LCA12
MCID: LBR007
MIFTS: 37

Leber Congenital Amaurosis 12 (LCA12)

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

Aliases & Classifications for Leber Congenital Amaurosis 12

MalaCards integrated aliases for Leber Congenital Amaurosis 12:

Name: Leber Congenital Amaurosis 12 57 12 53 74 29 13 6 15 72
Lca12 57 12 53 74
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:

Disease Ontology 12 DOID:0110080
MeSH 44 D057130
ICD10 33 H35.5
MedGen 42 C1857743
UMLS 72 C1857743

Summaries for Leber Congenital Amaurosis 12

UniProtKB/Swiss-Prot : 74 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 1 and leber congenital amaurosis. An important gene associated with Leber Congenital Amaurosis 12 is RD3 (Retinal Degeneration 3, GUCY2D Regulator), 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 abnormality of macular pigmentation

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

More information from OMIM: 610612 PS204000

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

Human phenotypes related to Leber Congenital Amaurosis 12:

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

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

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:

(show all 17)
# Title Authors PMID Year
1
Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype. 38 8 71
23308101 2013
2
Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy. 38 8 71
22531706 2012
3
Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration. 8 71
17186464 2006
4
Leber Congenital Amaurosis 38 71
20301475 2004
5
Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview 71
30285347 2018
6
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. 71
23105016 2013
7
Genetics and molecular basis of human peroxisome biogenesis disorders. 71
22871920 2012
8
Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotype. 71
10384394 1999
9
Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. 71
9398847 1997
10
Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders. 71
9398848 1997
11
Control of the Nucleotide Cycle in Photoreceptor Cell Extracts by Retinal Degeneration Protein 3. 38
29515371 2018
12
Mouse Models as Tools to Identify Genetic Pathways for Retinal Degeneration, as Exemplified by Leber's Congenital Amaurosis. 38
27150101 2016
13
Insights into the role of RD3 in guanylate cyclase trafficking, photoreceptor degeneration, and Leber congenital amaurosis. 38
24904271 2014
14
RD3 gene delivery restores guanylate cyclase localization and rescues photoreceptors in the Rd3 mouse model of Leber congenital amaurosis 12. 38
23740938 2013
15
RD3: a challenge and a promise. 38
25679013 2013
16
Retinal degeneration 3 (RD3) protein inhibits catalytic activity of retinal membrane guanylyl cyclase (RetGC) and its stimulation by activating proteins. 38
21928830 2011
17
RD3, the protein associated with Leber congenital amaurosis type 12, is required for guanylate cyclase trafficking in photoreceptor cells. 38
21078983 2010

Variations for Leber Congenital Amaurosis 12

ClinVar genetic disease variations for Leber Congenital Amaurosis 12:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 RD3 NM_183059.2(RD3): c.296+1G> A single nucleotide variant Pathogenic rs386834260 1:211654461-211654461 1:211481119-211481119
2 RD3 NM_183059.2(RD3): c.180C> A (p.Tyr60Ter) single nucleotide variant Pathogenic rs762631020 1:211654578-211654578 1:211481236-211481236
3 RD3 NM_183059.2(RD3): c.112C> T (p.Arg38Ter) single nucleotide variant Pathogenic rs786205148 1:211654646-211654646 1:211481304-211481304
4 RD3 NM_183059.2(RD3): c.137_138del (p.Glu46fs) deletion Pathogenic rs786205149 1:211654620-211654621 1:211481278-211481279
5 RD3 NM_183059.2(RD3): c.136G> T (p.Glu46Ter) single nucleotide variant Pathogenic rs786205150 1:211654622-211654622 1:211481280-211481280
6 RD3 NM_183059.2(RD3): c.202C> T (p.Arg68Trp) single nucleotide variant Uncertain significance rs144697496 1:211654556-211654556 1:211481214-211481214
7 RD3 NM_183059.2(RD3): c.584A> T (p.Asp195Val) single nucleotide variant Benign/Likely benign rs143207434 1:211652382-211652382 1:211479040-211479040

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 RPE65 RD3 GUCY2D
2 retina development in camera-type eye GO:0060041 8.96 RPE65 RD3
3 visual perception GO:0007601 8.8 RPE65 RD3 GUCY2D

Sources for Leber Congenital Amaurosis 12

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....