LCA1
MCID: LBR004
MIFTS: 52

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 56 12 52 73 29 13 6 15
Lca1 56 12 52 73
Amaurosis Congenita of Leber, Type 1 74 52 71
Amaurosis Congenita of Leber I 56 12
Retinal Blindness, Congenital 56 52
Crb 56 52
Retinal Blindness, Congenital; Crb 56
Leber Congenital Amaurosis, Type 1 39
Leber Congenital Amaurosis Type 1 52
Leber Congenital Amaurosis Type I 73
Lca 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
leber congenital amaurosis 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Leber Congenital Amaurosis 1

OMIM : 56 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)

MalaCards based summary : Leber Congenital Amaurosis 1, also known as lca1, is related to leber congenital amaurosis / early-onset severe retinal dystrophy and senior-loken syndrome 1, 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, 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 : 73 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 : 74 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 family:

Leber Congenital Amaurosis 1 Leber Congenital Amaurosis 2
Leber Congenital Amaurosis 3 Leber Congenital Amaurosis 4
Leber Congenital Amaurosis 5 Leber Congenital Amaurosis 9
Leber Congenital Amaurosis 12 Leber Congenital Amaurosis 10
Leber Congenital Amaurosis 13 Leber Congenital Amaurosis 14
Leber Congenital Amaurosis 6 Leber Congenital Amaurosis 7
Leber Congenital Amaurosis 8 Leber Congenital Amaurosis 11
Leber Congenital Amaurosis 15 Leber Congenital Amaurosis 16
Leber Congenital Amaurosis 17 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 127)
# Related Disease Score Top Affiliating Genes
1 leber congenital amaurosis / early-onset severe retinal dystrophy 33.1 RPE65 CEP290 AIPL1
2 senior-loken syndrome 1 32.2 TULP1 SPATA7 RPGRIP1 RPE65 RDH12 LCA5
3 leber congenital amaurosis 14 32.1 SPATA7 RDH12 LRAT LCA5 IMPDH1 AIPL1
4 leber congenital amaurosis 15 32.1 TULP1 SPATA7 RDH12 LRAT LCA5 IMPDH1
5 leber congenital amaurosis 11 32.0 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D CRB1
6 leber congenital amaurosis 8 31.9 TULP1 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D
7 leber congenital amaurosis 9 31.8 TULP1 SPATA7 RPE65 RDH12 LRAT LCA5
8 leber congenital amaurosis 7 31.8 TULP1 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D
9 leber congenital amaurosis 6 31.5 TULP1 SPATA7 RPGRIP1 RDH12 LRAT LCA5
10 leber congenital amaurosis 10 31.5 TULP1 SPATA7 RPGRIP1 RPE65 RDH12 LCA5
11 leber congenital amaurosis 2 31.3 TULP1 SPATA7 RPGRIP1 RPE65 RDH12 RD3
12 leber congenital amaurosis 4 31.2 TULP1 SPATA7 RPGRIP1 RPE65 RDH12 RD3
13 leber congenital amaurosis 3 31.2 TULP1 SPATA7 RPGRIP1 RPE65 RDH12 RD3
14 yemenite deaf-blind hypopigmentation syndrome 31.0 RPE65 GUCY2D CRB1 CEP290 AIPL1
15 night blindness 30.7 RPE65 LRAT GUCY2D GRK1
16 cone dystrophy 30.6 RPE65 GUCY2D GUCA1A
17 retinitis 30.5 RPGRIP1 RPE65 RP1 IMPDH1 CRB1
18 leber congenital amaurosis 5 30.4 TULP1 SPATA7 RPGRIP1 RDH12 RD3 LRAT
19 inherited retinal disorder 30.3 RPE65 RP1 RDH12 PROM1 LRAT LCA5
20 coloboma of macula 30.2 CRX CRB1 CEP290
21 pathologic nystagmus 30.0 TULP1 SPATA7 RPE65 RDH12 LCA5 IMPDH1
22 cone-rod dystrophy 2 29.9 TULP1 RPGRIP1 RPE65 RD3 PROM1 GUCY2D
23 retinal disease 29.6 TULP1 RPGRIP1 RPE65 RDH12 LRAT IMPDH1
24 congenital stationary night blindness 29.3 TULP1 RPGRIP1 RPE65 RDH12 LRAT LCA5
25 joubert syndrome 1 29.3 TULP1 SPATA7 RPGRIP1 RPE65 RDH12 RD3
26 leber congenital amaurosis 29.1 TULP1 SPATA7 RPGRIP1 RPE65 RP1 RDH12
27 retinal degeneration 28.8 TULP1 SPATA7 RPGRIP1 RPE65 RP1 RDH12
28 fundus dystrophy 28.7 TULP1 SPATA7 RPGRIP1 RPE65 RP1 RDH12
29 retinitis pigmentosa 28.7 TULP1 SPATA7 RPGRIP1 RPE65 RP1 RDH12
30 littoral cell angioma of the spleen 11.9
31 rpe65-related leber congenital amaurosis / early-onset severe retinal dystrophy 11.6
32 anomalous left coronary artery from the pulmonary artery 11.5
33 arima syndrome 11.3
34 congenital muscular dystrophy with cerebellar involvement 11.2
35 nystagmus 1, congenital, x-linked 11.2
36 senior-loken syndrome 5 11.1
37 leber congenital amaurosis 19 11.1
38 cone-rod dystrophy 8 10.6 LCA5 GUCY2D AIPL1
39 optic disk drusen 10.6 TULP1 RPGRIP1 CRB1
40 pseudoretinitis pigmentosa 10.5 TULP1 IMPDH1 CRB1
41 chorioretinal scar 10.5 RDH12 CRB1
42 partial central choroid dystrophy 10.5 GUCY2D GUCA1B GUCA1A
43 cone-rod dystrophy 13 10.5 SPATA7 RPGRIP1
44 simpson-golabi-behmel syndrome, type 2 10.5 RPGRIP1 LCA5 CEP290
45 hereditary choroidal atrophy 10.5 GUCY2D GUCA1B GUCA1A
46 achromatopsia 3 10.5 RPGRIP1 GUCY2D
47 joubert syndrome 22 10.5 IMPDH1 CRX
48 color blindness 10.5 RPE65 GUCY2D AIPL1
49 enophthalmos 10.5 GUCY2D CEP290
50 degeneration of macula and posterior pole 10.5 RPE65 CRX 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:

56
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

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 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.23 GUCY2D
2 Decreased viability GR00221-A-1 10.23 GRK1 GUCY2D RPGRIP1
3 Decreased viability GR00221-A-2 10.23 GUCY2D RPGRIP1
4 Decreased viability GR00221-A-3 10.23 GUCY2D
5 Decreased viability GR00221-A-4 10.23 GUCY2D RPGRIP1
6 Decreased viability GR00240-S-1 10.23 GUCY2D
7 Decreased viability GR00301-A 10.23 GRK1 RPGRIP1
8 Decreased viability GR00342-S-1 10.23 GRK1
9 Decreased viability GR00342-S-2 10.23 GRK1 GUCY2F
10 Decreased viability GR00381-A-1 10.23 GUCA1A LRAT RPGRIP1
11 Decreased viability GR00402-S-2 10.23 AIPL1 CEP290 CRB1 CRX GRK1 GUCA1A
12 no effect GR00402-S-1 9.62 AIPL1 CEP290 CRB1 CRX GRK1 GUCA1A

MGI Mouse Phenotypes related to Leber Congenital Amaurosis 1:

45
# 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, Lung, Bone Marrow, Pineal, Spleen

Publications for Leber Congenital Amaurosis 1

Articles related to Leber Congenital Amaurosis 1:

(show top 50) (show all 91)
# 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 56 6
23035049 2013
2
Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis. 56 6
16505055 2006
3
Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin. 56 6
12325031 2002
4
Leber Congenital Amaurosis 61 6
20301475 2004
5
Leber congenital amaurosis. 61 56
10527670 1999
6
Functional consequences of a rod outer segment membrane guanylate cyclase (ROS-GC1) gene mutation linked with Leber's congenital amaurosis. 61 6
9888789 1999
7
Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis. 61 56
8944027 1996
8
Evidence of genetic heterogeneity of Leber's congenital amaurosis (LCA) and mapping of LCA1 to chromosome 17p13. 61 56
8641699 1996
9
A gene for Leber's congenital amaurosis maps to chromosome 17p. 61 56
7581387 1995
10
Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview 6
30285347 2018
11
Expanded Retinal Disease Spectrum Associated With Autosomal Recessive Mutations in GUCY2D. 6
29559409 2018
12
Genotype-functional-phenotype correlations in photoreceptor guanylate cyclase (GC-E) encoded by GUCY2D. 6
29061346 2018
13
Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay. 56
24997176 2014
14
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. 6
23105016 2013
15
Genetics and molecular basis of human peroxisome biogenesis disorders. 6
22871920 2012
16
Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis. 56
21153841 2011
17
Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions. 56
20006823 2009
18
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. 56
19430481 2009
19
Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles. 56
16123401 2005
20
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. 56
15024725 2004
21
Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosis. 56
12623820 2003
22
Molecular genetics of Leber congenital amaurosis. 56
12015276 2002
23
Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis. 56
10615133 2000
24
Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotype. 6
10384394 1999
25
Mental retardation in amaurosis congenita of Leber. 56
10029347 1998
26
Two sib cases of Leber congenital amaurosis with cerebellar vermis hypoplasia and multiple systemic anomalies. 56
9714009 1998
27
A retGC-1 mutation in autosomal dominant cone-rod dystrophy. 6
9683616 1998
28
Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. 6
9398847 1997
29
Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders. 6
9398848 1997
30
New autosomal-recessive syndrome of Leber congenital amaurosis, short stature, growth hormone insufficiency, mental retardation, hepatic dysfunction, and metabolic acidosis. 56
9268092 1997
31
Concordance and recessive inheritance of Leber congenital amaurosis. 56
8488871 1993
32
Linkage studies and mutation analysis of the PDEB gene in 23 families with Leber congenital amaurosis. 56
1338765 1992
33
Leber's congenital amaurosis--a new syndrome with a cardiomyopathy. 56
2713302 1989
34
Leber's congenital amaurosis. Retrospective review of 43 cases and a new fundus finding in two cases. 56
3827712 1987
35
Leber's congenital amaurosis associated with hyperthreoninemia. 56
3083684 1986
36
Peroxisomal dysfunction in a boy with neurologic symptoms and amaurosis (Leber disease): clinical and biochemical findings similar to those observed in Zellweger syndrome. 56
3944694 1986
37
High hyperopia in Leber's congenital amaurosis. 56
2413832 1985
38
A syndrome of congenital retinal dystrophy and saccade palsy--a subset of Leber's amaurosis. 56
6722075 1984
39
Leber's congenital amaurosis. Is mental retardation a frequent associated defect? 56
7092650 1982
40
Leber's congenital amaurosis with an Ehlers-Danlos-like syndrome. Study of an American family. 56
5635335 1968
41
Leber's congenital tapetoretinal degeneration. 56
5741529 1968
42
Congenital amaurosis of Leber. 56
16874987 1966
43
ON VARIOUS RECESSIVE BIOTYPES OF LEBER'S CONGENITAL AMAUROSIS. 56
14047474 1963
44
Retinal Aplasia as a Clinical Entity. 56
20788857 1960
45
Amaurosis congenita (Leber). 56
13616783 1959
46
A novel deletion mutation in GUCY2D gene may be responsible for Leber congenital amaurosis-1 disease: A case report. 61
31844802 2019
47
Somatic Gene Editing of GUCY2D by AAV-CRISPR/Cas9 Alters Retinal Structure and Function in Mouse and Macaque. 61
30358434 2019
48
Biocontrol of the internalization of Salmonella enterica and Enterohaemorrhagic Escherichia coli in mung bean sprouts with an endophytic Bacillus subtilis. 61
28364624 2017
49
Mouse Models as Tools to Identify Genetic Pathways for Retinal Degeneration, as Exemplified by Leber's Congenital Amaurosis. 61
27150101 2016
50
Functional study of two biochemically unusual mutations in GUCY2D Leber congenital amaurosis expressed via adenoassociated virus vector in mouse retinas. 61
27881908 2016

Variations for Leber Congenital Amaurosis 1

ClinVar genetic disease variations for Leber Congenital Amaurosis 1:

6 (show top 50) (show all 85) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GUCY2D GUCY2D, 1-BP DEL, 2943Gdeletion Pathogenic 9358
2 CRB1 NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr)SNV Pathogenic 39614 rs62645748 1:197403836-197403836 1:197434706-197434706
3 GUCY2D NM_000180.3(GUCY2D):c.3233_3236dupACCA (p.His1079Glnfs)duplication Pathogenic 65572 rs386834239 17:7919766-7919767 17:8016448-8016449
4 GUCY2D NM_000180.3(GUCY2D):c.1694T>C (p.Phe565Ser)SNV Pathogenic 9350 rs61749755 17:7912849-7912849 17:8009531-8009531
5 GUCY2D NM_000180.3(GUCY2D):c.2302C>T (p.Arg768Trp)SNV Pathogenic 98563 rs61750168 17:7917236-7917236 17:8013918-8013918
6 GUCY2D NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs)deletion Pathogenic 98602 rs61749670 17:7906752-7906752 17:8003434-8003434
7 GUCY2D NM_000180.4(GUCY2D):c.622del (p.Arg208fs)deletion Pathogenic 98607 rs61749671 17:7906985-7906985 17:8003667-8003667
8 CRB1 NM_201253.3(CRB1):c.613_619del (p.Ile205fs)deletion Pathogenic 99913 rs62645752 1:197298091-197298097 1:197328961-197328967
9 CRB1 NM_201253.3(CRB1):c.2842T>C (p.Cys948Arg)SNV Pathogenic 427863 rs62645747 1:197398744-197398744 1:197429614-197429614
10 GUCY2D NM_000180.3(GUCY2D):c.2114-27_2263+18deldeletion Pathogenic 430835 rs1555635550 17:7916391-7916585 17:8013073-8013267
11 RPGRIP1 NM_020366.3(RPGRIP1):c.2941C>T (p.Arg981Ter)SNV Pathogenic 438163 rs780667159 14:21796628-21796628 14:21328469-21328469
12 GUCY2D NM_000180.3(GUCY2D):c.2377delG (p.Glu793Asnfs)deletion Pathogenic 471236 rs1555635668 17:7917310-7917310 17:8013992-8013992
13 GUCY2D NM_000180.3(GUCY2D):c.2563C>T (p.Gln855Ter)SNV Pathogenic 497765 rs1555635778 17:7918069-7918069 17:8014751-8014751
14 TULP1 NM_003322.6(TULP1):c.524dup (p.Pro176fs)duplication Pathogenic 547179 rs1327062642 6:35477680-35477681 6:35509903-35509904
15 GUCY2D NM_000180.3(GUCY2D):c.3224+1G>CSNV Pathogenic 581095 rs757823463 17:7919609-7919609 17:8016291-8016291
16 GUCY2D NC_000017.10:g.(?_7906220)_(7919868_?)deldeletion Pathogenic 584235 17:7906220-7919868 17:8002902-8016550
17 GUCY2D NM_000180.3(GUCY2D):c.2766C>G (p.Tyr922Ter)SNV Pathogenic 587413 rs1006935198 17:7918366-7918366 17:8015048-8015048
18 GUCY2D NM_000180.3(GUCY2D):c.2303G>A (p.Arg768Gln)SNV Pathogenic 560463 rs750889782 17:7917237-7917237 17:8013919-8013919
19 GUCY2D NM_000180.3(GUCY2D):c.1561C>T (p.Arg521Ter)SNV Pathogenic 638494 17:7910841-7910841 17:8007523-8007523
20 GUCY2D NM_000180.3:c.1633C>TSNV Pathogenic 689384 17:7911315-7911315 17:8007997-8007997
21 PROM1 NM_006017.3(PROM1):c.1877_1878del (p.Ile626fs)deletion Pathogenic 694037 rs1300041533 4:15993904-15993905 4:15992281-15992282
22 PROM1 NM_006017.3(PROM1):c.139del (p.His47fs)deletion Pathogenic 694038 rs747512450 4:16077391-16077391 4:16075768-16075768
23 GUCY2D NM_000180.4(GUCY2D):c.914del (p.His305fs)deletion Pathogenic 642720 17:7907362-7907362 17:8004044-8004044
24 CRB1 NM_201253.3(CRB1):c.281_282del (p.Phe94fs)deletion Pathogenic 801590 1:197297761-197297762 1:197328631-197328632
25 CRB1 NM_201253.3(CRB1):c.984G>A (p.Trp328Ter)SNV Pathogenic 801594 1:197316605-197316605 1:197347475-197347475
26 CRB1 NM_201253.3(CRB1):c.1455_1458dup (p.Ser487fs)duplication Pathogenic 801596 1:197390412-197390413 1:197421282-197421283
27 CRB1 NM_201253.3(CRB1):c.2533_2539del (p.Gly845fs)deletion Pathogenic 801599 1:197396986-197396992 1:197427856-197427862
28 CRB1 NM_201253.3(CRB1):c.3460_3461TG[1] (p.Cys1154_Glu1155delinsTer)short repeat Pathogenic 801600 1:197404453-197404454 1:197435323-197435324
29 TULP1 NM_003322.6(TULP1):c.1560C>A (p.Tyr520Ter)SNV Pathogenic 802207 6:35466173-35466173 6:35498396-35498396
30 TULP1 NM_003322.6(TULP1):c.1388del (p.Asn463fs)deletion Pathogenic 802208 6:35467865-35467865 6:35500088-35500088
31 LCA5 NM_001122769.3(LCA5):c.955G>A (p.Ala319Thr)SNV Pathogenic 802243 6:80202268-80202268 6:79492551-79492551
32 RPGRIP1 NM_020366.3(RPGRIP1):c.2759_2760insT (p.Gln920fs)insertion Pathogenic 803005 14:21795830-21795831 14:21327671-21327672
33 CRX NM_000554.6(CRX):c.500_501del (p.Ala166_Ser167insTer)deletion Pathogenic 803571 19:48342824-48342825 19:47839567-47839568
34 RPGRIP1 NM_020366.3(RPGRIP1):c.800+1G>ASNV Pathogenic/Likely pathogenic 803002 14:21771703-21771703 14:21303544-21303544
35 CRX NM_000554.6(CRX):c.478_479GT[1] (p.Ser161fs)short repeat Likely pathogenic 803570 19:48342801-48342802 19:47839544-47839545
36 RPGRIP1 NM_020366.3(RPGRIP1):c.800G>A (p.Arg267Gln)SNV Likely pathogenic 803001 14:21771702-21771702 14:21303543-21303543
37 CRB1 NM_201253.3(CRB1):c.488G>T (p.Cys163Phe)SNV Likely pathogenic 801593 1:197297969-197297969 1:197328839-197328839
38 LRAT NM_004744.5(LRAT):c.346T>C (p.Phe116Leu)SNV Likely pathogenic 802098 4:155665824-155665824 4:154744672-154744672
39 RPGRIP1 NM_020366.3(RPGRIP1):c.2468A>G (p.Tyr823Cys)SNV Likely pathogenic 803004 14:21794090-21794090 14:21325931-21325931
40 TULP1 NM_003322.6(TULP1):c.1082G>A (p.Arg361Gln)SNV Likely pathogenic 802209 6:35473548-35473548 6:35505771-35505771
41 TULP1 NM_003322.6(TULP1):c.931C>T (p.Arg311Trp)SNV Likely pathogenic 802210 6:35473848-35473848 6:35506071-35506071
42 CRB1 NM_201253.3(CRB1):c.3653G>A (p.Cys1218Tyr)SNV Likely pathogenic 801601 1:197404646-197404646 1:197435516-197435516
43 CRB1 NM_201253.3(CRB1):c.3961T>G (p.Cys1321Gly)SNV Likely pathogenic 801602 1:197411378-197411378 1:197442248-197442248
44 LRAT NM_004744.5(LRAT):c.163C>G (p.Arg55Gly)SNV Likely pathogenic 802096 4:155665641-155665641 4:154744489-154744489
45 CRB1 NM_201253.3(CRB1):c.1633T>C (p.Ser545Pro)SNV Likely pathogenic 801597 1:197390591-197390591 1:197421461-197421461
46 CRB1 NM_201253.3(CRB1):c.1843G>A (p.Gly615Ser)SNV Likely pathogenic 801598 1:197390801-197390801 1:197421671-197421671
47 GUCY2D NM_000180.4(GUCY2D):c.1391del (p.Gly464fs)deletion Likely pathogenic 623307 rs1567958644 17:7910388-7910388 17:8007070-8007070
48 GUCY2D NM_000180.3(GUCY2D):c.1956+2T>ASNV Likely pathogenic 98550 rs61749758 17:7915670-7915670 17:8012352-8012352
49 GUCY2D NM_000180.3(GUCY2D):c.1040_1041delTT (p.Phe347Trpfs)deletion Likely pathogenic 438657 rs763890649 17:7909693-7909694 17:8006375-8006376
50 CRB1 NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr)SNV Conflicting interpretations of pathogenicity 372352 rs116471343 1:197396961-197396961 1:197427831-197427831

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
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 10.02 TULP1 SPATA7 RPGRIP1 RP1 PROM1 LCA5
2 cilium GO:0005929 9.85 TULP1 RPGRIP1 RP1 PROM1 LCA5 CEP290
3 axoneme GO:0005930 9.71 SPATA7 RPGRIP1 RP1 LCA5
4 photoreceptor connecting cilium GO:0032391 9.65 SPATA7 RPGRIP1 RP1 LCA5 CEP290
5 ciliary basal body GO:0036064 9.61 SPATA7 LCA5 CEP290
6 photoreceptor disc membrane GO:0097381 9.55 GUCY2F GUCY2D GUCA1B GUCA1A GRK1
7 photoreceptor outer segment GO:0001750 9.5 TULP1 SPATA7 RP1 RD3 PROM1 GUCY2D
8 nuclear outer membrane GO:0005640 9.46 GUCY2F GUCY2D
9 photoreceptor inner segment GO:0001917 9.17 TULP1 RP1 RDH12 RD3 GUCA1B CRB1

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

(show all 18)
# 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 9.77 TULP1 RPGRIP1 RPE65 RP1 RD3
3 photoreceptor cell maintenance GO:0045494 9.73 TULP1 SPATA7 RP1 RDH12 PROM1 LCA5
4 retinoid metabolic process GO:0001523 9.71 RPE65 RDH12 LRAT
5 retinol metabolic process GO:0042572 9.67 RPE65 RDH12 LRAT
6 retina homeostasis GO:0001895 9.65 TULP1 RPE65 AIPL1
7 detection of light stimulus involved in visual perception GO:0050908 9.63 TULP1 RPE65 GUCY2F
8 regulation of rhodopsin mediated signaling pathway GO:0022400 9.63 GUCY2F GUCY2D GUCA1B GUCA1A GRK1 AIPL1
9 eye photoreceptor cell development GO:0042462 9.62 TULP1 RPGRIP1 CRB1 CEP290
10 retina morphogenesis in camera-type eye GO:0060042 9.61 RPE65 RP1 PROM1
11 cyclic nucleotide biosynthetic process GO:0009190 9.58 GUCY2F GUCY2D
12 receptor guanylyl cyclase signaling pathway GO:0007168 9.58 GUCY2F GUCY2D GUCA1B
13 positive regulation of guanylate cyclase activity GO:0031284 9.57 GUCA1B GUCA1A
14 cGMP biosynthetic process GO:0006182 9.56 GUCY2F GUCY2D
15 phototransduction, visible light GO:0007603 9.55 RP1 AIPL1
16 vitamin A metabolic process GO:0006776 9.52 RPE65 LRAT
17 protein localization to photoreceptor outer segment GO:1903546 9.51 TULP1 SPATA7
18 visual perception GO:0007601 9.5 TULP1 SPATA7 RPGRIP1 RPE65 RP1 RDH12

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 9.37 GUCY2F GUCY2D
2 guanylate cyclase activity GO:0004383 9.32 GUCY2F GUCY2D
3 natriuretic peptide receptor activity GO:0016941 9.26 GUCY2F GUCY2D
4 calcium sensitive guanylate cyclase activator activity GO:0008048 9.16 GUCA1B GUCA1A
5 peptide receptor activity GO:0001653 8.96 GUCY2F GUCY2D
6 guanylate cyclase regulator activity GO:0030249 8.62 GUCA1B GUCA1A

Sources for Leber Congenital Amaurosis 1

3 CDC
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