LCA2
MCID: LBR012
MIFTS: 52

Leber Congenital Amaurosis 2 (LCA2)

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

Aliases & Classifications for Leber Congenital Amaurosis 2

MalaCards integrated aliases for Leber Congenital Amaurosis 2:

Name: Leber Congenital Amaurosis 2 57 12 20 72 29 13 6 15
Lca2 57 12 20 72
Amaurosis Congenita of Leber, Type 2 73 20
Amaurosis Congenita of Leber Ii 57 12
Leber Congenital Amaurosis, Type Ii 70
Leber Congenital Amaurosis Type Ii 72
Leber Congenital Amaurosis, Type 2 39
Leber Congenital Amaurosis Type 2 20

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
progressive disorder
founder mutation discovered in an isolated dutch population


HPO:

31
leber congenital amaurosis 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110016
OMIM® 57 204100
OMIM Phenotypic Series 57 PS204000
MeSH 44 D057130
ICD10 32 H35.5
MedGen 41 C1859844
UMLS 70 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 20-May-2021)

MalaCards based summary : Leber Congenital Amaurosis 2, also known as lca2, is related to leber congenital amaurosis / early-onset severe retinal dystrophy and pathologic nystagmus. An important gene associated with Leber Congenital Amaurosis 2 is RPE65 (Retinoid Isomerohydrolase RPE65), and among its related pathways/superpathways are Drug metabolism - cytochrome P450 and Metabolism of fat-soluble vitamins. Affiliated tissues include eye, retina and bone marrow, and related phenotypes are intellectual disability and cataract

Disease Ontology : 12 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.

UniProtKB/Swiss-Prot : 72 Leber congenital amaurosis 2: 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.

Wikipedia : 73 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 123)
# Related Disease Score Top Affiliating Genes
1 leber congenital amaurosis / early-onset severe retinal dystrophy 30.7 RPE65 CEP290 AIPL1
2 pathologic nystagmus 26.7 TULP1 SPATA7 RPGRIP1 RPGR RPE65 RHO
3 leber plus disease 25.9 TULP1 SPATA7 RPGRIP1 RPGR RPE65 RHO
4 fundus dystrophy 25.7 TULP1 SPATA7 RPGRIP1 RPGR RPE65 RHO
5 cone-rod dystrophy 17 10.4 GUCY2D AIPL1
6 cone-rod dystrophy 12 10.3 GUCY2D AIPL1
7 simpson-golabi-behmel syndrome, type 2 10.3 LCA5 CEP290
8 retinal perforation 10.3 RPE65 CRYAA
9 retinitis pigmentosa 29 10.3 LCA5 CRYAA
10 exotropia 10.3 RPE65 CRYAA AIPL1
11 joubert syndrome 9 10.3 RPE65 CEP290
12 keratomalacia 10.3 RHO LRAT
13 enophthalmos 10.2 GUCY2D CRYAA CEP290
14 vitreous disease 10.2 RPE65 RHO CRYAA
15 intraocular retinoblastoma 10.2 CRYAA CRX
16 uveal disease 10.2 RPE65 RHO CRYAA
17 lens disease 10.2 RPE65 RHO CRYAA
18 xerophthalmia 10.2 RHO LRAT
19 peripheral retinal degeneration 10.2 RHO CRB1
20 cancer-associated retinopathy 10.2 TULP1 RHO
21 retinal vascular disease 10.2 RHO CRYAA AIPL1
22 pattern dystrophy 10.2 RHO CRX
23 blood group, globoside system 10.2 RPE65 CRYAA
24 retinitis pigmentosa 63 10.2 SPATA7 CRX
25 solar retinopathy 10.2 RHO RDH12 CRB1
26 chorioretinal scar 10.2 RHO RDH12 CRB1
27 nonsyndromic retinitis pigmentosa 10.2
28 rpe65-related leber congenital amaurosis / early-onset severe retinal dystrophy 10.2
29 partial central choroid dystrophy 10.2 GUCY2D CRX AIPL1
30 macular retinal edema 10.2 RHO CRYAA CRB1
31 hereditary choroidal atrophy 10.2 GUCY2D CRX AIPL1
32 newfoundland rod-cone dystrophy 10.2 RHO LRAT
33 cone-rod dystrophy 9 10.2 GUCY2D CNGB3
34 severe early-childhood-onset retinal dystrophy 10.2 SPATA7 RPE65 LRAT LCA5
35 cone-rod dystrophy 3 10.2 GUCY2D CRYAA CRX
36 colorblindness, partial, protan series 10.1 RHO CNGB3
37 pigmented paravenous chorioretinal atrophy 10.1 RDH12 GUCY2D CRB1 AIPL1
38 retinitis pigmentosa 38 10.1 TULP1 RPE65 MERTK
39 achromatopsia 4 10.1 RPE65 RHO CNGB3
40 occult macular dystrophy 10.1 RHO GUCY2D CNGB3
41 nanophthalmos 10.1 RPE65 RHO LCA5 CRB1
42 cone-rod dystrophy 8 10.1 LCA5 GUCY2D CNGB3 AIPL1
43 aland island eye disease 10.0 RPGRIP1 RPE65 GUCY2D
44 yemenite deaf-blind hypopigmentation syndrome 10.0 RPE65 RHO GUCY2D CEP290 AIPL1
45 leber congenital amaurosis 14 10.0 SPATA7 RDH12 LRAT LCA5 AIPL1
46 cone-rod dystrophy, x-linked, 3 10.0 RPGR CRYAA
47 optic nerve hypoplasia, bilateral 10.0 RPE65 RHO CRX CRB1
48 retinitis pigmentosa 35 10.0 RPGR RDH12
49 joubert syndrome 7 10.0 RPGRIP1 CEP290
50 central core myopathy 10.0 RYR2 CRX

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:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 cataract 31 HP:0000518
3 blindness 31 HP:0000618
4 photophobia 31 HP:0000613
5 keratoconus 31 HP:0000563
6 cerebellar vermis hypoplasia 31 HP:0001320
7 pigmentary retinopathy 31 HP:0000580
8 fundus atrophy 31 HP:0001099
9 decreased light- and dark-adapted electroretinogram amplitude 31 HP:0000654
10 eye poking 31 HP:0001483

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 20-May-2021)

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

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.17 GUCY2D MERTK
2 Decreased viability GR00055-A-2 10.17 GUCY2D MERTK
3 Decreased viability GR00221-A-1 10.17 GUCY2D MERTK RPGRIP1
4 Decreased viability GR00221-A-2 10.17 GUCY2D RPGRIP1
5 Decreased viability GR00221-A-3 10.17 GUCY2D
6 Decreased viability GR00221-A-4 10.17 GUCY2D MERTK RPGRIP1
7 Decreased viability GR00240-S-1 10.17 GUCY2D
8 Decreased viability GR00249-S 10.17 CRX CRYAA GUCY2D RYR2
9 Decreased viability GR00301-A 10.17 RPGRIP1
10 Decreased viability GR00381-A-1 10.17 LRAT RPGRIP1
11 Decreased viability GR00386-A-1 10.17 CRX GUCY2D IMPDH1 LCA5 LRAT RPGRIP1
12 Decreased viability GR00402-S-2 10.17 CRYAA GUCY2D LCA5 RDH12 RHO SPATA7
13 Increased the percentage of infected cells GR00402-S-1 8.32 RDH12

MGI Mouse Phenotypes related to Leber Congenital Amaurosis 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.11 AIPL1 CEP290 CNGB3 CRB1 CRX GUCY2D
2 pigmentation MP:0001186 9.61 CEP290 CRB1 CRX LCA5 MERTK RHO
3 vision/eye MP:0005391 9.58 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 Recruiting 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) 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 29 RPE65

Anatomical Context for Leber Congenital Amaurosis 2

MalaCards organs/tissues related to Leber Congenital Amaurosis 2:

40
Eye, Retina, Bone Marrow, Cortex, Pancreatic Islet, Bone, Lung

Publications for Leber Congenital Amaurosis 2

Articles related to Leber Congenital Amaurosis 2:

(show top 50) (show all 111)
# Title Authors PMID Year
1
Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial. 6 57
19854499 2009
2
Effect of gene therapy on visual function in Leber's congenital amaurosis. 57 6
18441371 2008
3
Thirty-year follow-up of a patient with leber congenital amaurosis and novel RPE65 mutations. 6 57
14962443 2004
4
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. 6 57
12960219 2003
5
Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis. 6 57
9501220 1998
6
Mutations in RPE65 cause Leber's congenital amaurosis. 57 6
9326927 1997
7
Amaurosis congenita (Leber). 57 6
13616783 1959
8
Nature of the visual loss in observers with Leber's congenital amaurosis caused by specific mutations in RPE65. 61 6
25257057 2014
9
Safety and efficacy of gene transfer for Leber's congenital amaurosis. 61 57
18441370 2008
10
RPE65 mutation frequency and phenotypic variation according to exome sequencing in a tertiary centre for genetic eye diseases in China. 6
31273949 2020
11
A high prevalence of biallelic RPE65 mutations in Costa Rican children with Leber congenital amaurosis and early-onset retinal dystrophy. 6
30870047 2019
12
The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene. 6
30268864 2019
13
Development of a molecular diagnostic test for Retinitis Pigmentosa in the Japanese population. 6
29785639 2018
14
Early onset flecked retinal dystrophy associated with new compound heterozygous RPE65 variants. 6
29681726 2018
15
Severe Loss of Tritan Color Discrimination in RPE65 Associated Leber Congenital Amaurosis. 6
29332120 2018
16
Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance. 6
28714225 2017
17
Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy. 6
29186038 2017
18
The genetic profile of Leber congenital amaurosis in an Australian cohort. 6
29178642 2017
19
Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association. 6
28130426 2017
20
Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies. 6
28181551 2017
21
Molecular findings from 537 individuals with inherited retinal disease. 6
27208204 2016
22
Preserved visual function in retinal dystrophy due to hypomorphic RPE65 mutations. 6
26906952 2016
23
The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity. 6
27628848 2016
24
Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark. 6
26626312 2016
25
Functional Rescue of Retinal Degeneration-Associated Mutant RPE65 Proteins. 6
26427455 2016
26
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. 6
26364624 2015
27
Temperature-sensitive retinoid isomerase activity of RPE65 mutants associated with Leber Congenital Amaurosis. 6
25752820 2015
28
Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort. 6
26047050 2015
29
Autofluorescence imaging with near-infrared excitation:normalization by reflectance to reduce signal from choroidal fluorophores. 6
26024124 2015
30
Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing. 6
25356976 2015
31
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). 6
26656277 2015
32
Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families. 6
26147992 2015
33
Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay. 6
24997176 2014
34
Rescue of enzymatic function for disease-associated RPE65 proteins containing various missense mutations in non-active sites. 6
24849605 2014
35
Next-generation genetic testing for retinitis pigmentosa. 6
22334370 2012
36
Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years. 6
21911650 2012
37
Fundus albipunctatus associated with compound heterozygous mutations in RPE65. 6
21211845 2011
38
Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis. 6
21153841 2011
39
Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. 6
20801516 2011
40
The phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from mutation of RPE65 and differentiation from Leber congenital amaurosis. 6
20811047 2011
41
Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray. 6
21151602 2010
42
Molecular anthropology meets genetic medicine to treat blindness in the North African Jewish population: human gene therapy initiated in Israel. 6
20604683 2010
43
Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes. 6
20683928 2010
44
Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa. 6
20079931 2010
45
Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis. 6
19959640 2010
46
Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions. 57
20006823 2009
47
Vision 1 year after gene therapy for Leber's congenital amaurosis. 57
19675341 2009
48
Predicting the pathogenicity of RPE65 mutations. 6
19431183 2009
49
Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations. 6
19117922 2009
50
A comprehensive clinical and biochemical functional study of a novel RPE65 hypomorphic mutation. 6
18599565 2008

Variations for Leber Congenital Amaurosis 2

ClinVar genetic disease variations for Leber Congenital Amaurosis 2:

6 (show top 50) (show all 290)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RPE65 NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp) SNV Pathogenic 13120 rs121917745 GRCh37: 1:68895518-68895518
GRCh38: 1:68429835-68429835
2 RPE65 NM_000329.3(RPE65):c.1102T>C (p.Tyr368His) SNV Pathogenic 29870 rs62653011 GRCh37: 1:68903896-68903896
GRCh38: 1:68438213-68438213
3 RPE65 NM_000329.3(RPE65):c.11+5G>A SNV Pathogenic 98825 rs61751276 GRCh37: 1:68915573-68915573
GRCh38: 1:68449890-68449890
4 RPE65 NM_000329.3(RPE65):c.907A>T (p.Lys303Ter) SNV Pathogenic 29872 rs61752904 GRCh37: 1:68904716-68904716
GRCh38: 1:68439033-68439033
5 RPE65 NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys) SNV Pathogenic 29873 rs62636300 GRCh37: 1:68897011-68897011
GRCh38: 1:68431328-68431328
6 RPE65 NM_000329.3(RPE65):c.271C>T (p.Arg91Trp) SNV Pathogenic 13115 rs61752871 GRCh37: 1:68910541-68910541
GRCh38: 1:68444858-68444858
7 RPE65 NM_000329.3(RPE65):c.130C>T (p.Arg44Ter) SNV Pathogenic 374497 rs368088025 GRCh37: 1:68912508-68912508
GRCh38: 1:68446825-68446825
8 RPE65 NM_000329.3(RPE65):c.419G>A (p.Gly140Glu) SNV Pathogenic 467827 rs1191496583 GRCh37: 1:68910290-68910290
GRCh38: 1:68444607-68444607
9 RPE65 NM_000329.3(RPE65):c.95-2A>T SNV Pathogenic 98899 rs61751279 GRCh37: 1:68912545-68912545
GRCh38: 1:68446862-68446862
10 RPE65 NM_000329.3(RPE65):c.10del (p.Gln4fs) Deletion Pathogenic 569113 rs747393487 GRCh37: 1:68915579-68915579
GRCh38: 1:68449896-68449896
11 RPE65 NM_000329.3(RPE65):c.131G>A (p.Arg44Gln) SNV Pathogenic 98840 rs61751282 GRCh37: 1:68912507-68912507
GRCh38: 1:68446824-68446824
12 RPE65 NM_000329.3(RPE65):c.304G>T (p.Glu102Ter) SNV Pathogenic 98863 rs62642584 GRCh37: 1:68910508-68910508
GRCh38: 1:68444825-68444825
13 RPE65 NM_000329.3(RPE65):c.1067dup (p.Asn356fs) Duplication Pathogenic 596673 rs281865520 GRCh37: 1:68903930-68903931
GRCh38: 1:68438247-68438248
14 RPE65 NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs) Deletion Pathogenic 98860 rs62642583 GRCh37: 1:68910501-68910520
GRCh38: 1:68444818-68444837
15 RPE65 NM_000329.3(RPE65):c.1087C>A (p.Pro363Thr) SNV Pathogenic 13117 rs121917744 GRCh37: 1:68903911-68903911
GRCh38: 1:68438228-68438228
16 RPE65 NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp) SNV Pathogenic 13120 rs121917745 GRCh37: 1:68895518-68895518
GRCh38: 1:68429835-68429835
17 RPE65 NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter) SNV Pathogenic 660359 rs774130993 GRCh37: 1:68897192-68897192
GRCh38: 1:68431509-68431509
18 RPE65 NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser) SNV Pathogenic 13118 rs61752909 GRCh37: 1:68903976-68903976
GRCh38: 1:68438293-68438293
19 RPE65 NM_000329.3(RPE65):c.370C>T (p.Arg124Ter) SNV Pathogenic 98866 rs61752877 GRCh37: 1:68910339-68910339
GRCh38: 1:68444656-68444656
20 RPE65 NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs) Deletion Pathogenic 98860 rs62642583 GRCh37: 1:68910501-68910520
GRCh38: 1:68444818-68444837
21 overlap with 2 genes NC_000001.11:g.(?_68438187)_(68484090_?)del Deletion Pathogenic 830561 GRCh37: 1:68903870-68949773
GRCh38:
22 RPE65 NM_000329.3(RPE65):c.507C>A (p.Cys169Ter) SNV Pathogenic 838191 GRCh37: 1:68906672-68906672
GRCh38: 1:68440989-68440989
23 RPE65 NM_000329.3(RPE65):c.1583G>T (p.Gly528Val) SNV Pathogenic 801494 rs1193631220 GRCh37: 1:68895478-68895478
GRCh38: 1:68429795-68429795
24 RPE65 NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser) SNV Pathogenic 13118 rs61752909 GRCh37: 1:68903976-68903976
GRCh38: 1:68438293-68438293
25 RPE65 NM_000329.3(RPE65):c.118G>A (p.Gly40Ser) SNV Pathogenic 98830 rs61751281 GRCh37: 1:68912520-68912520
GRCh38: 1:68446837-68446837
26 RPE65 NM_000329.3(RPE65):c.147_148insCAAA (p.Phe50fs) Insertion Pathogenic 848072 GRCh37: 1:68912490-68912491
GRCh38: 1:68446807-68446808
27 RPE65 NM_000329.3(RPE65):c.242G>T (p.Arg81Ile) SNV Pathogenic 559523 rs1429137932 GRCh37: 1:68912396-68912396
GRCh38: 1:68446713-68446713
28 RPE65 NM_000329.3(RPE65):c.1102T>C (p.Tyr368His) SNV Pathogenic 29870 rs62653011 GRCh37: 1:68903896-68903896
GRCh38: 1:68438213-68438213
29 RPE65 NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys) SNV Pathogenic 29873 rs62636300 GRCh37: 1:68897011-68897011
GRCh38: 1:68431328-68431328
30 RPE65 NM_000329.3(RPE65):c.715T>G (p.Tyr239Asp) SNV Pathogenic 98889 rs61752896 GRCh37: 1:68905254-68905254
GRCh38: 1:68439571-68439571
31 RPE65 NM_000329.3(RPE65):c.370C>T (p.Arg124Ter) SNV Pathogenic 98866 rs61752877 GRCh37: 1:68910339-68910339
GRCh38: 1:68444656-68444656
32 RPE65 NM_000329.3(RPE65):c.11+5G>A SNV Pathogenic 98825 rs61751276 GRCh37: 1:68915573-68915573
GRCh38: 1:68449890-68449890
33 RPE65 NM_000329.3(RPE65):c.700C>T (p.Arg234Ter) SNV Pathogenic 13114 rs61752895 GRCh37: 1:68905269-68905269
GRCh38: 1:68439586-68439586
34 RPE65 NM_000329.3(RPE65):c.1067del (p.Asn356fs) Deletion Pathogenic 98821 rs281865520 GRCh37: 1:68903931-68903931
GRCh38: 1:68438248-68438248
35 RPE65 NM_000329.3(RPE65):c.272G>A (p.Arg91Gln) SNV Pathogenic 98857 rs61752873 GRCh37: 1:68910540-68910540
GRCh38: 1:68444857-68444857
36 RPE65 NM_000329.3(RPE65):c.1380G>A (p.Trp460Ter) SNV Pathogenic 870343 GRCh37: 1:68896818-68896818
GRCh38: 1:68431135-68431135
37 RPE65 NM_000329.3(RPE65):c.746A>G (p.Tyr249Cys) SNV Pathogenic 937681 GRCh37: 1:68904986-68904986
GRCh38: 1:68439303-68439303
38 RPE65 NM_000329.3(RPE65):c.715T>G (p.Tyr239Asp) SNV Pathogenic 98889 rs61752896 GRCh37: 1:68905254-68905254
GRCh38: 1:68439571-68439571
39 RPE65 NM_000329.3(RPE65):c.65T>C (p.Leu22Pro) SNV Pathogenic 98888 rs61751277 GRCh37: 1:68914336-68914336
GRCh38: 1:68448653-68448653
40 RPE65 NM_000329.3(RPE65):c.560G>A (p.Gly187Glu) SNV Pathogenic 801497 rs752058510 GRCh37: 1:68906619-68906619
GRCh38: 1:68440936-68440936
41 RPE65 NM_000329.3(RPE65):c.893del (p.Lys298fs) Deletion Pathogenic 372493 rs61752902 GRCh37: 1:68904730-68904730
GRCh38: 1:68439047-68439047
42 RPE65 NM_000329.3(RPE65):c.829_833del (p.Asp277fs) Deletion Pathogenic 955219 GRCh37: 1:68904899-68904903
GRCh38: 1:68439216-68439220
43 RPE65 NM_000329.3(RPE65):c.962dup (p.Asn321fs) Duplication Pathogenic 98902 rs61752906 GRCh37: 1:68904660-68904661
GRCh38: 1:68438977-68438978
44 RPE65 NM_000329.3(RPE65):c.700C>T (p.Arg234Ter) SNV Pathogenic 13114 rs61752895 GRCh37: 1:68905269-68905269
GRCh38: 1:68439586-68439586
45 RPE65 NM_000329.3(RPE65):c.421G>T (p.Glu141Ter) SNV Pathogenic 970047 GRCh37: 1:68910288-68910288
GRCh38: 1:68444605-68444605
46 RPE65 NM_000329.3(RPE65):c.1338G>T (p.Arg446Ser) SNV Pathogenic 427864 rs1420672586 GRCh37: 1:68896965-68896965
GRCh38: 1:68431282-68431282
47 RPE65 NM_000329.3(RPE65):c.843_858+7del Deletion Pathogenic 973957 GRCh37: 1:68904867-68904889
GRCh38: 1:68439184-68439206
48 RPE65 NM_000329.3(RPE65):c.993G>A (p.Trp331Ter) SNV Pathogenic 973960 GRCh37: 1:68904630-68904630
GRCh38: 1:68438947-68438947
49 RPE65 NM_000329.3(RPE65):c.1087C>A (p.Pro363Thr) SNV Pathogenic 13117 rs121917744 GRCh37: 1:68903911-68903911
GRCh38: 1:68438228-68438228
50 RPE65 NM_000329.3(RPE65):c.1384G>T (p.Glu462Ter) SNV Pathogenic 98845 rs62637006 GRCh37: 1:68896814-68896814
GRCh38: 1:68431131-68431131

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

72 (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 rs137594336
26 RPE65 p.Gly40Asp VAR_081684
27 RPE65 p.Thr101Ile VAR_083292 rs144423403
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
12.5 RPE65 RHO RDH12 LRAT IMPDH1
2
Show member pathways
11.99 RPE65 RHO RDH12 LRAT GUCY2D
3
Show member pathways
11.63 RPE65 RHO RDH12 LRAT GUCY2D CNGB3
4
Show member pathways
11.2 RPE65 RHO RDH12 LRAT
5 11.14 RPE65 RDH12 LRAT
6 11.07 RPE65 RHO 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 cell projection GO:0042995 9.85 TULP1 SPATA7 RPGRIP1 RPGR RHO RD3
2 cilium GO:0005929 9.8 TULP1 RPGRIP1 RPGR LCA5 CEP290
3 ciliary basal body GO:0036064 9.67 SPATA7 RPGR LCA5 CEP290
4 axoneme GO:0005930 9.63 SPATA7 RPGRIP1 LCA5
5 photoreceptor connecting cilium GO:0032391 9.56 SPATA7 RPGRIP1 LCA5 CEP290
6 photoreceptor disc membrane GO:0097381 9.48 RHO GUCY2D
7 photoreceptor outer segment membrane GO:0042622 9.43 RHO GUCY2D
8 photoreceptor inner segment GO:0001917 9.43 TULP1 RHO RDH12 RD3 CRB1 AIPL1
9 photoreceptor inner segment membrane GO:0060342 9.32 RHO RDH12
10 photoreceptor outer segment GO:0001750 9.28 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 response to stimulus GO:0050896 9.8 TULP1 SPATA7 RPGRIP1 RPGR RPE65 RHO
2 photoreceptor cell maintenance GO:0045494 9.73 TULP1 SPATA7 RHO RDH12 LCA5 CRB1
3 retina development in camera-type eye GO:0060041 9.7 TULP1 RPGRIP1 RPE65 RHO RD3 MERTK
4 retinoid metabolic process GO:0001523 9.67 RPE65 RHO RDH12 LRAT
5 retinol metabolic process GO:0042572 9.65 RPE65 RDH12 LRAT
6 retina homeostasis GO:0001895 9.63 TULP1 RPE65 AIPL1
7 eye photoreceptor cell development GO:0042462 9.62 TULP1 RPGRIP1 CRB1 CEP290
8 regulation of rhodopsin mediated signaling pathway GO:0022400 9.61 RHO GUCY2D AIPL1
9 detection of light stimulus involved in visual perception GO:0050908 9.58 TULP1 RPE65 CRB1
10 cellular response to light stimulus GO:0071482 9.55 RHO CRB1
11 retina morphogenesis in camera-type eye GO:0060042 9.54 RPE65 CRB1
12 phototransduction, visible light GO:0007603 9.52 RHO AIPL1
13 vitamin A metabolic process GO:0006776 9.51 RPE65 LRAT
14 visual perception GO:0007601 9.5 TULP1 SPATA7 RPGRIP1 RPGR RPE65 RHO
15 protein localization to photoreceptor outer segment GO:1903546 9.49 TULP1 SPATA7

Sources for Leber Congenital Amaurosis 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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