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MCID: LBR018
MIFTS: 30

Leber Congenital Amaurosis 8

Categories: Genetic diseases, Rare diseases, Eye diseases, Neuronal diseases
Genes Variations Tissues Related diseases Pathways Symptoms & Phenotypes
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Aliases & Classifications for Leber Congenital Amaurosis 8

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MalaCards integrated aliases for Leber Congenital Amaurosis 8:

Name: Leber Congenital Amaurosis 8 57 12 53 75 29 13 6 15 73
Lca8 57 12 53 75
Leber Congenital Amaurosis, Type 8 40

Characteristics:

HPO:

32
leber congenital amaurosis 8:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Eye diseases Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 33


External Ids:

OMIM 57 613835
Disease Ontology 12 DOID:0110079
ICD10 33 H35.5
MedGen 42 C3151202
MeSH 44 D057130
UMLS 73 C3151202
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Summaries for Leber Congenital Amaurosis 8

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OMIM : 57 Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by Chung and Traboulsi, 2009). For a general description and a discussion of genetic heterogeneity of LCA, see 204000. (613835)

MalaCards based summary : Leber Congenital Amaurosis 8, also known as lca8, is related to leber congenital amaurosis. An important gene associated with Leber Congenital Amaurosis 8 is CRB1 (Crumbs 1, Cell Polarity Complex Component), and among its related pathways/superpathways are Sertoli-Sertoli Cell Junction Dynamics and Tight junction. Affiliated tissues include retina and eye, and related phenotypes are visual impairment and cataract

Disease Ontology : 12 A Leber congenital amaurosis that is characterized by night blindness and thick unlaminated retinas and has material basis in mutation in the CRB1 gene on chromosome 1q31-q32.

UniProtKB/Swiss-Prot : 75 Leber congenital amaurosis 8: 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.

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Related Diseases for Leber Congenital Amaurosis 8

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

# Related Disease Score Top Affiliating Genes
1 leber congenital amaurosis 7.6 CRB1 CRB2 CRB3 MPP5

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Symptoms & Phenotypes for Leber Congenital Amaurosis 8

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Clinical features from OMIM:

613835

Human phenotypes related to Leber Congenital Amaurosis 8:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 visual impairment 32 HP:0000505
2 cataract 32 HP:0000518
3 undetectable electroretinogram 32 HP:0000550
4 keratoconus 32 HP:0000563
5 high hypermetropia 32 HP:0008499
6 pendular nystagmus 32 HP:0012043

MGI Mouse Phenotypes related to Leber Congenital Amaurosis 8:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 8.8 CRB1 CRB2 MPP5
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Drugs & Therapeutics for Leber Congenital Amaurosis 8

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Search Clinical Trials , NIH Clinical Center for Leber Congenital Amaurosis 8

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Genetic Tests for Leber Congenital Amaurosis 8

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Genetic tests related to Leber Congenital Amaurosis 8:

# Genetic test Affiliating Genes
1 Leber Congenital Amaurosis 8 29 CRB1
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Anatomical Context for Leber Congenital Amaurosis 8

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MalaCards organs/tissues related to Leber Congenital Amaurosis 8:

41
Retina, Eye
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Publications for Leber Congenital Amaurosis 8

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Variations for Leber Congenital Amaurosis 8

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UniProtKB/Swiss-Prot genetic disease variations for Leber Congenital Amaurosis 8:

75 (show all 36)
# Symbol AA change Variation ID SNP ID
1 CRB1 p.Thr745Met VAR_011643 rs28939720
2 CRB1 p.Arg764Cys VAR_011644 rs62635654
3 CRB1 p.Cys948Tyr VAR_011645 rs62645748
4 CRB1 p.Ile1100Arg VAR_011648 rs62635659
5 CRB1 p.Phe144Val VAR_022941 rs62636262
6 CRB1 p.Cys383Tyr VAR_022946 rs62645754
7 CRB1 p.Cys480Gly VAR_022948
8 CRB1 p.Cys480Arg VAR_022949 rs62636264
9 CRB1 p.Asp584Tyr VAR_022951
10 CRB1 p.Cys681Tyr VAR_022954 rs62636266
11 CRB1 p.Glu710Gln VAR_022955 rs62645755
12 CRB1 p.Met741Thr VAR_022956 rs62636267
13 CRB1 p.Gly850Ser VAR_022963 rs776591659
14 CRB1 p.Ile852Thr VAR_022964 rs62636271
15 CRB1 p.Ile989Thr VAR_022971
16 CRB1 p.Ser1025Ile VAR_022972 rs62636274
17 CRB1 p.Gly1103Arg VAR_022974 rs62636275
18 CRB1 p.Leu1107Pro VAR_022975 rs62636276
19 CRB1 p.Leu1107Arg VAR_022976 rs62636276
20 CRB1 p.Gly1205Arg VAR_022977 rs574742644
21 CRB1 p.Cys1218Phe VAR_022978
22 CRB1 p.Asn1317His VAR_022979 rs62636281
23 CRB1 p.Cys1321Ser VAR_022980 rs62635649
24 CRB1 p.Gly333Asp VAR_067131 rs587783015
25 CRB1 p.Cys438Tyr VAR_067132
26 CRB1 p.Gly454Arg VAR_067133 rs954595597
27 CRB1 p.Leu535Pro VAR_067136 rs113082791
28 CRB1 p.Asp564Tyr VAR_067137
29 CRB1 p.Leu753Pro VAR_067142 rs896160584
30 CRB1 p.Cys939Tyr VAR_067147
31 CRB1 p.Ile1003Thr VAR_067148
32 CRB1 p.Tyr1161Cys VAR_067152
33 CRB1 p.Cys1174Gly VAR_067153 rs917768074
34 CRB1 p.Cys1332Phe VAR_067157 rs377543137
35 CRB1 p.Pro1381Leu VAR_067159
36 CRB1 p.Cys948Arg VAR_079626

ClinVar genetic disease variations for Leber Congenital Amaurosis 8:

6
(show all 36)
# Gene Variation Type Significance SNP ID Assembly Location
1 CRB1 NM_201253.2(CRB1): c.3299T> G (p.Ile1100Arg) single nucleotide variant Pathogenic rs62635659 GRCh37 Chromosome 1, 197404292: 197404292
2 CRB1 NM_201253.2(CRB1): c.3299T> G (p.Ile1100Arg) single nucleotide variant Pathogenic rs62635659 GRCh38 Chromosome 1, 197435162: 197435162
3 CRB1 NM_201253.2(CRB1): c.3997G> T (p.Glu1333Ter) single nucleotide variant Pathogenic rs137853136 GRCh37 Chromosome 1, 197411414: 197411414
4 CRB1 NM_201253.2(CRB1): c.3997G> T (p.Glu1333Ter) single nucleotide variant Pathogenic rs137853136 GRCh38 Chromosome 1, 197442284: 197442284
5 CRB1 NM_201253.2(CRB1): c.2401A> T (p.Lys801Ter) single nucleotide variant Pathogenic rs137853137 GRCh37 Chromosome 1, 197396856: 197396856
6 CRB1 NM_201253.2(CRB1): c.2401A> T (p.Lys801Ter) single nucleotide variant Pathogenic rs137853137 GRCh38 Chromosome 1, 197427726: 197427726
7 CRB1 NM_201253.2(CRB1): c.3307G> A (p.Gly1103Arg) single nucleotide variant Pathogenic rs62636275 GRCh37 Chromosome 1, 197404300: 197404300
8 CRB1 NM_201253.2(CRB1): c.3307G> A (p.Gly1103Arg) single nucleotide variant Pathogenic rs62636275 GRCh38 Chromosome 1, 197435170: 197435170
9 CRB1 NM_201253.2(CRB1): c.4121_4130delCAACTCAGGG (p.Ala1374Glufs) deletion Pathogenic rs281865175 GRCh37 Chromosome 1, 197446909: 197446918
10 CRB1 NM_201253.2(CRB1): c.4121_4130delCAACTCAGGG (p.Ala1374Glufs) deletion Pathogenic rs281865175 GRCh38 Chromosome 1, 197477779: 197477788
11 CRB1 NM_201253.2(CRB1): c.2843G> A (p.Cys948Tyr) single nucleotide variant Pathogenic rs62645748 GRCh37 Chromosome 1, 197403836: 197403836
12 CRB1 NM_201253.2(CRB1): c.2843G> A (p.Cys948Tyr) single nucleotide variant Pathogenic rs62645748 GRCh38 Chromosome 1, 197434706: 197434706
13 CRB1 NM_201253.2(CRB1): c.2555T> C (p.Ile852Thr) single nucleotide variant Pathogenic rs62636271 GRCh37 Chromosome 1, 197397010: 197397010
14 CRB1 NM_201253.2(CRB1): c.2555T> C (p.Ile852Thr) single nucleotide variant Pathogenic rs62636271 GRCh38 Chromosome 1, 197427880: 197427880
15 CRB1 NM_201253.2(CRB1): c.2688T> A (p.Cys896Ter) single nucleotide variant Pathogenic rs62636273 GRCh37 Chromosome 1, 197398590: 197398590
16 CRB1 NM_201253.2(CRB1): c.2688T> A (p.Cys896Ter) single nucleotide variant Pathogenic rs62636273 GRCh38 Chromosome 1, 197429460: 197429460
17 CRB1 NM_201253.2(CRB1): c.1576C> T (p.Arg526Ter) single nucleotide variant Pathogenic rs114342808 GRCh37 Chromosome 1, 197390534: 197390534
18 CRB1 NM_201253.2(CRB1): c.1576C> T (p.Arg526Ter) single nucleotide variant Pathogenic rs114342808 GRCh38 Chromosome 1, 197421404: 197421404
19 CRB1 NM_201253.2(CRB1): c.998G> A (p.Gly333Asp) single nucleotide variant Pathogenic rs587783015 GRCh38 Chromosome 1, 197356840: 197356840
20 CRB1 NM_201253.2(CRB1): c.998G> A (p.Gly333Asp) single nucleotide variant Pathogenic rs587783015 GRCh37 Chromosome 1, 197325970: 197325970
21 CRB1 NM_201253.2(CRB1): c.3383delT (p.Ile1128Thrfs) deletion Pathogenic rs794727980 GRCh37 Chromosome 1, 197404376: 197404376
22 CRB1 NM_201253.2(CRB1): c.3383delT (p.Ile1128Thrfs) deletion Pathogenic rs794727980 GRCh38 Chromosome 1, 197435246: 197435246
23 CRB1 NM_201253.2(CRB1): c.2714G> A (p.Arg905Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs114052315 GRCh38 Chromosome 1, 197429486: 197429486
24 CRB1 NM_201253.2(CRB1): c.2714G> A (p.Arg905Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs114052315 GRCh37 Chromosome 1, 197398616: 197398616
25 CRB1 NM_201253.2(CRB1): c.1043G> A (p.Cys348Tyr) single nucleotide variant Likely pathogenic rs886039871 GRCh37 Chromosome 1, 197326015: 197326015
26 CRB1 NM_201253.2(CRB1): c.1043G> A (p.Cys348Tyr) single nucleotide variant Likely pathogenic rs886039871 GRCh38 Chromosome 1, 197356885: 197356885
27 CRB1 NM_201253.2(CRB1): c.1182C> A (p.Cys394Ter) single nucleotide variant Pathogenic rs115352681 GRCh37 Chromosome 1, 197390140: 197390140
28 CRB1 NM_201253.2(CRB1): c.1182C> A (p.Cys394Ter) single nucleotide variant Pathogenic rs115352681 GRCh38 Chromosome 1, 197421010: 197421010
29 CRB1 NM_201253.2(CRB1): c.2677-8C> T single nucleotide variant Benign/Likely benign rs73071678 GRCh37 Chromosome 1, 197398571: 197398571
30 CRB1 NM_201253.2(CRB1): c.2677-8C> T single nucleotide variant Benign/Likely benign rs73071678 GRCh38 Chromosome 1, 197429441: 197429441
31 CRB1 NM_201253.2(CRB1): c.1410G> A (p.Leu470=) single nucleotide variant Benign rs3902057 GRCh37 Chromosome 1, 197390368: 197390368
32 CRB1 NM_201253.2(CRB1): c.1410G> A (p.Leu470=) single nucleotide variant Benign rs3902057 GRCh38 Chromosome 1, 197421238: 197421238
33 CRB1 NM_201253.2(CRB1): c.2380C> A (p.His794Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 197427705: 197427705
34 CRB1 NM_201253.2(CRB1): c.2380C> A (p.His794Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 197396835: 197396835
35 CRB1 NM_001257965.1(CRB1): c.2182T> C (p.Ser728Pro) single nucleotide variant Likely pathogenic GRCh37 Chromosome 1, 197396844: 197396844
36 CRB1 NM_001257965.1(CRB1): c.2182T> C (p.Ser728Pro) single nucleotide variant Likely pathogenic GRCh38 Chromosome 1, 197427714: 197427714
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Expression for Leber Congenital Amaurosis 8

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Search GEO for disease gene expression data for Leber Congenital Amaurosis 8.
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Pathways for Leber Congenital Amaurosis 8

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Pathways related to Leber Congenital Amaurosis 8 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Sertoli-Sertoli Cell Junction Dynamics 64
Show member pathways
 12.12 CRB1 CRB3 MPP5
2
Tight junction 37
11.49 CRB3 MPP5
3
Hippo signaling pathway 37
10.99 CRB1 CRB2 MPP5
4
Notch Signaling Pathway (sino) 67
10.5 CRB1 CRB3
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GO Terms for Leber Congenital Amaurosis 8

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Cellular components related to Leber Congenital Amaurosis 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 bicellular tight junction GO:0005923 9.26 CRB3 MPP5
2 cell-cell adherens junction GO:0005913 9.16 CRB1 MPP5
3 apical plasma membrane GO:0016324 9.13 CRB1 CRB2 CRB3
4 protein-containing complex GO:0032991 8.92 CRB1 CRB2 CRB3 MPP5

Biological processes related to Leber Congenital Amaurosis 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein localization to plasma membrane GO:0072659 9.32 CRB3 MPP5
2 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules GO:0007157 9.26 CRB2 CRB3
3 bicellular tight junction assembly GO:0070830 9.16 CRB3 MPP5
4 establishment or maintenance of epithelial cell apical/basal polarity GO:0045197 8.96 CRB2 CRB3
5 plasma membrane organization GO:0007009 8.62 CRB1 MPP5

Molecular functions related to Leber Congenital Amaurosis 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein domain specific binding GO:0019904 8.96 CRB3 MPP5
2 scavenger receptor activity GO:0005044 8.62 CRB2 CRB3
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Sources for Leber Congenital Amaurosis 8

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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