LCA6
MCID: LBR016
MIFTS: 47

Leber Congenital Amaurosis 6 (LCA6)

Categories: Eye diseases, Genetic diseases, Neuronal diseases
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Aliases & Classifications for Leber Congenital Amaurosis 6

MalaCards integrated aliases for Leber Congenital Amaurosis 6:

Name: Leber Congenital Amaurosis 6 57 11 73 28 5 43 14 71
Lca6 57 11 73
Leber Congenital Amaurosis, Type 6 38

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
progressive disease
congenital onset, vision limited to light perception since early childhood


Classifications:



External Ids:

Disease Ontology 11 DOID:0110329
OMIM® 57 613826
OMIM Phenotypic Series 57 PS204000
ICD10 31 H35.5
MedGen 40 C1854260
UMLS 71 C1854260

Summaries for Leber Congenital Amaurosis 6

OMIM®: 57 Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by Chung and Traboulsi, 2009). For a general description and a discussion of genetic heterogeneity of LCA, see 204000. (613826) (Updated 08-Dec-2022)

MalaCards based summary: Leber Congenital Amaurosis 6, also known as lca6, is related to night blindness and leber plus disease. An important gene associated with Leber Congenital Amaurosis 6 is RPGRIP1 (RPGR Interacting Protein 1), and among its related pathways/superpathways are Ciliary landscape and Bardet-Biedl syndrome. Affiliated tissues include retina, eye and bone, and related phenotypes are cataract and photophobia

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 early photophobia, hypermetropia less than +7 diopters, and visual acuity in the range of 20/400 to count fingers and has material basis in mutation in the RPGRIP1 gene on chromosome 14q11.

Related Diseases for Leber Congenital Amaurosis 6

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 6 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 88)
# Related Disease Score Top Affiliating Genes
1 night blindness 28.4 TULP1 RDH12 LRAT GUCY2D CRX CRB1
2 leber plus disease 26.8 TULP1 SPATA7 RPGRIP1 RDH12 MKS1 LRAT
3 cone-rod dystrophy 17 10.2 GUCY2D AIPL1
4 cone-rod dystrophy 13 10.2 SPATA7 RPGRIP1
5 retinitis pigmentosa 38 10.2 GUCY2D AIPL1
6 cone-rod dystrophy 6 10.2 RPGRIP1 GUCY2D
7 joubert syndrome 7 10.1 RPGRIP1 AIPL1
8 keratomalacia 10.1
9 pathologic nystagmus 10.1
10 encephalocele 10.1 MKS1 CEP290
11 meckel syndrome, type 4 10.1 MKS1 CEP290
12 joubert syndrome 2 10.1 MKS1 CEP290
13 renal-hepatic-pancreatic dysplasia 10.1 MKS1 CEP290
14 gapo syndrome 10.1 CRB1 AIPL1
15 joubert syndrome 5 10.0 MKS1 CEP290
16 retinitis pigmentosa 39 10.0 RPGRIP1 CEP290
17 simpson-golabi-behmel syndrome, type 2 10.0 RPGRIP1 LCA5 CEP290
18 chorioretinal scar 10.0 RDH12 CRB1
19 retinitis pigmentosa 12 10.0 CRB1 AIPL1
20 nephronophthisis 2 10.0 MKS1 CEP290
21 bardet-biedl syndrome 11 10.0 MKS1 CEP290
22 mckusick-kaufman syndrome 9.9 MKS1 CEP290
23 pigmented paravenous chorioretinal atrophy 9.9 GUCY2D CRB1 AIPL1
24 retinal cone dystrophy 1 9.9 GUCY2D CRX
25 partial central choroid dystrophy 9.9 GUCY2D CRX
26 hereditary choroidal atrophy 9.9 GUCY2D CRX
27 leber congenital amaurosis 12 9.9 SPATA7 LCA5 GUCY2D AIPL1
28 severe early-childhood-onset retinal dystrophy 9.9 SPATA7 LRAT LCA5
29 cone-rod dystrophy 3 9.9 GUCY2D CRX
30 coach syndrome 1 9.9 MKS1 CEP290
31 microphthalmia, syndromic 9 9.9 RDH12 LRAT
32 occult macular dystrophy 9.9 GUCY2D CRX
33 meckel syndrome, type 1 9.9 RPGRIP1 MKS1 LCA5 CEP290
34 usher syndrome, type iia 9.9 CRB1 CEP290 AIPL1
35 enophthalmos 9.9 GUCY2D CRB1 CEP290
36 choroid disease 9.9 GUCY2D CRB1 CEP290
37 refractive error 9.9 GUCY2D CRB1 CEP290
38 usher syndrome type 2 9.8 GUCY2D CRB1 CEP290
39 pseudoretinitis pigmentosa 9.8 TULP1 IMPDH1 CRB1
40 joubert syndrome 3 9.8 MKS1 CEP290
41 retinitis pigmentosa 9 9.8 IMPDH1 CRX
42 retinitis pigmentosa 1 9.8 IMPDH1 CRX
43 nephronophthisis 9.7 SPATA7 RPGRIP1 MKS1 LCA5 CEP290
44 physical disorder 9.7 GUCY2D CRB1 CEP290 AIPL1
45 hereditary retinal dystrophy 9.7 SPATA7 GUCY2D CRB1 CEP290
46 retinitis 9.7 TULP1 RPGRIP1 IMPDH1 CRB1
47 enhanced s-cone syndrome 9.5 GUCY2D CRX CRB1 AIPL1
48 choroidal dystrophy, central areolar, 1 9.5 GUCY2D CRX CRB1 AIPL1
49 degeneration of macula and posterior pole 9.5 LRAT CRX CRB1
50 stargardt disease 1 9.5 TULP1 RDH12 CRX CRB1

Graphical network of the top 20 diseases related to Leber Congenital Amaurosis 6:



Diseases related to Leber Congenital Amaurosis 6

Symptoms & Phenotypes for Leber Congenital Amaurosis 6

Human phenotypes related to Leber Congenital Amaurosis 6:

30 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cataract 30 HP:0000518
2 photophobia 30 HP:0000613
3 high hypermetropia 30 HP:0008499
4 keratoconus 30 HP:0000563
5 severely reduced visual acuity 30 HP:0001141
6 attenuation of retinal blood vessels 30 HP:0007843
7 pendular nystagmus 30 HP:0012043
8 undetectable electroretinogram 30 HP:0000550

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Eyes:
nystagmus
hyperopia
attenuated retinal vessels
nondetectable electroretinogram
poor vision (limited to light perception)
more

Clinical features from OMIM®:

613826 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Leber Congenital Amaurosis 6 according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability GR00386-A-1 8.62 CEP290 RDH12

MGI Mouse Phenotypes related to Leber Congenital Amaurosis 6:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.73 AIPL1 CEP290 CRB1 CRX GUCY2D LCA5
2 pigmentation MP:0001186 9.55 CEP290 CRB1 CRX LCA5 TULP1
3 vision/eye MP:0005391 9.44 AIPL1 CEP290 CRB1 CRX GUCY2D IMPDH1

Drugs & Therapeutics for Leber Congenital Amaurosis 6

Search Clinical Trials, NIH Clinical Center for Leber Congenital Amaurosis 6

Cochrane evidence based reviews: leber congenital amaurosis 6

Genetic Tests for Leber Congenital Amaurosis 6

Genetic tests related to Leber Congenital Amaurosis 6:

# Genetic test Affiliating Genes
1 Leber Congenital Amaurosis 6 28 RPGRIP1

Anatomical Context for Leber Congenital Amaurosis 6

Organs/tissues related to Leber Congenital Amaurosis 6:

MalaCards : Retina, Eye, Bone

Publications for Leber Congenital Amaurosis 6

Articles related to Leber Congenital Amaurosis 6:

(show all 35)
# Title Authors PMID Year
1
Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis. 57 5
11528500 2001
2
Null RPGRIP1 alleles in patients with Leber congenital amaurosis. 57 5
11283794 2001
3
Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic RPGRIP1 Pathologic Variant in the French Leber Congenital Amaurosis Cohort. 5
33670832 2021
4
Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients. 5
32865313 2020
5
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy. 5
31630094 2020
6
A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC). 5
31456290 2020
7
Contribution of noncoding pathogenic variants to RPGRIP1-mediated inherited retinal degeneration. 5
30072743 2019
8
Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory. 5
29754767 2018
9
Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing. 5
29844330 2018
10
Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration. 5
29343940 2018
11
Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis. 5
30576320 2018
12
Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance. 5
28714225 2017
13
The genetic profile of Leber congenital amaurosis in an Australian cohort. 5
29178642 2017
14
Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease. 5
28559085 2017
15
Validation of copy number variation analysis for next-generation sequencing diagnostics. 5
28378820 2017
16
Targeted next generation sequencing identified novel mutations in RPGRIP1 associated with both retinitis pigmentosa and Leber's congenital amaurosis in unrelated Chinese patients. 5
28456785 2017
17
Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies. 5
28181551 2017
18
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. 5
28041643 2017
19
Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort. 5
26047050 2015
20
Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints. 5
25640679 2015
21
Diagnostic application of an extensive gene panel for Leber congenital amaurosis with severe genetic heterogeneity. 5
25445212 2015
22
Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay. 57
24997176 2014
23
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. 5
23105016 2013
24
Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis. 5
21602930 2011
25
Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa. 5
20079931 2010
26
Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions. 57
20006823 2009
27
Splicing in action: assessing disease causing sequence changes. 5
16199547 2005
28
Gene replacement therapy rescues photoreceptor degeneration in a murine model of Leber congenital amaurosis lacking RPGRIP. 57
16123399 2005
29
Limited proteolysis differentially modulates the stability and subcellular localization of domains of RPGRIP1 that are distinctly affected by mutations in Leber's congenital amaurosis. 5
15800011 2005
30
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. 5
15024725 2004
31
Ocular Characteristics of Patients with Leber Congenital Amaurosis 6 Caused by Pathogenic RPGRIP1 Gene Variation in a Chinese Cohort. 62
34796026 2021
32
Novel mutation identified in Leber congenital amaurosis - a case report. 62
32736544 2020
33
Leber congenital amaurosis caused by mutations in RPGRIP1. 62
25414380 2014
34
Identification of a novel LCA6 mutation in an Emirati family. 62
23278760 2013
35
Leber Congenital Amaurosis – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY 62
20301475 2004

Variations for Leber Congenital Amaurosis 6

ClinVar genetic disease variations for Leber Congenital Amaurosis 6:

5 (show top 50) (show all 639)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RPGRIP1 NM_020366.4(RPGRIP1):c.194G>A (p.Trp65Ter) SNV Pathogenic
4983 rs137853124 GRCh37: 14:21762944-21762944
GRCh38: 14:21294785-21294785
2 RPGRIP1 NM_020366.4(RPGRIP1):c.1892A>T (p.His631Leu) SNV Pathogenic
156380 rs535922252 GRCh37: 14:21792906-21792906
GRCh38: 14:21324747-21324747
3 RPGRIP1 NM_020366.4(RPGRIP1):c.2356C>T (p.Gln786Ter) SNV Pathogenic
156388 rs587783019 GRCh37: 14:21793531-21793531
GRCh38: 14:21325372-21325372
4 RPGRIP1 NC_000014.9:g.(?_21317696)_(21320177_?)del DEL Pathogenic
832960 GRCh37: 14:21785855-21788336
GRCh38:
5 RPGRIP1 NM_020366.4(RPGRIP1):c.1892A>G (p.His631Arg) SNV Pathogenic
Pathogenic
834237 rs535922252 GRCh37: 14:21792906-21792906
GRCh38: 14:21324747-21324747
6 RPGRIP1 NM_020366.4(RPGRIP1):c.801-25_843del DEL Pathogenic
587394 rs1566674809 GRCh37: 14:21775863-21775930
GRCh38: 14:21307704-21307771
7 RPGRIP1 NM_020366.4(RPGRIP1):c.1468-263G>C SNV Pathogenic
814006 rs1594202505 GRCh37: 14:21789155-21789155
GRCh38: 14:21320996-21320996
8 RPGRIP1 NM_020366.4(RPGRIP1):c.3238+1G>A SNV Pathogenic
814008 rs1325103400 GRCh37: 14:21798547-21798547
GRCh38: 14:21330388-21330388
9 RPGRIP1 NM_020366.4(RPGRIP1):c.895_896del (p.Glu299fs) DEL Pathogenic
814018 rs1594180177 GRCh37: 14:21775983-21775984
GRCh38: 14:21307824-21307825
10 RPGRIP1 NM_020366.4(RPGRIP1):c.1303A>T (p.Lys435Ter) SNV Pathogenic
236506 rs878853392 GRCh37: 14:21786006-21786006
GRCh38: 14:21317847-21317847
11 RPGRIP1 NM_020366.4(RPGRIP1):c.511del (p.Tyr171fs) DEL Pathogenic
99825 rs61751265 GRCh37: 14:21770667-21770667
GRCh38: 14:21302508-21302508
12 RPGRIP1 NM_020366.4(RPGRIP1):c.2876del (p.Lys959fs) DEL Pathogenic
191284 rs786205623 GRCh37: 14:21795944-21795944
GRCh38: 14:21327785-21327785
13 RPGRIP1 NM_020366.4(RPGRIP1):c.3339+2477_3533-151del DEL Pathogenic
981633 GRCh37: 14:21805341-21813121
GRCh38: 14:21337182-21344962
14 RPGRIP1 NM_020366.4(RPGRIP1):c.2895+1G>T SNV Pathogenic
Pathogenic
981634 rs748072501 GRCh37: 14:21795967-21795967
GRCh38: 14:21327808-21327808
15 RPGRIP1 NM_020366.4(RPGRIP1):c.2895+1G>A SNV Pathogenic
981635 rs748072501 GRCh37: 14:21795967-21795967
GRCh38: 14:21327808-21327808
16 RPGRIP1 NM_020366.4(RPGRIP1):c.2710+1G>A SNV Pathogenic
981636 rs1883084009 GRCh37: 14:21794333-21794333
GRCh38: 14:21326174-21326174
17 RPGRIP1 NM_020366.4(RPGRIP1):c.1133dup (p.Tyr378Ter) DUP Pathogenic
981639 rs1391335025 GRCh37: 14:21780646-21780647
GRCh38: 14:21312487-21312488
18 RPGRIP1 NM_020366.4(RPGRIP1):c.1687C>T (p.Arg563Ter) SNV Pathogenic
981641 rs776963292 GRCh37: 14:21790088-21790088
GRCh38: 14:21321929-21321929
19 RPGRIP1 NM_020366.4(RPGRIP1):c.2086G>T (p.Glu696Ter) SNV Pathogenic
981642 rs1882904268 GRCh37: 14:21793100-21793100
GRCh38: 14:21324941-21324941
20 RPGRIP1 NM_020366.4(RPGRIP1):c.2239del (p.Val747fs) DEL Pathogenic
981643 rs1882946937 GRCh37: 14:21793411-21793411
GRCh38: 14:21325252-21325252
21 RPGRIP1 NM_020366.4(RPGRIP1):c.2567_2568dup (p.Val857fs) DUP Pathogenic
523527 rs1555302200 GRCh37: 14:21794188-21794189
GRCh38: 14:21326029-21326030
22 RPGRIP1 NM_020366.4(RPGRIP1):c.2890del (p.Ser964fs) DEL Pathogenic
438162 rs1555302710 GRCh37: 14:21795960-21795960
GRCh38: 14:21327801-21327801
23 RPGRIP1 NM_020366.4(RPGRIP1):c.3239-1_3241del DEL Pathogenic
981645 rs1884133804 GRCh37: 14:21802761-21802764
GRCh38: 14:21334602-21334605
24 RPGRIP1 NM_020366.4(RPGRIP1):c.3427del (p.Tyr1143fs) DEL Pathogenic
981646 rs1885186332 GRCh37: 14:21811282-21811282
GRCh38: 14:21343123-21343123
25 RPGRIP1 NC_000014.8:g.(?_21798388)_(21798566_?)del DEL Pathogenic
1073082 GRCh37: 14:21798388-21798566
GRCh38:
26 RPGRIP1 NM_020366.4(RPGRIP1):c.2775G>A (p.Trp925Ter) SNV Pathogenic
Pathogenic
95949 rs398124354 GRCh37: 14:21795846-21795846
GRCh38: 14:21327687-21327687
27 RPGRIP1 NM_020366.4(RPGRIP1):c.2441del (p.Arg814fs) DEL Pathogenic
865870 rs1739469293 GRCh37: 14:21794063-21794063
GRCh38: 14:21325904-21325904
28 RPGRIP1 NM_020366.4(RPGRIP1):c.663dup (p.Asn222Ter) DUP Pathogenic
1357904 GRCh37: 14:21771564-21771565
GRCh38: 14:21303405-21303406
29 RPGRIP1 NM_020366.4(RPGRIP1):c.2935C>T (p.Gln979Ter) SNV Pathogenic
812426 rs1371805993 GRCh37: 14:21796622-21796622
GRCh38: 14:21328463-21328463
30 RPGRIP1 NM_020366.4(RPGRIP1):c.1867C>T (p.Gln623Ter) SNV Pathogenic
1387428 GRCh37: 14:21792881-21792881
GRCh38: 14:21324722-21324722
31 RPGRIP1 NM_020366.4(RPGRIP1):c.2024del (p.Leu675fs) DEL Pathogenic
1369938 GRCh37: 14:21793038-21793038
GRCh38: 14:21324879-21324879
32 RPGRIP1 NM_020366.4(RPGRIP1):c.2308_2311del (p.Lys770fs) MICROSAT Pathogenic
1395639 GRCh37: 14:21793478-21793481
GRCh38: 14:21325319-21325322
33 RPGRIP1 NM_020366.4(RPGRIP1):c.1145T>A (p.Leu382Ter) SNV Pathogenic
1382627 GRCh37: 14:21780659-21780659
GRCh38: 14:21312500-21312500
34 RPGRIP1 NM_020366.4(RPGRIP1):c.3617+1G>T SNV Pathogenic
1436742 GRCh37: 14:21813357-21813357
GRCh38: 14:21345198-21345198
35 RPGRIP1 NM_020366.4(RPGRIP1):c.3275_3276dup (p.Ala1093fs) DUP Pathogenic
1437865 GRCh37: 14:21802799-21802800
GRCh38: 14:21334640-21334641
36 RPGRIP1 NM_020366.4(RPGRIP1):c.1930C>T (p.Gln644Ter) SNV Pathogenic
1455614 GRCh37: 14:21792944-21792944
GRCh38: 14:21324785-21324785
37 RPGRIP1 NM_020366.4(RPGRIP1):c.282_283dup (p.Ala95fs) DUP Pathogenic
1459285 GRCh37: 14:21769187-21769188
GRCh38: 14:21301028-21301029
38 RPGRIP1 NC_000014.8:g.(?_21756136)_(21756240_?)del DEL Pathogenic
1459438 GRCh37: 14:21756136-21756240
GRCh38:
39 RPGRIP1 NM_020366.4(RPGRIP1):c.767C>G (p.Ser256Ter) SNV Pathogenic
1455333 GRCh37: 14:21771669-21771669
GRCh38: 14:21303510-21303510
40 RPGRIP1 NM_020366.4(RPGRIP1):c.1995T>A (p.Cys665Ter) SNV Pathogenic
1452635 GRCh37: 14:21793009-21793009
GRCh38: 14:21324850-21324850
41 RPGRIP1 NM_020366.4(RPGRIP1):c.898del (p.Val300fs) DEL Pathogenic
1451134 GRCh37: 14:21775987-21775987
GRCh38: 14:21307828-21307828
42 RPGRIP1 NM_020366.4(RPGRIP1):c.808_826del (p.Ser269_Ile270insTer) DEL Pathogenic
1451517 GRCh37: 14:21775896-21775914
GRCh38: 14:21307737-21307755
43 RPGRIP1 NC_000014.8:g.(?_21785835)_(21788356_?)del DEL Pathogenic
1456668 GRCh37: 14:21785835-21788356
GRCh38:
44 RPGRIP1 NM_020366.4(RPGRIP1):c.3610C>T (p.Gln1204Ter) SNV Pathogenic
1452857 GRCh37: 14:21813349-21813349
GRCh38: 14:21345190-21345190
45 RPGRIP1 NM_020366.4(RPGRIP1):c.2465_2468dup (p.Ala824fs) DUP Pathogenic
Pathogenic
857229 rs745741473 GRCh37: 14:21794086-21794087
GRCh38: 14:21325927-21325928
46 RPGRIP1 NM_020366.4(RPGRIP1):c.2781del (p.Tyr929fs) DEL Pathogenic
942879 rs1883254940 GRCh37: 14:21795850-21795850
GRCh38: 14:21327691-21327691
47 RPGRIP1 NM_020366.4(RPGRIP1):c.521del (p.Pro174fs) DEL Pathogenic
963824 rs1881077003 GRCh37: 14:21770674-21770674
GRCh38: 14:21302515-21302515
48 RPGRIP1 NM_020366.4(RPGRIP1):c.832C>T (p.Arg278Ter) SNV Pathogenic
Pathogenic
156387 rs587783018 GRCh37: 14:21775921-21775921
GRCh38: 14:21307762-21307762
49 RPGRIP1 NM_020366.4(RPGRIP1):c.1792C>T (p.Arg598Ter) SNV Pathogenic
Likely Pathogenic
489168 rs775935766 GRCh37: 14:21792806-21792806
GRCh38: 14:21324647-21324647
50 RPGRIP1 NM_020366.4(RPGRIP1):c.3487dup (p.Arg1163fs) DUP Pathogenic
964527 rs1885194108 GRCh37: 14:21811340-21811341
GRCh38: 14:21343181-21343182

UniProtKB/Swiss-Prot genetic disease variations for Leber Congenital Amaurosis 6:

73
# Symbol AA change Variation ID SNP ID
1 RPGRIP1 p.Gly746Glu VAR_017833 rs61751268
2 RPGRIP1 p.Asp1114Gly VAR_017836 rs17103671
3 RPGRIP1 p.His631Pro VAR_067186
4 RPGRIP1 p.Val1211Glu VAR_076823

Expression for Leber Congenital Amaurosis 6

Search GEO for disease gene expression data for Leber Congenital Amaurosis 6.

Pathways for Leber Congenital Amaurosis 6

Pathways related to Leber Congenital Amaurosis 6 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.88 SPATA7 MKS1 LCA5 CEP290
2
Show member pathways
11.59 MKS1 LCA5 CRX CEP290
3 11.47 RDH12 LRAT GUCY2D
4 11.22 TULP1 SPATA7 RPGRIP1 MKS1 LCA5 CRX
5
Show member pathways
11.09 RDH12 LRAT
6 11.03 RDH12 LRAT
7 10.62 RDH12 LRAT
8 10.49 RDH12 LRAT GUCY2D

GO Terms for Leber Congenital Amaurosis 6

Cellular components related to Leber Congenital Amaurosis 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ciliary basal body GO:0036064 10.03 SPATA7 MKS1 LCA5 CEP290
2 axoneme GO:0005930 9.95 SPATA7 RPGRIP1 LCA5
3 cilium GO:0005929 9.95 TULP1 RPGRIP1 MKS1 LCA5 CEP290
4 photoreceptor outer segment GO:0001750 9.8 TULP1 SPATA7 GUCY2D CRB1
5 ciliary transition zone GO:0035869 9.77 RPGRIP1 MKS1 CEP290
6 MKS complex GO:0036038 9.76 MKS1 CEP290
7 photoreceptor inner segment GO:0001917 9.76 TULP1 RDH12 CRB1 AIPL1
8 photoreceptor distal connecting cilium GO:0120206 9.62 RPGRIP1 SPATA7
9 photoreceptor connecting cilium GO:0032391 9.56 SPATA7 RPGRIP1 LCA5 CEP290
10 cell projection GO:0042995 9.28 TULP1 SPATA7 RPGRIP1 MKS1 LCA5 GUCY2D

Biological processes related to Leber Congenital Amaurosis 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor cell maintenance GO:0045494 9.85 CRB1 LCA5 RDH12 SPATA7 TULP1
2 non-motile cilium assembly GO:1905515 9.8 RPGRIP1 MKS1 CEP290
3 eye photoreceptor cell development GO:0042462 9.8 TULP1 RPGRIP1 CRB1 CEP290
4 detection of light stimulus involved in visual perception GO:0050908 9.76 TULP1 CRB1
5 regulation of rhodopsin mediated signaling pathway GO:0022400 9.73 GUCY2D AIPL1
6 retina development in camera-type eye GO:0060041 9.71 TULP1 RPGRIP1 CRB1
7 response to stimulus GO:0050896 9.7 TULP1 SPATA7 RPGRIP1 RDH12 LRAT GUCY2D
8 protein localization to photoreceptor outer segment GO:1903546 9.67 TULP1 SPATA7
9 visual perception GO:0007601 9.55 TULP1 SPATA7 RPGRIP1 RDH12 LRAT GUCY2D

Sources for Leber Congenital Amaurosis 6

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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