MCID: LBR004
MIFTS: 38

Leber Congenital Amaurosis 1

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

Aliases & Classifications for Leber Congenital Amaurosis 1

MalaCards integrated aliases for Leber Congenital Amaurosis 1:

Name: Leber Congenital Amaurosis 1 57 12 53 75 29 13 6 15
Lca1 57 12 53 75
Amaurosis Congenita of Leber, Type 1 76 53 73
Amaurosis Congenita of Leber I 57 12
Retinal Blindness, Congenital 57 53
Crb 57 53
Retinal Blindness, Congenital; Crb 57
Leber Congenital Amaurosis, Type 1 40
Leber Congenital Amaurosis Type 1 53
Leber Congenital Amaurosis Type I 75
Lca 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
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)

MalaCards based summary : Leber Congenital Amaurosis 1, also known as lca1, is related to leber congenital amaurosis and nystagmus 1, congenital, x-linked, 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 and retina, and related phenotypes are nystagmus and intellectual disability

UniProtKB/Swiss-Prot : 75 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.

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.

Wikipedia : 76 Leber\'s congenital amaurosis (LCA) is a rare inherited eye disease that appears at birth or in the... 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

Diseases related to Leber Congenital Amaurosis 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)
# Related Disease Score Top Affiliating Genes
1 leber congenital amaurosis 25.9 ARR3 GRK1 GUCA1A GUCA1B GUCY2D RD3
2 nystagmus 1, congenital, x-linked 10.9
3 leber congenital amaurosis 3 10.9
4 leber congenital amaurosis 4 10.9
5 leber congenital amaurosis 10 10.9
6 leber congenital amaurosis 14 10.9
7 leber congenital amaurosis 15 10.9
8 cone-rod dystrophy 6 9.8 GUCA1A GUCY2D
9 leber congenital amaurosis 12 9.8 GUCY2D RD3
10 eye degenerative disease 9.7 GUCA1A GUCY2D
11 retinal disease 9.5 GUCA1A GUCY2D
12 choroidal dystrophy, central areolar, 1 9.5 GUCA1A GUCA1B GUCY2D
13 hereditary choroidal atrophy 9.5 GUCA1A GUCA1B GUCY2D
14 partial central choroid dystrophy 9.4 GUCA1A GUCA1B GUCY2D
15 cone-rod dystrophy 2 9.4 GUCA1A GUCA1B GUCY2D
16 retinal degeneration 9.2 GUCA1A GUCY2D RD3
17 fundus dystrophy 9.0 GRK1 GUCA1A GUCA1B GUCY2D
18 retinitis pigmentosa 7.3 ARR3 GRK1 GUCA1A GUCA1B GUCY2D RD3

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
cataract
blindness
photophobia
keratoconus
more
Neurologic Central Nervous System:
mental retardation

Head And Neck Ears:
sensory hearing loss

Abdomen Liver:
hepatomegaly

Growth Other:
retarded growth

Laboratory Abnormalities:
hyperthreoninemia
hyperthreoninuria


Clinical features from OMIM:

204000

Human phenotypes related to Leber Congenital Amaurosis 1:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 intellectual disability 32 HP:0001249
3 cataract 32 HP:0000518
4 hepatomegaly 32 HP:0002240
5 sensorineural hearing impairment 32 HP:0000407
6 blindness 32 HP:0000618
7 photophobia 32 HP:0000613
8 growth delay 32 HP:0001510
9 reduced visual acuity 32 HP:0007663
10 keratoconus 32 HP:0000563
11 pigmentary retinopathy 32 HP:0000580
12 fundus atrophy 32 HP:0001099
13 eye poking 32 HP:0001483
14 hyperthreoninemia 32 HP:0003354
15 hyperthreoninuria 32 HP:0003296
16 decreased light- and dark-adapted electroretinogram amplitude 32 HP:0000654

UMLS symptoms related to Leber Congenital Amaurosis 1:


photophobia

MGI Mouse Phenotypes related to Leber Congenital Amaurosis 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.1 ARR3 GRK1 GUCA1A GUCA1B GUCY2D RD3

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:

41
Eye, Retina

Publications for Leber Congenital Amaurosis 1

Variations for Leber Congenital Amaurosis 1

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

75 (show all 19)
# 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
18 GUCY2D p.Arg795Gln VAR_067181 rs61750171
19 GUCY2D p.Ser1007Leu VAR_067182

ClinVar genetic disease variations for Leber Congenital Amaurosis 1:

6
(show all 37)
# Gene Variation Type Significance SNP ID Assembly Location
1 GUCY2D NM_000180.3(GUCY2D): c.1694T> C (p.Phe565Ser) single nucleotide variant Pathogenic rs61749755 GRCh37 Chromosome 17, 7912849: 7912849
2 GUCY2D NM_000180.3(GUCY2D): c.1694T> C (p.Phe565Ser) single nucleotide variant Pathogenic rs61749755 GRCh38 Chromosome 17, 8009531: 8009531
3 GUCY2D GUCY2D, 1-BP DEL, 460C deletion Pathogenic
4 GUCY2D GUCY2D, 1-BP DEL, 693C deletion Pathogenic
5 GUCY2D GUCY2D, 1-BP DEL, 2943G deletion Pathogenic
6 GUCY2D NM_000180.3(GUCY2D): c.3233_3236dupACCA (p.His1079Glnfs) duplication Pathogenic rs386834239 GRCh37 Chromosome 17, 7919769: 7919772
7 GUCY2D NM_000180.3(GUCY2D): c.3233_3236dupACCA (p.His1079Glnfs) duplication Pathogenic rs386834239 GRCh38 Chromosome 17, 8016451: 8016454
8 GUCY2D NM_000180.3(GUCY2D): c.2302C> T (p.Arg768Trp) single nucleotide variant Pathogenic rs61750168 GRCh37 Chromosome 17, 7917236: 7917236
9 GUCY2D NM_000180.3(GUCY2D): c.2302C> T (p.Arg768Trp) single nucleotide variant Pathogenic rs61750168 GRCh38 Chromosome 17, 8013918: 8013918
10 GUCY2D NM_000180.3(GUCY2D): c.2983C> T (p.Arg995Trp) single nucleotide variant Likely pathogenic rs61750187 GRCh37 Chromosome 17, 7919099: 7919099
11 GUCY2D NM_000180.3(GUCY2D): c.2983C> T (p.Arg995Trp) single nucleotide variant Likely pathogenic rs61750187 GRCh38 Chromosome 17, 8015781: 8015781
12 GUCY2D NM_000180.3(GUCY2D): c.2577G> T (p.Pro859=) single nucleotide variant Benign rs112372281 GRCh37 Chromosome 17, 7918177: 7918177
13 GUCY2D NM_000180.3(GUCY2D): c.2577G> T (p.Pro859=) single nucleotide variant Benign rs112372281 GRCh38 Chromosome 17, 8014859: 8014859
14 GUCY2D NM_000180.3(GUCY2D): c.3225-7C> T single nucleotide variant Benign rs79887212 GRCh37 Chromosome 17, 7919754: 7919754
15 GUCY2D NM_000180.3(GUCY2D): c.3225-7C> T single nucleotide variant Benign rs79887212 GRCh38 Chromosome 17, 8016436: 8016436
16 GUCY2D NM_000180.3(GUCY2D): c.3297G> A (p.Pro1099=) single nucleotide variant Benign rs142351773 GRCh37 Chromosome 17, 7919833: 7919833
17 GUCY2D NM_000180.3(GUCY2D): c.3297G> A (p.Pro1099=) single nucleotide variant Benign rs142351773 GRCh38 Chromosome 17, 8016515: 8016515
18 GUCY2D NM_000180.3(GUCY2D): c.1773delC (p.Asn591Lysfs) deletion Pathogenic rs794727952 GRCh37 Chromosome 17, 7915485: 7915485
19 GUCY2D NM_000180.3(GUCY2D): c.1773delC (p.Asn591Lysfs) deletion Pathogenic rs794727952 GRCh38 Chromosome 17, 8012167: 8012167
20 GUCY2D NM_000180.3(GUCY2D): c.3044-7G> T single nucleotide variant Benign rs56348143 GRCh38 Chromosome 17, 8015920: 8015920
21 GUCY2D NM_000180.3(GUCY2D): c.3044-7G> T single nucleotide variant Benign rs56348143 GRCh37 Chromosome 17, 7919238: 7919238
22 GUCY2D NM_000180.3(GUCY2D): c.129_134delTCTGCT (p.Leu44_Leu45del) deletion Conflicting interpretations of pathogenicity rs552184470 GRCh37 Chromosome 17, 7906494: 7906499
23 GUCY2D NM_000180.3(GUCY2D): c.129_134delTCTGCT (p.Leu44_Leu45del) deletion Conflicting interpretations of pathogenicity rs552184470 GRCh38 Chromosome 17, 8003176: 8003181
24 GUCY2D NG_009092.1: g.15407_15601del195 deletion Pathogenic GRCh37 Chromosome 17, 7916394: 7916588
25 GUCY2D NG_009092.1: g.15407_15601del195 deletion Pathogenic GRCh38 Chromosome 17, 8013076: 8013270
26 GUCY2D NM_000180.3(GUCY2D): c.1040_1041delTT (p.Phe347Trpfs) deletion Likely pathogenic rs763890649 GRCh38 Chromosome 17, 8006376: 8006377
27 GUCY2D NM_000180.3(GUCY2D): c.1040_1041delTT (p.Phe347Trpfs) deletion Likely pathogenic rs763890649 GRCh37 Chromosome 17, 7909694: 7909695
28 GUCY2D NM_000180.3(GUCY2D): c.2377delG (p.Glu793Asnfs) deletion Pathogenic GRCh38 Chromosome 17, 8013993: 8013993
29 GUCY2D NM_000180.3(GUCY2D): c.2377delG (p.Glu793Asnfs) deletion Pathogenic GRCh37 Chromosome 17, 7917311: 7917311
30 GUCY2D NM_000180.3(GUCY2D): c.696G> T (p.Lys232Asn) single nucleotide variant Uncertain significance rs181800610 GRCh37 Chromosome 17, 7907061: 7907061
31 GUCY2D NM_000180.3(GUCY2D): c.696G> T (p.Lys232Asn) single nucleotide variant Uncertain significance rs181800610 GRCh38 Chromosome 17, 8003743: 8003743
32 GUCY2D NM_000180.3(GUCY2D): c.2598G> C (p.Lys866Asn) single nucleotide variant Uncertain significance rs201587670 GRCh37 Chromosome 17, 7918198: 7918198
33 GUCY2D NM_000180.3(GUCY2D): c.2598G> C (p.Lys866Asn) single nucleotide variant Uncertain significance rs201587670 GRCh38 Chromosome 17, 8014880: 8014880
34 GUCY2D NM_000180.3(GUCY2D): c.1119G> A (p.Val373=) single nucleotide variant Benign rs56034424 GRCh37 Chromosome 17, 7909773: 7909773
35 GUCY2D NM_000180.3(GUCY2D): c.1119G> A (p.Val373=) single nucleotide variant Benign rs56034424 GRCh38 Chromosome 17, 8006455: 8006455
36 GUCY2D NM_000180.3(GUCY2D): c.2563C> T (p.Gln855Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 7918069: 7918069
37 GUCY2D NM_000180.3(GUCY2D): c.2563C> T (p.Gln855Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 8014751: 8014751

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 inner segment GO:0001917 9.13 ARR3 GUCA1A GUCA1B
2 photoreceptor disc membrane GO:0097381 8.92 GRK1 GUCA1A GUCA1B GUCY2D

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

# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.73 ARR3 GRK1 GUCA1A GUCY2D
2 response to stimulus GO:0050896 9.63 ARR3 GRK1 GUCA1A GUCA1B GUCY2D RD3
3 phototransduction GO:0007602 9.4 GUCA1A GUCA1B
4 positive regulation of guanylate cyclase activity GO:0031284 9.37 GUCA1A GUCA1B
5 receptor guanylyl cyclase signaling pathway GO:0007168 9.32 GUCA1B GUCY2D
6 regulation of guanylate cyclase activity GO:0031282 9.26 GUCA1A GUCA1B
7 regulation of rhodopsin mediated signaling pathway GO:0022400 9.26 GRK1 GUCA1A GUCA1B GUCY2D
8 visual perception GO:0007601 9.1 ARR3 GRK1 GUCA1A GUCA1B GUCY2D RD3

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

# Name GO ID Score Top Affiliating Genes
1 calcium sensitive guanylate cyclase activator activity GO:0008048 8.96 GUCA1A GUCA1B
2 guanylate cyclase regulator activity GO:0030249 8.62 GUCA1A GUCA1B

Sources for Leber Congenital Amaurosis 1

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
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30 HGMD
31 HMDB
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33 ICD10
34 ICD10 via Orphanet
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62 PubMed
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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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