LCA2
MCID: LBR012
MIFTS: 53

Leber Congenital Amaurosis 2 (LCA2)

Categories: Eye diseases, Genetic diseases, Neuronal diseases
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Aliases & Classifications for Leber Congenital Amaurosis 2

MalaCards integrated aliases for Leber Congenital Amaurosis 2:

Name: Leber Congenital Amaurosis 2 57 11 73 28 12 5 14
Lca2 57 11 73
Amaurosis Congenita of Leber Ii 57 11
Amaurosis Congenita of Leber, Type 2 75
Leber Congenital Amaurosis, Type Ii 71
Leber Congenital Amaurosis Type Ii 73
Leber Congenital Amaurosis, Type 2 38

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in infancy
progressive disorder
founder mutation discovered in an isolated dutch population


Classifications:



External Ids:

Disease Ontology 11 DOID:0110016
OMIM® 57 204100
OMIM Phenotypic Series 57 PS204000
MeSH 43 D057130
ICD10 31 H35.5
MedGen 40 C1859844
UMLS 71 C1859844

Summaries for Leber Congenital Amaurosis 2

OMIM®: 57 Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by Chung and Traboulsi, 2009). For a general description and a discussion of genetic heterogeneity of LCA, see 204000. (204100) (Updated 08-Dec-2022)

MalaCards based summary: Leber Congenital Amaurosis 2, also known as lca2, is related to retinal disease and leber plus disease. An important gene associated with Leber Congenital Amaurosis 2 is RPE65 (Retinoid Isomerohydrolase RPE65), and among its related pathways/superpathways are Visual phototransduction and Ciliary landscape. Affiliated tissues include retina, eye and bone marrow, and related phenotypes are intellectual disability and nystagmus

UniProtKB/Swiss-Prot: 73 A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.

Disease Ontology: 11 A Leber congenital amaurosis that is characterized by night blindness, some transient improvement in vision, and eventual progressive visual loss and has material basis in mutation in the RPE65 gene on chromosome 1.

Wikipedia: 75 Leber congenital amaurosis (LCA) is a rare inherited eye disease that appears at birth or in the first... more...

Related Diseases for Leber Congenital Amaurosis 2

Diseases in the Leber Congenital Amaurosis 4 family:

Leber Congenital Amaurosis 1 Leber Congenital Amaurosis 2
Leber Congenital Amaurosis 3 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
Leber Congenital Amaurosis 19

Diseases related to Leber Congenital Amaurosis 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 125)
# Related Disease Score Top Affiliating Genes
1 retinal disease 29.0 RPGR RPE65 RHO GUCY2D CRX CRB1
2 leber plus disease 26.4 TULP1 SPATA7 RPGR RPE65 RHO RDH12
3 fundus dystrophy 26.1 TULP1 SPATA7 RPGR RPE65 RHO RDH12
4 cold-induced sweating syndrome 3 10.3 RPE65 GUCY2D
5 cone-rod dystrophy 17 10.3 GUCY2D AIPL1
6 simpson-golabi-behmel syndrome, type 2 10.2 LCA5 CEP290
7 solar retinopathy 10.2 RHO RDH12
8 intellectual developmental disorder, autosomal dominant 3 10.2 RD3 GUCY2D
9 retinal perforation 10.2 RPE65 RHO
10 keratomalacia 10.2 RHO LRAT
11 pathologic nystagmus 10.2
12 leber congenital amaurosis / early-onset severe retinal dystrophy 10.2
13 nonsyndromic retinitis pigmentosa 10.2
14 rpe65-related leber congenital amaurosis / early-onset severe retinal dystrophy 10.2
15 oto-palatal-digital syndrome 10.2
16 night blindness, congenital stationary, autosomal dominant 1 10.1 SPATA7 RHO
17 cone-rod dystrophy 6 10.1 RD3 GUCY2D
18 retinitis pigmentosa 7 10.1 RPE65 RHO
19 gapo syndrome 10.1 CRB1 AIPL1
20 retinal vascular disease 10.1 RPE65 RHO AIPL1
21 retinitis pigmentosa 35 10.1 RPGR RDH12
22 retinitis pigmentosa 50 10.1 RPE65 MERTK
23 pseudoretinitis pigmentosa 10.1 TULP1 CRB1
24 retinitis pigmentosa 84 10.1 RPGR RDH12
25 retinitis pigmentosa 54 10.1 RPGR LCA5
26 pigmented paravenous chorioretinal atrophy 10.1 GUCY2D CRB1 AIPL1
27 retinal cone dystrophy 1 10.1 GUCY2D CRX
28 retinitis pigmentosa 1 10.1 RHO CRX
29 macular retinal edema 10.0 RPE65 RHO CRB1
30 enophthalmos 10.0 GUCY2D CRB1 CEP290
31 lens disease 10.0 RPE65 RHO CRB1
32 cone-rod dystrophy 13 10.0 SPATA7 RPGR
33 joubert syndrome 7 10.0 RPGR AIPL1
34 chorioretinal scar 10.0 RHO RDH12 CRB1
35 nephronophthisis 19 10.0 RPGR CEP290
36 vitreous syneresis 10.0 RPGR CRB1
37 retinitis pigmentosa 39 10.0 RPGR RPE65 CEP290
38 bietti crystalline corneoretinal dystrophy 10.0 RPGR RPE65
39 vitreous disease 10.0 RPE65 RHO
40 retinitis pigmentosa 2 10.0 RPGR RHO CEP290
41 cone-rod dystrophy 16 10.0 RPGR LCA5
42 inherited retinal disorder 10.0
43 retinitis pigmentosa 20 10.0 RPE65 CNGB3
44 cone-rod dystrophy 9 9.9 GUCY2D CNGB3
45 retinitis pigmentosa 12 9.9 RPGR CRB1 AIPL1
46 optic disk drusen 9.9 RPGR RHO CRB1
47 colorblindness, partial, protan series 9.9 RHO CNGB3
48 exudative vitreoretinopathy 9.9 RPGR CRB1 CEP290
49 microphthalmia, syndromic 9 9.9 RDH12 LRAT
50 cone-rod dystrophy 1 9.8 RPGR CNGB3

Graphical network of the top 20 diseases related to Leber Congenital Amaurosis 2:



Diseases related to Leber Congenital Amaurosis 2

Symptoms & Phenotypes for Leber Congenital Amaurosis 2

Human phenotypes related to Leber Congenital Amaurosis 2:

30 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 30 Very rare (1%) HP:0001249
2 nystagmus 30 Very rare (1%) HP:0000639
3 reduced visual acuity 30 Very rare (1%) HP:0007663
4 nyctalopia 30 Very rare (1%) HP:0000662
5 optic disc pallor 30 Very rare (1%) HP:0000543
6 fundus atrophy 30 Very rare (1%) HP:0001099
7 attenuation of retinal blood vessels 30 Very rare (1%) HP:0007843
8 undetectable light- and dark-adapted electroretinogram 30 Very rare (1%) HP:0007688
9 absent foveal reflex 30 Very rare (1%) HP:0030825
10 blindness 30 HP:0000618
11 cerebellar vermis hypoplasia 30 HP:0001320
12 pigmentary retinopathy 30 HP:0000580
13 eye poking 30 HP:0001483

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Eyes:
nystagmus
blindness
strabismus
myopia
hypermetropia
more
Neurologic Central Nervous System:
psychomotor retardation (in some patients)

Head And Neck Neck:
torticollis (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
autistic-like contact disorder (in some patients)

Clinical features from OMIM®:

204100 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Leber Congenital Amaurosis 2 according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.04 AIPL1 CEP290 CNGB3 CRB1 CRX GUCY2D
2 no effect GR00402-S-2 10.04 AIPL1 CEP290 CNGB3 CRB1 CRX LRAT

MGI Mouse Phenotypes related to Leber Congenital Amaurosis 2:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.86 AIPL1 CEP290 CNGB3 CRB1 CRX GUCY2D
2 pigmentation MP:0001186 9.81 CEP290 CRB1 CRX LCA5 MERTK RHO
3 vision/eye MP:0005391 9.53 AIPL1 CEP290 CNGB3 CRB1 CRX GUCY2D

Drugs & Therapeutics for Leber Congenital Amaurosis 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Multiple-Site, Phase 1/2, Safety and Efficacy Trial of a Recombinant Adeno-associated Virus Vector Expressing RPE65 (rAAV2-CB-hRPE65) in Patients With Leber Congenital Amaurosis Type 2 Completed NCT00749957 Phase 1, Phase 2
2 Natural History of Patients With Inherited Retinal Diseases Due to Mutations in RPE65 Gene Unknown status NCT04525261
3 Long-term Follow-up Study of Participants Following an Open Label, Multi-centre, Phase I/II Dose Escalation Trial of an Adeno-associated Virus Vector (AAV2/5-OPTIRPE65) for Gene Therapy of Adults and Children With Retinal Dystrophy Owing to Defects in RPE65 (LCA2) Active, not recruiting NCT02946879

Search NIH Clinical Center for Leber Congenital Amaurosis 2

Genetic Tests for Leber Congenital Amaurosis 2

Genetic tests related to Leber Congenital Amaurosis 2:

# Genetic test Affiliating Genes
1 Leber Congenital Amaurosis 2 28 RPE65

Anatomical Context for Leber Congenital Amaurosis 2

Organs/tissues related to Leber Congenital Amaurosis 2:

MalaCards : Retina, Eye, Bone Marrow, Pancreatic Islet, Lung, Bone, Cortex

Publications for Leber Congenital Amaurosis 2

Articles related to Leber Congenital Amaurosis 2:

(show top 50) (show all 144)
# Title Authors PMID Year
1
Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial. 57 5
19854499 2009
2
Thirty-year follow-up of a patient with leber congenital amaurosis and novel RPE65 mutations. 57 5
14962443 2004
3
A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population. 57 5
12960219 2003
4
Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis. 57 5
9501220 1998
5
Mutations in RPE65 cause Leber's congenital amaurosis. 57 5
9326927 1997
6
Amaurosis congenita (Leber). 57 5
13616783 1959
7
Nature of the visual loss in observers with Leber's congenital amaurosis caused by specific mutations in RPE65. 62 5
25257057 2014
8
Safety and efficacy of gene transfer for Leber's congenital amaurosis. 62 57
18441370 2008
9
RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study. 5
35129589 2022
10
Frequency and phenotypic characteristics of RPE65 mutations in the Chinese population. 5
33952291 2021
11
Novel gene variants in Polish patients with Leber congenital amaurosis (LCA). 5
33308271 2020
12
Compound heterozygous RPE65 mutations associated with an early onset autosomal recessive retinitis pigmentosa. 5
32367544 2020
13
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy. 5
31630094 2020
14
Retinal Structure in RPE65-Associated Retinal Dystrophy. 5
32347917 2020
15
RPE65 mutation frequency and phenotypic variation according to exome sequencing in a tertiary centre for genetic eye diseases in China. 5
31273949 2020
16
Application of targeted panel sequencing and whole exome sequencing for 76 Chinese families with retinitis pigmentosa. 5
31960602 2020
17
Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next-generation sequencing. 5
31736247 2020
18
Pathogenicity Reclasssification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy. 5
31878136 2019
19
RPE65-Mutation Associated Fundus Albipunctatus with Cone Dystrophy. 5
31174678 2019
20
Aberrant RNA splicing is the major pathogenic effect in a knock-in mouse model of the dominantly inherited c.1430A>G human RPE65 mutation. 5
30628748 2019
21
A high prevalence of biallelic RPE65 mutations in Costa Rican children with Leber congenital amaurosis and early-onset retinal dystrophy. 5
30870047 2019
22
The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene. 5
30268864 2019
23
Seven novel variants expand the spectrum of RPE65-related Leber congenital amaurosis in the Chinese population. 5
30996589 2019
24
Two-year progression analysis of RPE65 autosomal dominant retinitis pigmentosa. 5
29947567 2018
25
Development of a molecular diagnostic test for Retinitis Pigmentosa in the Japanese population. 5
29785639 2018
26
Insights into the pathogenesis of dominant retinitis pigmentosa associated with a D477G mutation in RPE65. 5
29659842 2018
27
Early onset flecked retinal dystrophy associated with new compound heterozygous RPE65 variants. 5
29681726 2018
28
Severe Loss of Tritan Color Discrimination in RPE65 Associated Leber Congenital Amaurosis. 5
29332120 2018
29
Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy. 5
29186038 2017
30
Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance. 5
28714225 2017
31
Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies. 5
28838317 2017
32
Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association. 5
28130426 2017
33
Genetic and phenotypic characteristics of four Chinese families with fundus albipunctatus. 5
28393863 2017
34
A Dominant Mutation in Rpe65, D477G, Delays Dark Adaptation and Disturbs the Visual Cycle in the Mutant Knock-In Mice. 5
28041994 2017
35
Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies. 5
28181551 2017
36
Preserved visual function in retinal dystrophy due to hypomorphic RPE65 mutations. 5
26906952 2016
37
The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity. 5
27628848 2016
38
Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark. 5
26626312 2016
39
The clinical features of retinal disease due to a dominant mutation in RPE65. 5
27307694 2016
40
Functional Rescue of Retinal Degeneration-Associated Mutant RPE65 Proteins. 5
26427455 2016
41
Using patient-specific induced pluripotent stem cells to interrogate the pathogenicity of a novel retinal pigment epithelium-specific 65 kDa cryptic splice site mutation and confirm eligibility for enrollment into a clinical gene augmentation trial. 5
26364624 2015
42
NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa. 5
26667666 2015
43
Temperature-sensitive retinoid isomerase activity of RPE65 mutants associated with Leber Congenital Amaurosis. 5
25752820 2015
44
Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort. 5
26047050 2015
45
Autofluorescence imaging with near-infrared excitation:normalization by reflectance to reduce signal from choroidal fluorophores. 5
26024124 2015
46
Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing. 5
25356976 2015
47
Safety and Proof-of-Concept Study of Oral QLT091001 in Retinitis Pigmentosa Due to Inherited Deficiencies of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT). 5
26656277 2015
48
Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families. 5
26147992 2015
49
Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay. 5
24997176 2014
50
Rescue of enzymatic function for disease-associated RPE65 proteins containing various missense mutations in non-active sites. 5
24849605 2014

Variations for Leber Congenital Amaurosis 2

ClinVar genetic disease variations for Leber Congenital Amaurosis 2:

5 (show top 50) (show all 521)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RPE65 NM_000329.3(RPE65):c.1067del (p.Asn356fs) DEL Pathogenic
Pathogenic
98821 rs281865520 GRCh37: 1:68903931-68903931
GRCh38: 1:68438248-68438248
2 RPE65 NM_000329.3(RPE65):c.700C>T (p.Arg234Ter) SNV Pathogenic
Pathogenic
13114 rs61752895 GRCh37: 1:68905269-68905269
GRCh38: 1:68439586-68439586
3 RPE65 NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp) SNV Pathogenic
Pathogenic
13120 rs121917745 GRCh37: 1:68895518-68895518
GRCh38: 1:68429835-68429835
4 RPE65 NM_000329.3(RPE65):c.1102T>C (p.Tyr368His) SNV Pathogenic
Pathogenic
29870 rs62653011 GRCh37: 1:68903896-68903896
GRCh38: 1:68438213-68438213
5 RPE65 NM_000329.3(RPE65):c.11+5G>A SNV Pathogenic
Pathogenic
98825 rs61751276 GRCh37: 1:68915573-68915573
GRCh38: 1:68449890-68449890
6 RPE65 NM_000329.3(RPE65):c.907A>T (p.Lys303Ter) SNV Pathogenic
29872 rs61752904 GRCh37: 1:68904716-68904716
GRCh38: 1:68439033-68439033
7 RPE65 NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys) SNV Pathogenic
Pathogenic
29873 rs62636300 GRCh37: 1:68897011-68897011
GRCh38: 1:68431328-68431328
8 RPE65 NM_000329.3(RPE65):c.130C>T (p.Arg44Ter) SNV Pathogenic
374497 rs368088025 GRCh37: 1:68912508-68912508
GRCh38: 1:68446825-68446825
9 RPE65 NM_000329.3(RPE65):c.370C>T (p.Arg124Ter) SNV Pathogenic
Pathogenic
98866 rs61752877 GRCh37: 1:68910339-68910339
GRCh38: 1:68444656-68444656
10 RPE65 NM_000329.3(RPE65):c.419G>A (p.Gly140Glu) SNV Pathogenic
467827 rs1191496583 GRCh37: 1:68910290-68910290
GRCh38: 1:68444607-68444607
11 RPE65 NM_000329.3(RPE65):c.95-2A>T SNV Pathogenic
Pathogenic
98899 rs61751279 GRCh37: 1:68912545-68912545
GRCh38: 1:68446862-68446862
12 RPE65 NM_000329.3(RPE65):c.715T>G (p.Tyr239Asp) SNV Pathogenic
Pathogenic
98889 rs61752896 GRCh37: 1:68905254-68905254
GRCh38: 1:68439571-68439571
13 RPE65 NM_000329.3(RPE65):c.10del (p.Gln4fs) DEL Pathogenic
569113 rs747393487 GRCh37: 1:68915579-68915579
GRCh38: 1:68449896-68449896
14 RPE65 NM_000329.3(RPE65):c.131G>A (p.Arg44Gln) SNV Pathogenic
Likely Pathogenic
98840 rs61751282 GRCh37: 1:68912507-68912507
GRCh38: 1:68446824-68446824
15 RPE65 NM_000329.3(RPE65):c.1067dup (p.Asn356fs) DUP Pathogenic
Pathogenic
596673 rs281865520 GRCh37: 1:68903930-68903931
GRCh38: 1:68438247-68438248
16 RPE65 NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs) DEL Pathogenic
Pathogenic
98860 rs62642583 GRCh37: 1:68910501-68910520
GRCh38: 1:68444818-68444837
17 RPE65 NM_000329.3(RPE65):c.1087C>A (p.Pro363Thr) SNV Pathogenic
Pathogenic
13117 rs121917744 GRCh37: 1:68903911-68903911
GRCh38: 1:68438228-68438228
18 RPE65 NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter) SNV Pathogenic
Likely Pathogenic
660359 rs774130993 GRCh37: 1:68897192-68897192
GRCh38: 1:68431509-68431509
19 RPE65 NM_000329.3(RPE65):c.304G>T (p.Glu102Ter) SNV Pathogenic
98863 rs62642584 GRCh37: 1:68910508-68910508
GRCh38: 1:68444825-68444825
20 RPE65 NM_000329.3(RPE65):c.1583G>T (p.Gly528Val) SNV Pathogenic
801494 rs1193631220 GRCh37: 1:68895478-68895478
GRCh38: 1:68429795-68429795
21 overlap with 2 genes NC_000001.11:g.(?_68438187)_(68484090_?)del DEL Pathogenic
830561 GRCh37: 1:68903870-68949773
GRCh38:
22 RPE65 NM_000329.3(RPE65):c.507C>A (p.Cys169Ter) SNV Pathogenic
838191 rs1645898563 GRCh37: 1:68906672-68906672
GRCh38: 1:68440989-68440989
23 RPE65 NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser) SNV Pathogenic
Pathogenic
13118 rs61752909 GRCh37: 1:68903976-68903976
GRCh38: 1:68438293-68438293
24 RPE65 NM_000329.3(RPE65):c.118G>A (p.Gly40Ser) SNV Pathogenic
Pathogenic
98830 rs61751281 GRCh37: 1:68912520-68912520
GRCh38: 1:68446837-68446837
25 RPE65 NM_000329.3(RPE65):c.147_148insCAAA (p.Phe50fs) INSERT Pathogenic
848072 rs1645945978 GRCh37: 1:68912490-68912491
GRCh38: 1:68446807-68446808
26 RPE65 NM_000329.3(RPE65):c.242G>T (p.Arg81Ile) SNV Pathogenic
Conflicting Interpretations Of Pathogenicity
559523 rs1429137932 GRCh37: 1:68912396-68912396
GRCh38: 1:68446713-68446713
27 RPE65 NM_000329.3(RPE65):c.272G>A (p.Arg91Gln) SNV Pathogenic
Pathogenic
98857 rs61752873 GRCh37: 1:68910540-68910540
GRCh38: 1:68444857-68444857
28 RPE65 NM_000329.3(RPE65):c.1338+1G>A SNV Pathogenic
374139 rs1057518922 GRCh37: 1:68896964-68896964
GRCh38: 1:68431281-68431281
29 RPE65 NM_000329.3(RPE65):c.1430A>G (p.Asp477Gly) SNV Pathogenic
750796 rs1571158279 GRCh37: 1:68896768-68896768
GRCh38: 1:68431085-68431085
30 RPE65 NM_000329.3(RPE65):c.1380G>A (p.Trp460Ter) SNV Pathogenic
Likely Pathogenic
870343 rs1645823028 GRCh37: 1:68896818-68896818
GRCh38: 1:68431135-68431135
31 RPE65 NM_000329.3(RPE65):c.746A>G (p.Tyr249Cys) SNV Pathogenic
937681 rs373652862 GRCh37: 1:68904986-68904986
GRCh38: 1:68439303-68439303
32 RPE65 NM_000329.3(RPE65):c.65T>C (p.Leu22Pro) SNV Pathogenic
Likely Pathogenic
98888 rs61751277 GRCh37: 1:68914336-68914336
GRCh38: 1:68448653-68448653
33 RPE65 NM_000329.3(RPE65):c.560G>A (p.Gly187Glu) SNV Pathogenic
Likely Pathogenic
801497 rs752058510 GRCh37: 1:68906619-68906619
GRCh38: 1:68440936-68440936
34 RPE65 NM_000329.3(RPE65):c.726-2A>T SNV Pathogenic
Pathogenic
952461 rs878853372 GRCh37: 1:68905008-68905008
GRCh38: 1:68439325-68439325
35 RPE65 NM_000329.3(RPE65):c.893del (p.Lys298fs) DEL Pathogenic
372493 rs61752902 GRCh37: 1:68904730-68904730
GRCh38: 1:68439047-68439047
36 RPE65 NM_000329.3(RPE65):c.829_833del (p.Asp277fs) DEL Pathogenic
955219 rs1645882447 GRCh37: 1:68904899-68904903
GRCh38: 1:68439216-68439220
37 RPE65 NM_000329.3(RPE65):c.962dup (p.Asn321fs) DUP Pathogenic
98902 rs61752906 GRCh37: 1:68904660-68904661
GRCh38: 1:68438977-68438978
38 RPE65 NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr) SNV Pathogenic
Likely Pathogenic
98873 rs61752883 GRCh37: 1:68906680-68906680
GRCh38: 1:68440997-68440997
39 RPE65 NM_000329.3(RPE65):c.421G>T (p.Glu141Ter) SNV Pathogenic
970047 rs1469460289 GRCh37: 1:68910288-68910288
GRCh38: 1:68444605-68444605
40 RPE65 NM_000329.3(RPE65):c.1338G>T (p.Arg446Ser) SNV Pathogenic
427864 rs1420672586 GRCh37: 1:68896965-68896965
GRCh38: 1:68431282-68431282
41 RPE65 NM_000329.3(RPE65):c.706A>T (p.Lys236Ter) SNV Pathogenic
Pathogenic
973963 rs1645885900 GRCh37: 1:68905263-68905263
GRCh38: 1:68439580-68439580
42 RPE65 NM_000329.3(RPE65):c.615_616del (p.Ile206fs) DEL Pathogenic
Pathogenic
98880 rs61752888 GRCh37: 1:68906563-68906564
GRCh38: 1:68440880-68440881
43 RPE65 NM_000329.3(RPE65):c.1209_1210insCTGG (p.Glu404fs) INSERT Pathogenic
973964 rs1645826120 GRCh37: 1:68897187-68897188
GRCh38: 1:68431504-68431505
44 RPE65 NM_000329.3(RPE65):c.858+1G>A SNV Pathogenic
Pathogenic
98892 rs61752899 GRCh37: 1:68904873-68904873
GRCh38: 1:68439190-68439190
45 RPE65 NM_000329.3(RPE65):c.440_441del (p.Thr147fs) MICROSAT Pathogenic
Pathogenic
973965 rs1201299067 GRCh37: 1:68910268-68910269
GRCh38: 1:68444585-68444586
46 RPE65 NM_000329.3(RPE65):c.1596dup (p.Ser533fs) DUP Pathogenic
973968 rs1645806893 GRCh37: 1:68895464-68895465
GRCh38: 1:68429781-68429782
47 RPE65 NM_000329.2:c.1_1602del DEL Pathogenic
973969 GRCh37:
GRCh38:
48 RPE65 NM_000329.3(RPE65):c.200T>G (p.Leu67Arg) SNV Pathogenic
1068757 GRCh37: 1:68912438-68912438
GRCh38: 1:68446755-68446755
49 RPE65 NM_000329.3(RPE65):c.94G>T (p.Gly32Cys) SNV Pathogenic
1068758 GRCh37: 1:68914307-68914307
GRCh38: 1:68448624-68448624
50 RPE65 NM_000329.3(RPE65):c.943_950del (p.Ile315fs) DEL Pathogenic
1069087 GRCh37: 1:68904673-68904680
GRCh38: 1:68438990-68438997

UniProtKB/Swiss-Prot genetic disease variations for Leber Congenital Amaurosis 2:

73 (show all 29)
# Symbol AA change Variation ID SNP ID
1 RPE65 p.Leu22Pro VAR_017126 rs61751277
2 RPE65 p.Gly40Ser VAR_017127 rs61751281
3 RPE65 p.Arg44Gln VAR_017128 rs61751282
4 RPE65 p.His68Tyr VAR_017129 rs61752866
5 RPE65 p.Arg91Trp VAR_017130 rs61752871
6 RPE65 p.Arg91Gln VAR_017131 rs61752873
7 RPE65 p.Tyr144Asp VAR_017133 rs61752880
8 RPE65 p.His182Tyr VAR_017134 rs61752884
9 RPE65 p.Val287Phe VAR_017135 rs281865289
10 RPE65 p.Pro363Thr VAR_017138 rs121917744
11 RPE65 p.Ala393Gly VAR_017140 rs62635773
12 RPE65 p.Glu417Gln VAR_017141 rs62636299
13 RPE65 p.Tyr431Cys VAR_018151 rs62636300
14 RPE65 p.Glu102Lys VAR_060812 rs62642584
15 RPE65 p.Glu148Asp VAR_060813 rs61752882
16 RPE65 p.Asp167Tyr VAR_060814 rs61752883
17 RPE65 p.His182Asn VAR_060815 rs61752884
18 RPE65 p.Tyr239Asp VAR_060816 rs61752896
19 RPE65 p.Cys330Tyr VAR_060818 rs61752908
20 RPE65 p.Ala393Glu VAR_060819
21 RPE65 p.Tyr435Cys VAR_060820 rs62636302
22 RPE65 p.Pro470Leu VAR_060822 rs774211361
23 RPE65 p.Phe70Val VAR_067160
24 RPE65 p.Arg91Pro VAR_067161 rs61752873
25 RPE65 p.His313Arg VAR_067163 rs1375943362
26 RPE65 p.Gly40Asp VAR_081684
27 RPE65 p.Thr101Ile VAR_083292 rs1444234037
28 RPE65 p.Tyr318Asn VAR_083295 rs61752905
29 RPE65 p.Leu408Pro VAR_083297 rs62636298

Expression for Leber Congenital Amaurosis 2

Search GEO for disease gene expression data for Leber Congenital Amaurosis 2.

Pathways for Leber Congenital Amaurosis 2

Pathways related to Leber Congenital Amaurosis 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.34 RPE65 RHO RDH12 LRAT GUCY2D
2 12.08 SPATA7 RPGR LCA5 CEP290
3
Show member pathways
11.79 LCA5 CRX CEP290
4 11.6 TULP1 SPATA7 LCA5 CRX CEP290
5
Show member pathways
11.46 LRAT RDH12 RHO RPE65
6 11.41 RPE65 RHO RDH12 LRAT GUCY2D CNGB3
7 11.23 RPE65 RDH12 LRAT
8
Show member pathways
11.21 RPE65 RHO RDH12 LRAT
9 10.8 RPE65 RDH12 LRAT
10 10.38 RPE65 RDH12 LRAT GUCY2D CNGB3

GO Terms for Leber Congenital Amaurosis 2

Cellular components related to Leber Congenital Amaurosis 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ciliary basal body GO:0036064 10.01 SPATA7 RPGR LCA5 CEP290
2 photoreceptor connecting cilium GO:0032391 9.85 SPATA7 LCA5 CEP290
3 cell projection GO:0042995 9.85 CEP290 CRB1 GUCY2D LCA5 RD3 RHO
4 photoreceptor outer segment membrane GO:0042622 9.73 RHO GUCY2D
5 rod photoreceptor outer segment GO:0120200 9.73 SPATA7 RHO RD3
6 photoreceptor inner segment GO:0001917 9.73 TULP1 RHO RDH12 RD3 CRB1 AIPL1
7 photoreceptor inner segment membrane GO:0060342 9.62 RHO RDH12
8 photoreceptor outer segment GO:0001750 9.55 TULP1 SPATA7 RPGR RHO RD3 MERTK

Biological processes related to Leber Congenital Amaurosis 2 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 retinol metabolic process GO:0042572 9.97 RPE65 RDH12 LRAT
2 retina development in camera-type eye GO:0060041 9.96 CRB1 MERTK RD3 RHO RPE65 TULP1
3 photoreceptor cell maintenance GO:0045494 9.93 TULP1 SPATA7 RHO RDH12 LCA5 CRB1
4 retina homeostasis GO:0001895 9.91 AIPL1 RPE65 TULP1
5 retinoid metabolic process GO:0001523 9.88 RPE65 RDH12 LRAT
6 response to stimulus GO:0050896 9.86 AIPL1 CNGB3 CRX GUCY2D LRAT RD3
7 cellular response to light stimulus GO:0071482 9.85 RHO CRB1
8 detection of light stimulus involved in visual perception GO:0050908 9.85 TULP1 RPE65 CRB1
9 regulation of rhodopsin mediated signaling pathway GO:0022400 9.83 GUCY2D AIPL1
10 phototransduction, visible light GO:0007603 9.81 RHO AIPL1
11 eye photoreceptor cell development GO:0042462 9.8 TULP1 CRB1 CEP290
12 protein localization to photoreceptor outer segment GO:1903546 9.78 TULP1 SPATA7
13 vitamin A metabolic process GO:0006776 9.76 RPE65 LRAT
14 visual perception GO:0007601 9.72 TULP1 SPATA7 RPGR RPE65 RHO RDH12
15 retina morphogenesis in camera-type eye GO:0060042 9.71 RPE65 CRB1

Sources for Leber Congenital Amaurosis 2

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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