MCID: LBR005
MIFTS: 31

Leber Congenital Amaurosis 10

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

Aliases & Classifications for Leber Congenital Amaurosis 10

MalaCards integrated aliases for Leber Congenital Amaurosis 10:

Name: Leber Congenital Amaurosis 10 57 12 53 75 29 13 6 15 73
Lca10 57 12 53 75
Amaurosis Congenita of Leber, Type 10 53
Leber Congenital Amaurosis, Type 10 40
Leber Congenital Amaurosis Type 10 53

Characteristics:

HPO:

32
leber congenital amaurosis 10:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 611755
Disease Ontology 12 DOID:0110291
ICD10 33 H35.5
MedGen 42 C1857821
MeSH 44 D057130
UMLS 73 C1857821

Summaries for Leber Congenital Amaurosis 10

OMIM : 57 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 senior-l√łken syndrome. An important gene associated with Leber Congenital Amaurosis 10 is CEP290 (Centrosomal Protein 290). Affiliated tissues include retina and eye, and related phenotypes are visual impairment and seizures

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 : 75 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

Clinical features from OMIM:

611755

Human phenotypes related to Leber Congenital Amaurosis 10:

32
# Description HPO Frequency HPO Source Accession
1 visual impairment 32 HP:0000505
2 seizures 32 very rare (1%) HP:0001250
3 hyposmia 32 HP:0004409

Drugs & Therapeutics for Leber Congenital Amaurosis 10

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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 29 CEP290

Anatomical Context for Leber Congenital Amaurosis 10

MalaCards organs/tissues related to Leber Congenital Amaurosis 10:

41
Retina, Eye

Publications for Leber Congenital Amaurosis 10

Articles related to Leber Congenital Amaurosis 10:

# Title Authors Year
1
CRISPR/Cas9-Mediated Genome Editing as a Therapeutic Approach for Leber Congenital Amaurosis 10. ( 28109959 )
2017

Variations for Leber Congenital Amaurosis 10

ClinVar genetic disease variations for Leber Congenital Amaurosis 10:

6
(show top 50) (show all 64)
# 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.1711+1G> A single nucleotide variant Pathogenic rs587783009 GRCh37 Chromosome 12, 88512259: 88512259
14 CEP290 NM_025114.3(CEP290): c.1711+1G> A single nucleotide variant Pathogenic rs587783009 GRCh38 Chromosome 12, 88118482: 88118482
15 CEP290 NM_025114.3(CEP290): c.2248_2249delTT (p.Leu750Thrfs) deletion Pathogenic rs587783010 GRCh38 Chromosome 12, 88111320: 88111321
16 CEP290 NM_025114.3(CEP290): c.2248_2249delTT (p.Leu750Thrfs) deletion Pathogenic rs587783010 GRCh37 Chromosome 12, 88505097: 88505098
17 CEP290 NM_025114.3(CEP290): c.3904C> T (p.Gln1302Ter) single nucleotide variant Pathogenic rs587783016 GRCh38 Chromosome 12, 88089157: 88089157
18 CEP290 NM_025114.3(CEP290): c.3904C> T (p.Gln1302Ter) single nucleotide variant Pathogenic rs587783016 GRCh37 Chromosome 12, 88482934: 88482934
19 CEP290 NM_025114.3(CEP290): c.6869dupA (p.Asn2290Lysfs) duplication Pathogenic rs587783017 GRCh37 Chromosome 12, 88449444: 88449444
20 CEP290 NM_025114.3(CEP290): c.6869dupA (p.Asn2290Lysfs) duplication Pathogenic rs587783017 GRCh38 Chromosome 12, 88055667: 88055667
21 CEP290 NM_025114.3(CEP290): c.5611_5614delCAAA (p.Gln1871Valfs) deletion Pathogenic rs727503853 GRCh37 Chromosome 12, 88471094: 88471097
22 CEP290 NM_025114.3(CEP290): c.5611_5614delCAAA (p.Gln1871Valfs) deletion Pathogenic rs727503853 GRCh38 Chromosome 12, 88077317: 88077320
23 CEP290 NM_025114.3(CEP290): c.1665_1666delAA (p.Lys555Asnfs) deletion Pathogenic rs727503855 GRCh37 Chromosome 12, 88512305: 88512306
24 CEP290 NM_025114.3(CEP290): c.1665_1666delAA (p.Lys555Asnfs) deletion Pathogenic rs727503855 GRCh38 Chromosome 12, 88118528: 88118529
25 CEP290 NM_025114.3(CEP290): c.1860_1863delAAGA (p.Arg621Ilefs) deletion Pathogenic rs766608755 GRCh37 Chromosome 12, 88508921: 88508924
26 CEP290 NM_025114.3(CEP290): c.1860_1863delAAGA (p.Arg621Ilefs) deletion Pathogenic rs766608755 GRCh38 Chromosome 12, 88115144: 88115147
27 CEP290 NM_025114.3(CEP290): c.5182G> T (p.Glu1728Ter) single nucleotide variant Pathogenic rs370119681 GRCh37 Chromosome 12, 88474003: 88474003
28 CEP290 NM_025114.3(CEP290): c.5182G> T (p.Glu1728Ter) single nucleotide variant Pathogenic rs370119681 GRCh38 Chromosome 12, 88080226: 88080226
29 CEP290 NM_025114.3(CEP290): c.6604delA (p.Ile2202Leufs) deletion Pathogenic rs758329611 GRCh37 Chromosome 12, 88453716: 88453716
30 CEP290 NM_025114.3(CEP290): c.6604delA (p.Ile2202Leufs) deletion Pathogenic rs758329611 GRCh38 Chromosome 12, 88059939: 88059939
31 CEP290 NM_025114.3(CEP290): c.4243G> T (p.Glu1415Ter) single nucleotide variant Likely pathogenic rs797044604 GRCh38 Chromosome 12, 88086450: 88086450
32 CEP290 NM_025114.3(CEP290): c.4243G> T (p.Glu1415Ter) single nucleotide variant Likely pathogenic rs797044604 GRCh37 Chromosome 12, 88480227: 88480227
33 CEP290 NM_025114.3(CEP290): c.4522C> T (p.Arg1508Ter) single nucleotide variant Pathogenic rs749439750 GRCh37 Chromosome 12, 88478545: 88478545
34 CEP290 NM_025114.3(CEP290): c.4522C> T (p.Arg1508Ter) single nucleotide variant Pathogenic rs749439750 GRCh38 Chromosome 12, 88084768: 88084768
35 CEP290 NM_025114.3(CEP290): c.2052+1_2052+2delGT deletion Pathogenic rs747835249 GRCh37 Chromosome 12, 88508195: 88508196
36 CEP290 NM_025114.3(CEP290): c.2052+1_2052+2delGT deletion Pathogenic rs747835249 GRCh38 Chromosome 12, 88114418: 88114419
37 CEP290 NM_025114.3(CEP290): c.1936C> T (p.Gln646Ter) single nucleotide variant Pathogenic rs780225183 GRCh37 Chromosome 12, 88508313: 88508313
38 CEP290 NM_025114.3(CEP290): c.1936C> T (p.Gln646Ter) single nucleotide variant Pathogenic rs780225183 GRCh38 Chromosome 12, 88114536: 88114536
39 CEP290 NM_025114.3(CEP290): c.2722C> T (p.Arg908Ter) single nucleotide variant Pathogenic rs886042153 GRCh37 Chromosome 12, 88500547: 88500547
40 CEP290 NM_025114.3(CEP290): c.2722C> T (p.Arg908Ter) single nucleotide variant Pathogenic rs886042153 GRCh38 Chromosome 12, 88106770: 88106770
41 CEP290 NM_025114.3(CEP290): c.181-2A> G single nucleotide variant Pathogenic rs886042359 GRCh37 Chromosome 12, 88533343: 88533343
42 CEP290 NM_025114.3(CEP290): c.181-2A> G single nucleotide variant Pathogenic rs886042359 GRCh38 Chromosome 12, 88139566: 88139566
43 CEP290 NM_025114.3(CEP290): c.5803G> T (p.Glu1935Ter) single nucleotide variant Pathogenic rs886042360 GRCh37 Chromosome 12, 88465610: 88465610
44 CEP290 NM_025114.3(CEP290): c.5803G> T (p.Glu1935Ter) single nucleotide variant Pathogenic rs886042360 GRCh38 Chromosome 12, 88071833: 88071833
45 CEP290 NM_025114.3(CEP290): c.7062_7063delGA (p.Lys2355Serfs) deletion Pathogenic rs886042734 GRCh37 Chromosome 12, 88447495: 88447496
46 CEP290 NM_025114.3(CEP290): c.7062_7063delGA (p.Lys2355Serfs) deletion Pathogenic rs886042734 GRCh38 Chromosome 12, 88053718: 88053719
47 CEP290 NM_025114.3(CEP290): c.4437+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs760915898 GRCh37 Chromosome 12, 88479815: 88479815
48 CEP290 NM_025114.3(CEP290): c.4437+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs760915898 GRCh38 Chromosome 12, 88086038: 88086038
49 CEP290 NM_025114.3(CEP290): c.1512_1515delAGAG (p.Arg504Serfs) deletion Pathogenic rs886043303 GRCh37 Chromosome 12, 88513898: 88513901
50 CEP290 NM_025114.3(CEP290): c.1512_1515delAGAG (p.Arg504Serfs) deletion Pathogenic rs886043303 GRCh38 Chromosome 12, 88120121: 88120124

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 centrosome GO:0005813 9.33 CEP290 IQCB1 MECP2
2 centriole GO:0005814 9.26 CEP290 IQCB1
3 photoreceptor connecting cilium GO:0032391 8.96 CEP290 IQCB1
4 gamma-tubulin complex GO:0000930 8.62 CEP290 MECP2

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

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11 DGIdb
17 ExPASy
19 FMA
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45 MESH via Orphanet
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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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