LCA8
MCID: LBR018
MIFTS: 20

Leber Congenital Amaurosis 8 (LCA8) malady

Genetic diseases, Rare diseases, Eye diseases, Neuronal diseases categories
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Summaries for Leber Congenital Amaurosis 8

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MalaCards based summary: Leber Congenital Amaurosis 8, also known as LCA8, is related to leber congenital amaurosis 1, and has symptoms including An important gene associated with Leber Congenital Amaurosis 8 is CRB1 (crumbs family member 1, photoreceptor morphogenesis associated).

Description from OMIM:46 613835

Aliases & Classifications for Leber Congenital Amaurosis 8

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Leber Congenital Amaurosis 8, Aliases & Descriptions:

Name: Leber Congenital Amaurosis 8 42 22 46 62
 
Lca8 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases, Neuronal diseases


Related Diseases for Leber Congenital Amaurosis 8

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Symptoms for Leber Congenital Amaurosis 8

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Clinical features from OMIM:

613835

HPO human phenotypes related to Leber Congenital Amaurosis 8:

(show all 7)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 visual impairment HP:0000505
3 cataract HP:0000518
4 abolished electroretinogram (erg) HP:0000550
5 keratoconus HP:0000563
6 high-grade hypermetropia HP:0008499
7 pendular nystagmus HP:0012043

Drugs & Therapeutics for Leber Congenital Amaurosis 8

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Drug clinical trials:

Search ClinicalTrials for Leber Congenital Amaurosis 8

Search NIH Clinical Center for Leber Congenital Amaurosis 8

Genetic Tests for Leber Congenital Amaurosis 8

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Genetic tests related to Leber Congenital Amaurosis 8:

id Genetic test Affiliating Genes
1 Leber Congenital Amaurosis 822

Anatomical Context for Leber Congenital Amaurosis 8

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Animal Models for Leber Congenital Amaurosis 8 or affiliated genes

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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:

64 (show all 35)
id Symbol AA change Variation ID SNP ID
1CRB1p.Thr745MetVAR_011643rs28939720
2CRB1p.Arg764CysVAR_011644
3CRB1p.Cys948TyrVAR_011645
4CRB1p.Ile1100ArgVAR_011648
5CRB1p.Phe144ValVAR_022941rs62636262
6CRB1p.Cys383TyrVAR_022946
7CRB1p.Cys480GlyVAR_022948
8CRB1p.Cys480ArgVAR_022949
9CRB1p.Asp584TyrVAR_022951
10CRB1p.Cys681TyrVAR_022954
11CRB1p.Glu710GlnVAR_022955
12CRB1p.Met741ThrVAR_022956
13CRB1p.Gly850SerVAR_022963
14CRB1p.Ile852ThrVAR_022964
15CRB1p.Ile989ThrVAR_022971
16CRB1p.Ser1025IleVAR_022972
17CRB1p.Gly1103ArgVAR_022974
18CRB1p.Leu1107ProVAR_022975
19CRB1p.Leu1107ArgVAR_022976
20CRB1p.Gly1205ArgVAR_022977
21CRB1p.Cys1218PheVAR_022978
22CRB1p.Asn1317HisVAR_022979
23CRB1p.Cys1321SerVAR_022980
24CRB1p.Gly333AspVAR_067131
25CRB1p.Cys438TyrVAR_067132
26CRB1p.Gly454ArgVAR_067133
27CRB1p.Leu535ProVAR_067136
28CRB1p.Asp564TyrVAR_067137
29CRB1p.Leu753ProVAR_067142
30CRB1p.Cys939TyrVAR_067147
31CRB1p.Ile1003ThrVAR_067148
32CRB1p.Tyr1161CysVAR_067152
33CRB1p.Cys1174GlyVAR_067153
34CRB1p.Cys1332PheVAR_067157
35CRB1p.Pro1381LeuVAR_067159

Clinvar genetic disease variations for Leber Congenital Amaurosis 8:

6
id Gene Name Type Significance SNP ID Assembly Location
1CRB1NM_201253.2(CRB1): c.2843G> A (p.Cys948Tyr)single nucleotide variantPathogenicrs62645748GRCh37Chr 1, 197403836: 197403836
2CRB1NM_201253.2(CRB1): c.3299T> G (p.Ile1100Arg)single nucleotide variantPathogenicrs62635659GRCh37Chr 1, 197404292: 197404292
3CRB1NM_201253.2(CRB1): c.3997G> T (p.Glu1333Ter)single nucleotide variantPathogenicrs137853136GRCh37Chr 1, 197411414: 197411414
4CRB1NM_201253.2(CRB1): c.3307G> A (p.Gly1103Arg)single nucleotide variantPathogenicrs62636275GRCh37Chr 1, 197404300: 197404300
5CRB1CRB1, 10-BP DEL, NT4121deletionPathogenic

Expression for genes affiliated with Leber Congenital Amaurosis 8

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Expression patterns in normal tissues for genes affiliated with Leber Congenital Amaurosis 8

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

Pathways for genes affiliated with Leber Congenital Amaurosis 8

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Compounds for genes affiliated with Leber Congenital Amaurosis 8

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GO Terms for genes affiliated with Leber Congenital Amaurosis 8

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Products for genes affiliated with Leber Congenital Amaurosis 8

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  • Antibodies
  • Proteins
  • Lysates

Sources for Leber Congenital Amaurosis 8

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet