MCID: LBR018
MIFTS: 29

Leber Congenital Amaurosis 8

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

Aliases & Classifications for Leber Congenital Amaurosis 8

MalaCards integrated aliases for Leber Congenital Amaurosis 8:

Name: Leber Congenital Amaurosis 8 53 12 49 71 28 13 14 69
Lca8 53 12 49 71

Characteristics:

HPO:

31
leber congenital amaurosis 8:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 613835
Disease Ontology 12 DOID:0110079
ICD10 32 H35.5
MedGen 39 C3151202
MeSH 41 D057130
UMLS 69 C3151202

Summaries for Leber Congenital Amaurosis 8

OMIM : 53 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, and has symptoms including visual impairment, cataract and undetectable electroretinogram. 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.

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 : 71 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.

Related Diseases for Leber Congenital Amaurosis 8

Symptoms & Phenotypes for Leber Congenital Amaurosis 8

Clinical features from OMIM:

613835

Human phenotypes related to Leber Congenital Amaurosis 8:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 visual impairment 31 HP:0000505
2 cataract 31 HP:0000518
3 undetectable electroretinogram 31 HP:0000550
4 keratoconus 31 HP:0000563
5 high hypermetropia 31 HP:0008499
6 pendular nystagmus 31 HP:0012043

Drugs & Therapeutics for Leber Congenital Amaurosis 8

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

Genetic Tests for Leber Congenital Amaurosis 8

Genetic tests related to Leber Congenital Amaurosis 8:

# Genetic test Affiliating Genes
1 Leber Congenital Amaurosis 8 28 CRB1

Anatomical Context for Leber Congenital Amaurosis 8

MalaCards organs/tissues related to Leber Congenital Amaurosis 8:

38
Retina, Eye

Publications for Leber Congenital Amaurosis 8

Variations for Leber Congenital Amaurosis 8

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

71 (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 13)
# Gene Variation Type Significance SNP ID Assembly Location
1 CRB1 NM_201253.2(CRB1): c.2843G> A (p.Cys948Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs62645748 GRCh37 Chromosome 1, 197403836: 197403836
2 CRB1 NM_201253.2(CRB1): c.2555T> C (p.Ile852Thr) single nucleotide variant Pathogenic rs62636271 GRCh37 Chromosome 1, 197397010: 197397010
3 CRB1 NM_201253.2(CRB1): c.2688T> A (p.Cys896Ter) single nucleotide variant Pathogenic rs62636273 GRCh37 Chromosome 1, 197398590: 197398590
4 CRB1 NM_201253.2(CRB1): c.1576C> T (p.Arg526Ter) single nucleotide variant Pathogenic rs114342808 GRCh37 Chromosome 1, 197390534: 197390534
5 CRB1 NM_201253.2(CRB1): c.998G> A (p.Gly333Asp) single nucleotide variant Pathogenic rs587783015 GRCh38 Chromosome 1, 197356840: 197356840
6 CRB1 NM_201253.2(CRB1): c.3383delT (p.Ile1128Thrfs) deletion Pathogenic rs794727980 GRCh37 Chromosome 1, 197404376: 197404376
7 CRB1 NM_201253.2(CRB1): c.3299T> G (p.Ile1100Arg) single nucleotide variant Pathogenic rs62635659 GRCh37 Chromosome 1, 197404292: 197404292
8 CRB1 NM_201253.2(CRB1): c.3997G> T (p.Glu1333Ter) single nucleotide variant Pathogenic rs137853136 GRCh37 Chromosome 1, 197411414: 197411414
9 CRB1 NM_201253.2(CRB1): c.2401A> T (p.Lys801Ter) single nucleotide variant Pathogenic rs137853137 GRCh37 Chromosome 1, 197396856: 197396856
10 CRB1 NM_201253.2(CRB1): c.3307G> A (p.Gly1103Arg) single nucleotide variant Pathogenic rs62636275 GRCh37 Chromosome 1, 197404300: 197404300
11 CRB1 NM_201253.2(CRB1): c.4121_4130delCAACTCAGGG (p.Ala1374Glufs) deletion Pathogenic rs281865175 GRCh37 Chromosome 1, 197446909: 197446918
12 CRB1 NM_201253.2(CRB1): c.1043G> A (p.Cys348Tyr) single nucleotide variant Likely pathogenic rs886039871 GRCh37 Chromosome 1, 197326015: 197326015
13 CRB1 NM_201253.2(CRB1): c.1182C> A (p.Cys394Ter) single nucleotide variant Pathogenic rs115352681 GRCh37 Chromosome 1, 197390140: 197390140

Expression for Leber Congenital Amaurosis 8

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

Pathways for Leber Congenital Amaurosis 8

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.12 CRB1 CRB3 MPP5
2 11.49 CRB3 MPP5
3 10.99 CRB1 CRB2 MPP5
4 10.49 CRB1 CRB3

GO Terms for Leber Congenital Amaurosis 8

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 complex GO:0043234 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 9.16 CRB3 MPP5
2 bicellular tight junction assembly GO:0070830 8.96 CRB3 MPP5
3 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 8.62 CRB3 MPP5

Sources for Leber Congenital Amaurosis 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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