LCA10
MCID: LBR005
MIFTS: 34

Leber Congenital Amaurosis 10 (LCA10)

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

Aliases & Classifications for Leber Congenital Amaurosis 10

MalaCards integrated aliases for Leber Congenital Amaurosis 10:

Name: Leber Congenital Amaurosis 10 58 12 54 76 30 13 6 15 74
Lca10 58 12 54 76
Amaurosis Congenita of Leber, Type 10 54
Leber Congenital Amaurosis, Type 10 41
Leber Congenital Amaurosis Type 10 54

Characteristics:

HPO:

33
leber congenital amaurosis 10:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110291
OMIM 58 611755
MeSH 45 D057130
ICD10 34 H35.5
MedGen 43 C1857821
UMLS 74 C1857821

Summaries for Leber Congenital Amaurosis 10

OMIM : 58 Leber congenital amaurosis is a severe retinal dystrophy, causing blindness or severe visual impairment at birth or during the first months of life (summary by den Hollander et al., 2006). For a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis, see LCA1 (204000). (611755)

MalaCards based summary : Leber Congenital Amaurosis 10, also known as lca10, is related to leber congenital amaurosis and retinal aplasia. An important gene associated with Leber Congenital Amaurosis 10 is CEP290 (Centrosomal Protein 290). The drug cysteine has been mentioned in the context of this disorder. Affiliated tissues include retina, eye and brain, and related phenotypes are seizures and visual impairment

Disease Ontology : 12 A Leber congenital amaurosis that is characterized by severe infantile-onset cone-rod dystrophy with high hyperopia and severe ERG abnormalities and has material basis in mutation in the CEP290 gene on chromosome 12q21.32.

UniProtKB/Swiss-Prot : 76 Leber congenital amaurosis 10: 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 10

Graphical network of the top 20 diseases related to Leber Congenital Amaurosis 10:



Diseases related to Leber Congenital Amaurosis 10

Symptoms & Phenotypes for Leber Congenital Amaurosis 10

Human phenotypes related to Leber Congenital Amaurosis 10:

33
# Description HPO Frequency HPO Source Accession
1 seizures 33 very rare (1%) HP:0001250
2 visual impairment 33 HP:0000505
3 hyposmia 33 HP:0004409

Clinical features from OMIM:

611755

Drugs & Therapeutics for Leber Congenital Amaurosis 10

Drugs for Leber Congenital Amaurosis 10 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 cysteine Phase 2, Phase 3,Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Multi-dose Study for Efficacy, Safety, Tolerability, Exposure of QR-110 in LCA10 Recruiting NCT03913143 Phase 2, Phase 3 QR-110
2 Single Ascending Dose Study in Participants With LCA10 Not yet recruiting NCT03872479 Phase 1, Phase 2 AGN-151587
3 Extension Study to Study PQ-110-001 (NCT03140969) Not yet recruiting NCT03913130 Phase 1, Phase 2 QR-110
4 Natural History Study of CEP290-Related Retinal Degeneration Recruiting NCT03396042

Search NIH Clinical Center for Leber Congenital Amaurosis 10

Genetic Tests for Leber Congenital Amaurosis 10

Genetic tests related to Leber Congenital Amaurosis 10:

# Genetic test Affiliating Genes
1 Leber Congenital Amaurosis 10 30 CEP290

Anatomical Context for Leber Congenital Amaurosis 10

MalaCards organs/tissues related to Leber Congenital Amaurosis 10:

42
Retina, Eye, Brain

Publications for Leber Congenital Amaurosis 10

Articles related to Leber Congenital Amaurosis 10:

# Title Authors Year
1
Gene editing shows promise in LCA10. ( 30718824 )
2019
2
Splice-Modulating Oligonucleotide QR-110 Restores CEP290 mRNA and Function in Human c.2991+1655A>G LCA10 Models. ( 30114557 )
2018
3
CRISPR/Cas9-Mediated Genome Editing as a Therapeutic Approach for Leber Congenital Amaurosis 10. ( 28109959 )
2017
4
Clinical utility gene card for: Meckel syndrome. ( 21368913 )
2011
5
Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. ( 17345604 )
2007
6
Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis. ( 17554762 )
2007
7
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. ( 17564967 )
2007
8
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. ( 17564974 )
2007
9
Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. ( 16909394 )
2006

Variations for Leber Congenital Amaurosis 10

ClinVar genetic disease variations for Leber Congenital Amaurosis 10:

6 (show top 50) (show all 82)
# Gene Variation Type Significance SNP ID Assembly Location
1 CEP290 NM_025114.3(CEP290): c.5668G> T (p.Gly1890Ter) single nucleotide variant Pathogenic rs137852832 GRCh37 Chromosome 12, 88471040: 88471040
2 CEP290 NM_025114.3(CEP290): c.5668G> T (p.Gly1890Ter) single nucleotide variant Pathogenic rs137852832 GRCh38 Chromosome 12, 88077263: 88077263
3 CEP290 NM_025114.3(CEP290): c.2991+1655A> G single nucleotide variant Pathogenic rs281865192 GRCh37 Chromosome 12, 88494960: 88494960
4 CEP290 NM_025114.3(CEP290): c.2991+1655A> G single nucleotide variant Pathogenic rs281865192 GRCh38 Chromosome 12, 88101183: 88101183
5 CEP290 NM_025114.3(CEP290): c.2249T> G (p.Leu750Ter) single nucleotide variant Pathogenic rs137852833 GRCh37 Chromosome 12, 88505097: 88505097
6 CEP290 NM_025114.3(CEP290): c.2249T> G (p.Leu750Ter) single nucleotide variant Pathogenic rs137852833 GRCh38 Chromosome 12, 88111320: 88111320
7 CEP290 NM_025114.3(CEP290): c.4723A> T (p.Lys1575Ter) single nucleotide variant Pathogenic rs137852834 GRCh37 Chromosome 12, 88477713: 88477713
8 CEP290 NM_025114.3(CEP290): c.4723A> T (p.Lys1575Ter) single nucleotide variant Pathogenic rs137852834 GRCh38 Chromosome 12, 88083936: 88083936
9 CEP290 CEP290, 4-BP DEL, 384TAGA deletion Pathogenic
10 CEP290 CEP290, 5-BP DEL, 1260TAAAG deletion Pathogenic
11 CEP290 NM_025114.3(CEP290): c.5493delA (p.Ala1832Profs) deletion Pathogenic rs386834158 GRCh37 Chromosome 12, 88471567: 88471567
12 CEP290 NM_025114.3(CEP290): c.5493delA (p.Ala1832Profs) deletion Pathogenic rs386834158 GRCh38 Chromosome 12, 88077790: 88077790
13 CEP290 NM_025114.3(CEP290): c.6787A> G (p.Ser2263Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs77778467 GRCh37 Chromosome 12, 88452656: 88452656
14 CEP290 NM_025114.3(CEP290): c.6787A> G (p.Ser2263Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs77778467 GRCh38 Chromosome 12, 88058879: 88058879
15 CEP290 NM_025114.3(CEP290): c.1711+1G> A single nucleotide variant Pathogenic rs587783009 GRCh37 Chromosome 12, 88512259: 88512259
16 CEP290 NM_025114.3(CEP290): c.1711+1G> A single nucleotide variant Pathogenic rs587783009 GRCh38 Chromosome 12, 88118482: 88118482
17 CEP290 NM_025114.3(CEP290): c.2248_2249delTT (p.Leu750Thrfs) deletion Pathogenic rs587783010 GRCh38 Chromosome 12, 88111320: 88111321
18 CEP290 NM_025114.3(CEP290): c.2248_2249delTT (p.Leu750Thrfs) deletion Pathogenic rs587783010 GRCh37 Chromosome 12, 88505097: 88505098
19 CEP290 NM_025114.3(CEP290): c.3904C> T (p.Gln1302Ter) single nucleotide variant Pathogenic rs587783016 GRCh38 Chromosome 12, 88089157: 88089157
20 CEP290 NM_025114.3(CEP290): c.3904C> T (p.Gln1302Ter) single nucleotide variant Pathogenic rs587783016 GRCh37 Chromosome 12, 88482934: 88482934
21 CEP290 NM_025114.3(CEP290): c.6869dupA (p.Asn2290Lysfs) duplication Pathogenic rs587783017 GRCh37 Chromosome 12, 88449444: 88449444
22 CEP290 NM_025114.3(CEP290): c.6869dupA (p.Asn2290Lysfs) duplication Pathogenic rs587783017 GRCh38 Chromosome 12, 88055667: 88055667
23 CEP290 NM_025114.3(CEP290): c.4250A> G (p.Gln1417Arg) single nucleotide variant Uncertain significance rs201504946 GRCh37 Chromosome 12, 88480220: 88480220
24 CEP290 NM_025114.3(CEP290): c.4250A> G (p.Gln1417Arg) single nucleotide variant Uncertain significance rs201504946 GRCh38 Chromosome 12, 88086443: 88086443
25 CEP290 NM_025114.3(CEP290): c.5611_5614delCAAA (p.Gln1871Valfs) deletion Pathogenic rs727503853 GRCh37 Chromosome 12, 88471094: 88471097
26 CEP290 NM_025114.3(CEP290): c.5611_5614delCAAA (p.Gln1871Valfs) deletion Pathogenic rs727503853 GRCh38 Chromosome 12, 88077317: 88077320
27 CEP290 NM_025114.3(CEP290): c.1665_1666delAA (p.Lys555Asnfs) deletion Pathogenic rs727503855 GRCh37 Chromosome 12, 88512305: 88512306
28 CEP290 NM_025114.3(CEP290): c.1665_1666delAA (p.Lys555Asnfs) deletion Pathogenic rs727503855 GRCh38 Chromosome 12, 88118528: 88118529
29 CEP290 NM_025114.3(CEP290): c.3660G> T (p.Lys1220Asn) single nucleotide variant Uncertain significance rs201982308 GRCh37 Chromosome 12, 88483178: 88483178
30 CEP290 NM_025114.3(CEP290): c.3660G> T (p.Lys1220Asn) single nucleotide variant Uncertain significance rs201982308 GRCh38 Chromosome 12, 88089401: 88089401
31 CEP290 NM_025114.3(CEP290): c.5182G> T (p.Glu1728Ter) single nucleotide variant Pathogenic rs370119681 GRCh37 Chromosome 12, 88474003: 88474003
32 CEP290 NM_025114.3(CEP290): c.5182G> T (p.Glu1728Ter) single nucleotide variant Pathogenic rs370119681 GRCh38 Chromosome 12, 88080226: 88080226
33 CEP290 NM_025114.3(CEP290): c.5284C> T (p.Arg1762Cys) single nucleotide variant Uncertain significance rs373307908 GRCh37 Chromosome 12, 88472949: 88472949
34 CEP290 NM_025114.3(CEP290): c.5284C> T (p.Arg1762Cys) single nucleotide variant Uncertain significance rs373307908 GRCh38 Chromosome 12, 88079172: 88079172
35 CEP290 NM_025114.3(CEP290): c.4243G> T (p.Glu1415Ter) single nucleotide variant Likely pathogenic rs797044604 GRCh38 Chromosome 12, 88086450: 88086450
36 CEP290 NM_025114.3(CEP290): c.4243G> T (p.Glu1415Ter) single nucleotide variant Likely pathogenic rs797044604 GRCh37 Chromosome 12, 88480227: 88480227
37 CEP290 NM_025114.3(CEP290): c.5344C> T (p.Arg1782Ter) single nucleotide variant Pathogenic rs575767207 GRCh37 Chromosome 12, 88472889: 88472889
38 CEP290 NM_025114.3(CEP290): c.5344C> T (p.Arg1782Ter) single nucleotide variant Pathogenic rs575767207 GRCh38 Chromosome 12, 88079112: 88079112
39 CEP290 NM_025114.3(CEP290): c.4882C> T (p.Gln1628Ter) single nucleotide variant Pathogenic rs376493409 GRCh38 Chromosome 12, 88083161: 88083161
40 CEP290 NM_025114.3(CEP290): c.4882C> T (p.Gln1628Ter) single nucleotide variant Pathogenic rs376493409 GRCh37 Chromosome 12, 88476938: 88476938
41 CEP290 NM_025114.3(CEP290): c.4522C> T (p.Arg1508Ter) single nucleotide variant Pathogenic rs749439750 GRCh37 Chromosome 12, 88478545: 88478545
42 CEP290 NM_025114.3(CEP290): c.4522C> T (p.Arg1508Ter) single nucleotide variant Pathogenic rs749439750 GRCh38 Chromosome 12, 88084768: 88084768
43 CEP290 NM_025114.3(CEP290): c.4393C> T (p.Arg1465Ter) single nucleotide variant Pathogenic rs539400286 GRCh37 Chromosome 12, 88479860: 88479860
44 CEP290 NM_025114.3(CEP290): c.4393C> T (p.Arg1465Ter) single nucleotide variant Pathogenic rs539400286 GRCh38 Chromosome 12, 88086083: 88086083
45 CEP290 NM_025114.3(CEP290): c.4938A> G (p.Lys1646=) single nucleotide variant Uncertain significance rs371582975 GRCh37 Chromosome 12, 88476882: 88476882
46 CEP290 NM_025114.3(CEP290): c.4938A> G (p.Lys1646=) single nucleotide variant Uncertain significance rs371582975 GRCh38 Chromosome 12, 88083105: 88083105
47 CEP290 NM_025114.3(CEP290): c.2551G> A (p.Val851Ile) single nucleotide variant Uncertain significance rs764963626 GRCh37 Chromosome 12, 88500808: 88500808
48 CEP290 NM_025114.3(CEP290): c.2551G> A (p.Val851Ile) single nucleotide variant Uncertain significance rs764963626 GRCh38 Chromosome 12, 88107031: 88107031
49 CEP290 NM_025114.3(CEP290): c.5998A> G (p.Ile2000Val) single nucleotide variant Uncertain significance rs183071230 GRCh37 Chromosome 12, 88465084: 88465084
50 CEP290 NM_025114.3(CEP290): c.5998A> G (p.Ile2000Val) single nucleotide variant Uncertain significance rs183071230 GRCh38 Chromosome 12, 88071307: 88071307

Expression for Leber Congenital Amaurosis 10

Search GEO for disease gene expression data for Leber Congenital Amaurosis 10.

Pathways for Leber Congenital Amaurosis 10

GO Terms for Leber Congenital Amaurosis 10

Cellular components related to Leber Congenital Amaurosis 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 centriole GO:0005814 9.16 CEP290 IQCB1
2 centrosome GO:0005813 9.13 CEP290 IQCB1 MECP2
3 photoreceptor connecting cilium GO:0032391 8.62 CEP290 IQCB1

Biological processes related to Leber Congenital Amaurosis 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 9.16 CEP290 IQCB1
2 positive regulation of transcription, DNA-templated GO:0045893 9.13 CEP290 IRAK1 MECP2
3 ciliary basal body-plasma membrane docking GO:0097711 8.62 CEP290 IQCB1

Sources for Leber Congenital Amaurosis 10

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....