LCA7
MCID: LBR017
MIFTS: 41

Leber Congenital Amaurosis 7 (LCA7)

Categories: Eye diseases, Genetic diseases, Neuronal diseases
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Aliases & Classifications for Leber Congenital Amaurosis 7

MalaCards integrated aliases for Leber Congenital Amaurosis 7:

Name: Leber Congenital Amaurosis 7 57 11 73 28 5 14 71
Lca7 57 11 73
Leber Congenital Amaurosis, Type 7 38

Classifications:



External Ids:

Disease Ontology 11 DOID:0110333
OMIM® 57 613829
OMIM Phenotypic Series 57 PS204000
MeSH 43 D057130
ICD10 31 H35.5
MedGen 40 C3151192
UMLS 71 C3151192

Summaries for Leber Congenital Amaurosis 7

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. (613829) (Updated 08-Dec-2022)

MalaCards based summary: Leber Congenital Amaurosis 7, also known as lca7, is related to leber plus disease and severe early-childhood-onset retinal dystrophy. An important gene associated with Leber Congenital Amaurosis 7 is CRX (Cone-Rod Homeobox), and among its related pathways/superpathways are Visual Cycle in Retinal Rods and Ciliopathies. Affiliated tissues include retina and eye, and related phenotypes are nystagmus and visual impairment

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 has material basis in mutation in the CRX gene on chromosome 19q13.

Related Diseases for Leber Congenital Amaurosis 7

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

(show top 50) (show all 64)
# Related Disease Score Top Affiliating Genes
1 leber plus disease 27.9 SPATA7 RDH12 LCA5 GUCY2D CRX CRB1
2 severe early-childhood-onset retinal dystrophy 10.0 SPATA7 LCA5
3 gapo syndrome 9.9 CRB1 AIPL1
4 retinitis pigmentosa 12 9.9 CRB1 AIPL1
5 retinal cone dystrophy 1 9.9 GUCY2D CRX
6 chorioretinal scar 9.9 RDH12 CRB1
7 partial central choroid dystrophy 9.9 GUCY2D CRX
8 degeneration of macula and posterior pole 9.9 CRX CRB1
9 hereditary choroidal atrophy 9.9 GUCY2D CRX
10 usher syndrome, type iia 9.9 CRB1 AIPL1
11 cone-rod dystrophy 17 9.8 GUCY2D AIPL1
12 cone-rod dystrophy 3 9.8 GUCY2D CRX
13 occult macular dystrophy 9.8 GUCY2D CRX
14 retinitis pigmentosa 38 9.8 GUCY2D AIPL1
15 stargardt disease 1 9.7 RDH12 CRX CRB1
16 enophthalmos 9.7 GUCY2D CRB1
17 choroid disease 9.7 GUCY2D CRB1
18 blood group, globoside system 9.7 RDH12 CRB1 AIPL1
19 vitelliform macular dystrophy 9.6 GUCY2D CRX CRB1
20 pigmented paravenous chorioretinal atrophy 9.6 GUCY2D CRB1 AIPL1
21 refractive error 9.6 GUCY2D CRB1
22 retinal disease 9.6 GUCY2D CRX CRB1
23 physical disorder 9.6 GUCY2D CRB1 AIPL1
24 hereditary retinal dystrophy 9.6 SPATA7 GUCY2D CRB1
25 leber congenital amaurosis 14 9.5 SPATA7 RDH12 LCA5 AIPL1
26 leber congenital amaurosis 13 9.5 SPATA7 RDH12 LCA5 AIPL1
27 usher syndrome type 2 9.5 GUCY2D CRB1
28 leber congenital amaurosis 1 9.5 LCA5 GUCY2D CRX CRB1
29 enhanced s-cone syndrome 9.4 GUCY2D CRX CRB1 AIPL1
30 choroidal dystrophy, central areolar, 1 9.4 GUCY2D CRX CRB1 AIPL1
31 color blindness 9.4 GUCY2D CRX CRB1 AIPL1
32 late-onset retinal degeneration 9.4 GUCY2D CRX CRB1 AIPL1
33 leber congenital amaurosis 12 9.4 SPATA7 LCA5 GUCY2D AIPL1
34 retinoschisis 1, x-linked, juvenile 9.4 GUCY2D CRX CRB1 AIPL1
35 night blindness 9.3 RDH12 GUCY2D CRX CRB1
36 fundus albipunctatus 9.3 RDH12 GUCY2D CRX CRB1
37 macular degeneration, age-related, 1 9.3 RDH12 GUCY2D CRX CRB1
38 pseudopapilledema 9.1 RDH12 GUCY2D CRX CRB1 AIPL1
39 leber congenital amaurosis 15 9.1 SPATA7 RDH12 LCA5 GUCY2D AIPL1
40 eye degenerative disease 9.1 RDH12 GUCY2D CRX CRB1 AIPL1
41 eye disease 9.1 RDH12 GUCY2D CRX CRB1 AIPL1
42 coloboma of macula 8.9 RDH12 LCA5 GUCY2D CRX CRB1 AIPL1
43 congenital stationary night blindness 8.9 RDH12 LCA5 GUCY2D CRX CRB1 AIPL1
44 stargardt disease 8.9 SPATA7 RDH12 GUCY2D CRX CRB1 AIPL1
45 leber congenital amaurosis 16 8.9 SPATA7 RDH12 LCA5 GUCY2D CRB1 AIPL1
46 leber congenital amaurosis 11 8.9 SPATA7 RDH12 LCA5 GUCY2D CRB1 AIPL1
47 retinal degeneration 8.8 SPATA7 RDH12 GUCY2D CRX CRB1 AIPL1
48 achromatopsia 8.7 SPATA7 RDH12 LCA5 GUCY2D CRX CRB1
49 leber congenital amaurosis 8 8.7 SPATA7 RDH12 LCA5 GUCY2D CRX CRB1
50 leber congenital amaurosis 6 8.7 SPATA7 RDH12 LCA5 GUCY2D CRX CRB1

Graphical network of the top 20 diseases related to Leber Congenital Amaurosis 7:



Diseases related to Leber Congenital Amaurosis 7

Symptoms & Phenotypes for Leber Congenital Amaurosis 7

Human phenotypes related to Leber Congenital Amaurosis 7:

30 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 30 Very rare (1%) HP:0000639
2 visual impairment 30 Very rare (1%) HP:0000505
3 undetectable electroretinogram 30 Very rare (1%) HP:0000550
4 cataract 30 HP:0000518
5 photophobia 30 HP:0000613
6 keratoconus 30 HP:0000563
7 pendular nystagmus 30 HP:0012043

Clinical features from OMIM®:

613829 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Leber Congenital Amaurosis 7:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.5 AIPL1 CRB1 CRX GUCY2D LCA5 RDH12
2 pigmentation MP:0001186 9.33 CRB1 CRX LCA5
3 vision/eye MP:0005391 9.17 AIPL1 CRB1 CRX GUCY2D LCA5 RDH12

Drugs & Therapeutics for Leber Congenital Amaurosis 7

Search Clinical Trials, NIH Clinical Center for Leber Congenital Amaurosis 7

Genetic Tests for Leber Congenital Amaurosis 7

Genetic tests related to Leber Congenital Amaurosis 7:

# Genetic test Affiliating Genes
1 Leber Congenital Amaurosis 7 28 CRX

Anatomical Context for Leber Congenital Amaurosis 7

Organs/tissues related to Leber Congenital Amaurosis 7:

MalaCards : Retina, Eye

Publications for Leber Congenital Amaurosis 7

Articles related to Leber Congenital Amaurosis 7:

(show all 41)
# Title Authors PMID Year
1
Novel de novo mutation in CRX gene in a Japanese patient with leber congenital amaurosis. 57 5
12208271 2002
2
Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function. 57 5
9931337 1999
3
De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis. 57 5
9537410 1998
4
A mutation in CRX causing pigmented paravenous retinochoroidal atrophy. 5
32927963 2022
5
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. 5
32576985 2020
6
Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients. 5
32865313 2020
7
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy. 5
31630094 2020
8
Whole-genome sequencing of patients with rare diseases in a national health system. 5
32581362 2020
9
Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association. 5
32533067 2020
10
Pathogenicity discrimination and genetic test reference for CRX variants based on genotype-phenotype analysis. 5
31626798 2019
11
Incomplete penetrance of CRX gene for autosomal dominant form of cone-rod dystrophy. 5
31215831 2019
12
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 5
30718709 2019
13
Development of a molecular diagnostic test for Retinitis Pigmentosa in the Japanese population. 5
29785639 2018
14
Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families. 5
29847639 2018
15
Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy. 5
29555955 2018
16
Genetic profile and mutation spectrum of Leber congenital amaurosis in a larger Indian cohort using high throughput targeted re-sequencing. 5
29068479 2018
17
Systematic evaluation of a targeted gene capture sequencing panel for molecular diagnosis of retinitis pigmentosa. 5
29641573 2018
18
Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa. 5
30543658 2018
19
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. 5
28041643 2017
20
Molecular genetics of cone-rod dystrophy in Chinese patients: New data from 61 probands and mutation overview of 163 probands. 5
26992781 2016
21
Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel. 5
27032803 2016
22
Retinitis Pigmentosa with EYS Mutations Is the Most Prevalent Inherited Retinal Dystrophy in Japanese Populations. 5
26161267 2015
23
A novel CRX mutation by whole-exome sequencing in an autosomal dominant cone-rod dystrophy pedigree. 5
26682157 2015
24
The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype. 5
25270190 2014
25
A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. 5
25259927 2014
26
Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease. 5
22968130 2013
27
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies. 5
24265693 2013
28
Mutation discovered in a feline model of human congenital retinal blinding disease. 57
20053974 2010
29
Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions. 57
20006823 2009
30
Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture. 5
17964524 2007
31
Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families. 5
15994872 2005
32
Evidence of autosomal dominant Leber congenital amaurosis (LCA) underlain by a CRX heterozygous null allele. 5
12843339 2003
33
Functional analysis of cone-rod homeobox (CRX) mutations associated with retinal dystrophy. 5
11971869 2002
34
Novel frameshift mutations in CRX associated with Leber congenital amaurosis. 5
11748859 2001
35
Visual phenotype in patients with Arg41Gln and ala196+1bp mutations in the CRX gene. 5
10916183 2000
36
Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration. 5
9427255 1997
37
Crx, a novel otx-like homeobox gene, shows photoreceptor-specific expression and regulates photoreceptor differentiation. 57
9390562 1997
38
Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals. 62
35836572 2022
39
Allele-specific gene editing to rescue dominant CRX-associated LCA7 phenotypes in a retinal organoid model. 62
34653402 2021
40
PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY. 62
30134391 2019
41
Leber Congenital Amaurosis – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY 62
20301475 2004

Variations for Leber Congenital Amaurosis 7

ClinVar genetic disease variations for Leber Congenital Amaurosis 7:

5 (show top 50) (show all 344)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CRX NM_000554.6(CRX):c.520del (p.Ala174fs) DEL Pathogenic
99611 rs281865515 GRCh37: 19:48342843-48342843
GRCh38: 19:47839586-47839586
2 CRX GRCh37/hg19 19q13.33(chr19:48328087-48339179) CN LOSS Pathogenic
915983 GRCh37: 19:48328087-48339179
GRCh38:
3 CRX NM_000554.6(CRX):c.661_*3038del (p.Tyr221fs) DEL Pathogenic
939164 GRCh37: 19:48342985-48346262
GRCh38: 19:47839728-47843005
4 CRX NM_000554.6(CRX):c.489G>A (p.Trp163Ter) SNV Pathogenic
973898 rs1968166379 GRCh37: 19:48342813-48342813
GRCh38: 19:47839556-47839556
5 CRX NM_000554.6(CRX):c.549del (p.Pro184fs) DEL Pathogenic
973901 rs1968167603 GRCh37: 19:48342871-48342871
GRCh38: 19:47839614-47839614
6 CRX NM_000554.6(CRX):c.570del (p.Tyr191fs) DEL Pathogenic
973902 rs1968168564 GRCh37: 19:48342890-48342890
GRCh38: 19:47839633-47839633
7 CRX NM_000554.6(CRX):c.585C>A (p.Tyr195Ter) SNV Pathogenic
973903 rs373497612 GRCh37: 19:48342909-48342909
GRCh38: 19:47839652-47839652
8 CRX NM_000554.6(CRX):c.695del (p.Pro232fs) DEL Pathogenic
191298 rs786205630 GRCh37: 19:48343017-48343017
GRCh38: 19:47839760-47839760
9 CRX NM_000554.6(CRX):c.816del (p.Thr273fs) DEL Pathogenic
973904 rs1968173864 GRCh37: 19:48343137-48343137
GRCh38: 19:47839880-47839880
10 CRX NM_000554.6(CRX):c.191del (p.Pro64fs) DEL Pathogenic
973905 rs1968117526 GRCh37: 19:48339588-48339588
GRCh38: 19:47836331-47836331
11 CRX NM_000554.6(CRX):c.450del (p.Gly151fs) DEL Pathogenic
973941 rs1968165665 GRCh37: 19:48342774-48342774
GRCh38: 19:47839517-47839517
12 CRX NM_000554.6(CRX):c.458del (p.Pro153fs) DEL Pathogenic
973942 rs1968165787 GRCh37: 19:48342779-48342779
GRCh38: 19:47839522-47839522
13 CRX NC_000019.9:g.(?_48339500)_(48343224_?)del DEL Pathogenic
1071706 GRCh37: 19:48339500-48343224
GRCh38:
14 CRX NC_000019.9:g.(?_48342985)_48346262del DEL Pathogenic
1071707 GRCh37:
GRCh38:
15 CRX NM_000554.6(CRX):c.564del (p.Ala189fs) DEL Pathogenic
1172711 GRCh37: 19:48342887-48342887
GRCh38: 19:47839630-47839630
16 CRX NM_000554.6(CRX):c.119G>A (p.Arg40Gln) SNV Pathogenic
437959 rs771450991 GRCh37: 19:48339518-48339518
GRCh38: 19:47836261-47836261
17 CRX NM_000554.6(CRX):c.500_501del (p.Ala166_Ser167insTer) DEL Pathogenic
803571 rs1599991611 GRCh37: 19:48342824-48342825
GRCh38: 19:47839567-47839568
18 CRX NM_000554.6(CRX):c.118C>T (p.Arg40Trp) SNV Pathogenic
864383 rs749738655 GRCh37: 19:48339517-48339517
GRCh38: 19:47836260-47836260
19 CRX NM_000554.6(CRX):c.262_275del (p.Phe87_Lys88insTer) DEL Pathogenic
938600 rs1968160841 GRCh37: 19:48342585-48342598
GRCh38: 19:47839328-47839341
20 CRX NM_000554.6(CRX):c.449C>G (p.Ser150Ter) SNV Pathogenic
218921 rs864309706 GRCh37: 19:48342773-48342773
GRCh38: 19:47839516-47839516
21 CRX NM_000554.6(CRX):c.127C>T (p.Arg43Cys) SNV Pathogenic
636019 rs1437021651 GRCh37: 19:48339526-48339526
GRCh38: 19:47836269-47836269
22 CRX NM_000554.6(CRX):c.447dup (p.Ser150fs) DUP Pathogenic
99607 rs61748444 GRCh37: 19:48342767-48342768
GRCh38: 19:47839510-47839511
23 CRX NM_000554.6(CRX):c.512del (p.Leu171fs) DEL Pathogenic
Pathogenic
973899 rs1968166909 GRCh37: 19:48342834-48342834
GRCh38: 19:47839577-47839577
24 CRX NM_000554.6(CRX):c.239A>C (p.Glu80Ala) SNV Pathogenic
7416 rs104894671 GRCh37: 19:48339638-48339638
GRCh38: 19:47836381-47836381
25 CRX NM_000554.6(CRX):c.152_153del (p.Leu51fs) DEL Pathogenic
944597 rs1968116898 GRCh37: 19:48339551-48339552
GRCh38: 19:47836294-47836295
26 CRX NM_000554.6(CRX):c.128G>A (p.Arg43His) SNV Pathogenic
956064 rs771736389 GRCh37: 19:48339527-48339527
GRCh38: 19:47836270-47836270
27 CRX NM_000554.6(CRX):c.571del (p.Tyr191fs) DEL Pathogenic
99614 rs61748452 GRCh37: 19:48342895-48342895
GRCh38: 19:47839638-47839638
28 CRX NM_000554.6(CRX):c.503_504del (p.Glu168fs) MICROSAT Pathogenic
99609 rs61748446 GRCh37: 19:48342825-48342826
GRCh38: 19:47839568-47839569
29 CRX NM_000554.6(CRX):c.650del (p.Gly217fs) DEL Pathogenic
99619 rs281865517 GRCh37: 19:48342973-48342973
GRCh38: 19:47839716-47839716
30 CRX NM_000554.6(CRX):c.122G>A (p.Arg41Gln) SNV Pathogenic
7421 rs61748436 GRCh37: 19:48339521-48339521
GRCh38: 19:47836264-47836264
31 CRX NM_000554.6(CRX):c.404del (p.Pro135fs) DEL Pathogenic
425192 rs1064797246 GRCh37: 19:48342726-48342726
GRCh38: 19:47839469-47839469
32 CRX NM_000554.6(CRX):c.121C>T (p.Arg41Trp) SNV Pathogenic
7418 rs104894672 GRCh37: 19:48339520-48339520
GRCh38: 19:47836263-47836263
33 CRX NM_000554.6(CRX):c.522_523dup (p.Gln175fs) MICROSAT Pathogenic
1184468 GRCh37: 19:48342843-48342844
GRCh38: 19:47839586-47839587
34 CRX NM_000554.6(CRX):c.268C>T (p.Arg90Trp) SNV Pathogenic
Uncertain Significance
7422 rs104894673 GRCh37: 19:48342592-48342592
GRCh38: 19:47839335-47839335
35 CRX NM_000554.6(CRX):c.523C>T (p.Gln175Ter) SNV Pathogenic
973900 rs1968167093 GRCh37: 19:48342847-48342847
GRCh38: 19:47839590-47839590
36 CRX NM_000554.6(CRX):c.663C>A (p.Tyr221Ter) SNV Likely Pathogenic
425193 rs1064797247 GRCh37: 19:48342987-48342987
GRCh38: 19:47839730-47839730
37 CRX NM_000554.6(CRX):c.437_449del (p.Leu146fs) DEL Likely Pathogenic
866158 rs1968165080 GRCh37: 19:48342755-48342767
GRCh38: 19:47839498-47839510
38 CRX NM_000554.6(CRX):c.766C>T (p.Gln256Ter) SNV Likely Pathogenic
861103 rs1968173024 GRCh37: 19:48343090-48343090
GRCh38: 19:47839833-47839833
39 CRX NM_000554.6(CRX):c.101-1G>T SNV Likely Pathogenic
858053 rs1968115710 GRCh37: 19:48339499-48339499
GRCh38: 19:47836242-47836242
40 CRX NM_000554.6(CRX):c.774T>A (p.Tyr258Ter) SNV Likely Pathogenic
1479901 GRCh37: 19:48343098-48343098
GRCh38: 19:47839841-47839841
41 CRX NM_000554.6(CRX):c.565del (p.Ala189fs) DEL Likely Pathogenic
599149 rs1568626289 GRCh37: 19:48342889-48342889
GRCh38: 19:47839632-47839632
42 CRX NM_000554.6(CRX):c.124G>A (p.Glu42Lys) SNV Likely Pathogenic
216914 rs863224863 GRCh37: 19:48339523-48339523
GRCh38: 19:47836266-47836266
43 CRX NM_000554.6(CRX):c.*2880T>C SNV Uncertain Significance
329775 rs142202442 GRCh37: 19:48346104-48346104
GRCh38: 19:47842847-47842847
44 CRX NM_000554.6(CRX):c.*809C>G SNV Uncertain Significance
329725 rs574128797 GRCh37: 19:48344033-48344033
GRCh38: 19:47840776-47840776
45 CRX NM_000554.6(CRX):c.*2821G>A SNV Uncertain Significance
329773 rs571610746 GRCh37: 19:48346045-48346045
GRCh38: 19:47842788-47842788
46 CRX NM_000554.6(CRX):c.*996C>G SNV Uncertain Significance
329732 rs550939154 GRCh37: 19:48344220-48344220
GRCh38: 19:47840963-47840963
47 CRX NM_000554.6(CRX):c.*2573C>T SNV Uncertain Significance
329766 rs886054559 GRCh37: 19:48345797-48345797
GRCh38: 19:47842540-47842540
48 CRX NM_000554.6(CRX):c.*2539C>T SNV Uncertain Significance
329764 rs146417527 GRCh37: 19:48345763-48345763
GRCh38: 19:47842506-47842506
49 CRX NM_000554.6(CRX):c.*746T>C SNV Uncertain Significance
329721 rs886054552 GRCh37: 19:48343970-48343970
GRCh38: 19:47840713-47840713
50 CRX NM_000554.6(CRX):c.-55C>T SNV Uncertain Significance
329691 rs886054543 GRCh37: 19:48325248-48325248
GRCh38: 19:47821991-47821991

UniProtKB/Swiss-Prot genetic disease variations for Leber Congenital Amaurosis 7:

73
# Symbol AA change Variation ID SNP ID
1 CRX p.Arg90Trp VAR_008714 rs104894673
2 CRX p.Lys88Asn VAR_063919

Expression for Leber Congenital Amaurosis 7

Search GEO for disease gene expression data for Leber Congenital Amaurosis 7.

Pathways for Leber Congenital Amaurosis 7

Pathways related to Leber Congenital Amaurosis 7 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.13 RDH12 GUCY2D
2 10.85 SPATA7 LCA5 CRX
3 10.32 RDH12 GUCY2D

GO Terms for Leber Congenital Amaurosis 7

Cellular components related to Leber Congenital Amaurosis 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor connecting cilium GO:0032391 9.56 SPATA7 LCA5
2 cell projection GO:0042995 9.46 SPATA7 LCA5 GUCY2D CRB1
3 photoreceptor outer segment GO:0001750 9.35 SPATA7 GUCY2D CRB1
4 photoreceptor inner segment GO:0001917 9.1 RDH12 CRB1 AIPL1

Biological processes related to Leber Congenital Amaurosis 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.7 SPATA7 RDH12 GUCY2D CRX AIPL1
2 regulation of rhodopsin mediated signaling pathway GO:0022400 9.56 GUCY2D AIPL1
3 photoreceptor cell maintenance GO:0045494 9.56 SPATA7 RDH12 LCA5 CRB1
4 visual perception GO:0007601 9.36 SPATA7 RDH12 GUCY2D CRX CRB1 AIPL1

Sources for Leber Congenital Amaurosis 7

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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