LCA12
MCID: LBR007
MIFTS: 40

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 56 12 52 73 29 13 6 15 71
Lca12 56 12 52 73
Amaurosis Congenita of Leber, Type 12 52
Leber Congenital Amaurosis, Type 12 39
Leber Congenital Amaurosis Type 12 52

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
funduscopy before 2 years of age is unremarkable


HPO:

31
leber congenital amaurosis 12:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110080
OMIM 56 610612
OMIM Phenotypic Series 56 PS204000
MeSH 43 D057130
ICD10 32 H35.5
MedGen 41 C1857743
SNOMED-CT via HPO 68 258211005 563001 95486002
UMLS 71 C1857743

Summaries for Leber Congenital Amaurosis 12

UniProtKB/Swiss-Prot : 73 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 yemenite deaf-blind hypopigmentation syndrome and retinal degeneration. 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

Diseases in the Leber Congenital Amaurosis family:

Leber Congenital Amaurosis 1 Leber Congenital Amaurosis 2
Leber Congenital Amaurosis 3 Leber Congenital Amaurosis 4
Leber Congenital Amaurosis 5 Leber Congenital Amaurosis 9
Leber Congenital Amaurosis 12 Leber Congenital Amaurosis 10
Leber Congenital Amaurosis 13 Leber Congenital Amaurosis 14
Leber Congenital Amaurosis 6 Leber Congenital Amaurosis 7
Leber Congenital Amaurosis 8 Leber Congenital Amaurosis 11
Leber Congenital Amaurosis 15 Leber Congenital Amaurosis 16
Leber Congenital Amaurosis 17 Leber Congenital Amaurosis 19

Diseases related to Leber Congenital Amaurosis 12 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 54, show less)
# Related Disease Score Top Affiliating Genes
1 yemenite deaf-blind hypopigmentation syndrome 30.0 RPE65 GUCY2D AIPL1
2 retinal degeneration 26.4 SPATA7 RPE65 RDH12 RD3 NMNAT1 IMPDH1
3 leber congenital amaurosis 1 26.0 SPATA7 RPE65 RDH12 RD3 NMNAT1 LCA5
4 leber congenital amaurosis 26.0 SPATA7 RPE65 RDH12 RD3 NMNAT1 LCA5
5 bardet-biedl syndrome 4 10.0 GUCA1B GUCA1A
6 retinitis pigmentosa 51 10.0 RD3 NMNAT1
7 cone-rod dystrophy 12 10.0 GUCY2D GUCA1A AIPL1
8 choroid disease 10.0 RPE65 GUCY2D
9 leber congenital amaurosis / early-onset severe retinal dystrophy 10.0 RPE65 AIPL1
10 cone-rod dystrophy 8 10.0 LCA5 GUCY2D AIPL1
11 partial central choroid dystrophy 9.9 GUCY2D GUCA1B GUCA1A
12 hereditary choroidal atrophy 9.9 GUCY2D GUCA1B GUCA1A
13 scotoma 9.9 RPE65 GUCY2D
14 retinitis pigmentosa 7 9.9 GUCA1B GUCA1A
15 severe early-childhood-onset retinal dystrophy 9.8 SPATA7 RPE65 LCA5
16 cone dystrophy 9.8 RPE65 GUCY2D GUCA1A
17 color blindness 9.8 RPE65 GUCY2D AIPL1
18 leber congenital amaurosis 16 9.7 SPATA7 LCA5 GUCY2D AIPL1
19 enhanced s-cone syndrome 9.7 RPE65 AIPL1
20 retinitis pigmentosa 63 9.7 IMPDH1 GUCA1B
21 retinoschisis 1, x-linked, juvenile 9.6 RPE65 AIPL1
22 leber congenital amaurosis 13 9.5 SPATA7 RDH12 LCA5 AIPL1
23 hereditary retinal dystrophy 9.4 SPATA7 RPE65 RDH12 GUCY2D
24 usher syndrome 9.4 RPE65 RDH12 LCA5 GUCA1A
25 pseudopapilledema 9.4 RPE65 RDH12 GUCY2D AIPL1
26 cone-rod dystrophy 6 9.4 RPE65 RD3 GUCY2D GUCA1B GUCA1A
27 inherited retinal disorder 9.4 RPE65 RDH12 LCA5 GUCY2D
28 choroidal dystrophy, central areolar, 1 9.1 SPATA7 RPE65 GUCY2D GUCA1B GUCA1A AIPL1
29 eye disease 9.1 RPE65 RDH12 GUCY2D GUCA1A AIPL1
30 cone-rod dystrophy 2 9.0 RPE65 RD3 NMNAT1 GUCY2D GUCA1A AIPL1
31 stargardt disease 8.9 RPE65 RDH12 LCA5 GUCY2D GUCA1A AIPL1
32 leber congenital amaurosis 5 8.7 SPATA7 RDH12 RD3 LCA5 IMPDH1 AIPL1
33 leber congenital amaurosis 11 8.7 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D AIPL1
34 leber congenital amaurosis 8 8.7 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D AIPL1
35 leber congenital amaurosis 7 8.7 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D AIPL1
36 usher syndrome, type iiia 8.7 RPE65 RDH12 LCA5 IMPDH1 AIPL1
37 leber congenital amaurosis 6 8.7 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D AIPL1
38 congenital stationary night blindness 8.6 RPE65 RDH12 LCA5 GUCY2D GUCA1B GUCA1A
39 leber congenital amaurosis 15 8.5 SPATA7 RDH12 NMNAT1 LCA5 IMPDH1 AIPL1
40 leber congenital amaurosis 14 8.5 SPATA7 RDH12 NMNAT1 LCA5 IMPDH1 AIPL1
41 achromatopsia 8.4 SPATA7 RPE65 RDH12 RD3 NMNAT1 GUCY2D
42 leber congenital amaurosis 10 8.3 SPATA7 RPE65 RDH12 LCA5 IMPDH1 GUCY2D
43 senior-loken syndrome 1 8.3 SPATA7 RPE65 RDH12 LCA5 IMPDH1 GUCY2D
44 bardet-biedl syndrome 8.2 SPATA7 RPE65 RDH12 LCA5 IMPDH1 GUCY2D
45 retinal disease 8.2 RPE65 RDH12 IMPDH1 GUCY2D GUCA1B GUCA1A
46 leber congenital amaurosis 4 8.1 SPATA7 RPE65 RDH12 RD3 LCA5 IMPDH1
47 leber congenital amaurosis 3 8.1 SPATA7 RPE65 RDH12 RD3 LCA5 IMPDH1
48 leber congenital amaurosis 2 8.1 SPATA7 RPE65 RDH12 RD3 LCA5 IMPDH1
49 joubert syndrome 1 8.1 SPATA7 RPE65 RDH12 RD3 LCA5 IMPDH1
50 pathologic nystagmus 7.9 SPATA7 RPE65 RDH12 NMNAT1 LCA5 IMPDH1
51 leber congenital amaurosis 9 7.9 SPATA7 RPE65 RDH12 NMNAT1 LCA5 IMPDH1
52 keratoconus 7.7 SPATA7 RPE65 RDH12 RD3 NMNAT1 LCA5
53 fundus dystrophy 7.1 SPATA7 RPE65 RDH12 RD3 NMNAT1 LCA5
54 retinitis pigmentosa 7.1 SPATA7 RPE65 RDH12 RD3 NMNAT1 LCA5

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:

31 (showing 3, show less)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 HP:0000639
2 abnormality of macular pigmentation 31 HP:0008002
3 congenital blindness 31 HP:0007875

Symptoms via clinical synopsis from OMIM:

56
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

GenomeRNAi Phenotypes related to Leber Congenital Amaurosis 12 according to GeneCards Suite gene sharing:

26 (showing 1, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased HPV16-GFP infection GR00350-A 8.8 IMPDH1 RDH12 RPE65

MGI Mouse Phenotypes related to Leber Congenital Amaurosis 12:

45 (showing 2, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.65 AIPL1 DNAJB12 GUCA1A GUCY2D LCA5 NMNAT1
2 vision/eye MP:0005391 9.36 AIPL1 GUCA1A GUCA1B GUCY2D IMPDH1 LCA5

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:

40
Retina, Eye, Bone

Publications for Leber Congenital Amaurosis 12

Articles related to Leber Congenital Amaurosis 12:

(showing 18, show less)
# 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. 61 56 6
23308101 2013
2
Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy. 61 56 6
22531706 2012
3
Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration. 56 6
17186464 2006
4
Leber Congenital Amaurosis 61 6
20301475 2004
5
Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview 6
30285347 2018
6
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. 6
23105016 2013
7
Genetics and molecular basis of human peroxisome biogenesis disorders. 6
22871920 2012
8
Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotype. 6
10384394 1999
9
Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. 6
9398847 1997
10
Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders. 6
9398848 1997
11
GCAP neuronal calcium sensor proteins mediate photoreceptor cell death in the rd3 mouse model of LCA12 congenital blindness by involving endoplasmic reticulum stress. 61
31980596 2020
12
Control of the Nucleotide Cycle in Photoreceptor Cell Extracts by Retinal Degeneration Protein 3. 61
29515371 2018
13
Mouse Models as Tools to Identify Genetic Pathways for Retinal Degeneration, as Exemplified by Leber's Congenital Amaurosis. 61
27150101 2016
14
Insights into the role of RD3 in guanylate cyclase trafficking, photoreceptor degeneration, and Leber congenital amaurosis. 61
24904271 2014
15
RD3 gene delivery restores guanylate cyclase localization and rescues photoreceptors in the Rd3 mouse model of Leber congenital amaurosis 12. 61
23740938 2013
16
RD3: a challenge and a promise. 61
25679013 2013
17
Retinal degeneration 3 (RD3) protein inhibits catalytic activity of retinal membrane guanylyl cyclase (RetGC) and its stimulation by activating proteins. 61
21928830 2011
18
RD3, the protein associated with Leber congenital amaurosis type 12, is required for guanylate cyclase trafficking in photoreceptor cells. 61
21078983 2010

Variations for Leber Congenital Amaurosis 12

ClinVar genetic disease variations for Leber Congenital Amaurosis 12:

6 (showing 7, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RD3 NM_183059.2(RD3):c.180C>A (p.Tyr60Ter)SNV Pathogenic 189791 rs762631020 1:211654578-211654578 1:211481236-211481236
2 RD3 NM_183059.2(RD3):c.112C>T (p.Arg38Ter)SNV Pathogenic 189792 rs786205148 1:211654646-211654646 1:211481304-211481304
3 RD3 NM_183059.2(RD3):c.137_138del (p.Glu46fs)deletion Pathogenic 189793 rs786205149 1:211654620-211654621 1:211481278-211481279
4 RD3 NM_183059.2(RD3):c.136G>T (p.Glu46Ter)SNV Pathogenic 189794 rs786205150 1:211654622-211654622 1:211481280-211481280
5 RD3 NM_183059.2(RD3):c.296+1G>ASNV Pathogenic 13121 rs386834260 1:211654461-211654461 1:211481119-211481119
6 RD3 NM_183059.2(RD3):c.202C>T (p.Arg68Trp)SNV Uncertain significance 466320 rs144697496 1:211654556-211654556 1:211481214-211481214
7 RD3 NM_183059.2(RD3):c.584A>T (p.Asp195Val)SNV Benign/Likely benign 445480 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

Cellular components related to Leber Congenital Amaurosis 12 according to GeneCards Suite gene sharing:

(showing 4, show less)
# Name GO ID Score Top Affiliating Genes
1 photoreceptor outer segment GO:0001750 9.33 SPATA7 RD3 GUCY2D
2 photoreceptor connecting cilium GO:0032391 9.26 SPATA7 LCA5
3 photoreceptor disc membrane GO:0097381 9.13 GUCY2D GUCA1B GUCA1A
4 photoreceptor inner segment GO:0001917 8.92 RDH12 RD3 GUCA1B AIPL1

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

(showing 8, show less)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.56 SPATA7 RPE65 RDH12 RD3 GUCY2D GUCA1B
2 regulation of rhodopsin mediated signaling pathway GO:0022400 9.46 GUCY2D GUCA1B GUCA1A AIPL1
3 retinol metabolic process GO:0042572 9.43 RPE65 RDH12
4 photoreceptor cell maintenance GO:0045494 9.43 SPATA7 RDH12 LCA5
5 retina homeostasis GO:0001895 9.4 RPE65 AIPL1
6 positive regulation of guanylate cyclase activity GO:0031284 9.37 GUCA1B GUCA1A
7 receptor guanylyl cyclase signaling pathway GO:0007168 9.32 GUCY2D GUCA1B
8 visual perception GO:0007601 9.23 SPATA7 RPE65 RDH12 RD3 GUCY2D GUCA1B

Molecular functions related to Leber Congenital Amaurosis 12 according to GeneCards Suite gene sharing:

(showing 2, show less)
# Name GO ID Score Top Affiliating Genes
1 calcium sensitive guanylate cyclase activator activity GO:0008048 8.96 GUCA1B GUCA1A
2 guanylate cyclase regulator activity GO:0030249 8.62 GUCA1B GUCA1A

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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