LCA3
MCID: LBR013
MIFTS: 25

Leber Congenital Amaurosis 3 (LCA3) malady

Genetic diseases, Rare diseases, Eye diseases, Neuronal diseases categories

Summaries for Leber Congenital Amaurosis 3

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48OMIM, 34MalaCards
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MalaCards: Leber Congenital Amaurosis 3, also known as leber congenital amaurosis type 3, is related to gucy2d-related leber congenital amaurosis and rpe65-related leber congenital amaurosis. An important gene associated with Leber Congenital Amaurosis 3 is SPATA7 (spermatogenesis associated 7).

Description from OMIM:48 604232

Aliases & Classifications for Leber Congenital Amaurosis 3

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Sources:
44NIH Rare Diseases, 48OMIM, 63UMLS, 23GTR
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Classifications:

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


Aliases & Descriptions:

leber congenital amaurosis 3 44 48 63
leber congenital amaurosis type 3 44 23 63
amaurosis congenita of leber, type 3 44
lca3 44


Related Diseases for Leber Congenital Amaurosis 3

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Sources:
18GeneCards, 19GeneDecks
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Diseases in the Leber Congenital Amaurosis family:

Leber Congenital Amaurosis 1 Leber Congenital Amaurosis 10
Leber Congenital Amaurosis 11 Leber Congenital Amaurosis 12
Leber Congenital Amaurosis 15 Leber Congenital Amaurosis 16
Leber Congenital Amaurosis 2 leber congenital amaurosis 3
Leber Congenital Amaurosis 4 Leber Congenital Amaurosis 5
Leber Congenital Amaurosis 6 Leber Congenital Amaurosis 7
Leber Congenital Amaurosis 8 Leber Congenital Amaurosis 9
Gucy2d-Related Leber Congenital Amaurosis Rpe65-Related Leber Congenital Amaurosis
Rdh12-Related Leber Congenital Amaurosis Aipl1-Related Leber Congenital Amaurosis
Lca5-Related Leber Congenital Amaurosis Rpgrip1-Related Leber Congenital Amaurosis
Crb1-Related Leber Congenital Amaurosis Crx-Related Leber Congenital Amaurosis
Nmnat1-Related Leber Congenital Amaurosis Cep290-Related Leber Congenital Amaurosis
Impdh1-Related Leber Congenital Amaurosis Rd3-Related Leber Congenital Amaurosis
Spata7-Related Leber Congenital Amaurosis Tulp1-Related Leber Congenital Amaurosis
Lrat-Related Leber Congenital Amaurosis Kcnj13-Related Leber Congenital Amaurosis
Iqcb1-Related Leber Congenital Amaurosis Leber Congenital Amaurosis 17

Diseases related to Leber Congenital Amaurosis 3 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 18)
idRelated DiseaseScoreTop Affiliating Genes
1gucy2d-related leber congenital amaurosis10.3
2rpe65-related leber congenital amaurosis10.3
3rdh12-related leber congenital amaurosis10.3
4aipl1-related leber congenital amaurosis10.3
5lca5-related leber congenital amaurosis10.3
6rpgrip1-related leber congenital amaurosis10.3
7crb1-related leber congenital amaurosis10.3
8crx-related leber congenital amaurosis10.3
9cep290-related leber congenital amaurosis10.3
10impdh1-related leber congenital amaurosis10.3
11rd3-related leber congenital amaurosis10.3
12spata7-related leber congenital amaurosis10.3
13tulp1-related leber congenital amaurosis10.3
14lrat-related leber congenital amaurosis10.3
15kcnj13-related leber congenital amaurosis10.3
16iqcb1-related leber congenital amaurosis10.3
17leber congenital amaurosis 110.1
18retinitis pigmentosa autosomal recessive10.1

Graphical network of diseases related to Leber Congenital Amaurosis 3:



Diseases related to leber congenital amaurosis 3

Symptoms for Leber Congenital Amaurosis 3

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Sources:
48OMIM
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Clinical features from OMIM:

604232

Drugs & Therapeutics for Leber Congenital Amaurosis 3

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Leber Congenital Amaurosis 3

Drug clinical trials:

Search ClinicalTrials for Leber Congenital Amaurosis 3

Search NIH Clinical Center for Leber Congenital Amaurosis 3

Search CenterWatch for Leber Congenital Amaurosis 3

Genetic Tests for Leber Congenital Amaurosis 3

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23GTR
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Genetic tests related to Leber Congenital Amaurosis 3:

id Genetic test Affiliating Genes
1 Leber Congenital Amaurosis 323

Anatomical Context for Leber Congenital Amaurosis 3

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Animal Models for Leber Congenital Amaurosis 3 or affiliated genes

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Publications for Leber Congenital Amaurosis 3

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Variations for Leber Congenital Amaurosis 3

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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Leber Congenital Amaurosis 3:

1
id Gene Name Type Significance SNP ID Assembly Location
1SPATA7NM_018418.4(SPATA7): c.322C> T (p.Arg108Ter)single nucleotide variantPathogenicrs80044281GRCh37Chr 14, 88883138: 88883138
2SPATA7NM_018418.4(SPATA7): c.960dupA (p.Pro321Thrfs)duplicationPathogenicrs386834241GRCh37Chr 14, 88895739: 88895739
3SPATA7NM_018418.4(SPATA7): c.1183C> T (p.Arg395Ter)single nucleotide variantPathogenicrs75895925GRCh37Chr 14, 88903909: 88903909
4SPATA7NM_018418.4(SPATA7): c.1395delA (p.Gln465Hisfs)deletionPathogenicrs386834243GRCh37Chr 14, 88904361: 88904361
5SPATA7NM_018418.4(SPATA7): c.253C> T (p.Arg85Ter)single nucleotide variantPathogenicrs140287375GRCh37Chr 14, 88883069: 88883069

Expression for genes affiliated with Leber Congenital Amaurosis 3

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Leber Congenital Amaurosis 3

Search GEO for disease gene expression data for Leber Congenital Amaurosis 3.

Pathways for genes affiliated with Leber Congenital Amaurosis 3

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Compounds for genes affiliated with Leber Congenital Amaurosis 3

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GO Terms for genes affiliated with Leber Congenital Amaurosis 3

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Products for genes affiliated with Leber Congenital Amaurosis 3

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Leber Congenital Amaurosis 3

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet