MCID: LBR007
MIFTS: 35

Leber Congenital Amaurosis 12

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

Aliases & Classifications for Leber Congenital Amaurosis 12

MalaCards integrated aliases for Leber Congenital Amaurosis 12:

Name: Leber Congenital Amaurosis 12 57 12 53 75 29 13 6 15 73
Lca12 57 12 53 75
Amaurosis Congenita of Leber, Type 12 53
Leber Congenital Amaurosis, Type 12 40
Leber Congenital Amaurosis Type 12 53

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
funduscopy before 2 years of age is unremarkable


HPO:

32
leber congenital amaurosis 12:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 610612
Disease Ontology 12 DOID:0110080
ICD10 33 H35.5
MedGen 42 C1857743
MeSH 44 D057130
SNOMED-CT via HPO 69 258211005 563001 95486002
UMLS 73 C1857743

Summaries for Leber Congenital Amaurosis 12

UniProtKB/Swiss-Prot : 75 Leber congenital amaurosis 12: 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.

MalaCards based summary : Leber Congenital Amaurosis 12, also known as lca12, is related to leber congenital amaurosis and leber congenital amaurosis 1. An important gene associated with Leber Congenital Amaurosis 12 is RD3 (Retinal Degeneration 3), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Phototransduction. Affiliated tissues include retina, eye and bone, and related phenotypes are nystagmus and congenital blindness

Disease Ontology : 12 A Leber congenital amaurosis that has material basis in mutation in the RD3 gene on chromosome 1q32.

Description from OMIM: 610612

Related Diseases for Leber Congenital Amaurosis 12

Graphical network of the top 20 diseases related to Leber Congenital Amaurosis 12:



Diseases related to Leber Congenital Amaurosis 12

Symptoms & Phenotypes for Leber Congenital Amaurosis 12

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
attenuated vessels
decreased color vision
absence of ocular pursuit since birth
digitoocular sign of franceschetti
progressively decreasing vision to light perception only
more

Clinical features from OMIM:

610612

Human phenotypes related to Leber Congenital Amaurosis 12:

32
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 congenital blindness 32 HP:0007875
3 abnormality of macular pigmentation 32 HP:0008002

MGI Mouse Phenotypes related to Leber Congenital Amaurosis 12:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.35 CEP290 DNAJB12 GUCY2D RD3 RPE65
2 vision/eye MP:0005391 8.92 CEP290 GUCY2D RD3 RPE65

Drugs & Therapeutics for Leber Congenital Amaurosis 12

Search Clinical Trials , NIH Clinical Center for Leber Congenital Amaurosis 12

Genetic Tests for Leber Congenital Amaurosis 12

Genetic tests related to Leber Congenital Amaurosis 12:

# Genetic test Affiliating Genes
1 Leber Congenital Amaurosis 12 29 RD3

Anatomical Context for Leber Congenital Amaurosis 12

MalaCards organs/tissues related to Leber Congenital Amaurosis 12:

41
Retina, Eye, Bone

Publications for Leber Congenital Amaurosis 12

Articles related to Leber Congenital Amaurosis 12:

# Title Authors Year
1
RD3 gene delivery restores guanylate cyclase localization and rescues photoreceptors in the Rd3 mouse model of Leber congenital amaurosis 12. ( 23740938 )
2013

Variations for Leber Congenital Amaurosis 12

ClinVar genetic disease variations for Leber Congenital Amaurosis 12:

6
(show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 RD3 NM_183059.2(RD3): c.296+1G> A single nucleotide variant Pathogenic rs386834260 GRCh37 Chromosome 1, 211654461: 211654461
2 RD3 NM_183059.2(RD3): c.296+1G> A single nucleotide variant Pathogenic rs386834260 GRCh38 Chromosome 1, 211481119: 211481119
3 RD3 NM_183059.2(RD3): c.180C> A (p.Tyr60Ter) single nucleotide variant Pathogenic rs762631020 GRCh37 Chromosome 1, 211654578: 211654578
4 RD3 NM_183059.2(RD3): c.180C> A (p.Tyr60Ter) single nucleotide variant Pathogenic rs762631020 GRCh38 Chromosome 1, 211481236: 211481236
5 RD3 NM_183059.2(RD3): c.112C> T (p.Arg38Ter) single nucleotide variant Pathogenic rs786205148 GRCh37 Chromosome 1, 211654646: 211654646
6 RD3 NM_183059.2(RD3): c.112C> T (p.Arg38Ter) single nucleotide variant Pathogenic rs786205148 GRCh38 Chromosome 1, 211481304: 211481304
7 RD3 NM_183059.2(RD3): c.137_138delAG (p.Glu46Alafs) deletion Pathogenic rs786205149 GRCh37 Chromosome 1, 211654620: 211654621
8 RD3 NM_183059.2(RD3): c.137_138delAG (p.Glu46Alafs) deletion Pathogenic rs786205149 GRCh38 Chromosome 1, 211481278: 211481279
9 RD3 NM_183059.2(RD3): c.136G> T (p.Glu46Ter) single nucleotide variant Pathogenic rs786205150 GRCh37 Chromosome 1, 211654622: 211654622
10 RD3 NM_183059.2(RD3): c.136G> T (p.Glu46Ter) single nucleotide variant Pathogenic rs786205150 GRCh38 Chromosome 1, 211481280: 211481280
11 RD3 NM_183059.2(RD3): c.584A> T (p.Asp195Val) single nucleotide variant Benign/Likely benign rs143207434 GRCh37 Chromosome 1, 211652382: 211652382
12 RD3 NM_183059.2(RD3): c.584A> T (p.Asp195Val) single nucleotide variant Benign/Likely benign rs143207434 GRCh38 Chromosome 1, 211479040: 211479040
13 RD3 NM_183059.2(RD3): c.202C> T (p.Arg68Trp) single nucleotide variant Uncertain significance rs144697496 GRCh37 Chromosome 1, 211654556: 211654556
14 RD3 NM_183059.2(RD3): c.202C> T (p.Arg68Trp) single nucleotide variant Uncertain significance rs144697496 GRCh38 Chromosome 1, 211481214: 211481214

Expression for Leber Congenital Amaurosis 12

Search GEO for disease gene expression data for Leber Congenital Amaurosis 12.

Pathways for Leber Congenital Amaurosis 12

GO Terms for Leber Congenital Amaurosis 12

Biological processes related to Leber Congenital Amaurosis 12 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.33 GUCY2D RD3 RPE65
2 retina development in camera-type eye GO:0060041 8.96 RD3 RPE65
3 visual perception GO:0007601 8.8 GUCY2D RD3 RPE65

Sources for Leber Congenital Amaurosis 12

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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