MCID: LBR013
MIFTS: 31

Leber Congenital Amaurosis 3

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

Aliases & Classifications for Leber Congenital Amaurosis 3

MalaCards integrated aliases for Leber Congenital Amaurosis 3:

Name: Leber Congenital Amaurosis 3 57 12 53 75 29 13 6 15 73
Lca3 57 12 53 75
Leber Congenital Amaurosis Type 3 53 73
Retinitis Pigmentosa, Juvenile, Autosomal Recessive 57
Amaurosis Congenita of Leber, Type 3 53
Leber Congenital Amaurosis, Type 3 40

Characteristics:

HPO:

32
leber congenital amaurosis 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 604232
Disease Ontology 12 DOID:0110331
ICD10 33 H35.5
MeSH 44 D057130

Summaries for Leber Congenital Amaurosis 3

OMIM : 57 Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis, whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa (Gu et al., 1997). Mackay et al. (2011) concluded that SPATA7 retinopathy is an infantile-onset severe cone-rod dystrophy with early extensive peripheral retinal atrophy but with variable foveal involvement. For a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis, see LCA1 (204000); for retinitis pigmentosa, see 268000. (604232)

MalaCards based summary : Leber Congenital Amaurosis 3, also known as lca3, is related to severe early-childhood-onset retinal dystrophy and hereditary retinal dystrophy. An important gene associated with Leber Congenital Amaurosis 3 is SPATA7 (Spermatogenesis Associated 7). Affiliated tissues include retina and eye, and related phenotypes are visual loss and nystagmus

Disease Ontology : 12 A Leber congenital amaurosis that has material basis in mutation in the SPATA7 gene on chromosome 14q31.

UniProtKB/Swiss-Prot : 75 Leber congenital amaurosis 3: 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 3

Graphical network of the top 20 diseases related to Leber Congenital Amaurosis 3:



Diseases related to Leber Congenital Amaurosis 3

Symptoms & Phenotypes for Leber Congenital Amaurosis 3

Clinical features from OMIM:

604232

Human phenotypes related to Leber Congenital Amaurosis 3:

32
# Description HPO Frequency HPO Source Accession
1 visual loss 32 very rare (1%) HP:0000572
2 nystagmus 32 very rare (1%) HP:0000639
3 nyctalopia 32 very rare (1%) HP:0000662
4 constriction of peripheral visual field 32 HP:0001133

MGI Mouse Phenotypes related to Leber Congenital Amaurosis 3:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.26 LCA5 RDH12 RPGRIP1 SPATA7
2 vision/eye MP:0005391 8.92 LCA5 RDH12 RPGRIP1 SPATA7

Drugs & Therapeutics for Leber Congenital Amaurosis 3

Search Clinical Trials , NIH Clinical Center for Leber Congenital Amaurosis 3

Genetic Tests for Leber Congenital Amaurosis 3

Genetic tests related to Leber Congenital Amaurosis 3:

# Genetic test Affiliating Genes
1 Leber Congenital Amaurosis 3 29 SPATA7

Anatomical Context for Leber Congenital Amaurosis 3

MalaCards organs/tissues related to Leber Congenital Amaurosis 3:

41
Retina, Eye

Publications for Leber Congenital Amaurosis 3

Variations for Leber Congenital Amaurosis 3

ClinVar genetic disease variations for Leber Congenital Amaurosis 3:

6
(show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 SPATA7 NM_018418.4(SPATA7): c.322C> T (p.Arg108Ter) single nucleotide variant Likely pathogenic rs80044281 GRCh37 Chromosome 14, 88883138: 88883138
2 SPATA7 NM_018418.4(SPATA7): c.322C> T (p.Arg108Ter) single nucleotide variant Likely pathogenic rs80044281 GRCh38 Chromosome 14, 88416794: 88416794
3 SPATA7 NM_018418.4(SPATA7): c.960dupA (p.Pro321Thrfs) duplication Pathogenic rs386834241 GRCh37 Chromosome 14, 88895739: 88895739
4 SPATA7 NM_018418.4(SPATA7): c.960dupA (p.Pro321Thrfs) duplication Pathogenic rs386834241 GRCh38 Chromosome 14, 88429395: 88429395
5 SPATA7 NM_018418.4(SPATA7): c.1183C> T (p.Arg395Ter) single nucleotide variant Pathogenic rs75895925 GRCh37 Chromosome 14, 88903909: 88903909
6 SPATA7 NM_018418.4(SPATA7): c.1183C> T (p.Arg395Ter) single nucleotide variant Pathogenic rs75895925 GRCh38 Chromosome 14, 88437565: 88437565
7 SPATA7 NM_018418.4(SPATA7): c.1395delA (p.Gln465Hisfs) deletion Pathogenic rs386834243 GRCh37 Chromosome 14, 88904361: 88904361
8 SPATA7 NM_018418.4(SPATA7): c.1395delA (p.Gln465Hisfs) deletion Pathogenic rs386834243 GRCh38 Chromosome 14, 88438017: 88438017
9 SPATA7 SPATA7, 4-BP DEL, 265CTCA deletion Pathogenic
10 SPATA7 SPATA7, 3-BP DEL, 1227CAC deletion Pathogenic
11 SPATA7 NM_018418.4(SPATA7): c.253C> T (p.Arg85Ter) single nucleotide variant Pathogenic rs140287375 GRCh37 Chromosome 14, 88883069: 88883069
12 SPATA7 NM_018418.4(SPATA7): c.253C> T (p.Arg85Ter) single nucleotide variant Pathogenic rs140287375 GRCh38 Chromosome 14, 88416725: 88416725
13 SPATA7 NM_018418.4(SPATA7): c.94+2T> C single nucleotide variant Likely pathogenic rs786204787 GRCh37 Chromosome 14, 88857801: 88857801
14 SPATA7 NM_018418.4(SPATA7): c.94+2T> C single nucleotide variant Likely pathogenic rs786204787 GRCh38 Chromosome 14, 88391457: 88391457
15 SPATA7 NM_018418.4(SPATA7): c.815G> A (p.Arg272Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs34682727 GRCh37 Chromosome 14, 88893018: 88893018
16 SPATA7 NM_018418.4(SPATA7): c.815G> A (p.Arg272Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs34682727 GRCh38 Chromosome 14, 88426674: 88426674
17 SPATA7 NM_018418.4(SPATA7): c.1255T> C (p.Leu419=) single nucleotide variant Benign rs112976233 GRCh37 Chromosome 14, 88904221: 88904221
18 SPATA7 NM_018418.4(SPATA7): c.1255T> C (p.Leu419=) single nucleotide variant Benign rs112976233 GRCh38 Chromosome 14, 88437877: 88437877

Expression for Leber Congenital Amaurosis 3

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

Pathways for Leber Congenital Amaurosis 3

GO Terms for Leber Congenital Amaurosis 3

Cellular components related to Leber Congenital Amaurosis 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.33 LCA5 RPGRIP1 SPATA7
2 cilium GO:0005929 9.26 LCA5 RPGRIP1
3 axoneme GO:0005930 8.96 RPGRIP1 SPATA7
4 photoreceptor connecting cilium GO:0032391 8.62 RPGRIP1 SPATA7

Biological processes related to Leber Congenital Amaurosis 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor cell maintenance GO:0045494 9.16 RDH12 SPATA7
2 visual perception GO:0007601 9.13 RDH12 RPGRIP1 SPATA7
3 response to stimulus GO:0050896 8.92 RDH12 RPGRIP1 SPATA7 UGT2A1

Sources for Leber Congenital Amaurosis 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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44 MeSH
45 MESH via Orphanet
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49 NCI
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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