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LCA10
MCID: LBR005
MIFTS: 45

Leber Congenital Amaurosis 10 (LCA10)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Leber Congenital Amaurosis 10

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MalaCards integrated aliases for Leber Congenital Amaurosis 10:

Name: Leber Congenital Amaurosis 10 56 12 52 73 29 13 6 15 71
Lca10 56 12 52 73
Amaurosis Congenita of Leber, Type 10 52
Leber Congenital Amaurosis, Type 10 39
Leber Congenital Amaurosis Type 10 52

Characteristics:

HPO:

31
leber congenital amaurosis 10:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Eye diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:0110291
OMIM 56 611755
OMIM Phenotypic Series 56 PS204000
MeSH 43 D057130
ICD10 32 H35.5
MedGen 41 C1857821
UMLS 71 C1857821
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Summaries for Leber Congenital Amaurosis 10

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OMIM : 56 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 inherited retinal disorder and fundus dystrophy. An important gene associated with Leber Congenital Amaurosis 10 is CEP290 (Centrosomal Protein 290), and among its related pathways/superpathways are Phototransduction and Visual Cycle in Retinal Rods. 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

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 : 73 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

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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 112)
# Related Disease Score Top Affiliating Genes
1 inherited retinal disorder 26.0 TULP1 SPATA7 RPGRIP1 RPGR RPE65 RDH12
2 fundus dystrophy 24.6 TULP1 SPATA7 RPGRIP1 RPGR RPE65 RDH12
3 leber plus disease 24.6 TULP1 SPATA7 RPGRIP1 RPGR RPE65 RDH12
4 senior-loken syndrome 6 10.5 CEP290 C12orf29
5 simpson-golabi-behmel syndrome, type 2 10.4 LCA5 CEP290
6 nephronophthisis 11 10.4 IQCB1 CEP290
7 nephronophthisis 19 10.4 RPGR CEP290
8 nephronophthisis 12 10.4 IQCB1 CEP290
9 nephronophthisis 7 10.4 IQCB1 CEP290
10 meckel syndrome, type 4 10.4 CEP290 C12orf29
11 nephronophthisis 16 10.4 IQCB1 CEP290
12 joubert syndrome 5 10.4 CEP290 C12orf29
13 red-green color blindness 10.4 RPGR RPE65
14 enophthalmos 10.4 GUCY2D CEP290
15 retinitis pigmentosa 20 10.3 RPGR RPE65
16 nephronophthisis 14 10.3 IQCB1 CEP290
17 retinitis pigmentosa 25 10.3 RPGR LCA5
18 retinal aplasia 10.3 IQCB1 CEP290 C12orf29
19 cone-rod dystrophy 17 10.3 GUCY2D AIPL1
20 retinitis pigmentosa 35 10.3 RPGR RDH12
21 cone-rod dystrophy 12 10.3 GUCY2D AIPL1
22 renal-hepatic-pancreatic dysplasia 10.3 IQCB1 CEP290
23 nephronophthisis 9 10.3 IQCB1 CEP290
24 cranioectodermal dysplasia 1 10.3 RPGR IQCB1 CEP290
25 leber congenital amaurosis / early-onset severe retinal dystrophy 10.2 RPE65 CEP290 AIPL1
26 night blindness 10.2 RPGR RPE65 GUCY2D
27 visceral heterotaxy 10.2 RPGR IQCB1 CEP290
28 solar retinopathy 10.2 RDH12 CRB1
29 chorioretinal scar 10.2 RDH12 CRB1
30 peripheral retinal degeneration 10.2 RPGR IMPDH1
31 cone-rod dystrophy 1 10.2 RPGRIP1 RPGR
32 retinitis pigmentosa 14 10.2 TULP1 RPGR
33 cone-rod dystrophy 8 10.2 LCA5 GUCY2D AIPL1
34 bietti crystalline corneoretinal dystrophy 10.2 RPGR RPE65
35 bestrophinopathy, autosomal recessive 10.2 RPE65 CRB1
36 retinitis pigmentosa 12 10.2 RPGR CRB1
37 gyrate atrophy of choroid and retina 10.1 RPGR RPE65
38 joubert syndrome 7 10.1 RPGRIP1 CEP290
39 retinitis pigmentosa 17 10.1 RPGR IMPDH1
40 macular dystrophy, dominant cystoid 10.1 RPE65 CRB1
41 nanophthalmos 10.1 RPE65 LCA5 CRB1
42 late-onset retinal degeneration 10.1 RPGR RPE65 CRB1
43 severe early-childhood-onset retinal dystrophy 10.1 SPATA7 RPE65 LCA5
44 alstrom syndrome 10.1 RPGR CEP290
45 joubert syndrome 4 10.0 CNTLN CEP290
46 cone dystrophy 10.0 RPGR RPE65 GUCY2D CEP290
47 retinitis pigmentosa 10 10.0 RPGR IMPDH1
48 retinitis pigmentosa 3 10.0 RPGRIP1 RPGR IQCB1
49 scotoma 9.9 RPGR RPE65 GUCY2D CRB1
50 choroid disease 9.8 RPGR RPE65 GUCY2D CEP290 AIPL1

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



Diseases related to Leber Congenital Amaurosis 10
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Symptoms & Phenotypes for Leber Congenital Amaurosis 10

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Human phenotypes related to Leber Congenital Amaurosis 10:

31
# Description HPO Frequency HPO Source Accession
1 seizure 31 very rare (1%) HP:0001250
2 visual impairment 31 HP:0000505
3 hyposmia 31 HP:0004409

Clinical features from OMIM:

611755

MGI Mouse Phenotypes related to Leber Congenital Amaurosis 10:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.93 AIPL1 CEP290 CRB1 CRX GUCY2D LCA5
2 pigmentation MP:0001186 9.5 CEP290 CRB1 CRX LCA5 RPE65 RPGR
3 vision/eye MP:0005391 9.44 AIPL1 CEP290 CRB1 CRX GUCY2D IMPDH1
Sources

Drugs & Therapeutics for Leber Congenital Amaurosis 10

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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 1, Phase 2 52-90-4 5862

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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 Recruiting NCT03913143 Phase 2, Phase 3 sepofarsen
2 Open-Label, Single Ascending Dose Study to Evaluate the Safety, Tolerability, and Efficacy of AGN-151587 (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") Recruiting NCT03872479 Phase 1, Phase 2 AGN-151587
3 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
4 Natural History Study of CEP290-Related Retinal Degeneration Active, not recruiting NCT03396042

Search NIH Clinical Center for Leber Congenital Amaurosis 10

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Genetic Tests for Leber Congenital Amaurosis 10

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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

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MalaCards organs/tissues related to Leber Congenital Amaurosis 10:

40
Retina, Eye, Brain
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Publications for Leber Congenital Amaurosis 10

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Articles related to Leber Congenital Amaurosis 10:

(show all 23)
# 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. 6 56
17554762 2007
2
Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. 56 6
16909394 2006
3
Leber Congenital Amaurosis – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY 6 61
20301475 2004
4
Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview 6
30285347 2018
5
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. 6
23105016 2013
6
Genetics and molecular basis of human peroxisome biogenesis disorders. 6
22871920 2012
7
Abnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutations. 56
20805370 2010
8
Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons. 56
17898177 2007
9
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. 6
17564974 2007
10
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. 6
17564967 2007
11
Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. 6
17345604 2007
12
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. 56
16632484 2006
13
Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotype. 6
10384394 1999
14
Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. 6
9398847 1997
15
Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders. 6
9398848 1997
16
Gene editing shows promise in LCA10. 61
30718824 2019
17
Development of a gene-editing approach to restore vision loss in Leber congenital amaurosis type 10. 61
30664785 2019
18
Splice-Modulating Oligonucleotide QR-110 Restores CEP290 mRNA and Function in Human c.2991+1655A>G LCA10 Models. 61
30114557 2018
19
Spliceosome-Mediated Pre-mRNA trans-Splicing Can Repair CEP290 mRNA. 61
30195768 2018
20
Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease. 61
29771326 2018
21
Meta-analysis of GWAS on both Chinese and European populations identifies GPR173 as a novel X chromosome susceptibility gene for SLE. 61
29724251 2018
22
CRISPR/Cas9-Mediated Genome Editing as a Therapeutic Approach for Leber Congenital Amaurosis 10. 61
28109959 2017
23
Mouse Models as Tools to Identify Genetic Pathways for Retinal Degeneration, as Exemplified by Leber's Congenital Amaurosis. 61
27150101 2016
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Variations for Leber Congenital Amaurosis 10

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ClinVar genetic disease variations for Leber Congenital Amaurosis 10:

6 (show top 50) (show all 158) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CEP290 NM_025114.4(CEP290):c.1066-1G>ASNV Pathogenic 439474 rs965522059 12:88519147-88519147 12:88125370-88125370
2 CEP290 NM_025114.4(CEP290):c.1078C>T (p.Arg360Ter)SNV Pathogenic 530911 rs776645403 12:88519134-88519134 12:88125357-88125357
3 CEP290 NM_025114.4(CEP290):c.4960C>T (p.Gln1654Ter)SNV Pathogenic 560436 rs1226324483 12:88476860-88476860 12:88083083-88083083
4 CEP290 NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)SNV Pathogenic 1333 rs137852832 12:88471040-88471040 12:88077263-88077263
5 CEP290 NM_025114.4(CEP290):c.2991+1655A>GSNV Pathogenic 1337 rs281865192 12:88494960-88494960 12:88101183-88101183
6 CEP290 NM_025114.4(CEP290):c.2249T>G (p.Leu750Ter)SNV Pathogenic 1338 rs137852833 12:88505097-88505097 12:88111320-88111320
7 CEP290 NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter)SNV Pathogenic 1339 rs137852834 12:88477713-88477713 12:88083936-88083936
8 CEP290 CEP290, 4-BP DEL, 384TAGAdeletion Pathogenic 1340
9 CEP290 CEP290, 5-BP DEL, 1260TAAAGdeletion Pathogenic 1343
10 CEP290 NM_025114.4(CEP290):c.1711+1G>ASNV Pathogenic 156377 rs587783009 12:88512259-88512259 12:88118482-88118482
11 CEP290 NM_025114.4(CEP290):c.2248_2249del (p.Leu750fs)deletion Pathogenic 156378 rs587783010 12:88505097-88505098 12:88111320-88111321
12 CEP290 NM_025114.4(CEP290):c.3904C>T (p.Gln1302Ter)SNV Pathogenic 156385 rs587783016 12:88482934-88482934 12:88089157-88089157
13 CEP290 NM_025114.4(CEP290):c.6869dup (p.Asn2290fs)duplication Pathogenic 156386 rs587783017 12:88449443-88449444 12:88055666-88055667
14 CEP290 NM_025114.4(CEP290):c.5344C>T (p.Arg1782Ter)SNV Pathogenic 217636 rs575767207 12:88472889-88472889 12:88079112-88079112
15 CEP290 NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter)SNV Pathogenic 217635 rs376493409 12:88476938-88476938 12:88083161-88083161
16 CEP290 NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter)SNV Pathogenic 217626 rs539400286 12:88479860-88479860 12:88086083-88086083
17 CEP290 NM_025114.4(CEP290):c.1429C>T (p.Arg477Ter)SNV Pathogenic/Likely pathogenic 523768 rs1170451277 12:88513984-88513984 12:88120207-88120207
18 CEP290 NM_025114.4(CEP290):c.732_733AG[1] (p.Glu245fs)short repeat Likely pathogenic 804466 12:88523588-88523589 12:88129811-88129812
19 CEP290 NM_025114.4(CEP290):c.829G>T (p.Glu277Ter)SNV Likely pathogenic 813995 12:88523494-88523494 12:88129717-88129717
20 CEP290 NM_025114.4(CEP290):c.297+1G>ASNV Likely pathogenic 829993 12:88532921-88532921 12:88139144-88139144
21 CEP290 NM_025114.4(CEP290):c.4243G>T (p.Glu1415Ter)SNV Likely pathogenic 212730 rs797044604 12:88480227-88480227 12:88086450-88086450
22 CEP290 NM_025114.4(CEP290):c.1360-4T>GSNV Conflicting interpretations of pathogenicity 379430 rs200328638 12:88514057-88514057 12:88120280-88120280
23 CEP290 NM_025114.4(CEP290):c.1729C>T (p.Leu577=)SNV Conflicting interpretations of pathogenicity 388113 rs201295052 12:88510905-88510905 12:88117128-88117128
24 CEP290 NM_025114.4(CEP290):c.503G>A (p.Arg168His)SNV Conflicting interpretations of pathogenicity 310628 rs200063017 12:88524335-88524335 12:88130558-88130558
25 CEP290 NM_025114.4(CEP290):c.4293G>A (p.Ala1431=)SNV Conflicting interpretations of pathogenicity 310600 rs377614744 12:88480177-88480177 12:88086400-88086400
26 CEP290 NM_025114.4(CEP290):c.1623+10G>TSNV Conflicting interpretations of pathogenicity 310617 rs377529198 12:88512410-88512410 12:88118633-88118633
27 CEP290 NM_025114.4(CEP290):c.523C>A (p.Gln175Lys)SNV Conflicting interpretations of pathogenicity 376782 rs202159966 12:88524191-88524191 12:88130414-88130414
28 CEP290 NM_025114.4(CEP290):c.4237G>C (p.Asp1413His)SNV Conflicting interpretations of pathogenicity 96172 rs183655276 12:88480233-88480233 12:88086456-88086456
29 CEP290 NM_025114.4(CEP290):c.3465G>A (p.Leu1155=)SNV Conflicting interpretations of pathogenicity 136729 rs150138016 12:88484613-88484613 12:88090836-88090836
30 CEP290 NM_025114.4(CEP290):c.2090C>G (p.Ala697Gly)SNV Conflicting interpretations of pathogenicity 695268 12:88505598-88505598 12:88111821-88111821
31 CEP290 NM_025114.4(CEP290):c.5421A>G (p.Thr1807=)SNV Conflicting interpretations of pathogenicity 700299 12:88471639-88471639 12:88077862-88077862
32 CEP290 NM_025114.4(CEP290):c.5127G>T (p.Gln1709His)SNV Conflicting interpretations of pathogenicity 701271 12:88474058-88474058 12:88080281-88080281
33 CEP290 NM_025114.4(CEP290):c.2873C>T (p.Ser958Phe)SNV Conflicting interpretations of pathogenicity 700166 12:88496733-88496733 12:88102956-88102956
34 CEP290 NM_025114.4(CEP290):c.2638G>T (p.Ala880Ser)SNV Conflicting interpretations of pathogenicity 697728 12:88500631-88500631 12:88106854-88106854
35 CEP290 NM_025114.4(CEP290):c.6358-5C>TSNV Conflicting interpretations of pathogenicity 739559 12:88454776-88454776 12:88060999-88060999
36 CEP290 NM_025114.4(CEP290):c.4438-3deldeletion Conflicting interpretations of pathogenicity 449448 rs747323414 12:88478632-88478632 12:88084855-88084855
37 CEP290 NM_025114.4(CEP290):c.384T>C (p.Asp128=)SNV Conflicting interpretations of pathogenicity 461782 rs76267039 12:88530477-88530477 12:88136700-88136700
38 CEP290 NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly)SNV Conflicting interpretations of pathogenicity 143156 rs77778467 12:88452656-88452656 12:88058879-88058879
39 CEP290 NM_025114.4(CEP290):c.3654T>C (p.Leu1218=)SNV Conflicting interpretations of pathogenicity 196714 rs201838492 12:88483184-88483184 12:88089407-88089407
40 CEP290 NM_025114.4(CEP290):c.226G>A (p.Ala76Thr)SNV Conflicting interpretations of pathogenicity 166841 rs373913704 12:88533296-88533296 12:88139519-88139519
41 CEP290 NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln)SNV Conflicting interpretations of pathogenicity 166838 rs188164241 12:88519133-88519133 12:88125356-88125356
42 CEP290 NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr)SNV Conflicting interpretations of pathogenicity 166829 rs117852025 12:88454728-88454728 12:88060951-88060951
43 CEP290 NM_025114.4(CEP290):c.5055G>A (p.Ala1685=)SNV Conflicting interpretations of pathogenicity 166834 rs73192874 12:88474130-88474130 12:88080353-88080353
44 CEP290 NM_025114.4(CEP290):c.1522+6C>TSNV Conflicting interpretations of pathogenicity 194563 rs148446546 12:88513885-88513885 12:88120108-88120108
45 CEP290 NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys)SNV Conflicting interpretations of pathogenicity 195989 rs182369459 12:88496626-88496626 12:88102849-88102849
46 CEP290 NM_025114.4(CEP290):c.251-11T>ASNV Conflicting interpretations of pathogenicity 235736 rs200666995 12:88532979-88532979 12:88139202-88139202
47 CEP290 NM_025114.4(CEP290):c.6870T>C (p.Asn2290=)SNV Conflicting interpretations of pathogenicity 241587 rs572443869 12:88449443-88449443 12:88055666-88055666
48 CEP290 NM_025114.4(CEP290):c.1092T>G (p.Ile364Met)SNV Conflicting interpretations of pathogenicity 281250 rs201988582 12:88519120-88519120 12:88125343-88125343
49 CEP290 NM_025114.4(CEP290):c.4476A>G (p.Glu1492=)SNV Conflicting interpretations of pathogenicity 282379 rs181248369 12:88478591-88478591 12:88084814-88084814
50 CEP290 NM_025114.4(CEP290):c.6116A>G (p.Asp2039Gly)SNV Conflicting interpretations of pathogenicity 283803 rs192259143 12:88462318-88462318 12:88068541-88068541
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Expression for Leber Congenital Amaurosis 10

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

# Super pathways Score Top Affiliating Genes
1
Phototransduction 36
Show member pathways
 11.32 RPE65 RDH12 GUCY2D
2
Visual Cycle in Retinal Rods 63
10.77 RPE65 RDH12 GUCY2D
Sources

GO Terms for Leber Congenital Amaurosis 10

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

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.95 SPATA7 RPGR LCA5 IQCB1 CNTLN CEP290
2 cell projection GO:0042995 9.87 TULP1 SPATA7 RPGRIP1 RPGR LCA5 GUCY2D
3 cilium GO:0005929 9.77 TULP1 RPGRIP1 RPGR LCA5 CEP290
4 microtubule organizing center GO:0005815 9.73 RPGR LCA5 IQCB1 CEP290
5 centriole GO:0005814 9.63 IQCB1 CNTLN CEP290
6 axoneme GO:0005930 9.58 SPATA7 RPGRIP1 LCA5
7 ciliary basal body GO:0036064 9.56 SPATA7 RPGR LCA5 CEP290
8 photoreceptor inner segment GO:0001917 9.46 TULP1 RDH12 CRB1 AIPL1
9 photoreceptor outer segment GO:0001750 9.35 TULP1 SPATA7 RPGR IQCB1 GUCY2D
10 photoreceptor connecting cilium GO:0032391 9.02 SPATA7 RPGRIP1 LCA5 IQCB1 CEP290

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.81 TULP1 SPATA7 RPGRIP1 RPGR RPE65 RDH12
2 retina development in camera-type eye GO:0060041 9.62 TULP1 RPGRIP1 RPE65 CRB1
3 retina homeostasis GO:0001895 9.58 TULP1 RPE65 AIPL1
4 eye photoreceptor cell development GO:0042462 9.56 TULP1 RPGRIP1 CRB1 CEP290
5 detection of light stimulus involved in visual perception GO:0050908 9.54 TULP1 RPE65 CRB1
6 intraciliary transport GO:0042073 9.49 RPGR LCA5
7 regulation of rhodopsin mediated signaling pathway GO:0022400 9.48 GUCY2D AIPL1
8 retina morphogenesis in camera-type eye GO:0060042 9.46 RPE65 CRB1
9 protein localization to photoreceptor outer segment GO:1903546 9.43 TULP1 SPATA7
10 photoreceptor cell maintenance GO:0045494 9.43 TULP1 SPATA7 RDH12 LCA5 IQCB1 CRB1
11 visual perception GO:0007601 9.32 TULP1 SPATA7 RPGRIP1 RPGR RPE65 RDH12
Sources

Sources for Leber Congenital Amaurosis 10

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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