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

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) (Updated 08-Dec-2022)

MalaCards based summary: Leber Congenital Amaurosis 10, also known as lca10, is related to retinal disease and fundus dystrophy. An important gene associated with Leber Congenital Amaurosis 10 is CEP290 (Centrosomal Protein 290), and among its related pathways/superpathways are Visual phototransduction and Ciliary landscape. The drug Cysteine has been mentioned in the context of this disorder. Affiliated tissues include retina, eye and brain, and related phenotypes are seizure and visual impairment

UniProtKB/Swiss-Prot: ⁷³ 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.

Disease Ontology: ¹¹ 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.

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Related Diseases for Leber Congenital Amaurosis 10

Diseases in the Leber Congenital Amaurosis 4 family:

Leber Congenital Amaurosis 1	Leber Congenital Amaurosis 2
Leber Congenital Amaurosis 3	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 10 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 135)

#	Related Disease	Score	Top Affiliating Genes
1	retinal disease	29.2	USH2A RPGR RPE65 RHO GUCY2D CRX
2	fundus dystrophy	25.7	USH2A TULP1 SPATA7 RPGRIP1 RPGR RPE65
3	leber plus disease	25.7	USH2A TULP1 SPATA7 RPGRIP1 RPGR RPE65
4	cogan syndrome	10.3	IQCB1 CEP290
5	cone-rod dystrophy 1	10.3	RPGRIP1 RPGR
6	cone-rod dystrophy 17	10.3	GUCY2D AIPL1
7	cold-induced sweating syndrome 3	10.3	RPE65 GUCY2D
8	retinal cone dystrophy 1	10.3	GUCY2D CRX
9	macular degeneration, x-linked atrophic	10.3	RPGR IQCB1
10	nephronophthisis 16	10.3	IQCB1 CEP290
11	retinitis pigmentosa 35	10.3	RPGR RDH12
12	nephronophthisis 9	10.2	IQCB1 CEP290
13	macular dystrophy, concentric annular	10.2	CRX ABCA4
14	nephronophthisis 19	10.2	RPGR IQCB1 CEP290
15	nephronophthisis 11	10.2	IQCB1 CEP290
16	retinitis pigmentosa 84	10.2	RPGR RDH12
17	retinitis pigmentosa 91	10.2	CRX ABCA4
18	cone-rod dystrophy, x-linked, 1	10.2	RPGR ABCA4
19	cranioectodermal dysplasia	10.2	RPGR IQCB1 CEP290
20	cone-rod dystrophy 12	10.2	RDH12 ABCA4
21	cataract	10.2
22	microphthalmia, isolated 6	10.2	IQCB1 CRB1
23	simpson-golabi-behmel syndrome, type 2	10.2	RPGRIP1 LCA5 CEP290
24	vitreoretinal degeneration	10.2	KCNJ13 ABCA4
25	retinitis pigmentosa 54	10.2	RPGR LCA5
26	progressive cone dystrophy	10.2	RPGR GUCY2D ABCA4
27	renal-hepatic-pancreatic dysplasia	10.2	IQCB1 CEP290
28	retinitis pigmentosa 19	10.2	RPGR ABCA4
29	blue cone monochromacy	10.2	RPGR GUCY2D ABCA4
30	inherited retinal disorder	10.1
31	joubert syndrome 7	10.1	RPGRIP1 RPGR AIPL1
32	intellectual developmental disorder, autosomal dominant 3	10.1	RD3 GUCY2D
33	enophthalmos	10.1	GUCY2D CRB1 CEP290
34	joubert syndrome 5	10.1	IQCB1 CNTLN CEP290
35	joubert syndrome 3	10.1	IQCB1 CNTLN CEP290
36	retinitis pigmentosa 12	10.1	RPGR CRB1 AIPL1
37	nephronophthisis 12	10.1	RPGR IQCB1
38	severe early-childhood-onset retinal dystrophy	10.1	SPATA7 RPE65 LCA5 ABCA4
39	vitreous syneresis	10.1	RPGR KCNJ13 CRB1
40	pseudoretinitis pigmentosa	10.1	TULP1 CRB1
41	gapo syndrome	10.1	CRB1 AIPL1
42	cone-rod dystrophy 13	10.1	SPATA7 RPGRIP1 RPGR IQCB1
43	partial central choroid dystrophy	10.1	RPE65 GUCY2D CRX ABCA4
44	hereditary choroidal atrophy	10.1	RPE65 GUCY2D CRX ABCA4
45	retinitis pigmentosa 4	10.0	RHO IQCB1
46	night blindness, congenital stationary, autosomal dominant 1	10.0	SPATA7 RHO
47	cone-rod dystrophy 3	10.0	RPGR GUCY2D CRX ABCA4
48	occult macular dystrophy	10.0	RPGR GUCY2D CRX ABCA4
49	asphyxiating thoracic dystrophy	10.0	RPGR IQCB1 CNTLN CEP290
50	red-green color blindness	10.0	RPGR RPE65 RHO

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

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Symptoms & Phenotypes for Leber Congenital Amaurosis 10

Human phenotypes related to Leber Congenital Amaurosis 10:

³⁰

#	Description	HPO Frequency	HPO Source Accession
1	seizure ³⁰	Very rare (1%)	HP:0001250
2	visual impairment ³⁰		HP:0000505
3	hyposmia ³⁰		HP:0004409

Clinical features from OMIM®:

611755 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Leber Congenital Amaurosis 10 according to GeneCards Suite gene sharing:

²⁵

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	no effect	GR00402-S-1	10.14	ABCA4 AIPL1 CEP290 CNTLN CRB1 CRX
2	no effect	GR00402-S-2	10.14	ABCA4 AIPL1 CEP290 CRB1 CRX GRK1

MGI Mouse Phenotypes related to Leber Congenital Amaurosis 10:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	nervous system	MP:0003631	9.89	ABCA4 AIPL1 CEP290 CRB1 CRX GRK1
2	pigmentation	MP:0001186	9.81	ABCA4 CEP290 CRB1 CRX LCA5 RHO
3	vision/eye	MP:0005391	9.58	ABCA4 AIPL1 CEP290 CRB1 CRX GRK1

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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

Approved, Nutraceutical

Phase 2, Phase 3

52-90-4

594 5862

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	An Open-Label, Dose Escalation and Double-Masked, Randomized, Controlled Study to Evaluate the Safety and Tolerability of Sepofarsen in Pediatric Subjects <8 Years of Age With Leber Congenital Amaurosis Type 10 (LCA10) Due to the c.2991 +1655A>G (p.Cys998X) Mutation.	Recruiting	NCT04855045	Phase 2, Phase 3	sepofarsen
2	Double-masked, Randomized, Controlled, Multiple-dose Study to Evaluate Efficacy, Safety, Tolerability and Syst. Exposure of QR-110 in Leber's Congenital Amaurosis (LCA) Due to c.2991+1655A>G Mutation (p.Cys998X) in the CEP290 Gene	Active, not recruiting	NCT03913143	Phase 2, Phase 3	sepofarsen
3	Open-Label, Single Ascending Dose Study to Evaluate the Safety, Tolerability, and Efficacy of EDIT-101 in Adult and Pediatric Participants With Leber Congenital Amaurosis Type 10 (LCA10), With Centrosomal Protein 290 (CEP290)-Related Retinal Degeneration Caused by a Compound Heterozygous or Homozygous Mutation Involving c.2991+1655A>G in Intron 26 (IVS26) of the CEP290 Gene ("LCA10-IVS26")	Active, not recruiting	NCT03872479	Phase 1, Phase 2	EDIT-101
4	An Open-Label, Extension Study to Evaluate the Safety, Tolerability, Efficacy and Pharmacokinetics of QR-110 in Subjects With Leber's Congenital Amaurosis (LCA) Due to the c.2991+1655A>G Mutation (p.Cys998X) in the CEP290 Gene	Active, not recruiting	NCT03913130	Phase 1, Phase 2	QR-110
5	Natural History Study of CEP290-Related Retinal Degeneration	Completed	NCT03396042

Search NIH Clinical Center for Leber Congenital Amaurosis 10

Cochrane evidence based reviews: 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 ²⁸	CEP290

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Anatomical Context for Leber Congenital Amaurosis 10

Organs/tissues related to Leber Congenital Amaurosis 10:

MalaCards : Retina, Eye, Brain

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Publications for Leber Congenital Amaurosis 10

Articles related to Leber Congenital Amaurosis 10:

(show all 38)

#	Title	Authors	PMID	Year
1	Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis. ⁵⁷ ⁵	Cideciyan AV...Swaroop A	17554762	2007
2	Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. ⁵⁷ ⁵	den Hollander AI...Cremers FP	16909394	2006
3	Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases. ⁵	Maggi J...Berger W	33546218	2021
4	CEP290 Mutation Spectrum and Delineation of the Associated Phenotype in a Large German Cohort: A Monocentric Study. ⁵	Feldhaus B...Zobor D	31734136	2020
5	Trio-whole-exome sequencing and preimplantation genetic diagnosis for unexplained recurrent fetal malformations. ⁵	Guo W...Qiao J	31680349	2020
6	AON-Mediated Exon Skipping to Bypass Protein Truncation in Retinal Dystrophies Due to the Recurrent CEP290 c.4723A > T Mutation. Fact or Fiction? ⁵	Barny I...Gerard X	31091803	2019
7	Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. ⁵	Nykamp K...Topper S	28492532	2017
8	Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease. ⁵	Stone EM...Tucker BA	28559085	2017
9	A Rare Form of Retinal Dystrophy Caused by Hypomorphic Nonsense Mutations in CEP290. ⁵	Roosing S...van den Born LI	28829391	2017
10	Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center. ⁵	Summers AC...Gunay-Aygun M	28497568	2017
11	Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. ⁵	Carss KJ...Raymond FL	28041643	2017
12	Characterizing the morbid genome of ciliopathies. ⁵	Shaheen R...Alkuraya FS	27894351	2016
13	Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. ⁵	Bachmann-Gagescu R...Doherty D	26092869	2015
14	RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. ⁵	Xiong HY...Frey BJ	25525159	2015
15	Antisense Oligonucleotide (AON)-based Therapy for Leber Congenital Amaurosis Caused by a Frequent Mutation in CEP290. ⁵	Collin RW...Cremers FP	23343883	2012
16	Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies. ⁵	Chaki M...Hildebrandt F	21866095	2011
17	Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. ⁵	Otto EA...GPN Study Group	21068128	2011
18	Abnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutations. ⁵⁷	Papon JF...Escudier E	20805370	2010
19	Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis. ⁵	Pasadhika S...Shahidi M	19959640	2010
20	Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons. ⁵⁷	McEwen DP...Martens JR	17898177	2007
21	Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. ⁵	Baala L...Attie-Bitach T	17564974	2007
22	CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. ⁵	Brancati F...Gleeson JG	17564967	2007
23	Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. ⁵	Perrault I...Rozet JM	17345604	2007
24	In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse. ⁵⁷	Chang B...Swaroop A	16632484	2006
25	Intravitreal antisense oligonucleotide sepofarsen in Leber congenital amaurosis type 10: a phase 1b/2 trial. ⁶²	Russell SR...Girach A	35379979	2022
26	Therapeutic Genome Editing and In Vivo Delivery. ⁶²	Ramirez-Phillips AC...Liu D	34080099	2021
27	LEBER CONGENITAL AMAUROSIS DUE TO CEP290 MUTATIONS-SEVERE VISION IMPAIRMENT WITH A HIGH UNMET MEDICAL NEED: A Review. ⁶²	Leroy BP...Girach A	33595255	2021
28	Toward the Treatment of Inherited Diseases of the Retina Using CRISPR-Based Gene Editing. ⁶²	Hernandez-Juarez J...Borooah S	34660621	2021
29	Novel gene variants in Polish patients with Leber congenital amaurosis (LCA). ⁶²	Skorczyk-Werner A...Krawczynski MR	33308271	2020
30	Gene editing shows promise in LCA10. ⁶²	Kelsey R	30718824	2019
31	Development of a gene-editing approach to restore vision loss in Leber congenital amaurosis type 10. ⁶²	Maeder ML...Jiang H	30664785	2019
32	Spliceosome-Mediated Pre-mRNA trans-Splicing Can Repair CEP290 mRNA. ⁶²	Dooley SJ...Bennett J	30195768	2018
33	Splice-Modulating Oligonucleotide QR-110 Restores CEP290 mRNA and Function in Human c.2991+1655A>G LCA10 Models. ⁶²	Dulla K...Cheetham ME	30114557	2018
34	Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease. ⁶²	Barny I...Gerard X	29771326	2018
35	Meta-analysis of GWAS on both Chinese and European populations identifies GPR173 as a novel X chromosome susceptibility gene for SLE. ⁶²	Zhang H...Yang W	29724251	2018
36	CRISPR/Cas9-Mediated Genome Editing as a Therapeutic Approach for Leber Congenital Amaurosis 10. ⁶²	Ruan GX...Scaria A	28109959	2017
37	Mouse Models as Tools to Identify Genetic Pathways for Retinal Degeneration, as Exemplified by Leber's Congenital Amaurosis. ⁶²	Chang B	27150101	2016
38	Leber Congenital Amaurosis – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY ⁶²	Weleber RG...Beattie C	20301475	2004

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Genes for Leber Congenital Amaurosis 10

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

(show all 20)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	CEP290	Centrosomal Protein 290	Protein Coding	1041.86	Molecular basis known ⁵⁷ Pathogenic ⁵ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	16909394 17345604 17554762 (more) 17564967 17564974 23343883 25525159 26092869 27894351 28041643 28497568 28559085 28829391 31091803 31680349 31734136 33546218 21068128 21866095
2	IQCB1	IQ Motif Containing B1	Protein Coding	14.59	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
3	LCA5	Lebercilin LCA5	Protein Coding	7.06	DISEASES inferred ¹⁴
4	RPE65	Retinoid Isomerohydrolase RPE65	Protein Coding	6.94	DISEASES inferred ¹⁴
5	RPGR	Retinitis Pigmentosa GTPase Regulator	Protein Coding	6.55	DISEASES inferred ¹⁴
6	GUCY2D	Guanylate Cyclase 2D, Retinal	Protein Coding	6.48	DISEASES inferred ¹⁴
7	AIPL1	Aryl Hydrocarbon Receptor Interacting Protein Like 1	Protein Coding	6.4	DISEASES inferred ¹⁴
8	SPATA7	Spermatogenesis Associated 7	Protein Coding	6.26	DISEASES inferred ¹⁴
9	CRX	Cone-Rod Homeobox	Protein Coding	6.14	DISEASES inferred ¹⁴
10	RDH12	Retinol Dehydrogenase 12	Protein Coding	6.12	DISEASES inferred ¹⁴
11	ABCA4	ATP Binding Cassette Subfamily A Member 4	Protein Coding	6.1	DISEASES inferred ¹⁴
12	RPGRIP1	RPGR Interacting Protein 1	Protein Coding	6.08	DISEASES inferred ¹⁴
13	KCNJ13	Potassium Inwardly Rectifying Channel Subfamily J Member 13	Protein Coding	6.02	DISEASES inferred ¹⁴
14	CRB1	Crumbs Cell Polarity Complex Component 1	Protein Coding	6	DISEASES inferred ¹⁴
15	CNTLN	Centlein	Protein Coding	5.94	DISEASES inferred ¹⁴
16	USH2A	Usherin	Protein Coding	5.93	DISEASES inferred ¹⁴
17	RD3	RD3 Regulator Of GUCY2D	Protein Coding	5.89	DISEASES inferred ¹⁴
18	RHO	Rhodopsin	Protein Coding	5.87	DISEASES inferred ¹⁴
19	GRK1	G Protein-Coupled Receptor Kinase 1	Protein Coding	5.81	DISEASES inferred ¹⁴
20	TULP1	TUB Like Protein 1	Protein Coding	5.81	DISEASES inferred ¹⁴

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Variations for Leber Congenital Amaurosis 10

ClinVar genetic disease variations for Leber Congenital Amaurosis 10:

⁵ (show top 50) (show all 181)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	CEP290	NM_025114.4(CEP290):c.1260_1264del (p.Lys421fs)	DEL	Pathogenic	1343		GRCh37: 12:88514869-88514873 GRCh38: 12:88121092-88121096
2	CEP290	NM_025114.4(CEP290):c.4960C>T (p.Gln1654Ter)	SNV	Pathogenic	560436	rs1226324483	GRCh37: 12:88476860-88476860 GRCh38: 12:88083083-88083083
3	CEP290	NM_025114.4(CEP290):c.2249T>G (p.Leu750Ter)	SNV	Pathogenic	1338	rs137852833	GRCh37: 12:88505097-88505097 GRCh38: 12:88111320-88111320
4	CEP290	NM_025114.4(CEP290):c.5344C>T (p.Arg1782Ter)	SNV	Pathogenic	217636	rs575767207	GRCh37: 12:88472889-88472889 GRCh38: 12:88079112-88079112
5	CEP290	NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter)	SNV	Pathogenic Pathogenic	217626	rs539400286	GRCh37: 12:88479860-88479860 GRCh38: 12:88086083-88086083
6	CEP290	NM_025114.4(CEP290):c.1078C>T (p.Arg360Ter)	SNV	Pathogenic	530911	rs776645403	GRCh37: 12:88519134-88519134 GRCh38: 12:88125357-88125357
7	CEP290	NM_025114.4(CEP290):c.133_136del (p.Gln45fs)	DEL	Pathogenic	1213970		GRCh37: 12:88534777-88534780 GRCh38: 12:88141000-88141003
8	CEP290	NM_025114.4(CEP290):c.5580del (p.Leu1861fs)	DEL	Pathogenic	817139	rs1592807018	GRCh37: 12:88471480-88471480 GRCh38: 12:88077703-88077703
9	CEP290	NM_025114.4(CEP290):c.384_387del (p.Asp128fs)	DEL	Pathogenic	56738	rs386834157	GRCh37: 12:88530474-88530477 GRCh38: 12:88136697-88136700
10	CEP290	NM_025114.4(CEP290):c.1711+1G>A	SNV	Pathogenic	156377	rs587783009	GRCh37: 12:88512259-88512259 GRCh38: 12:88118482-88118482
11	CEP290	NM_025114.4(CEP290):c.3904C>T (p.Gln1302Ter)	SNV	Pathogenic	156385	rs587783016	GRCh37: 12:88482934-88482934 GRCh38: 12:88089157-88089157
12	CEP290	NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter)	SNV	Pathogenic	217639	rs749439750	GRCh37: 12:88478545-88478545 GRCh38: 12:88084768-88084768
13	CEP290	NM_025114.4(CEP290):c.6869dup (p.Asn2290fs)	DUP	Pathogenic	156386	rs587783017	GRCh37: 12:88449443-88449444 GRCh38: 12:88055666-88055667
14	CEP290	NM_025114.4(CEP290):c.613C>T (p.Arg205Ter)	SNV	Pathogenic	1342	rs137852835	GRCh37: 12:88524101-88524101 GRCh38: 12:88130324-88130324
15	CEP290	NM_025114.4(CEP290):c.1666del (p.Ile556fs)	DEL	Pathogenic	217622	rs727503855	GRCh37: 12:88512305-88512305 GRCh38: 12:88118528-88118528
16	CEP290	NM_025114.4(CEP290):c.2390del (p.Lys797fs)	DEL	Pathogenic	438223	rs781670422	GRCh37: 12:88502936-88502936 GRCh38: 12:88109159-88109159
17	CEP290	NM_025114.4(CEP290):c.4966G>T (p.Glu1656Ter)	SNV	Pathogenic	99857	rs62638179	GRCh37: 12:88476854-88476854 GRCh38: 12:88083077-88083077
18	CEP290	NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter)	SNV	Pathogenic	56733	rs386834152	GRCh37: 12:88508265-88508265 GRCh38: 12:88114488-88114488
19	CEP290	NM_025114.4(CEP290):c.2991+1655A>G	SNV	Pathogenic Pathogenic/Likely Pathogenic	1337	rs281865192	GRCh37: 12:88494960-88494960 GRCh38: 12:88101183-88101183
20	CEP290	NM_025114.4(CEP290):c.1219_1220del (p.Met407fs)	MICROSAT	Pathogenic	56729	rs386834148	GRCh37: 12:88514913-88514914 GRCh38: 12:88121136-88121137
21	CEP290	NM_025114.4(CEP290):c.2248_2249del (p.Leu750fs)	DEL	Pathogenic	156378	rs587783010	GRCh37: 12:88505097-88505098 GRCh38: 12:88111320-88111321
22	CEP290	NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter)	SNV	Pathogenic	217635	rs376493409	GRCh37: 12:88476938-88476938 GRCh38: 12:88083161-88083161
23	CEP290	NM_025114.4(CEP290):c.5493del (p.Ala1832fs)	DEL	Pathogenic	56739	rs386834158	GRCh37: 12:88471567-88471567 GRCh38: 12:88077790-88077790
24	CEP290	NM_025114.4(CEP290):c.6798G>A (p.Trp2266Ter)	SNV	Pathogenic	497937	rs760540562	GRCh37: 12:88452645-88452645 GRCh38: 12:88058868-88058868
25	CEP290	NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)	SNV	Pathogenic	1333	rs137852832	GRCh37: 12:88471040-88471040 GRCh38: 12:88077263-88077263
26	CEP290	NM_025114.4(CEP290):c.1429C>T (p.Arg477Ter)	SNV	Pathogenic	523768	rs1170451277	GRCh37: 12:88513984-88513984 GRCh38: 12:88120207-88120207
27	CEP290	NM_025114.4(CEP290):c.322C>T (p.Arg108Ter)	SNV	Pathogenic	654881	rs1290241933	GRCh37: 12:88530539-88530539 GRCh38: 12:88136762-88136762
28	CEP290	NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter)	SNV	Pathogenic Pathogenic	1339	rs137852834	GRCh37: 12:88477713-88477713 GRCh38: 12:88083936-88083936
29	CEP290	NM_025114.4(CEP290):c.1066-1G>A	SNV	Pathogenic	439474	rs965522059	GRCh37: 12:88519147-88519147 GRCh38: 12:88125370-88125370
30	CEP290	NM_025114.4(CEP290):c.6604del (p.Ile2202fs)	DEL	Pathogenic/Likely Pathogenic	197597	rs758329611	GRCh37: 12:88453716-88453716 GRCh38: 12:88059939-88059939
31	CEP290	NM_025114.4(CEP290):c.4813-2A>G	SNV	Likely Pathogenic	432415	rs369523378	GRCh37: 12:88477009-88477009 GRCh38: 12:88083232-88083232
32	CEP290	NM_025114.4(CEP290):c.6919_6920del (p.Glu2307fs)	MICROSAT	Likely Pathogenic	960022	rs1177923180	GRCh37: 12:88449393-88449394 GRCh38: 12:88055616-88055617
33	CEP290	NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter)	SNV	Likely Pathogenic	197044	rs370119681	GRCh37: 12:88474003-88474003 GRCh38: 12:88080226-88080226
34	CEP290	NM_025114.4(CEP290):c.6277del (p.Val2093fs)	DEL	Likely Pathogenic	217621	rs771454167	GRCh37: 12:88456549-88456549 GRCh38: 12:88062772-88062772
35	CEP290	NM_025114.4(CEP290):c.4437+1G>A	SNV	Likely Pathogenic	285948	rs760915898	GRCh37: 12:88479815-88479815 GRCh38: 12:88086038-88086038
36	CEP290	NM_025114.4(CEP290):c.1523-412C>T	SNV	Likely Pathogenic	1065719		GRCh37: 12:88512932-88512932 GRCh38: 12:88119155-88119155
37	CEP290	NM_025114.4(CEP290):c.3085G>T (p.Glu1029Ter)	SNV	Likely Pathogenic	1179041		GRCh37: 12:88490683-88490683 GRCh38: 12:88096906-88096906
38	CEP290	NM_025114.4(CEP290):c.297+1G>A	SNV	Likely Pathogenic	829993	rs878853360	GRCh37: 12:88532921-88532921 GRCh38: 12:88139144-88139144
39	CEP290	NM_025114.4(CEP290):c.734_735del (p.Glu245fs)	MICROSAT	Likely Pathogenic	804466	rs1592671672	GRCh37: 12:88523588-88523589 GRCh38: 12:88129811-88129812
40	CEP290	NM_025114.4(CEP290):c.829G>T (p.Glu277Ter)	SNV	Likely Pathogenic	813995	rs45502896	GRCh37: 12:88523494-88523494 GRCh38: 12:88129717-88129717
41	CEP290	NM_025114.4(CEP290):c.4243G>T (p.Glu1415Ter)	SNV	Likely Pathogenic	212730	rs797044604	GRCh37: 12:88480227-88480227 GRCh38: 12:88086450-88086450
42	CEP290	NM_025114.4(CEP290):c.4028del (p.Lys1343fs)	DEL	Likely Pathogenic	618559	rs1213286417	GRCh37: 12:88482810-88482810 GRCh38: 12:88089033-88089033
43	CEP290	NM_025114.4(CEP290):c.4438-3del	DEL	Conflicting Interpretations Of Pathogenicity	449448	rs747323414	GRCh37: 12:88478632-88478632 GRCh38: 12:88084855-88084855
44	CEP290	NM_025114.4(CEP290):c.3709C>T (p.Arg1237Cys)	SNV	Uncertain Significance	880644	rs768864296	GRCh37: 12:88483129-88483129 GRCh38: 12:88089352-88089352
45	CEP290	NM_025114.4(CEP290):c.2348A>G (p.Tyr783Cys)	SNV	Uncertain Significance	880839	rs780990839	GRCh37: 12:88504998-88504998 GRCh38: 12:88111221-88111221
46	CEP290	NM_025114.4(CEP290):c.1142A>G (p.Asn381Ser)	SNV	Uncertain Significance	881057	rs1295338042	GRCh37: 12:88519070-88519070 GRCh38: 12:88125293-88125293
47	CEP290	NM_025114.4(CEP290):c.671C>T (p.Thr224Ile)	SNV	Uncertain Significance	881099	rs200587974	GRCh37: 12:88523652-88523652 GRCh38: 12:88129875-88129875
48	CEP290	NM_025114.4(CEP290):c.5285G>A (p.Arg1762His)	SNV	Uncertain Significance	881296	rs761763799	GRCh37: 12:88472948-88472948 GRCh38: 12:88079171-88079171
49	CEP290	NM_025114.4(CEP290):c.2306T>C (p.Ile769Thr)	SNV	Uncertain Significance	852603	rs199583200	GRCh37: 12:88505040-88505040 GRCh38: 12:88111263-88111263
50	CEP290	NM_025114.4(CEP290):c.4523G>A (p.Arg1508Gln)	SNV	Uncertain Significance	883013	rs568197175	GRCh37: 12:88478544-88478544 GRCh38: 12:88084767-88084767

Sources

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

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

#	Super pathways	Score	Top Affiliating Genes
1	Visual phototransduction ⁶⁶ Show member pathways Activation of the phototransduction cascade ⁶⁶ Defective SLC24A1 causes congenital stationary night blindness 1D (CSNB1D) ⁶⁶ Inactivation, recovery and regulation of the phototransduction cascade ⁶⁶ menaquinol-4 biosynthesis II ⁶¹ Metabolism of fat-soluble vitamins ⁶⁶ Metabolism of vitamin K ⁶⁶ Retinoid metabolism and transport ⁶⁶ retinol biosynthesis ⁶¹ The phototransduction cascade ⁶⁶ The retinoid cycle in cones (daylight vision) ⁶⁶ the visual cycle I (vertebrates) ⁶¹ Visual signal transduction: Rods ⁶¹ Vitamin E ⁶⁶	12.27	RPE65 RHO RDH12 GUCY2D GRK1 ABCA4
2	Ciliary landscape ⁷⁴	12.09	SPATA7 RPGR LCA5 IQCB1 CEP290
3	Bardet-Biedl syndrome ⁷⁴ Show member pathways Genes related to primary cilium development (based on CRISPR) ⁷⁴	11.84	LCA5 IQCB1 CRX CEP290
4	Visual Cycle in Retinal Rods ⁶⁴	11.53	RPE65 RHO RDH12 GUCY2D GRK1
5	Diseases of the neuronal system ⁶⁶ Show member pathways Biosynthesis of A2E, implicated in retinal degradation ⁶⁶ Diseases associated with visual transduction ⁶⁶ Retinoid cycle disease events ⁶⁶ The canonical retinoid cycle in rods (twilight vision) ⁶⁶	11.46	RPE65 RHO RDH12 ABCA4
6	Retinol metabolism (TR) ²² Show member pathways Ifosfamide Pathway, Pharmacokinetics ⁶⁰	11.26	RPE65 RHO RDH12
7	Ciliopathies ⁷⁴	11.22	TULP1 SPATA7 RPGRIP1 LCA5 IQCB1 CRX
8	Retinol metabolism (WikiPathways) ⁷⁴	10.71	RPE65 RDH12
9	Visual signal transduction: Cones ⁶¹	10.62	RPE65 RDH12 GUCY2D GRK1

Sources

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	cilium	GO:0005929	10.13	TULP1 RPGRIP1 RPGR LCA5 IQCB1 CEP290
2	ciliary basal body	GO:0036064	10.1	CEP290 LCA5 RPGR SPATA7 USH2A
3	photoreceptor connecting cilium	GO:0032391	10.03	CEP290 IQCB1 LCA5 RPGRIP1 SPATA7 USH2A
4	photoreceptor inner segment	GO:0001917	10	USH2A TULP1 RHO RDH12 RD3 CRB1
5	photoreceptor disc membrane	GO:0097381	9.92	RHO GUCY2D GRK1 ABCA4
6	rod photoreceptor outer segment	GO:0120200	9.85	SPATA7 RHO RD3
7	cell projection	GO:0042995	9.8	ABCA4 CEP290 CRB1 GRK1 GUCY2D LCA5
8	photoreceptor inner segment membrane	GO:0060342	9.78	RHO RDH12
9	photoreceptor distal connecting cilium	GO:0120206	9.76	SPATA7 RPGRIP1
10	photoreceptor outer segment	GO:0001750	9.58	TULP1 SPATA7 RPGR RHO RD3 IQCB1

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

(show all 15)

#	Name	GO ID	Score	Top Affiliating Genes
1	response to stimulus	GO:0050896	10.16	CRX AIPL1 ABCA4 GRK1 GUCY2D RD3
2	visual perception	GO:0007601	10.12	USH2A TULP1 SPATA7 RPGRIP1 RPGR RPE65
3	retina homeostasis	GO:0001895	9.99	TULP1 RPE65 AIPL1
4	retinoid metabolic process	GO:0001523	9.93	ABCA4 RDH12 RPE65
5	detection of light stimulus involved in visual perception	GO:0050908	9.91	TULP1 RPE65 CRB1
6	retina development in camera-type eye	GO:0060041	9.91	TULP1 RPGRIP1 RPE65 RHO RD3 CRB1
7	regulation of rhodopsin mediated signaling pathway	GO:0022400	9.88	GUCY2D GRK1 AIPL1
8	eye photoreceptor cell development	GO:0042462	9.87	CEP290 CRB1 RPGRIP1 TULP1
9	phototransduction, visible light	GO:0007603	9.85	RHO AIPL1 ABCA4
10	protein localization to photoreceptor outer segment	GO:1903546	9.83	TULP1 SPATA7
11	maintenance of animal organ identity	GO:0048496	9.8	USH2A IQCB1
12	rhodopsin mediated signaling pathway	GO:0016056	9.78	RHO GRK1
13	retina morphogenesis in camera-type eye	GO:0060042	9.72	RPE65 CRB1
14	sensory perception of light stimulus	GO:0050953	9.71	USH2A RHO
15	photoreceptor cell maintenance	GO:0045494	9.58	ABCA4 CRB1 IQCB1 LCA5 RDH12 RHO

Molecular functions related to Leber Congenital Amaurosis 10 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	11-cis retinal binding	GO:0005502	8.92	RHO ABCA4

Sources

Sources for Leber Congenital Amaurosis 10

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

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⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

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¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

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²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

LCA10 MCID: LBR005 MIFTS: 47	Leber Congenital Amaurosis 10 (LCA10) Categories: Eye diseases, Genetic diseases, Neuronal diseases	Data Licensing For inquiries, contact: [email protected]
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Leber Congenital Amaurosis 10 (LCA10)

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Expression for Leber Congenital Amaurosis 10

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

GO Terms for Leber Congenital Amaurosis 10

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

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

Molecular functions related to Leber Congenital Amaurosis 10 according to GeneCards Suite gene sharing:

Sources for Leber Congenital Amaurosis 10