65 TULP1
5 eye photoreceptor cell development GO:0042462 9.56 CEP290 CRB1 RPGRIP1 TULP1
6 photoreceptor cell maintenance GO:0045494 9.55 ABCA4 IQCB1 RDH12 SPATA7 TULP1
7 retinol metabolic process GO:0042572 9.54 LRAT RDH12 RPE65
8 regulation of rhodopsin mediated signaling pathway GO:0022400 9.52 GUCY2D PDE6A
9 detection of light stimulus involved in visual perception GO:0050908 9.51 RPE65 TULP1
10 phototransduction, visible light GO:0007603 9.49 ABCA4 AIPL1
11 protein localization to photoreceptor outer segment GO:1903546 9.46 SPATA7 TULP1
12 vitamin A metabolic process GO:0006776 9.43 LRAT RPE65
13 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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