LCA3
MCID: LBR013
MIFTS: 22

Leber Congenital Amaurosis 3 (LCA3) malady

Genetic diseases, Rare diseases, Eye diseases, Neuronal diseases categories
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Summaries for Leber Congenital Amaurosis 3

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MalaCards based summary: Leber Congenital Amaurosis 3, also known as leber congenital amaurosis type 3, is related to leber congenital amaurosis 1 and retinitis pigmentosa autosomal recessive, and has symptoms including An important gene associated with Leber Congenital Amaurosis 3 is SPATA7 (spermatogenesis associated 7).

Description from OMIM:46 604232

Aliases & Classifications for Leber Congenital Amaurosis 3

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Leber Congenital Amaurosis 3, Aliases & Descriptions:

Name: Leber Congenital Amaurosis 3 42 46 62
Leber Congenital Amaurosis Type 3 42 22 62
 
Amaurosis Congenita of Leber, Type 3 42
Lca3 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 3

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Symptoms for Leber Congenital Amaurosis 3

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Clinical features from OMIM:

604232

HPO human phenotypes related to Leber Congenital Amaurosis 3:

id Description Frequency HPO Source Accession
1 visual loss 10% HP:0000572
2 nystagmus 10% HP:0000639
3 night blindness 2% HP:0000662
4 autosomal recessive inheritance HP:0000007
5 constricted visual fields HP:0001133

Drugs & Therapeutics for Leber Congenital Amaurosis 3

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Drug clinical trials:

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Search NIH Clinical Center for Leber Congenital Amaurosis 3

Genetic Tests for Leber Congenital Amaurosis 3

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Genetic tests related to Leber Congenital Amaurosis 3:

id Genetic test Affiliating Genes
1 Leber Congenital Amaurosis 322

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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Clinvar genetic disease variations for Leber Congenital Amaurosis 3:

6
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
5SPATA7SPATA7, 4-BP DEL, 265CTCAdeletionPathogenic
6SPATA7SPATA7, 3-BP DEL, 1227CACdeletionPathogenic
7SPATA7NM_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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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

Sources for Leber Congenital Amaurosis 3

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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