MCID: LBR018
MIFTS: 25

Leber Congenital Amaurosis 8 malady

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

Aliases & Classifications for Leber Congenital Amaurosis 8

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Aliases & Descriptions for Leber Congenital Amaurosis 8:

Name: Leber Congenital Amaurosis 8 52 11 48 70 27 12 68
 
Lca8 11 48 70

Characteristics:

HPO:

64
leber congenital amaurosis 8:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 613835
Disease Ontology11 DOID:0110079
ICD1030 H35.5
MedGen37 C3151202
MeSH39 D057130

Summaries for Leber Congenital Amaurosis 8

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OMIM:52 Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss,... (613835) more...

MalaCards based summary: Leber Congenital Amaurosis 8, also known as lca8, is related to leber congenital amaurosis 1, 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). Affiliated tissues include retina and eye.

Disease Ontology:11 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:70 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

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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:

 64 (show all 6)
id Description HPO Frequency HPO Source Accession
1 visual impairment64 HP:0000505
2 cataract64 HP:0000518
3 undetectable electroretinogram64 HP:0000550
4 keratoconus64 HP:0000563
5 high-grade hypermetropia64 HP:0008499
6 pendular nystagmus64 HP:0012043

Drugs & Therapeutics for Leber Congenital Amaurosis 8

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Clinical Trial of Gene Therapy for Leber Congenital Amaurosis Caused by RPE65 MutationsUnknown statusNCT00821340Phase 1
2Phase I Trial of Gene Vector to Patients With Retinal Disease Due to RPE65 MutationsActive, not recruitingNCT00481546Phase 1
3Genetic Study of Patients Suffering From Congenital Amaurosis of Leber or From an Early Severe Retinal DystrophyCompletedNCT00422721

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 827

Anatomical Context for Leber Congenital Amaurosis 8

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MalaCards organs/tissues related to Leber Congenital Amaurosis 8:

36
Retina, Eye

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:

70 (show all 35)
id Symbol AA change Variation ID SNP ID
1CRB1p.Thr745MetVAR_011643rs28939720
2CRB1p.Arg764CysVAR_011644rs62635654
3CRB1p.Cys948TyrVAR_011645rs62645748
4CRB1p.Ile1100ArgVAR_011648rs62635659
5CRB1p.Phe144ValVAR_022941rs62636262
6CRB1p.Cys383TyrVAR_022946rs62645754
7CRB1p.Cys480GlyVAR_022948
8CRB1p.Cys480ArgVAR_022949rs62636264
9CRB1p.Asp584TyrVAR_022951
10CRB1p.Cys681TyrVAR_022954rs62636266
11CRB1p.Glu710GlnVAR_022955rs62645755
12CRB1p.Met741ThrVAR_022956rs62636267
13CRB1p.Gly850SerVAR_022963rs776591659
14CRB1p.Ile852ThrVAR_022964rs62636271
15CRB1p.Ile989ThrVAR_022971
16CRB1p.Ser1025IleVAR_022972rs62636274
17CRB1p.Gly1103ArgVAR_022974rs62636275
18CRB1p.Leu1107ProVAR_022975rs62636276
19CRB1p.Leu1107ArgVAR_022976rs62636276
20CRB1p.Gly1205ArgVAR_022977rs574742644
21CRB1p.Cys1218PheVAR_022978
22CRB1p.Asn1317HisVAR_022979rs62636281
23CRB1p.Cys1321SerVAR_022980rs62635649
24CRB1p.Gly333AspVAR_067131rs587783015
25CRB1p.Cys438TyrVAR_067132
26CRB1p.Gly454ArgVAR_067133
27CRB1p.Leu535ProVAR_067136rs113082791
28CRB1p.Asp564TyrVAR_067137
29CRB1p.Leu753ProVAR_067142
30CRB1p.Cys939TyrVAR_067147
31CRB1p.Ile1003ThrVAR_067148
32CRB1p.Tyr1161CysVAR_067152
33CRB1p.Cys1174GlyVAR_067153
34CRB1p.Cys1332PheVAR_067157rs377543137
35CRB1p.Pro1381LeuVAR_067159

Clinvar genetic disease variations for Leber Congenital Amaurosis 8:

5 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1CRB1NM_201253.2(CRB1): c.1576C> T (p.Arg526Ter)SNVPathogenicrs114342808GRCh37Chr 1, 197390534: 197390534
2CRB1NM_201253.2(CRB1): c.998G> A (p.Gly333Asp)SNVPathogenicrs587783015GRCh38Chr 1, 197356840: 197356840
3CRB1NM_201253.2(CRB1): c.3383delT (p.Ile1128Thrfs)deletionPathogenicrs794727980GRCh37Chr 1, 197404376: 197404376
4CRB1NM_201253.2(CRB1): c.1043G> A (p.Cys348Tyr)SNVLikely pathogenicrs886039871GRCh37Chr 1, 197326015: 197326015
5CRB1NM_201253.2(CRB1): c.1182C> A (p.Cys394Ter)SNVPathogenicrs115352681GRCh37Chr 1, 197390140: 197390140
6CRB1NM_201253.2(CRB1): c.2843G> A (p.Cys948Tyr)SNVPathogenicrs62645748GRCh37Chr 1, 197403836: 197403836
7CRB1NM_201253.2(CRB1): c.3299T> G (p.Ile1100Arg)SNVPathogenicrs62635659GRCh37Chr 1, 197404292: 197404292
8CRB1NM_201253.2(CRB1): c.3997G> T (p.Glu1333Ter)SNVPathogenicrs137853136GRCh37Chr 1, 197411414: 197411414
9CRB1NM_201253.2(CRB1): c.2401A> T (p.Lys801Ter)SNVPathogenicrs137853137GRCh37Chr 1, 197396856: 197396856
10CRB1NM_201253.2(CRB1): c.3307G> A (p.Gly1103Arg)SNVPathogenicrs62636275GRCh37Chr 1, 197404300: 197404300
11CRB1NM_201253.2(CRB1): c.4121_4130delCAACTCAGGG (p.Ala1374Glufs)deletionPathogenicrs281865175GRCh37Chr 1, 197446909: 197446918
12CRB1NM_201253.2(CRB1): c.2688T> A (p.Cys896Ter)SNVPathogenicrs62636273GRCh37Chr 1, 197398590: 197398590

Expression for genes affiliated with Leber Congenital Amaurosis 8

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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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GO Terms for genes affiliated with Leber Congenital Amaurosis 8

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Sources for Leber Congenital Amaurosis 8

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet