Leber Congenital Amaurosis 10 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: LBR005 MIFTS: 31	Leber Congenital Amaurosis 10 Categories: Genetic diseases, Rare diseases, Eye diseases, Neuronal diseases
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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Eye diseases Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the eye and adnexa

Disorders of choroid and retina

Other retinal disorders

Hereditary retinal dystrophy

External Ids:

OMIM ⁵⁷ 611755

Disease Ontology ¹² DOID:0110291

ICD10 ³³ H35.5

MedGen ⁴² C1857821

MeSH ⁴⁴ D057130

SNOMED-CT via HPO ⁶⁹ 258211005 246635007 397540003 more

UMLS ⁷³ C1857821

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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-løken 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.

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Related Diseases for Leber Congenital Amaurosis 10

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

Diseases related to Leber Congenital Amaurosis 10 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)

#	Related Disease	Score	Top Affiliating Genes
1	leber congenital amaurosis	29.0	CEP290 IQCB1 RPE65
2	senior-løken syndrome	10.2	CEP290 IQCB1
3	retinal aplasia	10.1	CEP290 IQCB1
4	senior-loken syndrome 1	10.0	CEP290 IQCB1
5	leber congenital amaurosis 12	10.0	CEP290 RPE65
6	yemenite deaf-blind hypopigmentation syndrome	9.9	CEP290 RPE65
7	joubert syndrome 1	9.8	CEP290 IQCB1
8	retinal disease	9.7	CEP290 RPE65
9	lubs x-linked mental retardation syndrome	9.6	IRAK1 MECP2
10	nephronophthisis	9.6	CEP290 IQCB1
11	fundus dystrophy	9.5	CEP290 IQCB1 RPE65

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

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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

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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

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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

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Anatomical Context for Leber Congenital Amaurosis 10

MalaCards organs/tissues related to Leber Congenital Amaurosis 10:

⁴¹

Retina, Eye

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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 )	Ruan G.X....Scaria A.	2017

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Genes for Leber Congenital Amaurosis 10

Genes related to Leber Congenital Amaurosis 10 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CEP290	Centrosomal Protein 290	Protein Coding	1061.45	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ Pathogenic/Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	16909394 20301475 17564967 (more) 17564974 17345604 17554762 21368913 20301500 20301537
2	IQCB1	IQ Motif Containing B1	Protein Coding	18.34	GeneCards inferred via : Disorders (show sections)
3	IRAK1	Interleukin 1 Receptor Associated Kinase 1	Protein Coding	15.46	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
4	RPE65	RPE65, Retinoid Isomerohydrolase	Protein Coding	15.4	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
5	MECP2	Methyl-CpG Binding Protein 2	Protein Coding	14.72	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
6	GPR173	G Protein-Coupled Receptor 173	Protein Coding	8.1	DISEASES inferred ¹⁵

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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

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Expression for Leber Congenital Amaurosis 10

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

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Pathways for Leber Congenital Amaurosis 10

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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

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Sources for Leber Congenital Amaurosis 10

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⁷¹ TGDB

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⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia