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LCA10
MCID: LBR005
MIFTS: 44

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 57 12 20 72 29 13 6 15 70
Lca10 57 12 20 72
Amaurosis Congenita of Leber, Type 10 20
Leber Congenital Amaurosis, Type 10 39
Leber Congenital Amaurosis Type 10 20

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® 57 611755
OMIM Phenotypic Series 57 PS204000
MeSH 44 D057130
ICD10 32 H35.5
MedGen 41 C1857821
UMLS 70 C1857821
Sources

Summaries for Leber Congenital Amaurosis 10

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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 05-Apr-2021)

MalaCards based summary : Leber Congenital Amaurosis 10, also known as lca10, is related to leber plus 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 Phototransduction and Visual Cycle in Retinal Rods. The drug Cysteine has been mentioned in the context of this disorder. Affiliated tissues include retina and eye, 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 : 72 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 117)
# Related Disease Score Top Affiliating Genes
1 leber plus disease 26.1 TULP1 SPATA7 RPGRIP1 RPGR RPE65 RDH12
2 fundus dystrophy 25.9 TULP1 SPATA7 RPGRIP1 RPGR RPE65 RDH12
3 senior-loken syndrome 6 10.3 CEP290 C12orf29
4 simpson-golabi-behmel syndrome, type 2 10.3 LCA5 CEP290
5 nephronophthisis 7 10.3 IQCB1 CEP290
6 joubert syndrome 9 10.3 RPE65 CEP290
7 nephronophthisis 11 10.3 IQCB1 CEP290
8 red-green color blindness 10.3 RPGR RPE65
9 nephronophthisis 16 10.3 IQCB1 CEP290
10 cone-rod dystrophy 17 10.3 GUCY2D AIPL1
11 retinitis pigmentosa 20 10.3 RPGR RPE65
12 retinal aplasia 10.3 IQCB1 CEP290 C12orf29
13 nephronophthisis 14 10.2 IQCB1 CEP290
14 joubert syndrome 5 10.2 IQCB1 CEP290 C12orf29
15 cone-rod dystrophy 12 10.2 GUCY2D AIPL1
16 meckel syndrome, type 4 10.2 IQCB1 CEP290 C12orf29
17 retinitis pigmentosa 35 10.2 RPGR RDH12
18 bardet-biedl syndrome 14 10.2 IQCB1 CEP290 C12orf29
19 nephronophthisis 12 10.2 IQCB1 CEP290
20 nephronophthisis 19 10.2 RPGR IQCB1 CEP290
21 alstrom syndrome 10.2 RPGR IQCB1 CEP290
22 nephronophthisis 2 10.2 RPGR IQCB1 CEP290
23 cranioectodermal dysplasia 10.2 RPGR IQCB1 CEP290
24 solar retinopathy 10.2 RDH12 CRB1
25 leber congenital amaurosis / early-onset severe retinal dystrophy 10.2 RPE65 CEP290 AIPL1
26 renal-hepatic-pancreatic dysplasia 10.2 IQCB1 CEP290
27 chorioretinal scar 10.2 RDH12 CRB1
28 retinitis pigmentosa 63 10.2 SPATA7 CRX
29 severe early-childhood-onset retinal dystrophy 10.2 SPATA7 RPE65 LCA5
30 cone-rod dystrophy 8 10.2 LCA5 GUCY2D AIPL1
31 nephronophthisis 9 10.2 IQCB1 CEP290
32 bestrophinopathy, autosomal recessive 10.2 RPE65 CRB1
33 visceral heterotaxy 10.1 RPGR IQCB1 CEP290
34 inherited retinal disorder 10.1
35 retinitis pigmentosa 14 10.1 TULP1 RPGR
36 retinitis pigmentosa 25 10.1 RPGR LCA5 CRB1
37 cone-rod dystrophy 3 10.1 GUCY2D CRX
38 retinitis pigmentosa 28 10.1 RPGR LCA5 CRX
39 retinitis pigmentosa 38 10.1 TULP1 RPE65
40 nanophthalmos 10.1 RPE65 LCA5 CRB1
41 enhanced s-cone syndrome 10.1 RPGR RPE65 CRX
42 bietti crystalline corneoretinal dystrophy 10.1 RPGR RPE65
43 partial central choroid dystrophy 10.1 GUCY2D CRX AIPL1
44 hereditary choroidal atrophy 10.1 GUCY2D CRX AIPL1
45 joubert syndrome 7 10.1 RPGRIP1 CEP290
46 choroid disease 10.1 RPGR RPE65 GUCY2D CEP290
47 asphyxiating thoracic dystrophy 10.1 RPGR IQCB1 CEP290
48 joubert syndrome 3 10.1 SPATA7 RPGR IQCB1 CEP290
49 choroideremia 10.1 RPGR RPE65 GUCY2D CEP290
50 yemenite deaf-blind hypopigmentation syndrome 10.0 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 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Leber Congenital Amaurosis 10:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.97 AIPL1 CEP290 CRB1 CRX GUCY2D LCA5
2 pigmentation MP:0001186 9.5 CEP290 CRB1 CRX LCA5 RPE65 RPGR
3 vision/eye MP:0005391 9.47 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 2, Phase 3 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 Active, not recruiting NCT03913143 Phase 2, Phase 3 sepofarsen
2 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") Recruiting NCT03872479 Phase 1, Phase 2 EDIT-101
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

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
Sources

Anatomical Context for Leber Congenital Amaurosis 10

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MalaCards organs/tissues related to Leber Congenital Amaurosis 10:

40
Retina, Eye
Sources

Publications for Leber Congenital Amaurosis 10

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Articles related to Leber Congenital Amaurosis 10:

(show all 20)
# 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 57
17554762 2007
2
Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. 57 6
16909394 2006
3
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases. 6
33546218 2021
4
Abnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutations. 57
20805370 2010
5
Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons. 57
17898177 2007
6
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. 6
17564974 2007
7
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. 6
17564967 2007
8
Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. 6
17345604 2007
9
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
10
Leber Congenital Amaurosis Due to CEP290 Mutations - Severe Vision Impairment with a High Unmet Medical Need: A Review. 61
33595255 2021
11
Novel gene variants in Polish patients with Leber congenital amaurosis (LCA). 61
33308271 2020
12
Gene editing shows promise in LCA10. 61
30718824 2019
13
Development of a gene-editing approach to restore vision loss in Leber congenital amaurosis type 10. 61
30664785 2019
14
Spliceosome-Mediated Pre-mRNA trans-Splicing Can Repair CEP290 mRNA. 61
30195768 2018
15
Splice-Modulating Oligonucleotide QR-110 Restores CEP290 mRNA and Function in Human c.2991+1655A>G LCA10 Models. 61
30114557 2018
16
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
17
Meta-analysis of GWAS on both Chinese and European populations identifies GPR173 as a novel X chromosome susceptibility gene for SLE. 61
29724251 2018
18
CRISPR/Cas9-Mediated Genome Editing as a Therapeutic Approach for Leber Congenital Amaurosis 10. 61
28109959 2017
19
Mouse Models as Tools to Identify Genetic Pathways for Retinal Degeneration, as Exemplified by Leber's Congenital Amaurosis. 61
27150101 2016
20
Leber Congenital Amaurosis – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY 61
20301475 2004
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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 166)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CEP290 NM_025114.4(CEP290):c.2249T>G (p.Leu750Ter) SNV Pathogenic 1338 rs137852833 GRCh37: 12:88505097-88505097
GRCh38: 12:88111320-88111320
2 CEP290 CEP290, 4-BP DEL, 384TAGA Deletion Pathogenic 1340 GRCh37:
GRCh38:
3 CEP290 CEP290, 5-BP DEL, 1260TAAAG Deletion Pathogenic 1343 GRCh37:
GRCh38:
4 CEP290 NM_025114.4(CEP290):c.1711+1G>A SNV Pathogenic 156377 rs587783009 GRCh37: 12:88512259-88512259
GRCh38: 12:88118482-88118482
5 CEP290 NM_025114.4(CEP290):c.3904C>T (p.Gln1302Ter) SNV Pathogenic 156385 rs587783016 GRCh37: 12:88482934-88482934
GRCh38: 12:88089157-88089157
6 CEP290 NM_025114.4(CEP290):c.6869dup (p.Asn2290fs) Duplication Pathogenic 156386 rs587783017 GRCh37: 12:88449443-88449444
GRCh38: 12:88055666-88055667
7 CEP290 NM_025114.4(CEP290):c.4960C>T (p.Gln1654Ter) SNV Pathogenic 560436 rs1226324483 GRCh37: 12:88476860-88476860
GRCh38: 12:88083083-88083083
8 CEP290 NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter) SNV Pathogenic 217626 rs539400286 GRCh37: 12:88479860-88479860
GRCh38: 12:88086083-88086083
9 CEP290 NM_025114.4(CEP290):c.1078C>T (p.Arg360Ter) SNV Pathogenic 530911 rs776645403 GRCh37: 12:88519134-88519134
GRCh38: 12:88125357-88125357
10 CEP290 NM_025114.4(CEP290):c.1066-1G>A SNV Pathogenic 439474 rs965522059 GRCh37: 12:88519147-88519147
GRCh38: 12:88125370-88125370
11 CEP290 NM_025114.4(CEP290):c.5344C>T (p.Arg1782Ter) SNV Pathogenic 217636 rs575767207 GRCh37: 12:88472889-88472889
GRCh38: 12:88079112-88079112
12 CEP290 NM_025114.4(CEP290):c.1429C>T (p.Arg477Ter) SNV Pathogenic 523768 rs1170451277 GRCh37: 12:88513984-88513984
GRCh38: 12:88120207-88120207
13 CEP290 NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter) SNV Pathogenic 217635 rs376493409 GRCh37: 12:88476938-88476938
GRCh38: 12:88083161-88083161
14 CEP290 NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter) SNV Pathogenic 1339 rs137852834 GRCh37: 12:88477713-88477713
GRCh38: 12:88083936-88083936
15 CEP290 NM_025114.4(CEP290):c.2248_2249del (p.Leu750fs) Deletion Pathogenic 156378 rs587783010 GRCh37: 12:88505097-88505098
GRCh38: 12:88111320-88111321
16 CEP290 NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) SNV Pathogenic 1333 rs137852832 GRCh37: 12:88471040-88471040
GRCh38: 12:88077263-88077263
17 CEP290 NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter) SNV Pathogenic 1339 rs137852834 GRCh37: 12:88477713-88477713
GRCh38: 12:88083936-88083936
18 CEP290 NM_025114.4(CEP290):c.2991+1655A>G SNV Pathogenic 1337 rs281865192 GRCh37: 12:88494960-88494960
GRCh38: 12:88101183-88101183
19 CEP290 NM_025114.4(CEP290):c.2991+1655A>G SNV Likely pathogenic 1337 rs281865192 GRCh37: 12:88494960-88494960
GRCh38: 12:88101183-88101183
20 CEP290 NM_025114.4(CEP290):c.829G>T (p.Glu277Ter) SNV Likely pathogenic 813995 rs45502896 GRCh37: 12:88523494-88523494
GRCh38: 12:88129717-88129717
21 CEP290 NM_025114.4(CEP290):c.6604del (p.Ile2202fs) Deletion Likely pathogenic 197597 rs758329611 GRCh37: 12:88453716-88453716
GRCh38: 12:88059939-88059939
22 CEP290 NM_025114.4(CEP290):c.4437+1G>A SNV Likely pathogenic 285948 rs760915898 GRCh37: 12:88479815-88479815
GRCh38: 12:88086038-88086038
23 CEP290 NM_025114.4(CEP290):c.4243G>T (p.Glu1415Ter) SNV Likely pathogenic 212730 rs797044604 GRCh37: 12:88480227-88480227
GRCh38: 12:88086450-88086450
24 CEP290 NM_025114.4(CEP290):c.732_733AG[1] (p.Glu245fs) Microsatellite Likely pathogenic 804466 rs1592671672 GRCh37: 12:88523588-88523589
GRCh38: 12:88129811-88129812
25 CEP290 NM_025114.4(CEP290):c.297+1G>A SNV Likely pathogenic 829993 rs878853360 GRCh37: 12:88532921-88532921
GRCh38: 12:88139144-88139144
26 CEP290 NM_025114.4(CEP290):c.3709C>T (p.Arg1237Cys) SNV Uncertain significance 880644 GRCh37: 12:88483129-88483129
GRCh38: 12:88089352-88089352
27 CEP290 NM_025114.4(CEP290):c.3176T>A (p.Ile1059Lys) SNV Uncertain significance 880716 GRCh37: 12:88487680-88487680
GRCh38: 12:88093903-88093903
28 CEP290 NM_025114.4(CEP290):c.2348A>G (p.Tyr783Cys) SNV Uncertain significance 880839 GRCh37: 12:88504998-88504998
GRCh38: 12:88111221-88111221
29 CEP290 NM_025114.4(CEP290):c.2216A>T (p.Lys739Met) SNV Uncertain significance 880902 GRCh37: 12:88505472-88505472
GRCh38: 12:88111695-88111695
30 CEP290 NM_025114.4(CEP290):c.1142A>G (p.Asn381Ser) SNV Uncertain significance 881057 GRCh37: 12:88519070-88519070
GRCh38: 12:88125293-88125293
31 CEP290 NM_025114.4(CEP290):c.671C>T (p.Thr224Ile) SNV Uncertain significance 881099 GRCh37: 12:88523652-88523652
GRCh38: 12:88129875-88129875
32 CEP290 NM_025114.4(CEP290):c.6870T>C (p.Asn2290=) SNV Uncertain significance 241587 rs572443869 GRCh37: 12:88449443-88449443
GRCh38: 12:88055666-88055666
33 CEP290 NM_025114.4(CEP290):c.6358-5C>T SNV Uncertain significance 739559 rs372986399 GRCh37: 12:88454776-88454776
GRCh38: 12:88060999-88060999
34 CEP290 NM_025114.4(CEP290):c.5607T>C (p.Asn1869=) SNV Uncertain significance 881239 GRCh37: 12:88471101-88471101
GRCh38: 12:88077324-88077324
35 CEP290 NM_025114.4(CEP290):c.5127G>T (p.Gln1709His) SNV Uncertain significance 701271 rs757738553 GRCh37: 12:88474058-88474058
GRCh38: 12:88080281-88080281
36 CEP290 NM_025114.4(CEP290):c.6694A>G (p.Ile2232Val) SNV Uncertain significance 881609 GRCh37: 12:88452749-88452749
GRCh38: 12:88058972-88058972
37 CEP290 NM_025114.4(CEP290):c.5285G>A (p.Arg1762His) SNV Uncertain significance 881296 GRCh37: 12:88472948-88472948
GRCh38: 12:88079171-88079171
38 CEP290 NM_025114.4(CEP290):c.4555A>G (p.Ile1519Val) SNV Uncertain significance 881846 GRCh37: 12:88478512-88478512
GRCh38: 12:88084735-88084735
39 CEP290 NM_025114.4(CEP290):c.3581C>T (p.Ser1194Phe) SNV Uncertain significance 882063 GRCh37: 12:88483257-88483257
GRCh38: 12:88089480-88089480
40 CEP290 NM_025114.4(CEP290):c.3152A>T (p.Asp1051Val) SNV Uncertain significance 882117 GRCh37: 12:88487704-88487704
GRCh38: 12:88093927-88093927
41 CEP290 NM_025114.4(CEP290):c.2638G>T (p.Ala880Ser) SNV Uncertain significance 697728 rs147362398 GRCh37: 12:88500631-88500631
GRCh38: 12:88106854-88106854
42 CEP290 NM_025114.4(CEP290):c.2306T>C (p.Ile769Thr) SNV Uncertain significance 852603 GRCh37: 12:88505040-88505040
GRCh38: 12:88111263-88111263
43 CEP290 NM_025114.4(CEP290):c.2090C>G (p.Ala697Gly) SNV Uncertain significance 695268 rs200454865 GRCh37: 12:88505598-88505598
GRCh38: 12:88111821-88111821
44 CEP290 NM_025114.4(CEP290):c.384T>C (p.Asp128=) SNV Uncertain significance 461782 rs76267039 GRCh37: 12:88530477-88530477
GRCh38: 12:88136700-88136700
45 CEP290 NM_025114.4(CEP290):c.343A>G (p.Asn115Asp) SNV Uncertain significance 198264 rs140236736 GRCh37: 12:88530518-88530518
GRCh38: 12:88136741-88136741
46 CEP290 NM_025114.4(CEP290):c.6566G>T (p.Ser2189Ile) SNV Uncertain significance 882769 GRCh37: 12:88453754-88453754
GRCh38: 12:88059977-88059977
47 CEP290 NM_025114.4(CEP290):c.6493A>T (p.Asn2165Tyr) SNV Uncertain significance 882770 GRCh37: 12:88454636-88454636
GRCh38: 12:88060859-88060859
48 CEP290 NM_025114.4(CEP290):c.54G>C (p.Leu18=) SNV Uncertain significance 881610 GRCh37: 12:88535031-88535031
GRCh38: 12:88141254-88141254
49 CEP290 NM_025114.4(CEP290):c.5814T>C (p.Thr1938=) SNV Uncertain significance 882813 GRCh37: 12:88465599-88465599
GRCh38: 12:88071822-88071822
50 CEP290 NM_025114.4(CEP290):c.5421A>G (p.Thr1807=) SNV Uncertain significance 700299 rs370464321 GRCh37: 12:88471639-88471639
GRCh38: 12:88077862-88077862
Sources

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
 11.33 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 cell projection GO:0042995 9.91 TULP1 SPATA7 RPGRIP1 RPGR RD3 LCA5
2 cilium GO:0005929 9.8 TULP1 RPGRIP1 RPGR LCA5 IQCB1 CEP290
3 microtubule organizing center GO:0005815 9.73 RPGR LCA5 IQCB1 CEP290
4 ciliary basal body GO:0036064 9.67 SPATA7 RPGR LCA5 CEP290
5 axoneme GO:0005930 9.58 SPATA7 RPGRIP1 LCA5
6 photoreceptor inner segment GO:0001917 9.55 TULP1 RDH12 RD3 CRB1 AIPL1
7 photoreceptor connecting cilium GO:0032391 9.35 SPATA7 RPGRIP1 LCA5 IQCB1 CEP290
8 photoreceptor outer segment GO:0001750 9.17 TULP1 SPATA7 RPGR RD3 IQCB1 GUCY2D

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 9.85 TULP1 SPATA7 RPGRIP1 RPGR RPE65 RDH12
2 retina development in camera-type eye GO:0060041 9.72 TULP1 RPGRIP1 RPE65 RD3 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 9.36 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 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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