Leber Congenital Amaurosis 8 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. (613835) (Updated 08-Dec-2022)

MalaCards based summary: Leber Congenital Amaurosis 8, also known as lca8, is related to retinitis pigmentosa 12 and retinitis. An important gene associated with Leber Congenital Amaurosis 8 is CRB1 (Crumbs Cell Polarity Complex Component 1), and among its related pathways/superpathways are Visual phototransduction and Ciliary landscape. Affiliated tissues include retina, eye and bone, and related phenotypes are nystagmus and reduced visual acuity

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 night blindness and thick unlaminated retinas and has material basis in mutation in the CRB1 gene on chromosome 1q31-q32.

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Related Diseases for Leber Congenital Amaurosis 8

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

(show top 50) (show all 85)

#	Related Disease	Score	Top Affiliating Genes
1	retinitis pigmentosa 12	29.8	PALS1 CRB2 CRB1 AIPL1
2	retinitis	29.7	TULP1 RPE65 IMPDH1 CRB1
3	retinal disease	29.5	RPE65 GUCY2D CRX CRB1 CEP290
4	leber plus disease	26.9	TULP1 SPATA7 RPE65 RDH12 PALS1 LRAT
5	fundus dystrophy	26.7	TULP1 SPATA7 RPE65 RDH12 PALS1 LRAT
6	retinitis pigmentosa	26.7	TULP1 SPATA7 RPE65 RDH12 PALS1 LRAT
7	optic disk drusen	10.2	CRB2 CRB1
8	inherited retinal disorder	10.2
9	cone-rod dystrophy 17	10.2	GUCY2D AIPL1
10	chorioretinal scar	10.2	RDH12 CRB1
11	gapo syndrome	10.2	CRB1 AIPL1
12	retinitis pigmentosa 38	10.2	GUCY2D AIPL1
13	pathologic nystagmus	10.1
14	retinal cone dystrophy 1	10.1	GUCY2D CRX
15	cone-rod dystrophy 3	10.1	GUCY2D CRX
16	pigmented paravenous chorioretinal atrophy	10.1	GUCY2D CRB1 AIPL1
17	simpson-golabi-behmel syndrome, type 2	10.1	LCA5 CEP290
18	occult macular dystrophy	10.1	GUCY2D CRX
19	cold-induced sweating syndrome 3	10.1	RPE65 GUCY2D
20	macular dystrophy, dominant cystoid	10.1	RPE65 CRB1
21	bestrophinopathy, autosomal recessive	10.0	RPE65 CRB1
22	retinitis pigmentosa 1	10.0	IMPDH1 CRX
23	scotoma	10.0	RPE65 GUCY2D
24	microphthalmia, syndromic 9	10.0	RDH12 LRAT
25	usher syndrome, type iia	10.0	CRB1 CEP290 AIPL1
26	enophthalmos	10.0	GUCY2D CRB1 CEP290
27	nanophthalmos	9.9	TULP1 RPE65 CRB1
28	macular retinal edema	9.9	RPE65 CRB1
29	retinitis pigmentosa 9	9.9	IMPDH1 CRX
30	pseudoretinitis pigmentosa	9.9	TULP1 IMPDH1 CRB1
31	partial central choroid dystrophy	9.9	RPE65 GUCY2D CRX
32	hereditary choroidal atrophy	9.9	RPE65 GUCY2D CRX
33	stargardt disease 1	9.9	TULP1 RDH12 CRX CRB1
34	gyrate atrophy of choroid and retina	9.8	RPE65 RDH12
35	retinitis pigmentosa 39	9.8	RPE65 CEP290
36	choroideremia	9.8	RPE65 GUCY2D CEP290
37	usher syndrome, type i	9.8	TULP1 RPE65 CEP290
38	sensory system disease	9.8	RPE65 CRX CRB1
39	severe early-childhood-onset retinal dystrophy	9.7	SPATA7 RPE65 LRAT LCA5
40	choroid disease	9.7	RPE65 GUCY2D CRB1 CEP290
41	refractive error	9.7	RPE65 GUCY2D CRB1 CEP290
42	usher syndrome type 2	9.7	RPE65 GUCY2D CRB1 CEP290
43	degeneration of macula and posterior pole	9.7	RPE65 LRAT CRX CRB1
44	leber congenital amaurosis 12	9.7	SPATA7 RPE65 LCA5 GUCY2D AIPL1
45	enhanced s-cone syndrome	9.6	RPE65 GUCY2D CRX CRB1 AIPL1
46	choroidal dystrophy, central areolar, 1	9.6	RPE65 GUCY2D CRX CRB1 AIPL1
47	nephronophthisis	9.6	SPATA7 LCA5 CEP290
48	physical disorder	9.6	RPE65 GUCY2D CRB1 CEP290 AIPL1
49	hereditary retinal dystrophy	9.5	SPATA7 RPE65 GUCY2D CRB1 CEP290
50	vitelliform macular dystrophy	9.5	RPE65 GUCY2D CRX CRB1 CEP290

Graphical network of the top 20 diseases related to Leber Congenital Amaurosis 8:

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Symptoms & Phenotypes for Leber Congenital Amaurosis 8

Human phenotypes related to Leber Congenital Amaurosis 8:

³⁰ (show all 11)

#	Description	HPO Frequency	HPO Source Accession
1	nystagmus ³⁰	Very rare (1%)	HP:0000639
2	reduced visual acuity ³⁰	Very rare (1%)	HP:0007663
3	high hypermetropia ³⁰	Very rare (1%)	HP:0008499
4	keratoconus ³⁰	Very rare (1%)	HP:0000563
5	macular coloboma ³⁰	Very rare (1%)	HP:0001116
6	undetectable electroretinogram ³⁰	Very rare (1%)	HP:0000550
7	eye poking ³⁰	Very rare (1%)	HP:0001483
8	nummular pigmentation of the fundus ³⁰	Very rare (1%)	HP:0030505
9	cataract ³⁰		HP:0000518
10	deeply set eye ³⁰		HP:0000490
11	choriocapillaris atrophy ³⁰		HP:0030491

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Head And Neck Eyes:
nystagmus
reduced visual acuity
enophthalmos
attenuated retinal vessels (in some patients)
bone spicule-like pigmentation
more

Clinical features from OMIM®:

613835 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Leber Congenital Amaurosis 8:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	nervous system	MP:0003631	9.77	AIPL1 CEP290 CRB1 CRB2 CRX GUCY2D
2	pigmentation	MP:0001186	9.7	CEP290 CRB1 CRB2 CRX LCA5 RPE65
3	vision/eye	MP:0005391	9.47	AIPL1 CEP290 CRB1 CRB2 CRX GUCY2D

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Drugs & Therapeutics for Leber Congenital Amaurosis 8

Search Clinical Trials, NIH Clinical Center for Leber Congenital Amaurosis 8

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Genetic Tests for Leber Congenital Amaurosis 8

Genetic tests related to Leber Congenital Amaurosis 8:

#	Genetic test	Affiliating Genes
1	Leber Congenital Amaurosis 8 ²⁸	CRB1

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Anatomical Context for Leber Congenital Amaurosis 8

Organs/tissues related to Leber Congenital Amaurosis 8:

MalaCards : Retina, Eye, Bone

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Publications for Leber Congenital Amaurosis 8

Articles related to Leber Congenital Amaurosis 8:

(show top 50) (show all 100)

#	Title	Authors	PMID	Year
1	A G1103R mutation in CRB1 is co-inherited with high hyperopia and Leber congenital amaurosis. ⁵⁷ ⁵	Abouzeid H...Sundin O	16543197	2006
2	Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. ⁵⁷ ⁵	Hanein S...Kaplan J	15024725	2004
3	Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene. ⁵⁷ ⁵	den Hollander AI...Cremers FP	11389483	2001
4	Mutations in the CRB1 gene cause Leber congenital amaurosis. ⁵⁷ ⁵	Lotery AJ...Stone EM	11231775	2001
5	Novel nonsense and splice site mutations in CRB1 gene in two Japanese patients with early-onset retinal dystrophy. ⁶² ⁵	Kuniyoshi K...Iwata T	25323024	2015
6	Clinical and Genetic Analysis of 63 Families Demonstrating Early and Advanced Characteristic Fundus as the Signature of CRB1 Mutations. ⁵	Wang Y...Zhang Q	33342761	2021
7	Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome. ⁵	Colombo L...Rossetti L	33576794	2021
8	Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases. ⁵	Maggi J...Berger W	33546218	2021
9	Clinical and genetic investigations of three Moroccan families with retinitis pigmentosa phenotypes. ⁵	Bouzidi A...Lenaers G	33633436	2021
10	Identifying haplotypes in recessive inherited retinal dystrophies using whole-genome linked-read sequencing. ⁵	Repo P...Turunen JA	32901921	2021
11	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
12	Unraveling the genetic cause of hereditary ophthalmic disorders in Arab societies from Israel and the Palestinian Authority. ⁵	Mayer AK...Wissinger B	31896775	2020
13	Genetic testing for inherited ocular conditions in a developing country. ⁵	Zanolli M...Iturriaga H	32141364	2020
14	DIFFUSE RETINAL VASCULAR LEAKAGE AND CONE-ROD DYSTROPHY IN A FAMILY WITH THE HOMOZYGOUS MISSENSE C.1429G>A (P.GLY477ARG) MUTATION IN CRB1. ⁵	Alsulaiman HM...Abu Safieh L	29200130	2020
15	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
16	Identification of CRB1 mutations in two Chinese consanguineous families exhibiting autosomal recessive retinitis pigmentosa. ⁵	Guo X...Gong B	31322236	2019
17	Genomic Landscape of Sporadic Retinitis Pigmentosa: Findings from 877 Spanish Cases. ⁵	Martin-Merida I...Ayuso C	30902645	2019
18	Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. ⁵	Jespersgaard C...Gronskov K	30718709	2019
19	Application of Whole Exome and Targeted Panel Sequencing in the Clinical Molecular Diagnosis of 319 Chinese Families with Inherited Retinal Dystrophy and Comparison Study. ⁵	Wang L...Yang L	30029497	2018
20	A clinical and molecular characterisation of CRB1-associated maculopathy. ⁵	Khan KN...UK Inherited Retinal Disease Consortium	29391521	2018
21	Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing. ⁵	Hosono K...Hotta Y	29844330	2018
22	Genetic profile and mutation spectrum of Leber congenital amaurosis in a larger Indian cohort using high throughput targeted re-sequencing. ⁵	Srikrupa NN...Soumittra N	29068479	2018
23	Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis. ⁵	Weisschuh N...Zobor D	30576320	2018
24	Retinal capillaritis in a CRB1-associated retinal dystrophy. ⁵	Murro V...Rizzo S	28129017	2017
25	The genetic profile of Leber congenital amaurosis in an Australian cohort. ⁵	Thompson JA...Lamey TM	29178642	2017
26	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
27	Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease. ⁵	Stone EM...Tucker BA	28559085	2017
28	The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes. ⁵	Motta FL...Sallum JMF	28819299	2017
29	Genotypic and Phenotypic Characteristics of CRB1-Associated Retinal Dystrophies: A Long-Term Follow-up Study. ⁵	Talib M...Boon CJF	28341475	2017
30	Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families. ⁵	Huang L...Yang Z	28512305	2017
31	Isolated maculopathy associated with biallelic CRB1 mutations. ⁵	Shah N...Leroy BP	27096895	2017
32	Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies. ⁵	Riera M...Pomares E	28181551	2017
33	Unravelling the genetic basis of simplex Retinitis Pigmentosa cases. ⁵	Bravo-Gil N...Antinolo G	28157192	2017
34	Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. ⁵	Carss KJ...Raymond FL	28041643	2017
35	Molecular findings from 537 individuals with inherited retinal disease. ⁵	Ellingford JM...Black GCM	27208204	2016
36	Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants. ⁵	Kousal B...Liskova P	27113771	2016
37	Retinal Dystrophy in 6 Young Patients Who Presented with Intermediate Uveitis. ⁵	Hettinga YM...de Boer JH	27157150	2016
38	Atypical presentation of CRB1 retinopathy. ⁵	Morarji J...Ashworth JL	26914788	2016
39	Molecular genetics of Leber congenital amaurosis in Chinese: New data from 66 probands and mutation overview of 159 probands. ⁵	Xu Y...Zhang Q	27375279	2016
40	Coat's like vasculopathy in leber congenital amaurosis secondary to homozygous mutations in CRB1: a case report and discussion of the management options. ⁵	Hasan SM...Megarbane A	26872607	2016
41	Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing. ⁵	de Castro-Miro M...Gonzalez-Duarte R	28005958	2016
42	Next-generation sequencing-based comprehensive molecular analysis of 43 Japanese patients with cone and cone-rod dystrophies. ⁵	Oishi M...Yoshimura N	26957898	2016
43	NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa. ⁵	Ge Z...Chen R	26667666	2015
44	Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort. ⁵	Wang H...Sui R	26047050	2015
45	Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing. ⁵	Huang XF...Jin ZB	25356976	2015
46	Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing. ⁵	Consugar MB...Pierce EA	25412400	2015
47	Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype-phenotype correlations and unexpected diagnostic revisions. ⁵	Zaneveld J...Chen R	25474345	2015
48	Mutation analysis of Leber congenital amaurosis‑associated genes in patients with retinitis pigmentosa. ⁵	Shen T...Zhang Q	25377065	2015
49	Retinal Dystrophy with Intraretinal Cystoid Spaces Associated with Mutations in the Crumbs Homologue (CRB1) Gene. ⁵	Cordovez JA...Levin AV	24512366	2015
50	Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing. ⁵	Xu Y...Zhang Q	24938718	2014

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Genes for Leber Congenital Amaurosis 8

Genes related to Leber Congenital Amaurosis 8 (1 elite genes):

(show all 14)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	CRB1	Crumbs Cell Polarity Complex Component 1	Protein Coding	1350.43	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)	1389483 2906847 9536098 (more) 10508521 11231775 11389483 12567265 12700176 15024725 15459956 16199547 16505055 16543197 17128490 17525851 17576681 17724218 17964524 18055816 18682808 19140180 19401883 19763152 20065226 20307669 20591486 20683928 20956273 21602930 21757580 22065545 22406018 22968130 23379534 23449718 23462753 23591405 23592920 23661368 23847139 24265693 24512366 24535598 24618324 24715753 24811962 24938718 25323024 25356976 25377065 25412400 26047050 26667666 26872607 26914788 26957898 27096895 27113771 27157150 27208204 28005958 28041643 28129017 28157192 28181551 28341475 28512305 28559085 28714225 28819299 29068479 29178642 29391521 29844330 30029497 30576320 30718709 30902645 31322236 31456290 31896775 32141364 33342761 33546218 33576794 33633436 22277662 23077403 25474345 27375279 29200130 31630094 32901921
2	LCA5	Lebercilin LCA5	Protein Coding	7.4	DISEASES inferred ¹⁴
3	CRB2	Crumbs Cell Polarity Complex Component 2	Protein Coding	7.32	DISEASES inferred ¹⁴
4	AIPL1	Aryl Hydrocarbon Receptor Interacting Protein Like 1	Protein Coding	7.17	DISEASES inferred ¹⁴
5	GUCY2D	Guanylate Cyclase 2D, Retinal	Protein Coding	7.08	DISEASES inferred ¹⁴
6	RDH12	Retinol Dehydrogenase 12	Protein Coding	6.76	DISEASES inferred ¹⁴
7	TULP1	TUB Like Protein 1	Protein Coding	6.72	DISEASES inferred ¹⁴
8	SPATA7	Spermatogenesis Associated 7	Protein Coding	6.7	DISEASES inferred ¹⁴
9	CRX	Cone-Rod Homeobox	Protein Coding	6.56	DISEASES inferred ¹⁴
10	LRAT	Lecithin Retinol Acyltransferase	Protein Coding	6.4	DISEASES inferred ¹⁴
11	RPE65	Retinoid Isomerohydrolase RPE65	Protein Coding	6.37	DISEASES inferred ¹⁴
12	IMPDH1	Inosine Monophosphate Dehydrogenase 1	Protein Coding	6.33	DISEASES inferred ¹⁴
13	PALS1	Protein Associated With LIN7 1, MAGUK P55 Family Member	Protein Coding	6.26	DISEASES inferred ¹⁴
14	CEP290	Centrosomal Protein 290	Protein Coding	6.2	DISEASES inferred ¹⁴

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Variations for Leber Congenital Amaurosis 8

ClinVar genetic disease variations for Leber Congenital Amaurosis 8:

⁵ (show top 50) (show all 1055)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	CRB1	NM_201253.3(CRB1):c.3299T>G (p.Ile1100Arg)	SNV	Pathogenic	5734	rs62635659	GRCh37: 1:197404292-197404292 GRCh38: 1:197435162-197435162
2	CRB1	NM_201253.3(CRB1):c.3997G>T (p.Glu1333Ter)	SNV	Pathogenic	5735	rs137853136	GRCh37: 1:197411414-197411414 GRCh38: 1:197442284-197442284
3	CRB1	NM_201253.3(CRB1):c.998G>A (p.Gly333Asp)	SNV	Pathogenic	156384	rs587783015	GRCh37: 1:197325970-197325970 GRCh38: 1:197356840-197356840
4	CRB1	NC_000001.11:g.(?_197268413)_(197357013_?)del	DEL	Pathogenic	830603		GRCh37: 1:197237543-197326143 GRCh38:
5	overlap with 3 genes	NC_000001.11:g.(?_197084314)_(197478465_?)del	DEL	Pathogenic	830716		GRCh37: 1:197053444-197447595 GRCh38:
6	CRB1	NC_000001.11:g.(?_197438537)_(197442544_?)del	DEL	Pathogenic	831883		GRCh37: 1:197407667-197411674 GRCh38:
7	CRB1		INSERT	Pathogenic	870263		GRCh37: GRCh38:
8	CRB1	NM_201253.3(CRB1):c.3395_3879-490del	DEL	Pathogenic	940575		GRCh37: 1:197404386-197410804 GRCh38: 1:197435256-197441674
9	CRB1	NM_201253.3(CRB1):c.410del (p.Pro137fs)	DEL	Pathogenic	587386	rs1558057153	GRCh37: 1:197297889-197297889 GRCh38: 1:197328759-197328759
10	CRB1	NM_201253.3(CRB1):c.70+1G>A	SNV	Pathogenic	587387	rs1237424465	GRCh37: 1:197237613-197237613 GRCh38: 1:197268483-197268483
11	CRB1	NM_201253.3(CRB1):c.2072G>A (p.Trp691Ter)	SNV	Pathogenic	587388	rs1558127317	GRCh37: 1:197391030-197391030 GRCh38: 1:197421900-197421900
12	CRB1	NC_000001.11:g.(?_197268194)_(197268492_?)del	DEL	Pathogenic	646396		GRCh37: 1:197237324-197237622 GRCh38: 1:197268194-197268492
13	CRB1	NM_201253.3(CRB1):c.799_800delinsA (p.Ala267fs)	INDEL	Pathogenic	287179	rs886043587	GRCh37: 1:197313557-197313558 GRCh38: 1:197344427-197344428
14	CRB1	NM_201253.3(CRB1):c.3143_3154delinsA (p.Thr1048fs)	INDEL	Pathogenic	971038	rs1665066272	GRCh37: 1:197404136-197404147 GRCh38: 1:197435006-197435017
15	CRB1	NM_201253.3(CRB1):c.1148G>A (p.Cys383Tyr)	SNV	Pathogenic Pathogenic	99866	rs62645754	GRCh37: 1:197326120-197326120 GRCh38: 1:197356990-197356990
16	CRB1	NM_201253.3(CRB1):c.1148_1149dup (p.Ile384fs)	DUP	Pathogenic	973906	rs1660517312	GRCh37: 1:197326118-197326119 GRCh38: 1:197356988-197356989
17	CRB1	NM_201253.3(CRB1):c.1971del (p.Asn657fs)	DEL	Pathogenic	973908	rs1664343244	GRCh37: 1:197390929-197390929 GRCh38: 1:197421799-197421799
18	CRB1	NM_201253.3(CRB1):c.2243del (p.Pro748fs)	DEL	Pathogenic	973911	rs1664651786	GRCh37: 1:197396697-197396697 GRCh38: 1:197427567-197427567
19	CRB1	NM_201253.3(CRB1):c.2853dup (p.Ala952fs)	DUP	Pathogenic	99891	rs281865173	GRCh37: 1:197403845-197403846 GRCh38: 1:197434715-197434716
20	CRB1	NM_201253.3(CRB1):c.3462_3463del (p.Cys1154_Glu1155delinsTer)	MICROSAT	Pathogenic Pathogenic	801600	rs1571557864	GRCh37: 1:197404453-197404454 GRCh38: 1:197435323-197435324
21	CRB1	NM_201253.3(CRB1):c.4005+1G>A	SNV	Pathogenic	812303	rs890453675	GRCh37: 1:197411423-197411423 GRCh38: 1:197442293-197442293
22	CRB1	NM_201253.3(CRB1):c.691C>T (p.Gln231Ter)	SNV	Pathogenic Pathogenic	973923	rs1659642763	GRCh37: 1:197313449-197313449 GRCh38: 1:197344319-197344319
23	CRB1	NM_201253.3(CRB1):c.805C>T (p.Gln269Ter)	SNV	Pathogenic	973924	rs753224594	GRCh37: 1:197313563-197313563 GRCh38: 1:197344433-197344433
24	CRB1	NM_201253.3(CRB1):c.2479G>T (p.Gly827Ter)	SNV	Pathogenic	99880	rs62636269	GRCh37: 1:197396934-197396934 GRCh38: 1:197427804-197427804
25	CRB1	NM_201253.3(CRB1):c.3668_3669delinsA (p.Gln1222_Cys1223insTer)	INDEL	Pathogenic	973920	rs1665112963	GRCh37: 1:197404661-197404662 GRCh38: 1:197435531-197435532
26	CRB1	NM_201253.3(CRB1):c.4214del (p.Leu1405fs)	DEL	Pathogenic	973926	rs1667270187	GRCh37: 1:197447002-197447002 GRCh38: 1:197477872-197477872
27	CRB1	NM_201253.3(CRB1):c.3153G>A (p.Trp1051Ter)	SNV	Pathogenic	973932	rs1249210332	GRCh37: 1:197404146-197404146 GRCh38: 1:197435016-197435016
28	CRB1	NM_201253.3(CRB1):c.3408del (p.Cys1137fs)	DEL	Pathogenic	973933	rs1665093194	GRCh37: 1:197404401-197404401 GRCh38: 1:197435271-197435271
29	CRB1	NM_201253.3(CRB1):c.1041del (p.Cys348fs)	DEL	Pathogenic	973934	rs1660507732	GRCh37: 1:197326010-197326010 GRCh38: 1:197356880-197356880
30	CRB1	NM_201253.3(CRB1):c.2466G>A (p.Trp822Ter)	SNV	Pathogenic	973935	rs1664669402	GRCh37: 1:197396921-197396921 GRCh38: 1:197427791-197427791
31	CRB1	NM_201253.3(CRB1):c.2234C>A (p.Thr745Lys)	SNV	Pathogenic Pathogenic	973930	rs28939720	GRCh37: 1:197396689-197396689 GRCh38: 1:197427559-197427559
32	CRB1	NM_201253.3(CRB1):c.3347del (p.Phe1116fs)	DEL	Pathogenic	99900	rs62636278	GRCh37: 1:197404338-197404338 GRCh38: 1:197435208-197435208
33	CRB1	NM_201253.3(CRB1):c.3507G>A (p.Trp1169Ter)	SNV	Pathogenic	973938	rs1665100553	GRCh37: 1:197404500-197404500 GRCh38: 1:197435370-197435370
34	CRB1	NM_201253.3(CRB1):c.1818T>A (p.Cys606Ter)	SNV	Pathogenic	973939	rs371114178	GRCh37: 1:197390776-197390776 GRCh38: 1:197421646-197421646
35	CRB1	NM_201253.3(CRB1):c.624T>A (p.Tyr208Ter)	SNV	Pathogenic	973940	rs1658697788	GRCh37: 1:197298105-197298105 GRCh38: 1:197328975-197328975
36	CRB1	NM_201253.3(CRB1):c.2024G>A (p.Trp675Ter)	SNV	Pathogenic	978992	rs1664348016	GRCh37: 1:197390982-197390982 GRCh38: 1:197421852-197421852
37	overlap with 7 genes	NC_000001.10:g.(?_196918585)_(197742062_?)del	DEL	Pathogenic	1076360		GRCh37: 1:196918585-197742062 GRCh38:
38	CRB1	NC_000001.10:g.(?_197407677)_(197411422_?)del	DEL	Pathogenic	1076361		GRCh37: 1:197407677-197411422 GRCh38:
39	CRB1	NC_000001.10:g.(?_197404386)_197410804del	DEL	Pathogenic	1076363		GRCh37: GRCh38:
40	CRB1	NM_201253.3(CRB1):c.2630_2631dup (p.Leu878fs)	DUP	Pathogenic	1172709		GRCh37: 1:197397084-197397085 GRCh38: 1:197427954-197427955
41	CRB1	NM_201253.3(CRB1):c.653-1G>T	SNV	Pathogenic	866627	rs760287363	GRCh37: 1:197313410-197313410 GRCh38: 1:197344280-197344280
42	CRB1	NM_201253.3(CRB1):c.3451G>T (p.Gly1151Ter)	SNV	Pathogenic	866662	rs1558138741	GRCh37: 1:197404444-197404444 GRCh38: 1:197435314-197435314
43	CRB1	NM_201253.3(CRB1):c.71del (p.Asn24fs)	DEL	Pathogenic	866715	rs1654722914	GRCh37: 1:197237608-197237608 GRCh38: 1:197268478-197268478
44	CRB1	NM_201253.3(CRB1):c.2501G>A (p.Gly834Asp)	SNV	Pathogenic	427127	rs1085307972	GRCh37: 1:197396956-197396956 GRCh38: 1:197427826-197427826
45	CRB1	NM_201253.3(CRB1):c.1913C>T (p.Ser638Leu)	SNV	Pathogenic	73455	rs267598278	GRCh37: 1:197390871-197390871 GRCh38: 1:197421741-197421741
46	CRB1	NM_201253.3(CRB1):c.2869C>T (p.Gln957Ter)	SNV	Pathogenic	236479	rs878853371	GRCh37: 1:197403862-197403862 GRCh38: 1:197434732-197434732
47	CRB1	NM_201253.3(CRB1):c.984G>A (p.Trp328Ter)	SNV	Pathogenic	801594	rs1571878277	GRCh37: 1:197316605-197316605 GRCh38: 1:197347475-197347475
48	CRB1	NM_201253.3(CRB1):c.3878G>A (p.Trp1293Ter)	SNV	Pathogenic	931560	rs1665282478	GRCh37: 1:197407805-197407805 GRCh38: 1:197438675-197438675
49	CRB1	NM_201253.3(CRB1):c.2230C>T (p.Arg744Ter)	SNV	Pathogenic Pathogenic/Likely Pathogenic	635155	rs150412614	GRCh37: 1:197396685-197396685 GRCh38: 1:197427555-197427555
50	CRB1	NM_201253.3(CRB1):c.3121A>G (p.Met1041Val)	SNV	Pathogenic	636016	rs781705903	GRCh37: 1:197404114-197404114 GRCh38: 1:197434984-197434984

UniProtKB/Swiss-Prot genetic disease variations for Leber Congenital Amaurosis 8:

⁷³ (show all 36)

#	Symbol	AA change	Variation ID	SNP ID
1	CRB1	p.Thr745Met	VAR_011643	rs28939720
2	CRB1	p.Arg764Cys	VAR_011644	rs62635654
3	CRB1	p.Cys948Tyr	VAR_011645	rs62645748
4	CRB1	p.Ile1100Arg	VAR_011648	rs62635659
5	CRB1	p.Phe144Val	VAR_022941	rs62636262
6	CRB1	p.Cys383Tyr	VAR_022946	rs62645754
7	CRB1	p.Cys480Gly	VAR_022948
8	CRB1	p.Cys480Arg	VAR_022949	rs62636264
9	CRB1	p.Asp584Tyr	VAR_022951
10	CRB1	p.Cys681Tyr	VAR_022954	rs62636266
11	CRB1	p.Glu710Gln	VAR_022955	rs62645755
12	CRB1	p.Met741Thr	VAR_022956	rs62636267
13	CRB1	p.Gly850Ser	VAR_022963	rs776591659
14	CRB1	p.Ile852Thr	VAR_022964	rs62636271
15	CRB1	p.Ile989Thr	VAR_022971
16	CRB1	p.Ser1025Ile	VAR_022972	rs62636274
17	CRB1	p.Gly1103Arg	VAR_022974	rs62636275
18	CRB1	p.Leu1107Pro	VAR_022975	rs62636276
19	CRB1	p.Leu1107Arg	VAR_022976	rs62636276
20	CRB1	p.Gly1205Arg	VAR_022977	rs574742644
21	CRB1	p.Cys1218Phe	VAR_022978
22	CRB1	p.Asn1317His	VAR_022979	rs62636281
23	CRB1	p.Cys1321Ser	VAR_022980	rs62635649
24	CRB1	p.Gly333Asp	VAR_067131	rs587783015
25	CRB1	p.Cys438Tyr	VAR_067132	rs1571522690
26	CRB1	p.Gly454Arg	VAR_067133	rs954595597
27	CRB1	p.Leu535Pro	VAR_067136	rs113082791
28	CRB1	p.Asp564Tyr	VAR_067137
29	CRB1	p.Leu753Pro	VAR_067142	rs896160584
30	CRB1	p.Cys939Tyr	VAR_067147	rs1411345985
31	CRB1	p.Ile1003Thr	VAR_067148	rs1409740542
32	CRB1	p.Tyr1161Cys	VAR_067152	rs1414707912
33	CRB1	p.Cys1174Gly	VAR_067153	rs917768074
34	CRB1	p.Cys1332Phe	VAR_067157	rs377543137
35	CRB1	p.Pro1381Leu	VAR_067159
36	CRB1	p.Cys948Arg	VAR_079626	rs62645747

Sources

Expression for Leber Congenital Amaurosis 8

Search GEO for disease gene expression data for Leber Congenital Amaurosis 8.

Sources

Pathways for Leber Congenital Amaurosis 8

Pathways related to Leber Congenital Amaurosis 8 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Visual phototransduction ⁶⁶ Show member pathways Activation of the phototransduction cascade ⁶⁶ Defective SLC24A1 causes congenital stationary night blindness 1D (CSNB1D) ⁶⁶ Inactivation, recovery and regulation of the phototransduction cascade ⁶⁶ menaquinol-4 biosynthesis II ⁶¹ Metabolism of fat-soluble vitamins ⁶⁶ Metabolism of vitamin K ⁶⁶ Retinoid metabolism and transport ⁶⁶ retinol biosynthesis ⁶¹ The phototransduction cascade ⁶⁶ The retinoid cycle in cones (daylight vision) ⁶⁶ the visual cycle I (vertebrates) ⁶¹ Visual signal transduction: Rods ⁶¹ Vitamin E ⁶⁶	12.27	RPE65 RDH12 LRAT GUCY2D
2	Ciliary landscape ⁷⁴	11.98	SPATA7 LCA5 CEP290
3	Bardet-Biedl syndrome ⁷⁴ Show member pathways Genes related to primary cilium development (based on CRISPR) ⁷⁴	11.77	LCA5 CRX CEP290
4	Visual Cycle in Retinal Rods ⁶⁴	11.53	RPE65 RDH12 LRAT GUCY2D
5	Diseases of the neuronal system ⁶⁶ Show member pathways Biosynthesis of A2E, implicated in retinal degradation ⁶⁶ Diseases associated with visual transduction ⁶⁶ Retinoid cycle disease events ⁶⁶ The canonical retinoid cycle in rods (twilight vision) ⁶⁶	11.42	RPE65 RDH12 LRAT
6	Ciliopathies ⁷⁴	11.4	TULP1 SPATA7 LCA5 CRX CEP290
7	Retinol metabolism (TR) ²² Show member pathways Ifosfamide Pathway, Pharmacokinetics ⁶⁰	11.2	RPE65 RDH12 LRAT
8	Vitamin A and carotenoid metabolism ⁷⁴	11.12	RPE65 RDH12 LRAT
9	Retinol metabolism (WikiPathways) ⁷⁴	10.59	RPE65 RDH12 LRAT
10	Visual signal transduction: Cones ⁶¹	10.29	RPE65 RDH12 LRAT GUCY2D

Sources

GO Terms for Leber Congenital Amaurosis 8

Cellular components related to Leber Congenital Amaurosis 8 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	photoreceptor connecting cilium	GO:0032391	9.85	SPATA7 LCA5 CEP290
2	cell projection	GO:0042995	9.76	CEP290 CRB1 GUCY2D LCA5 PALS1 SPATA7
3	apical junction complex	GO:0043296	9.73	PALS1 CRB2 CRB1
4	subapical complex	GO:0035003	9.62	CRB2 CRB1
5	apical part of cell	GO:0045177	9.58	PALS1 CRB2 CRB1
6	photoreceptor outer segment	GO:0001750	9.5	TULP1 SPATA7 GUCY2D CRB1
7	photoreceptor inner segment	GO:0001917	9.23	TULP1 RDH12 CRB1 AIPL1

Biological processes related to Leber Congenital Amaurosis 8 according to GeneCards Suite gene sharing:

(show all 15)

#	Name	GO ID	Score	Top Affiliating Genes
1	retinol metabolic process	GO:0042572	9.93	LRAT RDH12 RPE65
2	response to stimulus	GO:0050896	9.93	TULP1 SPATA7 RPE65 RDH12 LRAT GUCY2D
3	retinoid metabolic process	GO:0001523	9.91	RPE65 RDH12 LRAT
4	establishment or maintenance of epithelial cell apical/basal polarity	GO:0045197	9.88	PALS1 CRB2 CRB1
5	retina homeostasis	GO:0001895	9.86	TULP1 RPE65 CRB2 AIPL1
6	detection of light stimulus involved in visual perception	GO:0050908	9.85	TULP1 RPE65 CRB1
7	regulation of rhodopsin mediated signaling pathway	GO:0022400	9.83	GUCY2D AIPL1
8	retina development in camera-type eye	GO:0060041	9.81	TULP1 RPE65 CRB1
9	protein localization to photoreceptor outer segment	GO:1903546	9.8	TULP1 SPATA7
10	eye photoreceptor cell development	GO:0042462	9.8	CEP290 CRB1 TULP1
11	vitamin A metabolic process	GO:0006776	9.78	RPE65 LRAT
12	photoreceptor cell maintenance	GO:0045494	9.73	CRB1 CRB2 LCA5 RDH12 SPATA7 TULP1
13	plasma membrane organization	GO:0007009	9.72	PALS1 CRB1
14	retina morphogenesis in camera-type eye	GO:0060042	9.71	RPE65 CRB1
15	visual perception	GO:0007601	9.6	TULP1 SPATA7 RPE65 RDH12 LRAT GUCY2D

Sources

Sources for Leber Congenital Amaurosis 8

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

LCA8 MCID: LBR018 MIFTS: 49	Leber Congenital Amaurosis 8 (LCA8) Categories: Eye diseases, Genetic diseases, Neuronal diseases	Data Licensing For inquiries, contact: [email protected]
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Leber Congenital Amaurosis 8 (LCA8)

Aliases & Classifications for Leber Congenital Amaurosis 8

MalaCards integrated aliases for Leber Congenital Amaurosis 8:

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Diseases in the Leber Congenital Amaurosis 4 family:

Diseases related to Leber Congenital Amaurosis 8 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Leber Congenital Amaurosis 8:

Symptoms & Phenotypes for Leber Congenital Amaurosis 8

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UniProtKB/Swiss-Prot genetic disease variations for Leber Congenital Amaurosis 8:

Expression for Leber Congenital Amaurosis 8

Pathways for Leber Congenital Amaurosis 8

Pathways related to Leber Congenital Amaurosis 8 according to GeneCards Suite gene sharing:

GO Terms for Leber Congenital Amaurosis 8

Cellular components related to Leber Congenital Amaurosis 8 according to GeneCards Suite gene sharing:

Biological processes related to Leber Congenital Amaurosis 8 according to GeneCards Suite gene sharing:

Sources for Leber Congenital Amaurosis 8