LCA10
MCID: LBR005
MIFTS: 47

Leber Congenital Amaurosis 10 (LCA10)

Categories: Eye diseases, Genetic 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 11 73 28 12 5 43 14 71
Lca10 57 11 73
Leber Congenital Amaurosis, Type 10 38

Classifications:



External Ids:

Disease Ontology 11 DOID:0110291
OMIM® 57 611755
OMIM Phenotypic Series 57 PS204000
ICD10 31 H35.5
MedGen 40 C1857821
UMLS 71 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) (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.

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:



Diseases related to Leber Congenital Amaurosis 10

Symptoms & Phenotypes for Leber Congenital Amaurosis 10

Human phenotypes related to Leber Congenital Amaurosis 10:

30
# Description HPO Frequency Orphanet 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

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

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

Anatomical Context for Leber Congenital Amaurosis 10

Organs/tissues related to Leber Congenital Amaurosis 10:

MalaCards : Retina, Eye, Brain

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
17554762 2007
2
Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. 57 5
16909394 2006
3
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases. 5
33546218 2021
4
CEP290 Mutation Spectrum and Delineation of the Associated Phenotype in a Large German Cohort: A Monocentric Study. 5
31734136 2020
5
Trio-whole-exome sequencing and preimplantation genetic diagnosis for unexplained recurrent fetal malformations. 5
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
31091803 2019
7
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 5
28492532 2017
8
Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease. 5
28559085 2017
9
A Rare Form of Retinal Dystrophy Caused by Hypomorphic Nonsense Mutations in CEP290. 5
28829391 2017
10
Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center. 5
28497568 2017
11
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. 5
28041643 2017
12
Characterizing the morbid genome of ciliopathies. 5
27894351 2016
13
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 5
26092869 2015
14
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 5
25525159 2015
15
Antisense Oligonucleotide (AON)-based Therapy for Leber Congenital Amaurosis Caused by a Frequent Mutation in CEP290. 5
23343883 2012
16
Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies. 5
21866095 2011
17
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. 5
21068128 2011
18
Abnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutations. 57
20805370 2010
19
Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis. 5
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
17898177 2007
21
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. 5
17564974 2007
22
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. 5
17564967 2007
23
Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. 5
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
16632484 2006
25
Intravitreal antisense oligonucleotide sepofarsen in Leber congenital amaurosis type 10: a phase 1b/2 trial. 62
35379979 2022
26
Therapeutic Genome Editing and In Vivo Delivery. 62
34080099 2021
27
LEBER CONGENITAL AMAUROSIS DUE TO CEP290 MUTATIONS-SEVERE VISION IMPAIRMENT WITH A HIGH UNMET MEDICAL NEED: A Review. 62
33595255 2021
28
Toward the Treatment of Inherited Diseases of the Retina Using CRISPR-Based Gene Editing. 62
34660621 2021
29
Novel gene variants in Polish patients with Leber congenital amaurosis (LCA). 62
33308271 2020
30
Gene editing shows promise in LCA10. 62
30718824 2019
31
Development of a gene-editing approach to restore vision loss in Leber congenital amaurosis type 10. 62
30664785 2019
32
Spliceosome-Mediated Pre-mRNA trans-Splicing Can Repair CEP290 mRNA. 62
30195768 2018
33
Splice-Modulating Oligonucleotide QR-110 Restores CEP290 mRNA and Function in Human c.2991+1655A>G LCA10 Models. 62
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
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
29724251 2018
36
CRISPR/Cas9-Mediated Genome Editing as a Therapeutic Approach for Leber Congenital Amaurosis 10. 62
28109959 2017
37
Mouse Models as Tools to Identify Genetic Pathways for Retinal Degeneration, as Exemplified by Leber's Congenital Amaurosis. 62
27150101 2016
38
Leber Congenital Amaurosis – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY 62
20301475 2004

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

Expression for Leber Congenital Amaurosis 10

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

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
Show member pathways
12.27 RPE65 RHO RDH12 GUCY2D GRK1 ABCA4
2 12.09 SPATA7 RPGR LCA5 IQCB1 CEP290
3
Show member pathways
11.84 LCA5 IQCB1 CRX CEP290
4 11.53 RPE65 RHO RDH12 GUCY2D GRK1
5
Show member pathways
11.46 RPE65 RHO RDH12 ABCA4
6
Show member pathways
11.26 RPE65 RHO RDH12
7 11.22 TULP1 SPATA7 RPGRIP1 LCA5 IQCB1 CRX
8 10.71 RPE65 RDH12
9 10.62 RPE65 RDH12 GUCY2D GRK1

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 for Leber Congenital Amaurosis 10

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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