LCA1
MCID: LBR004
MIFTS: 56

Leber Congenital Amaurosis 1 (LCA1)

Categories: Eye diseases, Genetic diseases, Neuronal diseases
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Aliases & Classifications for Leber Congenital Amaurosis 1

MalaCards integrated aliases for Leber Congenital Amaurosis 1:

Name: Leber Congenital Amaurosis 1 57 11 73 28 12 5 14
Lca1 57 11 73
Amaurosis Congenita of Leber I 57 11
Amaurosis Congenita of Leber, Type 1 71
Leber Congenital Amaurosis, Type 1 38
Leber Congenital Amaurosis Type I 73
Retinal Blindness, Congenital 57
Lca 57
Crb 57

Characteristics:


Inheritance:

Autosomal recessive 57

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 08-Dec-2022)

MalaCards based summary: Leber Congenital Amaurosis 1, also known as lca1, is related to senior-loken syndrome 1 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 Visual phototransduction and Ciliopathies. The drugs Prednisolone phosphate and Prednisolone acetate have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and bone marrow, and related phenotypes are nystagmus and blindness

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 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.

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 175)
# Related Disease Score Top Affiliating Genes
1 senior-loken syndrome 1 32.0 TULP1 RPGRIP1 LCA5 GUCY2D CRX CRB1
2 leber congenital amaurosis 14 31.9 TULP1 LRAT LCA5
3 leber congenital amaurosis 7 31.8 LCA5 GUCY2D CRX CRB1
4 leber congenital amaurosis 15 31.8 TULP1 RD3 LCA5 GUCY2D
5 leber congenital amaurosis 11 31.8 TULP1 LCA5 GUCY2D CRB1
6 leber congenital amaurosis 2 31.8 TULP1 RD3 LRAT LCA5 GUCY2D CRX
7 leber congenital amaurosis 8 31.7 TULP1 LRAT LCA5 GUCY2D CRX CRB1
8 leber congenital amaurosis 9 31.6 TULP1 LRAT LCA5 GUCY2D CRX CRB1
9 leber congenital amaurosis 6 31.5 TULP1 RPGRIP1 LRAT LCA5 GUCY2D CRX
10 leber congenital amaurosis 4 31.4 TULP1 RPGRIP1 RD3 LRAT LCA5 GUCY2D
11 leber congenital amaurosis 3 31.4 TULP1 RPGRIP1 RD3 LRAT LCA5 GUCY2D
12 leber congenital amaurosis 10 31.4 TULP1 RPGRIP1 RD3 LCA5 GUCY2D GRK1
13 leber plus disease 31.3 TULP1 RPGRIP1 RD3 PROM1 LRAT LCA5
14 progressive cone dystrophy 30.6 GUCY2D GUCA1A
15 retinal disease 30.5 GUCY2D GUCA1A CRX CRB1
16 retinitis 30.4 TULP1 RPGRIP1 CRB1
17 cone-rod dystrophy 6 30.3 RPGRIP1 RD3 GUCY2F GUCY2D GUCA1A ARR3
18 leber congenital amaurosis 13 30.1 TULP1 RPGRIP1 LRAT LCA5
19 coloboma of macula 30.0 LCA5 GUCY2D CRX CRB1
20 retinal degeneration 30.0 TULP1 RPGRIP1 RD3 PROM1 LRAT GUCY2D
21 vitelliform macular dystrophy 29.9 GUCY2D GUCA1A GRK1 CRX CRB1
22 night blindness 29.9 TULP1 LRAT GUCY2D GRK1 CRX CRB1
23 fundus dystrophy 29.6 TULP1 RPGRIP1 RD3 PROM1 LRAT LCA5
24 joubert syndrome 1 29.6 TULP1 RPGRIP1 RD3 LRAT LCA5 GUCY2D
25 cone-rod dystrophy 2 29.4 TULP1 RPGRIP1 RD3 PROM1 LRAT LCA5
26 retinitis pigmentosa 29.4 TULP1 RPGRIP1 RD3 PROM1 LRAT LCA5
27 congenital stationary night blindness 29.4 TULP1 RD3 LRAT LCA5 GUCY2D GUCA1A
28 cone dystrophy 29.3 TULP1 RPGRIP1 LRAT LCA5 GUCY2F GUCY2D
29 anomalous left coronary artery from the pulmonary artery 11.3
30 littoral cell angioma of the spleen 11.3
31 leber congenital amaurosis / early-onset severe retinal dystrophy 11.0
32 rpe65-related leber congenital amaurosis / early-onset severe retinal dystrophy 11.0
33 congenital muscular dystrophy with cerebellar involvement 11.0
34 nystagmus 1, congenital, x-linked 10.9
35 senior-loken syndrome 5 10.9
36 leber congenital amaurosis 19 10.9
37 pneumonia 10.6
38 pseudoretinitis pigmentosa 10.4 TULP1 CRB1
39 intellectual developmental disorder, autosomal dominant 3 10.3 RD3 GUCY2D
40 severe early-childhood-onset retinal dystrophy 10.3 LRAT LCA5
41 simpson-golabi-behmel syndrome, type 2 10.3 RPGRIP1 LCA5
42 pigmented paravenous chorioretinal atrophy 10.3 GUCY2D CRB1
43 isolated macular dystrophy 10.3 PROM1 GUCA1A
44 retinal cone dystrophy 1 10.3 GUCY2D GUCA1A CRX
45 partial central choroid dystrophy 10.3 GUCY2D GUCA1A CRX
46 hereditary choroidal atrophy 10.3 GUCY2D GUCA1A CRX
47 hereditary retinal dystrophy 10.3 GUCY2D CRB1
48 degeneration of macula and posterior pole 10.3 LRAT CRX CRB1
49 cone-rod dystrophy 3 10.3 GUCY2D GUCA1A CRX
50 occult macular dystrophy 10.3 GUCY2D GUCA1A CRX

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:

30 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 30 Very rare (1%) HP:0000639
2 blindness 30 Very rare (1%) HP:0000618
3 photophobia 30 Very rare (1%) HP:0000613
4 nyctalopia 30 Very rare (1%) HP:0000662
5 keratoconus 30 Very rare (1%) HP:0000563
6 attenuation of retinal blood vessels 30 Very rare (1%) HP:0007843
7 optic disc drusen 30 Very rare (1%) HP:0012426
8 eye poking 30 Very rare (1%) HP:0001483
9 intellectual disability 30 HP:0001249
10 cataract 30 HP:0000518
11 hepatomegaly 30 HP:0002240
12 sensorineural hearing impairment 30 HP:0000407
13 growth delay 30 HP:0001510
14 pigmentary retinopathy 30 HP:0000580
15 fundus atrophy 30 HP:0001099
16 hyperthreoninemia 30 HP:0003354
17 decreased light- and dark-adapted electroretinogram amplitude 30 HP:0000654
18 hyperthreoninuria 30 HP:0003296

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

UMLS symptoms related to Leber Congenital Amaurosis 1:


photophobia

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with vaccinia virus (VACV) infection GR00362-A 8.8 ARMC6 GRK1 RBBP6

MGI Mouse Phenotypes related to Leber Congenital Amaurosis 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.77 CRB1 CRX GRK1 GUCA1A GUCY2D GUCY2F
2 pigmentation MP:0001186 9.55 CRB1 CRX LCA5 PROM1 TULP1
3 vision/eye MP:0005391 9.47 ARR3 CRB1 CRX GRK1 GUCA1A GUCY2D

Drugs & Therapeutics for Leber Congenital Amaurosis 1

Drugs for Leber Congenital Amaurosis 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 29)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisolone phosphate Approved, Vet_approved Phase 1, Phase 2 302-25-0
2
Prednisolone acetate Approved, Vet_approved Phase 1, Phase 2 52-21-1
3
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 4894 5755
4
Polymyxin B Approved, Vet_approved Phase 1, Phase 2 1405-20-5, 1404-26-8 4868
5
Prednisone Approved, Vet_approved Phase 1, Phase 2 53-03-2 5865
6
Methylprednisolone hemisuccinate Approved Phase 1, Phase 2 2921-57-5 1875
7
Levoleucovorin Approved, Experimental, Investigational Phase 1, Phase 2 68538-85-2, 58-05-9, 73951-54-9 149436 6006
8
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 4159 6741
9
Trimethoprim Approved, Vet_approved Phase 1, Phase 2 738-70-5 5578
10
Folic acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 59-30-3 6037
11
Prednisolone hemisuccinate Experimental Phase 1, Phase 2 2920-86-7 4897
12 Folic Acid Antagonists Phase 1, Phase 2
13 Folate Phase 1, Phase 2
14 Anti-Bacterial Agents Phase 1, Phase 2
15 Antineoplastic Agents, Hormonal Phase 1, Phase 2
16 Vitamin B9 Phase 1, Phase 2
17 Anti-Infective Agents Phase 1, Phase 2
18 Antiprotozoal Agents Phase 1, Phase 2
19 Hormones Phase 1, Phase 2
20 Antiparasitic Agents Phase 1, Phase 2
21 Vitamin B Complex Phase 1, Phase 2
22 Hormone Antagonists Phase 1, Phase 2
23 Antimalarials Phase 1, Phase 2
24 Polymyxins Phase 1, Phase 2
25 Pharmaceutical Solutions Phase 1, Phase 2
26 glucocorticoids Phase 1, Phase 2
27 Anti-Inflammatory Agents Phase 1, Phase 2
28
Methylprednisolone Acetate Phase 1, Phase 2 584547
29 Cytochrome P-450 Enzyme Inhibitors Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase 1/2 Dose Escalation Study of Subretinally Injected SAR439483 Administered in Patients With Leber Congenital Amaurosis Caused by Biallelic Mutations in GUCY2D Active, not recruiting NCT03920007 Phase 1, Phase 2 SAR439483;SAR439483 Diluent Solution;Prednisone;Triamcinalone Acetonide;1% Prednisolone;Trimethoprim/polymyxin B

Search 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 28 GUCY2D

Anatomical Context for Leber Congenital Amaurosis 1

Organs/tissues related to Leber Congenital Amaurosis 1:

MalaCards : Retina, Eye, Bone Marrow, Lung, Bone, Pineal

Publications for Leber Congenital Amaurosis 1

Articles related to Leber Congenital Amaurosis 1:

(show top 50) (show all 131)
# 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. 62 57 5
23035049 2013
2
Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis. 62 57 5
8944027 1996
3
Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis. 57 5
16505055 2006
4
Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles. 57 5
16123401 2005
5
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. 57 5
15024725 2004
6
Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin. 57 5
12325031 2002
7
Impaired association of retinal degeneration-3 with guanylate cyclase-1 and guanylate cyclase-activating protein-1 leads to leber congenital amaurosis-1. 62 5
25477517 2015
8
Complete abolition of the retinal-specific guanylyl cyclase (retGC-1) catalytic ability consistently leads to leber congenital amaurosis (LCA). 62 5
11328726 2001
9
Spectrum of retGC1 mutations in Leber's congenital amaurosis. 62 5
10951519 2000
10
Leber congenital amaurosis. 62 57
10527670 1999
11
Functional consequences of a rod outer segment membrane guanylate cyclase (ROS-GC1) gene mutation linked with Leber's congenital amaurosis. 62 5
9888789 1999
12
Evidence of genetic heterogeneity of Leber's congenital amaurosis (LCA) and mapping of LCA1 to chromosome 17p13. 62 57
8641699 1996
13
A gene for Leber's congenital amaurosis maps to chromosome 17p. 62 57
7581387 1995
14
Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders. 5
34008892 2021
15
Novel variants in GUCY2D causing retinopathy and the genotype-phenotype correlation. 5
34048777 2021
16
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases. 5
33546218 2021
17
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy. 5
31630094 2020
18
GUCY2D-Associated Leber Congenital Amaurosis: A Retrospective Natural History Study in Preparation for Trials of Novel Therapies. 5
31704230 2020
19
Copy number variations and multiallelic variants in Korean patients with Leber congenital amaurosis. 5
32165824 2020
20
Expanded Retinal Disease Spectrum Associated With Autosomal Recessive Mutations in GUCY2D. 5
29559409 2018
21
Genotype-functional-phenotype correlations in photoreceptor guanylate cyclase (GC-E) encoded by GUCY2D. 5
29061346 2018
22
GUCY2D Cone-Rod Dystrophy-6 Is a "Phototransduction Disease" Triggered by Abnormal Calcium Feedback on Retinal Membrane Guanylyl Cyclase 1. 5
29440533 2018
23
Photoreceptor Guanylate Cyclase (GUCY2D) Mutations Cause Retinal Dystrophies by Severe Malfunction of Ca2+-Dependent Cyclic GMP Synthesis. 5
30319355 2018
24
The genetic profile of Leber congenital amaurosis in an Australian cohort. 5
29178642 2017
25
Antioxidant effect of aqueous extract of four plants with therapeutic potential on gynecological diseases; Semen persicae, Leonurus cardiaca, Hedyotis diffusa, and Curcuma zedoaria. 5
29178942 2017
26
Diagnostic application of clinical exome sequencing in Leber congenital amaurosis. 5
28966547 2017
27
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. 5
28041643 2017
28
Clinical and genetic characteristics of Leber congenital amaurosis with novel mutations in known genes based on a Chinese eastern coast Han population. 5
27422788 2016
29
The R838S Mutation in Retinal Guanylyl Cyclase 1 (RetGC1) Alters Calcium Sensitivity of cGMP Synthesis in the Retina and Causes Blindness in Transgenic Mice. 5
27703005 2016
30
Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark. 5
26626312 2016
31
Novel Mutations in Two Saudi Patients with Congenital Retinal Dystrophy. 5
26957854 2016
32
GUCY2D mutations in a Chinese cohort with autosomal dominant cone or cone-rod dystrophies. 5
26298565 2015
33
Outcome measure for the treatment of cone photoreceptor diseases: orientation to a scene with cone-only contrast. 5
26253563 2015
34
Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort. 5
26047050 2015
35
Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay. 57
24997176 2014
36
GUCY2D- or GUCA1A-related autosomal dominant cone-rod dystrophy: is there a phenotypic difference? 5
24875811 2014
37
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. 5
23847139 2013
38
IROme, a new high-throughput molecular tool for the diagnosis of inherited retinal dystrophies. 5
23484092 2013
39
A novel GUCY2D mutation in a Chinese family with dominant cone dystrophy. 5
23734073 2013
40
Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis. 57
21153841 2011
41
Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis. 5
21602930 2011
42
Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes. 5
20683928 2010
43
Activation of retinal guanylyl cyclase RetGC1 by GCAP1: stoichiometry of binding and effect of new LCA-related mutations. 5
20050595 2010
44
Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions. 57
20006823 2009
45
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. 57
19430481 2009
46
Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture. 5
17964524 2007
47
An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy. 5
18055820 2007
48
Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. 5
17724218 2007
49
Evaluation of genotype-phenotype associations in leber congenital amaurosis. 5
16205573 2005
50
Splicing in action: assessing disease causing sequence changes. 5
16199547 2005

Variations for Leber Congenital Amaurosis 1

ClinVar genetic disease variations for Leber Congenital Amaurosis 1:

5 (show top 50) (show all 741)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GUCY2D NM_000180.4(GUCY2D):c.2377del (p.Glu793fs) DEL Pathogenic
471236 rs1555635668 GRCh37: 17:7917310-7917310
GRCh38: 17:8013992-8013992
2 GUCY2D NM_000180.4(GUCY2D):c.2114-27_2263+18del DEL Pathogenic
430835 rs1555635550 GRCh37: 17:7916391-7916585
GRCh38: 17:8013073-8013267
3 TULP1 NM_003322.6(TULP1):c.524dup (p.Pro176fs) DUP Pathogenic
547179 rs1327062642 GRCh37: 6:35477680-35477681
GRCh38: 6:35509903-35509904
4 GUCY2D NC_000017.11:g.(?_8002902)_(8016550_?)del DEL Pathogenic
584235 GRCh37: 17:7906220-7919868
GRCh38: 17:8002902-8016550
5 GUCY2D NM_000180.4(GUCY2D):c.3233_3236dup (p.His1079fs) DUP Pathogenic
65572 rs386834239 GRCh37: 17:7919766-7919767
GRCh38: 17:8016448-8016449
6 GUCY2D NM_000180.4(GUCY2D):c.1633C>T (p.Gln545Ter) SNV Pathogenic
689384 rs1290420698 GRCh37: 17:7911315-7911315
GRCh38: 17:8007997-8007997
7 CRB1 NM_201253.3(CRB1):c.281_282del (p.Phe94fs) DEL Pathogenic
801590 rs1571848166 GRCh37: 1:197297761-197297762
GRCh38: 1:197328631-197328632
8 CRB1 NM_201253.3(CRB1):c.984G>A (p.Trp328Ter) SNV Pathogenic
801594 rs1571878277 GRCh37: 1:197316605-197316605
GRCh38: 1:197347475-197347475
9 CRB1 NM_201253.3(CRB1):c.3462_3463del (p.Cys1154_Glu1155delinsTer) MICROSAT Pathogenic
801600 rs1571557864 GRCh37: 1:197404453-197404454
GRCh38: 1:197435323-197435324
10 TULP1 NM_003322.6(TULP1):c.1560C>A (p.Tyr520Ter) SNV Pathogenic
802207 rs773968778 GRCh37: 6:35466173-35466173
GRCh38: 6:35498396-35498396
11 TULP1 NM_003322.6(TULP1):c.1388del (p.Asn463fs) DEL Pathogenic
802208 rs1581736024 GRCh37: 6:35467865-35467865
GRCh38: 6:35500088-35500088
12 LCA5 NM_001122769.3(LCA5):c.955G>A (p.Ala319Thr) SNV Pathogenic
802243 rs1178243254 GRCh37: 6:80202268-80202268
GRCh38: 6:79492551-79492551
13 CRB1 NM_201253.3(CRB1):c.1455_1458dup (p.Ser487fs) DUP Pathogenic
801596 rs1571523319 GRCh37: 1:197390412-197390413
GRCh38: 1:197421282-197421283
14 GUCY2D NM_000180.4(GUCY2D):c.622del (p.Arg208fs) DEL Pathogenic
98607 rs61749671 GRCh37: 17:7906985-7906985
GRCh38: 17:8003667-8003667
15 GUCY2D NM_000180.4(GUCY2D):c.1694T>C (p.Phe565Ser) SNV Pathogenic
9350 rs61749755 GRCh37: 17:7912849-7912849
GRCh38: 17:8009531-8009531
16 GUCY2D NM_000180.4(GUCY2D):c.2T>A (p.Met1Lys) SNV Pathogenic
98585 rs281865408 GRCh37: 17:7906367-7906367
GRCh38: 17:8003049-8003049
17 GUCY2D NM_000180.4(GUCY2D):c.3G>A (p.Met1Ile) SNV Pathogenic
98603 rs281865409 GRCh37: 17:7906368-7906368
GRCh38: 17:8003050-8003050
18 GUCY2D NM_000180.4(GUCY2D):c.2770-1G>C SNV Pathogenic
974629 rs1975943461 GRCh37: 17:7918645-7918645
GRCh38: 17:8015327-8015327
19 GUCY2D NM_000180.4(GUCY2D):c.176_177insCCGGGGT (p.Gly60fs) INSERT Pathogenic
974631 rs1975665345 GRCh37: 17:7906540-7906541
GRCh38: 17:8003222-8003223
20 GUCY2D NM_000180.4(GUCY2D):c.226_239del (p.Ala76fs) DEL Pathogenic
98562 rs281865410 GRCh37: 17:7906591-7906604
GRCh38: 17:8003273-8003286
21 GUCY2D NM_000180.4(GUCY2D):c.501del (p.Ala168fs) DEL Pathogenic
974632 rs1975675766 GRCh37: 17:7906862-7906862
GRCh38: 17:8003544-8003544
22 GUCY2D NM_000180.4(GUCY2D):c.997G>T (p.Glu333Ter) SNV Pathogenic
974635 rs755999834 GRCh37: 17:7907445-7907445
GRCh38: 17:8004127-8004127
23 GUCY2D NM_000180.4(GUCY2D):c.2177_2206del (p.Ala726_Met736delinsVal) DEL Pathogenic
974640 rs1975890613 GRCh37: 17:7916484-7916513
GRCh38: 17:8013166-8013195
24 GUCY2D NM_000180.4(GUCY2D):c.1806_1830del (p.Ala604fs) DEL Pathogenic
98549 rs63749078 GRCh37: 17:7915518-7915542
GRCh38: 17:8012200-8012224
25 GUCY2D NM_000180.4(GUCY2D):c.2521G>T (p.Glu841Ter) SNV Pathogenic
974643 rs1341592819 GRCh37: 17:7918027-7918027
GRCh38: 17:8014709-8014709
26 GUCY2D NM_000180.4(GUCY2D):c.2770-2A>G SNV Pathogenic
974647 rs1975943416 GRCh37: 17:7918644-7918644
GRCh38: 17:8015326-8015326
27 GUCY2D NM_000180.4(GUCY2D):c.2997del (p.Phe999fs) DEL Pathogenic
974653 rs1975957618 GRCh37: 17:7919111-7919111
GRCh38: 17:8015793-8015793
28 GUCY2D NM_000180.4(GUCY2D):c.2577-2A>C SNV Pathogenic
974645 rs1975931968 GRCh37: 17:7918175-7918175
GRCh38: 17:8014857-8014857
29 GUCY2D NM_000180.4(GUCY2D):c.3078_3079del (p.Ile1027fs) DEL Pathogenic
98589 rs281865411 GRCh37: 17:7919279-7919280
GRCh38: 17:8015961-8015962
30 GUCY2D NM_000180.4(GUCY2D):c.3118C>T (p.Arg1040Ter) SNV Pathogenic
98594 rs61750194 GRCh37: 17:7919319-7919319
GRCh38: 17:8016001-8016001
31 GUCY2D NM_000180.4(GUCY2D):c.1566+2T>C SNV Pathogenic
98544 rs61749683 GRCh37: 17:7910848-7910848
GRCh38: 17:8007530-8007530
32 GUCY2D NM_000180.4(GUCY2D):c.1957-1G>T SNV Pathogenic
98552 rs61749759 GRCh37: 17:7915767-7915767
GRCh38: 17:8012449-8012449
33 GUCY2D NM_000180.4(GUCY2D):c.543G>A (p.Trp181Ter) SNV Pathogenic
974658 rs1403798841 GRCh37: 17:7906908-7906908
GRCh38: 17:8003590-8003590
34 GUCY2D NM_000180.4(GUCY2D):c.1530del (p.Thr511fs) DEL Pathogenic
974659 rs1975768901 GRCh37: 17:7910810-7910810
GRCh38: 17:8007492-8007492
35 GUCY2D NM_000180.4(GUCY2D):c.2413-1G>C SNV Pathogenic
974660 rs1975923246 GRCh37: 17:7917918-7917918
GRCh38: 17:8014600-8014600
36 GUCY2D NM_000180.4(GUCY2D):c.2263+2T>C SNV Pathogenic
974661 rs1975893449 GRCh37: 17:7916572-7916572
GRCh38: 17:8013254-8013254
37 GUCY2D NM_000180.4(GUCY2D):c.562_565dup (p.Ala189fs) DUP Pathogenic
974663 rs1975678842 GRCh37: 17:7906926-7906927
GRCh38: 17:8003608-8003609
38 GUCY2D NM_000180.4(GUCY2D):c.91dup (p.Arg31fs) DUP Pathogenic
98609 rs61749663 GRCh37: 17:7906451-7906452
GRCh38: 17:8003133-8003134
39 GUCY2D NM_000180.4(GUCY2D):c.1378+1G>A SNV Pathogenic
974668 rs1975751307 GRCh37: 17:7910033-7910033
GRCh38: 17:8006715-8006715
40 GUCY2D NM_000180.4(GUCY2D):c.2899del (p.His967fs) DEL Pathogenic
Pathogenic
98579 rs61750183 GRCh37: 17:7918774-7918774
GRCh38: 17:8015456-8015456
41 GUCY2D NM_000180.4(GUCY2D):c.3219dup (p.Pro1074fs) DUP Pathogenic
974672 rs1374426388 GRCh37: 17:7919601-7919602
GRCh38: 17:8016283-8016284
42 GUCY2D NM_000180.4(GUCY2D):c.3105C>G (p.Tyr1035Ter) SNV Pathogenic
1075556 GRCh37: 17:7919306-7919306
GRCh38: 17:8015988-8015988
43 GUCY2D NM_000180.4(GUCY2D):c.1773del (p.Asn591fs) DEL Pathogenic
Pathogenic
198995 rs794727952 GRCh37: 17:7915485-7915485
GRCh38: 17:8012167-8012167
44 GUCY2D NM_000180.4(GUCY2D):c.690_693del (p.Lys232fs) DEL Pathogenic
Pathogenic
1213844 GRCh37: 17:7907055-7907058
GRCh38: 17:8003737-8003740
45 GUCY2D NM_000180.4(GUCY2D):c.571C>T (p.Gln191Ter) SNV Pathogenic
596884 rs768390959 GRCh37: 17:7906936-7906936
GRCh38: 17:8003618-8003618
46 GUCY2D NM_000180.4(GUCY2D):c.3037G>A (p.Gly1013Arg) SNV Pathogenic
Likely Pathogenic
974654 rs868612148 GRCh37: 17:7919153-7919153
GRCh38: 17:8015835-8015835
47 GUCY2D NM_000180.4(GUCY2D):c.1245del (p.Phe415fs) DEL Pathogenic
803313 rs1598146173 GRCh37: 17:7909895-7909895
GRCh38: 17:8006577-8006577
48 GUCY2D NM_000180.4(GUCY2D):c.2260G>T (p.Glu754Ter) SNV Pathogenic
1366687 GRCh37: 17:7916567-7916567
GRCh38: 17:8013249-8013249
49 GUCY2D NM_000180.4(GUCY2D):c.2871del (p.Ser958fs) DEL Pathogenic
1413732 GRCh37: 17:7918747-7918747
GRCh38: 17:8015429-8015429
50 GUCY2D NM_000180.4(GUCY2D):c.2209C>T (p.Gln737Ter) SNV Pathogenic
1456503 GRCh37: 17:7916516-7916516
GRCh38: 17:8013198-8013198

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

73 (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 rs1598150793

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 photoreceptor disc membrane GO:0097381 9.86 GUCY2F GUCY2D GUCA1A GRK1
2 photoreceptor inner segment GO:0001917 9.85 ARR3 CRB1 GUCA1A RD3 TULP1
3 cell projection GO:0042995 9.73 TULP1 RPGRIP1 RD3 PROM1 LCA5 GUCY2F
4 photoreceptor outer segment membrane GO:0042622 9.71 PROM1 GUCY2D
5 cone photoreceptor outer segment GO:0120199 9.67 RD3 GUCA1A
6 rod photoreceptor outer segment GO:0120200 9.62 RD3 GUCY2F
7 photoreceptor outer segment GO:0001750 9.47 TULP1 RD3 PROM1 GUCY2D GUCA1A GRK1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 detection of light stimulus involved in visual perception GO:0050908 9.88 TULP1 GUCY2F CRB1
2 retina development in camera-type eye GO:0060041 9.8 TULP1 RPGRIP1 RD3 CRB1
3 cGMP biosynthetic process GO:0006182 9.78 GUCY2F GUCY2D
4 eye photoreceptor cell development GO:0042462 9.77 TULP1 RPGRIP1 CRB1
5 response to stimulus GO:0050896 9.77 TULP1 RPGRIP1 RD3 LRAT GUCY2F GUCY2D
6 receptor guanylyl cyclase signaling pathway GO:0007168 9.76 GUCY2F GUCY2D
7 photoreceptor cell maintenance GO:0045494 9.76 CRB1 LCA5 PROM1 TULP1
8 regulation of rhodopsin mediated signaling pathway GO:0022400 9.73 GUCY2F GUCY2D GRK1
9 retina morphogenesis in camera-type eye GO:0060042 9.67 PROM1 CRB1
10 visual perception GO:0007601 9.64 TULP1 RPGRIP1 RD3 LRAT GUCY2F GUCY2D
11 cyclic nucleotide biosynthetic process GO:0009190 9.43 GUCY2F GUCY2D

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

# Name GO ID Score Top Affiliating Genes
1 guanylate cyclase activity GO:0004383 9.26 GUCY2F GUCY2D
2 phosphorus-oxygen lyase activity GO:0016849 9.16 GUCY2D GUCY2F
3 peptide receptor activity GO:0001653 8.92 GUCY2F GUCY2D

Sources for Leber Congenital Amaurosis 1

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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