Leber Congenital Amaurosis 6 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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.

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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:

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Symptoms & Phenotypes for Leber Congenital Amaurosis 6

Human phenotypes related to Leber Congenital Amaurosis 6:

³⁰ (show all 8)

#	Description	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

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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

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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

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Anatomical Context for Leber Congenital Amaurosis 6

Organs/tissues related to Leber Congenital Amaurosis 6:

MalaCards : Retina, Eye, Bone

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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	Gerber S...Rozet JM	11528500	2001
2	Null RPGRIP1 alleles in patients with Leber congenital amaurosis. ⁵⁷ ⁵	Dryja TP...Berson EL	11283794	2001
3	Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic RPGRIP1 Pathologic Variant in the French Leber Congenital Amaurosis Cohort. ⁵	Perrault I...Rozet JM	33670832	2021
4	Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients. ⁵	Sallum JMF...Belfort R	32865313	2020
5	Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy. ⁵	Xu K...Li Y	31630094	2020
6	A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC). ⁵	Sharon D...Perlman I	31456290	2020
7	Contribution of noncoding pathogenic variants to RPGRIP1-mediated inherited retinal degeneration. ⁵	Jamshidi F...Bujakowska KM	30072743	2019
8	Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory. ⁵	Punj S...Richards CS	29754767	2018
9	Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing. ⁵	Hosono K...Hotta Y	29844330	2018
10	Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration. ⁵	Bryant L...Bennett J	29343940	2018
11	Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis. ⁵	Weisschuh N...Zobor D	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	Soens ZT...Chen R	28714225	2017
13	The genetic profile of Leber congenital amaurosis in an Australian cohort. ⁵	Thompson JA...Lamey TM	29178642	2017
14	Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease. ⁵	Stone EM...Tucker BA	28559085	2017
15	Validation of copy number variation analysis for next-generation sequencing diagnostics. ⁵	Ellingford JM...Black GC	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	Huang H...Liu X	28456785	2017
17	Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies. ⁵	Riera M...Pomares E	28181551	2017
18	Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. ⁵	Carss KJ...Raymond FL	28041643	2017
19	Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort. ⁵	Wang H...Sui R	26047050	2015
20	Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints. ⁵	Newman S...Rudd MK	25640679	2015
21	Diagnostic application of an extensive gene panel for Leber congenital amaurosis with severe genetic heterogeneity. ⁵	Seong MW...Park SS	25445212	2015
22	Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay. ⁵⁷	Khan AO...Bolz HJ	24997176	2014
23	Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. ⁵	Abu-Safieh L...Alkuraya FS	23105016	2013
24	Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis. ⁵	Li L...Hejtmancik JF	21602930	2011
25	Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa. ⁵	Walia S...Stone EM	20079931	2010
26	Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions. ⁵⁷	Chung DC...Traboulsi EI	20006823	2009
27	Splicing in action: assessing disease causing sequence changes. ⁵	Baralle D...Baralle M	16199547	2005
28	Gene replacement therapy rescues photoreceptor degeneration in a murine model of Leber congenital amaurosis lacking RPGRIP. ⁵⁷	Pawlyk BS...Li T	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	Lu X...Ferreira PA	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	Hanein S...Kaplan J	15024725	2004
31	Ocular Characteristics of Patients with Leber Congenital Amaurosis 6 Caused by Pathogenic RPGRIP1 Gene Variation in a Chinese Cohort. ⁶²	Mao Y...Li S	34796026	2021
32	Novel mutation identified in Leber congenital amaurosis - a case report. ⁶²	Sato S...Nishida K	32736544	2020
33	Leber congenital amaurosis caused by mutations in RPGRIP1. ⁶²	Li T	25414380	2014
34	Identification of a novel LCA6 mutation in an Emirati family. ⁶²	Fakhratova M	23278760	2013
35	Leber Congenital Amaurosis – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY ⁶²	Weleber RG...Beattie C	20301475	2004

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Genes for Leber Congenital Amaurosis 6

Genes related to Leber Congenital Amaurosis 6 (1 elite genes):

(show all 13)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	RPGRIP1	RPGR Interacting Protein 1	Protein Coding	1340.52	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	11283794 11528500 15024725 (more) 15800011 16199547 20079931 21602930 23105016 25445212 26047050 28041643 28378820 28456785 28559085 28714225 29178642 29343940 29844330 30072743 30576320 31456290 31630094 32865313 33670832 25640679 28181551 29754767
2	MKS1	MKS Transition Zone Complex Subunit 1	Protein Coding	28.17	Likely pathogenic ⁵ DISEASES inferred ¹⁴
3	LCA5	Lebercilin LCA5	Protein Coding	7.95	DISEASES inferred ¹⁴
4	AIPL1	Aryl Hydrocarbon Receptor Interacting Protein Like 1	Protein Coding	7.42	DISEASES inferred ¹⁴
5	GUCY2D	Guanylate Cyclase 2D, Retinal	Protein Coding	7.24	DISEASES inferred ¹⁴
6	SPATA7	Spermatogenesis Associated 7	Protein Coding	7.14	DISEASES inferred ¹⁴
7	TULP1	TUB Like Protein 1	Protein Coding	7.06	DISEASES inferred ¹⁴
8	RDH12	Retinol Dehydrogenase 12	Protein Coding	6.92	DISEASES inferred ¹⁴
9	CEP290	Centrosomal Protein 290	Protein Coding	6.91	DISEASES inferred ¹⁴
10	CRB1	Crumbs Cell Polarity Complex Component 1	Protein Coding	6.88	DISEASES inferred ¹⁴
11	LRAT	Lecithin Retinol Acyltransferase	Protein Coding	6.76	DISEASES inferred ¹⁴
12	CRX	Cone-Rod Homeobox	Protein Coding	6.72	DISEASES inferred ¹⁴
13	IMPDH1	Inosine Monophosphate Dehydrogenase 1	Protein Coding	6.6	DISEASES inferred ¹⁴

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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

Sources

Expression for Leber Congenital Amaurosis 6

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

Sources

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	Ciliary landscape ⁷⁴	11.88	SPATA7 MKS1 LCA5 CEP290
2	Bardet-Biedl syndrome ⁷⁴ Show member pathways Genes related to primary cilium development (based on CRISPR) ⁷⁴	11.59	MKS1 LCA5 CRX CEP290
3	Visual Cycle in Retinal Rods ⁶⁴	11.47	RDH12 LRAT GUCY2D
4	Ciliopathies ⁷⁴	11.22	TULP1 SPATA7 RPGRIP1 MKS1 LCA5 CRX
5	Retinol metabolism (TR) ²² Show member pathways Ifosfamide Pathway, Pharmacokinetics ⁶⁰	11.09	RDH12 LRAT
6	Vitamin A and carotenoid metabolism ⁷⁴	11.03	RDH12 LRAT
7	Retinol metabolism (WikiPathways) ⁷⁴	10.62	RDH12 LRAT
8	Visual signal transduction: Cones ⁶¹	10.49	RDH12 LRAT GUCY2D

Sources

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

Sources for Leber Congenital Amaurosis 6

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

LCA6 MCID: LBR016 MIFTS: 47	Leber Congenital Amaurosis 6 (LCA6) Categories: Eye diseases, Genetic diseases, Neuronal diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Leber Congenital Amaurosis 6 (LCA6)

Aliases & Classifications for Leber Congenital Amaurosis 6

MalaCards integrated aliases for Leber Congenital Amaurosis 6:

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

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