LCA1
MCID: LBR004
MIFTS: 53

Leber Congenital Amaurosis 1 (LCA1)

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

Aliases & Classifications for Leber Congenital Amaurosis 1

MalaCards integrated aliases for Leber Congenital Amaurosis 1:

Name: Leber Congenital Amaurosis 1 57 12 20 72 29 13 6 15
Lca1 57 12 20 72
Amaurosis Congenita of Leber, Type 1 73 20 70
Amaurosis Congenita of Leber I 57 12
Retinal Blindness, Congenital 57 20
Crb 57 20
Retinal Blindness, Congenital; Crb 57
Leber Congenital Amaurosis, Type 1 39
Leber Congenital Amaurosis Type 1 20
Leber Congenital Amaurosis Type I 72
Lca 57

Characteristics:

OMIM®:

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


HPO:

31
leber congenital amaurosis 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Leber Congenital Amaurosis 1

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). (204000) (Updated 20-May-2021)

MalaCards based summary : Leber Congenital Amaurosis 1, also known as lca1, is related to leber congenital amaurosis / early-onset severe retinal dystrophy and leber congenital amaurosis 14, and has symptoms including photophobia An important gene associated with Leber Congenital Amaurosis 1 is GUCY2D (Guanylate Cyclase 2D, Retinal), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Phototransduction. Affiliated tissues include eye, retina and bone marrow, and related phenotypes are intellectual disability and nystagmus

Disease Ontology : 12 A Leber congenital amaurosis characterized by severe cone-rod dystrophy with photophobia, high hyperopia, and poor but stable vision with no visual improvement and that has material basis in mutation in the GUCY2D gene on chromosome 17p13.

UniProtKB/Swiss-Prot : 72 Leber congenital amaurosis 1: 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 1

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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 148)
# Related Disease Score Top Affiliating Genes
1 leber congenital amaurosis / early-onset severe retinal dystrophy 32.0 RPE65 CEP290 AIPL1
2 leber congenital amaurosis 14 31.7 SPATA7 RDH12 LRAT LCA5 AIPL1
3 leber congenital amaurosis 11 31.6 SPATA7 RDH12 LCA5 IMPDH1 AIPL1
4 leber congenital amaurosis 15 31.6 TULP1 SPATA7 RDH12 RD3 LCA5 IMPDH1
5 leber congenital amaurosis 7 31.5 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D CRX
6 senior-loken syndrome 1 31.4 TULP1 SPATA7 RPGRIP1 RPE65 RDH12 LCA5
7 leber congenital amaurosis 8 31.3 TULP1 SPATA7 RPE65 RDH12 LCA5 IMPDH1
8 leber congenital amaurosis 6 31.2 TULP1 SPATA7 RPGRIP1 RDH12 LCA5 IMPDH1
9 leber congenital amaurosis 2 31.1 TULP1 SPATA7 RPGRIP1 RPE65 RDH12 RD3
10 leber congenital amaurosis 9 31.1 TULP1 SPATA7 RPE65 RDH12 LRAT LCA5
11 leber congenital amaurosis 10 31.0 TULP1 SPATA7 RPGRIP1 RPE65 RDH12 RD3
12 leber congenital amaurosis 4 30.9 TULP1 SPATA7 RPGRIP1 RPE65 RDH12 RD3
13 leber congenital amaurosis 3 30.9 TULP1 SPATA7 RPGRIP1 RPE65 RDH12 RD3
14 yemenite deaf-blind hypopigmentation syndrome 30.7 RPE65 GUCY2D CEP290 AIPL1
15 cone-rod dystrophy 6 30.4 RPGRIP1 RPE65 RD3 GUCY2F GUCY2D GUCA1B
16 retinitis 30.3 RPGRIP1 RPE65 RP1 IMPDH1 CRB1
17 leber congenital amaurosis 5 30.3 TULP1 SPATA7 RPGRIP1 RDH12 RD3 LRAT
18 nephronophthisis 30.2 SPATA7 RPGRIP1 LCA5 CEP290
19 retinitis pigmentosa 20 30.2 RPE65 LRAT
20 vitelliform macular dystrophy 30.2 RPE65 GUCY2D CRX CRB1
21 night blindness 30.0 RPE65 LRAT GUCY2D GRK1 CRB1 CEP290
22 leber congenital amaurosis 13 29.9 TULP1 SPATA7 RPGRIP1 RDH12 LCA5 CEP290
23 retinal disease 29.7 TULP1 RPGRIP1 RPE65 RDH12 LRAT IMPDH1
24 coloboma of macula 29.7 CRX CRB1 CEP290
25 leber plus disease 29.6 TULP1 SPATA7 RPGRIP1 RPE65 RDH12 RD3
26 pathologic nystagmus 29.6 TULP1 SPATA7 RPGRIP1 RPE65 RDH12 LCA5
27 retinal degeneration 29.4 TULP1 SPATA7 RPGRIP1 RPE65 RP1 RDH12
28 congenital stationary night blindness 29.4 TULP1 RPGRIP1 RPE65 RDH12 RD3 LRAT
29 joubert syndrome 1 29.2 TULP1 SPATA7 RPGRIP1 RPE65 RDH12 RD3
30 retinitis pigmentosa 29.1 TULP1 SPATA7 RPGRIP1 RPE65 RP1 RDH12
31 fundus dystrophy 29.1 TULP1 SPATA7 RPGRIP1 RPE65 RP1 RDH12
32 cone-rod dystrophy 2 29.1 TULP1 SPATA7 RPGRIP1 RPE65 RP1 RDH12
33 cone dystrophy 28.9 TULP1 SPATA7 RPGRIP1 RPE65 RP1 RDH12
34 littoral cell angioma of the spleen 11.3
35 arima syndrome 11.0
36 rpe65-related leber congenital amaurosis / early-onset severe retinal dystrophy 11.0
37 congenital muscular dystrophy with cerebellar involvement 11.0
38 anomalous left coronary artery from the pulmonary artery 10.9
39 nystagmus 1, congenital, x-linked 10.9
40 senior-loken syndrome 5 10.9
41 leber congenital amaurosis 19 10.9
42 pneumonia 10.5
43 cone-rod dystrophy 17 10.4 GUCY2D AIPL1
44 retinitis pigmentosa 34 10.4 RPGRIP1 CRX
45 optic disk drusen 10.4 RPGRIP1 CRB1
46 solar retinopathy 10.4 RDH12 CRB1
47 cone-rod dystrophy 8 10.4 LCA5 GUCY2D AIPL1
48 retinitis pigmentosa 63 10.4 SPATA7 CRX
49 chorioretinal scar 10.4 RDH12 CRB1
50 macular dystrophy, dominant cystoid 10.4 TULP1 RPE65 CRB1

Graphical network of the top 20 diseases related to Leber Congenital Amaurosis 1:



Diseases related to Leber Congenital Amaurosis 1

Symptoms & Phenotypes for Leber Congenital Amaurosis 1

Human phenotypes related to Leber Congenital Amaurosis 1:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 nystagmus 31 HP:0000639
3 cataract 31 HP:0000518
4 hepatomegaly 31 HP:0002240
5 sensorineural hearing impairment 31 HP:0000407
6 blindness 31 HP:0000618
7 photophobia 31 HP:0000613
8 growth delay 31 HP:0001510
9 keratoconus 31 HP:0000563
10 pigmentary retinopathy 31 HP:0000580
11 fundus atrophy 31 HP:0001099
12 hyperthreoninemia 31 HP:0003354
13 decreased light- and dark-adapted electroretinogram amplitude 31 HP:0000654
14 eye poking 31 HP:0001483
15 hyperthreoninuria 31 HP:0003296

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
nystagmus
cataract
blindness
photophobia
keratoconus
more
Laboratory Abnormalities:
hyperthreoninemia
hyperthreoninuria

Growth Other:
retarded growth

Abdomen Liver:
hepatomegaly

Neurologic Central Nervous System:
mental retardation

Head And Neck Ears:
sensory hearing loss

Clinical features from OMIM®:

204000 (Updated 20-May-2021)

UMLS symptoms related to Leber Congenital Amaurosis 1:


photophobia

GenomeRNAi Phenotypes related to Leber Congenital Amaurosis 1 according to GeneCards Suite gene sharing:

26 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.17 GUCY2D
2 Decreased viability GR00055-A-2 10.17 GUCY2D
3 Decreased viability GR00221-A-1 10.17 GRK1 GUCY2D 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 RPGRIP1
7 Decreased viability GR00240-S-1 10.17 GUCY2D
8 Decreased viability GR00249-S 10.17 CRX GUCY2D
9 Decreased viability GR00301-A 10.17 GRK1 RPGRIP1
10 Decreased viability GR00342-S-1 10.17 GRK1
11 Decreased viability GR00342-S-2 10.17 GRK1
12 Decreased viability GR00381-A-1 10.17 GUCA1A LRAT RPGRIP1
13 Decreased viability GR00386-A-1 10.17 CRX GUCA1A GUCA1B GUCY2D IMPDH1 LCA5
14 Decreased viability GR00402-S-2 10.17 GRK1 GUCY2D LCA5 RDH12 SPATA7
15 Increased the percentage of infected cells GR00402-S-1 8.32 RDH12

MGI Mouse Phenotypes related to Leber Congenital Amaurosis 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.11 AIPL1 CEP290 CRB1 CRX GRK1 GUCA1A
2 vision/eye MP:0005391 9.62 AIPL1 CEP290 CRB1 CRX GRK1 GUCA1A
3 pigmentation MP:0001186 9.5 CEP290 CRB1 CRX LCA5 PROM1 RPE65

Drugs & Therapeutics for Leber Congenital Amaurosis 1

Search Clinical Trials , NIH Clinical Center for Leber Congenital Amaurosis 1

Genetic Tests for Leber Congenital Amaurosis 1

Genetic tests related to Leber Congenital Amaurosis 1:

# Genetic test Affiliating Genes
1 Leber Congenital Amaurosis 1 29 GUCY2D

Anatomical Context for Leber Congenital Amaurosis 1

MalaCards organs/tissues related to Leber Congenital Amaurosis 1:

40
Eye, Retina, Bone Marrow, Lung, Pineal, Bone, Spleen

Publications for Leber Congenital Amaurosis 1

Articles related to Leber Congenital Amaurosis 1:

(show top 50) (show all 118)
# Title Authors PMID Year
1
Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants. 61 6 57
23035049 2013
2
Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis. 61 6 57
8944027 1996
3
Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay. 57 6
24997176 2014
4
Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis. 57 6
16505055 2006
5
Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles. 57 6
16123401 2005
6
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. 6 57
15024725 2004
7
Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin. 57 6
12325031 2002
8
Impaired association of retinal degeneration-3 with guanylate cyclase-1 and guanylate cyclase-activating protein-1 leads to leber congenital amaurosis-1. 6 61
25477517 2015
9
Complete abolition of the retinal-specific guanylyl cyclase (retGC-1) catalytic ability consistently leads to leber congenital amaurosis (LCA). 61 6
11328726 2001
10
Spectrum of retGC1 mutations in Leber's congenital amaurosis. 6 61
10951519 2000
11
Leber congenital amaurosis. 61 57
10527670 1999
12
Functional consequences of a rod outer segment membrane guanylate cyclase (ROS-GC1) gene mutation linked with Leber's congenital amaurosis. 6 61
9888789 1999
13
Evidence of genetic heterogeneity of Leber's congenital amaurosis (LCA) and mapping of LCA1 to chromosome 17p13. 57 61
8641699 1996
14
A gene for Leber's congenital amaurosis maps to chromosome 17p. 61 57
7581387 1995
15
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases. 6
33546218 2021
16
Expanded Retinal Disease Spectrum Associated With Autosomal Recessive Mutations in GUCY2D. 6
29559409 2018
17
Genotype-functional-phenotype correlations in photoreceptor guanylate cyclase (GC-E) encoded by GUCY2D. 6
29061346 2018
18
Genetic profile and mutation spectrum of Leber congenital amaurosis in a larger Indian cohort using high throughput targeted re-sequencing. 6
29068479 2018
19
Antioxidant effect of aqueous extract of four plants with therapeutic potential on gynecological diseases; Semen persicae, Leonurus cardiaca, Hedyotis diffusa, and Curcuma zedoaria. 6
29178942 2017
20
The genetic profile of Leber congenital amaurosis in an Australian cohort. 6
29178642 2017
21
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. 6
28041643 2017
22
Clinical and genetic characteristics of Leber congenital amaurosis with novel mutations in known genes based on a Chinese eastern coast Han population. 6
27422788 2016
23
Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark. 6
26626312 2016
24
Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies. 6
26355662 2016
25
Novel Mutations in Two Saudi Patients with Congenital Retinal Dystrophy. 6
26957854 2016
26
GUCY2D mutations in a Chinese cohort with autosomal dominant cone or cone-rod dystrophies. 6
26298565 2015
27
Outcome measure for the treatment of cone photoreceptor diseases: orientation to a scene with cone-only contrast. 6
26253563 2015
28
Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort. 6
26047050 2015
29
GUCY2D- or GUCA1A-related autosomal dominant cone-rod dystrophy: is there a phenotypic difference? 6
24875811 2014
30
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. 6
23847139 2013
31
IROme, a new high-throughput molecular tool for the diagnosis of inherited retinal dystrophies. 6
23484092 2013
32
Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis. 57
21153841 2011
33
Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis. 6
21602930 2011
34
Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes. 6
20683928 2010
35
Activation of retinal guanylyl cyclase RetGC1 by GCAP1: stoichiometry of binding and effect of new LCA-related mutations. 6
20050595 2010
36
Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions. 57
20006823 2009
37
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. 57
19430481 2009
38
Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture. 6
17964524 2007
39
An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy. 6
18055820 2007
40
Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. 6
17724218 2007
41
Evaluation of genotype-phenotype associations in leber congenital amaurosis. 6
16205573 2005
42
Autosomal dominant cone-rod dystrophy with R838H and R838C mutations in the GUCY2D gene in Japanese patients. 6
15175914 2004
43
Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosis. 57
12623820 2003
44
Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance. 6
12552567 2003
45
Molecular genetics of Leber congenital amaurosis. 57
12015276 2002
46
Functional characterization of missense mutations at codon 838 in retinal guanylate cyclase correlates with disease severity in patients with autosomal dominant cone-rod dystrophy. 6
11115851 2000
47
Mutation analysis of 3 genes in patients with Leber congenital amaurosis. 6
10766140 2000
48
Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis. 57
10615133 2000
49
A nonsense mutation in the retinal specific guanylate cyclase gene is the cause of Leber congenital amaurosis in a large inbred kindred from Jordan. 6
10636733 1999
50
Mental retardation in amaurosis congenita of Leber. 57
10029347 1998

Variations for Leber Congenital Amaurosis 1

ClinVar genetic disease variations for Leber Congenital Amaurosis 1:

6 (show top 50) (show all 381)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GUCY2D NM_000180.4(GUCY2D):c.1694T>C (p.Phe565Ser) SNV Pathogenic 9350 rs61749755 GRCh37: 17:7912849-7912849
GRCh38: 17:8009531-8009531
2 GUCY2D NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs) Deletion Pathogenic 98602 rs61749670 GRCh37: 17:7906752-7906752
GRCh38: 17:8003434-8003434
3 GUCY2D NM_000180.4(GUCY2D):c.622del (p.Arg208fs) Deletion Pathogenic 98607 rs61749671 GRCh37: 17:7906985-7906985
GRCh38: 17:8003667-8003667
4 GUCY2D GUCY2D, 1-BP DEL, 2943G Deletion Pathogenic 9358 GRCh37:
GRCh38:
5 GUCY2D NM_000180.4(GUCY2D):c.3233_3236dup (p.His1079fs) Duplication Pathogenic 65572 rs386834239 GRCh37: 17:7919766-7919767
GRCh38: 17:8016448-8016449
6 GUCY2D NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp) SNV Pathogenic 98563 rs61750168 GRCh37: 17:7917236-7917236
GRCh38: 17:8013918-8013918
7 GUCY2D NM_000180.4(GUCY2D):c.2377del (p.Glu793fs) Deletion Pathogenic 471236 rs1555635668 GRCh37: 17:7917310-7917310
GRCh38: 17:8013992-8013992
8 GUCY2D NM_000180.4(GUCY2D):c.2114-27_2263+18del Deletion Pathogenic 430835 rs1555635550 GRCh37: 17:7916391-7916585
GRCh38: 17:8013073-8013267
9 TULP1 NM_003322.6(TULP1):c.524dup (p.Pro176fs) Duplication Pathogenic 547179 rs1327062642 GRCh37: 6:35477680-35477681
GRCh38: 6:35509903-35509904
10 GUCY2D NM_000180.4(GUCY2D):c.2563C>T (p.Gln855Ter) SNV Pathogenic 497765 rs1555635778 GRCh37: 17:7918069-7918069
GRCh38: 17:8014751-8014751
11 GUCY2D NM_000180.4(GUCY2D):c.3224+1G>C SNV Pathogenic 581095 rs757823463 GRCh37: 17:7919609-7919609
GRCh38: 17:8016291-8016291
12 GUCY2D NC_000017.11:g.(?_8002902)_(8016550_?)del Deletion Pathogenic 584235 GRCh37: 17:7906220-7919868
GRCh38: 17:8002902-8016550
13 GUCY2D NM_000180.4(GUCY2D):c.2766C>G (p.Tyr922Ter) SNV Pathogenic 587413 rs1006935198 GRCh37: 17:7918366-7918366
GRCh38: 17:8015048-8015048
14 GUCY2D NM_000180.4(GUCY2D):c.2303G>A (p.Arg768Gln) SNV Pathogenic 560463 rs750889782 GRCh37: 17:7917237-7917237
GRCh38: 17:8013919-8013919
15 GUCY2D NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs) Deletion Pathogenic 98602 rs61749670 GRCh37: 17:7906752-7906752
GRCh38: 17:8003434-8003434
16 GUCY2D NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp) SNV Pathogenic 98563 rs61750168 GRCh37: 17:7917236-7917236
GRCh38: 17:8013918-8013918
17 GUCY2D NM_000180.4(GUCY2D):c.1561C>T (p.Arg521Ter) SNV Pathogenic 638494 rs748798324 GRCh37: 17:7910841-7910841
GRCh38: 17:8007523-8007523
18 GUCY2D NM_000180.4(GUCY2D):c.914del (p.His305fs) Deletion Pathogenic 642720 rs1598144694 GRCh37: 17:7907362-7907362
GRCh38: 17:8004044-8004044
19 GUCY2D NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp) SNV Pathogenic 98563 rs61750168 GRCh37: 17:7917236-7917236
GRCh38: 17:8013918-8013918
20 GUCY2D NM_000180.4(GUCY2D):c.1633C>T (p.Gln545Ter) SNV Pathogenic 689384 rs1290420698 GRCh37: 17:7911315-7911315
GRCh38: 17:8007997-8007997
21 PROM1 NM_006017.3(PROM1):c.1877_1878del (p.Ile626fs) Deletion Pathogenic 694037 rs1300041533 GRCh37: 4:15993904-15993905
GRCh38: 4:15992281-15992282
22 PROM1 NM_006017.3(PROM1):c.139del (p.His47fs) Deletion Pathogenic 694038 rs747512450 GRCh37: 4:16077391-16077391
GRCh38: 4:16075768-16075768
23 TULP1 NM_003322.6(TULP1):c.1560C>A (p.Tyr520Ter) SNV Pathogenic 802207 rs773968778 GRCh37: 6:35466173-35466173
GRCh38: 6:35498396-35498396
24 TULP1 NM_003322.6(TULP1):c.1388del (p.Asn463fs) Deletion Pathogenic 802208 rs1581736024 GRCh37: 6:35467865-35467865
GRCh38: 6:35500088-35500088
25 LCA5 NM_001122769.3(LCA5):c.955G>A (p.Ala319Thr) SNV Pathogenic 802243 rs1178243254 GRCh37: 6:80202268-80202268
GRCh38: 6:79492551-79492551
26 RPGRIP1 NM_020366.3(RPGRIP1):c.800+1G>A SNV Pathogenic 803002 rs376500610 GRCh37: 14:21771703-21771703
GRCh38: 14:21303544-21303544
27 RPGRIP1 NM_020366.3(RPGRIP1):c.2759_2760insT (p.Gln920fs) Insertion Pathogenic 803005 rs61751270 GRCh37: 14:21795830-21795831
GRCh38: 14:21327671-21327672
28 RPGRIP1 NM_020366.3(RPGRIP1):c.2941C>T (p.Arg981Ter) SNV Pathogenic 438163 rs780667159 GRCh37: 14:21796628-21796628
GRCh38: 14:21328469-21328469
29 GUCY2D NM_000180.4(GUCY2D):c.1343C>A (p.Ser448Ter) SNV Pathogenic 98540 rs61749679 GRCh37: 17:7909997-7909997
GRCh38: 17:8006679-8006679
30 CRX NM_000554.6(CRX):c.500_501del (p.Ala166_Ser167insTer) Deletion Pathogenic 803571 rs1599991611 GRCh37: 19:48342824-48342825
GRCh38: 19:47839567-47839568
31 GUCY2D NM_000180.4(GUCY2D):c.1978C>T (p.Arg660Ter) SNV Pathogenic 98554 rs61750161 GRCh37: 17:7915789-7915789
GRCh38: 17:8012471-8012471
32 GUCY2D NM_000180.4(GUCY2D):c.2988C>G (p.Tyr996Ter) SNV Pathogenic 851765 GRCh37: 17:7919104-7919104
GRCh38: 17:8015786-8015786
33 GUCY2D NM_000180.4(GUCY2D):c.1573C>T (p.Gln525Ter) SNV Pathogenic 861650 GRCh37: 17:7911255-7911255
GRCh38: 17:8007937-8007937
34 GUCY2D NM_000180.4(GUCY2D):c.2595del (p.Lys866fs) Deletion Pathogenic 861651 GRCh37: 17:7918195-7918195
GRCh38: 17:8014877-8014877
35 GUCY2D NM_000180.4(GUCY2D):c.3065T>A (p.Leu1022Ter) SNV Pathogenic 864510 GRCh37: 17:7919266-7919266
GRCh38: 17:8015948-8015948
36 CRB1 NM_201253.3(CRB1):c.3460_3461TG[1] (p.Cys1154_Glu1155delinsTer) Microsatellite Pathogenic 801600 rs1571557864 GRCh37: 1:197404453-197404454
GRCh38: 1:197435323-197435324
37 CRB1 NM_201253.3(CRB1):c.2842T>C (p.Cys948Arg) SNV Pathogenic 427863 rs62645747 GRCh37: 1:197398744-197398744
GRCh38: 1:197429614-197429614
38 CRB1 NM_201253.3(CRB1):c.2533_2539del (p.Gly845fs) Deletion Pathogenic 801599 rs745348555 GRCh37: 1:197396986-197396992
GRCh38: 1:197427856-197427862
39 CRB1 NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr) SNV Pathogenic 372352 rs116471343 GRCh37: 1:197396961-197396961
GRCh38: 1:197427831-197427831
40 CRB1 NM_201253.3(CRB1):c.1455_1458dup (p.Ser487fs) Duplication Pathogenic 801596 rs1571523319 GRCh37: 1:197390412-197390413
GRCh38: 1:197421282-197421283
41 CRB1 NM_201253.3(CRB1):c.984G>A (p.Trp328Ter) SNV Pathogenic 801594 rs1571878277 GRCh37: 1:197316605-197316605
GRCh38: 1:197347475-197347475
42 CRB1 NM_201253.3(CRB1):c.613_619del (p.Ile205fs) Deletion Pathogenic 99913 rs62645752 GRCh37: 1:197298091-197298097
GRCh38: 1:197328961-197328967
43 CRB1 NM_201253.3(CRB1):c.281_282del (p.Phe94fs) Deletion Pathogenic 801590 rs1571848166 GRCh37: 1:197297761-197297762
GRCh38: 1:197328631-197328632
44 GUCY2D NM_000180.4(GUCY2D):c.2516del (p.Thr839fs) Deletion Pathogenic 938393 GRCh37: 17:7918022-7918022
GRCh38: 17:8014704-8014704
45 GUCY2D NM_000180.4(GUCY2D):c.2395_2398dup (p.His800fs) Duplication Pathogenic 939554 GRCh37: 17:7917328-7917329
GRCh38: 17:8014010-8014011
46 GUCY2D NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His) SNV Pathogenic 9357 rs61750173 GRCh37: 17:7918019-7918019
GRCh38: 17:8014701-8014701
47 GUCY2D NM_000180.4(GUCY2D):c.926_939del (p.Leu309fs) Deletion Pathogenic 957347 GRCh37: 17:7907372-7907385
GRCh38: 17:8004054-8004067
48 GUCY2D NM_000180.4(GUCY2D):c.65G>A (p.Trp22Ter) SNV Pathogenic 961067 GRCh37: 17:7906430-7906430
GRCh38: 17:8003112-8003112
49 GUCY2D NM_000180.4(GUCY2D):c.1582C>T (p.Arg528Ter) SNV Pathogenic 961926 GRCh37: 17:7911264-7911264
GRCh38: 17:8007946-8007946
50 GUCY2D NM_000180.4(GUCY2D):c.2T>A (p.Met1Lys) SNV Pathogenic 98585 rs281865408 GRCh37: 17:7906367-7906367
GRCh38: 17:8003049-8003049

UniProtKB/Swiss-Prot genetic disease variations for Leber Congenital Amaurosis 1:

72 (show all 21)
# Symbol AA change Variation ID SNP ID
1 GUCY2D p.Ala362Ser VAR_009129 rs61749677
2 GUCY2D p.Ile573Val VAR_009130 rs61749756
3 GUCY2D p.Phe565Ser VAR_009131 rs61749755
4 GUCY2D p.Pro858Ser VAR_009134 rs61750176
5 GUCY2D p.Leu954Pro VAR_009135 rs61750182
6 GUCY2D p.Cys105Tyr VAR_023770 rs61749669
7 GUCY2D p.Leu325Pro VAR_023771 rs61749675
8 GUCY2D p.Thr55Met VAR_067169 rs201414567
9 GUCY2D p.Glu103Val VAR_067170
10 GUCY2D p.Thr312Met VAR_067171 rs61749673
11 GUCY2D p.Arg438Cys VAR_067174 rs565948960
12 GUCY2D p.Trp640Leu VAR_067175
13 GUCY2D p.Arg660Gln VAR_067176 rs61750162
14 GUCY2D p.Asp728His VAR_067177
15 GUCY2D p.Ile734Ala VAR_067178
16 GUCY2D p.Arg768Trp VAR_067179 rs61750168
17 GUCY2D p.Met784Arg VAR_067180 rs375010731
18 GUCY2D p.Arg795Gln VAR_067181 rs61750171
19 GUCY2D p.Ser1007Leu VAR_067182
20 GUCY2D p.Ala710Val VAR_082624 rs781725943
21 GUCY2D p.Val902Leu VAR_082628

Expression for Leber Congenital Amaurosis 1

Search GEO for disease gene expression data for Leber Congenital Amaurosis 1.

Pathways for Leber Congenital Amaurosis 1

GO Terms for Leber Congenital Amaurosis 1

Cellular components related to Leber Congenital Amaurosis 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 10 TULP1 SPATA7 RPGRIP1 RP1 RD3 PROM1
2 cilium GO:0005929 9.85 TULP1 RPGRIP1 RP1 PROM1 LCA5 CEP290
3 photoreceptor connecting cilium GO:0032391 9.72 SPATA7 RPGRIP1 RP1 LCA5 CEP290
4 axoneme GO:0005930 9.71 SPATA7 RPGRIP1 RP1 LCA5
5 photoreceptor disc membrane GO:0097381 9.65 GUCY2F GUCY2D GUCA1B GUCA1A GRK1
6 photoreceptor inner segment GO:0001917 9.56 TULP1 RP1 RDH12 RD3 GUCA1B GUCA1A
7 photoreceptor outer segment membrane GO:0042622 9.43 PROM1 GUCY2D
8 photoreceptor outer segment GO:0001750 9.32 TULP1 SPATA7 RP1 RD3 PROM1 GUCY2D

Biological processes related to Leber Congenital Amaurosis 1 according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.83 TULP1 SPATA7 RPGRIP1 RPE65 RP1 RDH12
2 retina development in camera-type eye GO:0060041 9.8 TULP1 RPGRIP1 RPE65 RP1 RD3 CRB1
3 detection of light stimulus involved in visual perception GO:0050908 9.73 TULP1 RPE65 GUCY2F CRB1
4 regulation of rhodopsin mediated signaling pathway GO:0022400 9.73 GUCY2F GUCY2D GUCA1B GUCA1A GRK1 AIPL1
5 retinoid metabolic process GO:0001523 9.71 RPE65 RDH12 LRAT
6 eye photoreceptor cell development GO:0042462 9.71 TULP1 RPGRIP1 CRB1 CEP290
7 photoreceptor cell maintenance GO:0045494 9.7 TULP1 SPATA7 RP1 RDH12 PROM1 LCA5
8 retinol metabolic process GO:0042572 9.67 RPE65 RDH12 LRAT
9 retina morphogenesis in camera-type eye GO:0060042 9.67 RPE65 RP1 PROM1 CRB1
10 retina homeostasis GO:0001895 9.65 TULP1 RPE65 AIPL1
11 receptor guanylyl cyclase signaling pathway GO:0007168 9.63 GUCY2F GUCY2D GUCA1B
12 retina layer formation GO:0010842 9.61 PROM1 CRB1
13 cyclic nucleotide biosynthetic process GO:0009190 9.6 GUCY2F GUCY2D
14 cellular response to light stimulus GO:0071482 9.59 RP1 CRB1
15 photoreceptor cell outer segment organization GO:0035845 9.58 RP1 CRB1
16 cGMP biosynthetic process GO:0006182 9.58 GUCY2F GUCY2D
17 retinal rod cell development GO:0046548 9.57 RPGRIP1 RP1
18 positive regulation of guanylate cyclase activity GO:0031284 9.56 GUCA1B GUCA1A
19 phototransduction, visible light GO:0007603 9.55 RP1 AIPL1
20 visual perception GO:0007601 9.53 TULP1 SPATA7 RPGRIP1 RPE65 RP1 RDH12
21 vitamin A metabolic process GO:0006776 9.52 RPE65 LRAT
22 protein localization to photoreceptor outer segment GO:1903546 9.51 TULP1 SPATA7

Molecular functions related to Leber Congenital Amaurosis 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphorus-oxygen lyase activity GO:0016849 9.26 GUCY2F GUCY2D
2 guanylate cyclase activity GO:0004383 9.16 GUCY2F GUCY2D
3 calcium sensitive guanylate cyclase activator activity GO:0008048 8.96 GUCA1B GUCA1A
4 peptide receptor activity GO:0001653 8.62 GUCY2F GUCY2D

Sources for Leber Congenital Amaurosis 1

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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