LCA8
MCID: LBR018
MIFTS: 49

Leber Congenital Amaurosis 8 (LCA8)

Categories: Eye diseases, Genetic diseases, Neuronal diseases
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Aliases & Classifications for Leber Congenital Amaurosis 8

MalaCards integrated aliases for Leber Congenital Amaurosis 8:

Name: Leber Congenital Amaurosis 8 57 11 73 28 5 14 71
Lca8 57 11 73
Leber Congenital Amaurosis, Type 8 38

Characteristics:


Inheritance:

Autosomal recessive 57

Classifications:



External Ids:

Disease Ontology 11 DOID:0110079
OMIM® 57 613835
OMIM Phenotypic Series 57 PS204000
MeSH 43 D057130
ICD10 31 H35.5
MedGen 40 C3151202
UMLS 71 C3151202

Summaries for Leber Congenital Amaurosis 8

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.

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:



Diseases related to Leber Congenital Amaurosis 8

Symptoms & Phenotypes for Leber Congenital Amaurosis 8

Human phenotypes related to Leber Congenital Amaurosis 8:

30 (show all 11)
# Description HPO Frequency Orphanet 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

Drugs & Therapeutics for Leber Congenital Amaurosis 8

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

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

Anatomical Context for Leber Congenital Amaurosis 8

Organs/tissues related to Leber Congenital Amaurosis 8:

MalaCards : Retina, Eye, Bone

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
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
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
11389483 2001
4
Mutations in the CRB1 gene cause Leber congenital amaurosis. 57 5
11231775 2001
5
Novel nonsense and splice site mutations in CRB1 gene in two Japanese patients with early-onset retinal dystrophy. 62 5
25323024 2015
6
Clinical and Genetic Analysis of 63 Families Demonstrating Early and Advanced Characteristic Fundus as the Signature of CRB1 Mutations. 5
33342761 2021
7
Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome. 5
33576794 2021
8
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases. 5
33546218 2021
9
Clinical and genetic investigations of three Moroccan families with retinitis pigmentosa phenotypes. 5
33633436 2021
10
Identifying haplotypes in recessive inherited retinal dystrophies using whole-genome linked-read sequencing. 5
32901921 2021
11
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy. 5
31630094 2020
12
Unraveling the genetic cause of hereditary ophthalmic disorders in Arab societies from Israel and the Palestinian Authority. 5
31896775 2020
13
Genetic testing for inherited ocular conditions in a developing country. 5
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
29200130 2020
15
A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC). 5
31456290 2020
16
Identification of CRB1 mutations in two Chinese consanguineous families exhibiting autosomal recessive retinitis pigmentosa. 5
31322236 2019
17
Genomic Landscape of Sporadic Retinitis Pigmentosa: Findings from 877 Spanish Cases. 5
30902645 2019
18
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 5
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
30029497 2018
20
A clinical and molecular characterisation of CRB1-associated maculopathy. 5
29391521 2018
21
Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing. 5
29844330 2018
22
Genetic profile and mutation spectrum of Leber congenital amaurosis in a larger Indian cohort using high throughput targeted re-sequencing. 5
29068479 2018
23
Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis. 5
30576320 2018
24
Retinal capillaritis in a CRB1-associated retinal dystrophy. 5
28129017 2017
25
The genetic profile of Leber congenital amaurosis in an Australian cohort. 5
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
28714225 2017
27
Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease. 5
28559085 2017
28
The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes. 5
28819299 2017
29
Genotypic and Phenotypic Characteristics of CRB1-Associated Retinal Dystrophies: A Long-Term Follow-up Study. 5
28341475 2017
30
Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families. 5
28512305 2017
31
Isolated maculopathy associated with biallelic CRB1 mutations. 5
27096895 2017
32
Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies. 5
28181551 2017
33
Unravelling the genetic basis of simplex Retinitis Pigmentosa cases. 5
28157192 2017
34
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. 5
28041643 2017
35
Molecular findings from 537 individuals with inherited retinal disease. 5
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
27113771 2016
37
Retinal Dystrophy in 6 Young Patients Who Presented with Intermediate Uveitis. 5
27157150 2016
38
Atypical presentation of CRB1 retinopathy. 5
26914788 2016
39
Molecular genetics of Leber congenital amaurosis in Chinese: New data from 66 probands and mutation overview of 159 probands. 5
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
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
28005958 2016
42
Next-generation sequencing-based comprehensive molecular analysis of 43 Japanese patients with cone and cone-rod dystrophies. 5
26957898 2016
43
NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa. 5
26667666 2015
44
Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort. 5
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
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
25412400 2015
47
Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype-phenotype correlations and unexpected diagnostic revisions. 5
25474345 2015
48
Mutation analysis of Leber congenital amaurosis‑associated genes in patients with retinitis pigmentosa. 5
25377065 2015
49
Retinal Dystrophy with Intraretinal Cystoid Spaces Associated with Mutations in the Crumbs Homologue (CRB1) Gene. 5
24512366 2015
50
Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing. 5
24938718 2014

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

Expression for Leber Congenital Amaurosis 8

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

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
Show member pathways
12.27 RPE65 RDH12 LRAT GUCY2D
2 11.98 SPATA7 LCA5 CEP290
3
Show member pathways
11.77 LCA5 CRX CEP290
4 11.53 RPE65 RDH12 LRAT GUCY2D
5
Show member pathways
11.42 RPE65 RDH12 LRAT
6 11.4 TULP1 SPATA7 LCA5 CRX CEP290
7
Show member pathways
11.2 RPE65 RDH12 LRAT
8 11.12 RPE65 RDH12 LRAT
9 10.59 RPE65 RDH12 LRAT
10 10.29 RPE65 RDH12 LRAT GUCY2D

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 for Leber Congenital Amaurosis 8

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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