LCA3
MCID: LBR013
MIFTS: 48

Leber Congenital Amaurosis 3 (LCA3)

Categories: Eye diseases, Genetic diseases, Neuronal diseases
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Aliases & Classifications for Leber Congenital Amaurosis 3

MalaCards integrated aliases for Leber Congenital Amaurosis 3:

Name: Leber Congenital Amaurosis 3 57 11 73 28 12 5 43 14 71
Lca3 57 11 73
Retinitis Pigmentosa 94, Variable Age at Onset, Autosomal Recessive 57
Leber Congenital Amaurosis, Type 3 38
Leber Congenital Amaurosis Type 3 71

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
inter- and intrafamilial variability
age at onset ranges from infancy (lca) to adulthood (rp)


Classifications:



External Ids:

Disease Ontology 11 DOID:0110331
OMIM® 57 604232
OMIM Phenotypic Series 57 PS268000,PS204000
ICD10 31 H35.5
UMLS 71 C1858677 C2931386

Summaries for Leber Congenital Amaurosis 3

OMIM®: 57 Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis, whereas the less aggressive forms are usually considered retinitis pigmentosa (Gu et al., 1997). SPATA7-associated retinopathy shows a variable age at onset, ranging from infancy to adulthood, as well as phenotypic variability, including intrafamilial differences (Wang et al., 2009; Avila-Fernandez et al., 2011; Feldhaus et al., 2018; Sengillo et al., 2018). Mackay et al. (2011) concluded that SPATA7 retinopathy is an infantile-onset severe cone-rod dystrophy with early extensive peripheral retinal atrophy but with variable foveal involvement. For a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis, see LCA1 (204000); for retinitis pigmentosa, see 268000. (604232) (Updated 08-Dec-2022)

MalaCards based summary: Leber Congenital Amaurosis 3, also known as lca3, is related to cone-rod dystrophy 17 and chorioretinal scar. An important gene associated with Leber Congenital Amaurosis 3 is SPATA7 (Spermatogenesis Associated 7), 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 nyctalopia

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 SPATA7 gene on chromosome 14q31.

Related Diseases for Leber Congenital Amaurosis 3

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

(show top 50) (show all 111)
# Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy 17 10.3 GUCY2D AIPL1
2 chorioretinal scar 10.2 RDH12 CRB1
3 retinitis pigmentosa 38 10.2 GUCY2D AIPL1
4 retinal cone dystrophy 1 10.2 GUCY2D CRX
5 gapo syndrome 10.2 CRB1 AIPL1
6 retinitis pigmentosa 12 10.2 CRB1 AIPL1
7 joubert syndrome 7 10.2 RPGRIP1 AIPL1
8 occult macular dystrophy 10.2 GUCY2D CRX
9 cold-induced sweating syndrome 3 10.2 RPE65 GUCY2D
10 pigmented paravenous chorioretinal atrophy 10.1 GUCY2D CRB1 AIPL1
11 morgagni cataract 10.1 RPGRIP1 CRYAA
12 retinitis pigmentosa 9 10.1 IMPDH1 CRX
13 macular dystrophy, dominant cystoid 10.1 RPE65 CRB1
14 vitreous syneresis 10.1 CRYAA CRB1
15 retinitis pigmentosa 22 10.1 TULP1 CRYAA
16 bestrophinopathy, autosomal recessive 10.1 RPE65 CRB1
17 intellectual developmental disorder, autosomal dominant 3 10.1 RD3 GUCY2D
18 scotoma 10.1 RPE65 GUCY2D
19 microphthalmia, syndromic 9 10.1 RDH12 LRAT
20 pseudoretinitis pigmentosa 10.0 TULP1 IMPDH1 CRB1
21 simpson-golabi-behmel syndrome, type 2 10.0 RPGRIP1 LCA5 CEP290
22 partial central choroid dystrophy 10.0 RPE65 GUCY2D CRX
23 hereditary choroidal atrophy 10.0 RPE65 GUCY2D CRX
24 retinal perforation 10.0 RPE65 CRYAA
25 enophthalmos 10.0 GUCY2D CRB1 CEP290
26 retinitis pigmentosa 26 10.0 TULP1 CRYAA
27 syndromic microphthalmia 10.0 LRAT CRYAA
28 retinitis pigmentosa 3 10.0 RPGRIP1 IQCB1
29 nanophthalmos 10.0 TULP1 RPE65 CRB1
30 cone-rod dystrophy 3 10.0 GUCY2D CRYAA CRX
31 kuhnt-junius degeneration 10.0 RPE65 CRYAA
32 cone-rod dystrophy 6 9.9 RPGRIP1 RD3 GUCY2D
33 stargardt disease 1 9.9 TULP1 RDH12 CRX CRB1
34 microphthalmia, isolated 6 9.9 IQCB1 CRB1
35 macular retinal edema 9.9 RPE65 CRB1
36 gyrate atrophy of choroid and retina 9.9 RPE65 RDH12 CRYAA
37 severe early-childhood-onset retinal dystrophy 9.9 SPATA7 RPE65 LRAT LCA5
38 vitreous disease 9.9 RPE65 CRYAA
39 choroideremia 9.9 RPE65 GUCY2D CEP290
40 retinitis pigmentosa 39 9.9 RPGRIP1 RPE65 CEP290
41 retinal vascular disease 9.9 RPE65 CRYAA AIPL1
42 usher syndrome, type i 9.9 TULP1 RPE65 CEP290
43 endophthalmitis 9.9 RPE65 CRYAA
44 retinitis pigmentosa 1 9.9 IMPDH1 CRYAA CRX
45 lens disease 9.9 RPE65 CRYAA CRB1
46 cone-rod dystrophy 13 9.9 SPATA7 RPGRIP1 IQCB1
47 exudative vitreoretinopathy 9.8 CRYAA CRB1 CEP290
48 cogan syndrome 9.8 IQCB1 CEP290
49 nephronophthisis 16 9.8 IQCB1 CEP290
50 nephronophthisis 9 9.8 IQCB1 CEP290

Graphical network of the top 20 diseases related to Leber Congenital Amaurosis 3:



Diseases related to Leber Congenital Amaurosis 3

Symptoms & Phenotypes for Leber Congenital Amaurosis 3

Human phenotypes related to Leber Congenital Amaurosis 3:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 30 Very rare (1%) HP:0000639
2 nyctalopia 30 Very rare (1%) HP:0000662
3 visual loss 30 Very rare (1%) HP:0000572
4 constriction of peripheral visual field 30 HP:0001133

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Eyes:
optic disc pallor
chorioretinal atrophy
night blindness
hypermetropic astigmatism
constricted visual fields
more

Clinical features from OMIM®:

604232 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Leber Congenital Amaurosis 3 according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.04 AIPL1 CEP290 CRB1 CRX CRYAA GUCY2D
2 no effect GR00402-S-2 10.04 AIPL1 CEP290 CRB1 CRX IMPDH1 IQCB1
3 Increased viability GR00386-A-1 8.96 CEP290 RDH12

MGI Mouse Phenotypes related to Leber Congenital Amaurosis 3:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.77 AIPL1 CEP290 CRB1 CRX GUCY2D LCA5
2 pigmentation MP:0001186 9.63 CEP290 CRB1 CRX LCA5 RPE65 TULP1
3 vision/eye MP:0005391 9.53 AIPL1 CEP290 CRB1 CRX CRYAA GUCY2D

Drugs & Therapeutics for Leber Congenital Amaurosis 3

Search Clinical Trials, NIH Clinical Center for Leber Congenital Amaurosis 3

Cochrane evidence based reviews: leber congenital amaurosis 3

Genetic Tests for Leber Congenital Amaurosis 3

Genetic tests related to Leber Congenital Amaurosis 3:

# Genetic test Affiliating Genes
1 Leber Congenital Amaurosis 3 28 SPATA7

Anatomical Context for Leber Congenital Amaurosis 3

Organs/tissues related to Leber Congenital Amaurosis 3:

MalaCards : Retina, Eye, Bone, Bone Marrow, Lung

Publications for Leber Congenital Amaurosis 3

Articles related to Leber Congenital Amaurosis 3:

(show all 32)
# Title Authors PMID Year
1
Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa. 62 57 5
19268277 2009
2
Phenotypic expansion and progression of SPATA7-associated retinitis pigmentosa. 57 5
29411205 2018
3
SPATA7: Evolving phenotype from cone-rod dystrophy to retinitis pigmentosa. 57 5
26854980 2016
4
Late onset retinitis pigmentosa. 57 5
22136677 2011
5
Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations. 57 5
21310915 2011
6
The spermatogenesis-associated protein-7 (SPATA7) gene - an overview. 62 57
32799588 2020
7
Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina. 62 57
25398945 2015
8
Mutation survey of known LCA genes and loci in the Saudi Arabian population. 62 57
18936139 2009
9
Leber Congenital Amaurosis – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY 62 5
20301475 2004
10
A novel locus for Leber congenital amaurosis on chromosome 14q24. 62 57
9799089 1998
11
Mutations in known disease genes account for the majority of autosomal recessive retinal dystrophies. 5
30054919 2018
12
Conditional loss of Spata7 in photoreceptors causes progressive retinal degeneration in mice. 57
29100828 2018
13
Novel homozygous mutation in the SPATA7 gene causes autosomal recessive retinal degeneration in a consanguineous German family. 57
28481129 2018
14
Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy. 5
29186038 2017
15
Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort. 5
26047050 2015
16
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
17
Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations. 5
26261414 2015
18
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. 5
23847139 2013
19
Next-generation genetic testing for retinitis pigmentosa. 5
22334370 2012
20
Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype. 5
20104588 2010
21
Splicing in action: assessing disease causing sequence changes. 5
16199547 2005
22
Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. 57
9326941 1997
23
Spata7 is required for maintenance of the retinal connecting cilium. 62
35368022 2022
24
The lateralization of left hippocampal CA3 during the retrieval of spatial working memory. 62
32518226 2020
25
Optimal Inhibition of Choroidal Neovascularization by scAAV2 with VMD2 Promoter-driven Active Rap1a in the RPE. 62
31673119 2019
26
Exclusion of LCA5 locus in a consanguineous Turkish family with macular coloboma-type LCA. 62
16082399 2006
27
Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle. 62
16269441 2005
28
Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus. 62
12642313 2003
29
A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis. 62
12567265 2002
30
Monoclonal antibodies for the in vitro detection of small cell lung cancer metastases in human bone marrow. 62
2833399 1988
31
Immunodetection of small cell lung cancer metastases in bone marrow using three monoclonal antibodies. 62
2833400 1988
32
Detection of small cell lung cancer bone marrow metastases by immunofluorescence. 62
2834687 1988

Variations for Leber Congenital Amaurosis 3

ClinVar genetic disease variations for Leber Congenital Amaurosis 3:

5 (show top 50) (show all 284)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SPATA7 NM_018418.5(SPATA7):c.322C>T (p.Arg108Ter) SNV Pathogenic
1395 rs80044281 GRCh37: 14:88883138-88883138
GRCh38: 14:88416794-88416794
2 SPATA7 NM_018418.5(SPATA7):c.960dup (p.Pro321fs) DUP Pathogenic
1396 rs386834241 GRCh37: 14:88895738-88895739
GRCh38: 14:88429394-88429395
3 SPATA7 NM_018418.5(SPATA7):c.1183C>T (p.Arg395Ter) SNV Pathogenic
1397 rs75895925 GRCh37: 14:88903909-88903909
GRCh38: 14:88437565-88437565
4 SPATA7 SPATA7, 3-BP DEL, 1227CAC DEL Pathogenic
30805 GRCh37:
GRCh38:
5 SPATA7 NM_018418.5(SPATA7):c.253C>T (p.Arg85Ter) SNV Pathogenic
30806 rs140287375 GRCh37: 14:88883069-88883069
GRCh38: 14:88416725-88416725
6 SPATA7 NM_018418.5(SPATA7):c.1171C>T (p.Arg391Ter) SNV Pathogenic
489379 rs374268850 GRCh37: 14:88903897-88903897
GRCh38: 14:88437553-88437553
7 SPATA7 NM_018418.5(SPATA7):c.1200_1201del (p.Asn400fs) DEL Pathogenic
857630 rs2077123914 GRCh37: 14:88903925-88903926
GRCh38: 14:88437581-88437582
8 SPATA7 NM_018418.5(SPATA7):c.763C>T (p.Gln255Ter) SNV Pathogenic
977969 rs1387058171 GRCh37: 14:88892966-88892966
GRCh38: 14:88426622-88426622
9 SPATA7 NM_018418.5(SPATA7):c.845+1G>A SNV Pathogenic
977970 rs761981554 GRCh37: 14:88893049-88893049
GRCh38: 14:88426705-88426705
10 SPATA7 NM_018418.5(SPATA7):c.903_904del (p.Ile302fs) DEL Pathogenic
977971 rs1240995964 GRCh37: 14:88894030-88894031
GRCh38: 14:88427686-88427687
11 SPATA7 NM_018418.5(SPATA7):c.1161-1G>C SNV Pathogenic
977972 rs779101498 GRCh37: 14:88903886-88903886
GRCh38: 14:88437542-88437542
12 SPATA7 NM_018418.5(SPATA7):c.1126_1127del (p.Thr375_Asp376insTer) DEL Pathogenic
977973 rs1227147156 GRCh37: 14:88899521-88899522
GRCh38: 14:88433177-88433178
13 SPATA7 NM_018418.5(SPATA7):c.19+1G>C SNV Pathogenic
977974 rs2075555029 GRCh37: 14:88852182-88852182
GRCh38: 14:88385838-88385838
14 SPATA7 NM_018418.4:c.(?_-175)_(238+1_239-1)del DEL Pathogenic
978017 GRCh37:
GRCh38:
15 SPATA7 NM_018418.5(SPATA7):c.1102_1103del (p.Leu368fs) DEL Pathogenic
631720 rs777069665 GRCh37: 14:88899497-88899498
GRCh38: 14:88433153-88433154
16 SPATA7 NM_018418.5(SPATA7):c.1058dup (p.Ser354fs) DUP Pathogenic
236497 rs878853385 GRCh37: 14:88897540-88897541
GRCh38: 14:88431196-88431197
17 SPATA7 NC_000014.8:g.(?_88852143)_(88904786_?)del DEL Pathogenic
1071024 GRCh37: 14:88852143-88904786
GRCh38:
18 SPATA7 NM_018418.5(SPATA7):c.1210G>T (p.Glu404Ter) SNV Pathogenic
1072160 GRCh37: 14:88903936-88903936
GRCh38: 14:88437592-88437592
19 SPATA7 NM_018418.5(SPATA7):c.265_268del (p.Leu89fs) DEL Pathogenic
1076482 GRCh37: 14:88883080-88883083
GRCh38: 14:88416736-88416739
20 SPATA7 NM_018418.5(SPATA7):c.1199_1203del (p.Asn400fs) DEL Pathogenic
1076781 GRCh37: 14:88903922-88903926
GRCh38: 14:88437578-88437582
21 SPATA7 NC_000014.8:g.(?_88852163)_(88862567_?)del DEL Pathogenic
1076992 GRCh37: 14:88852163-88862567
GRCh38:
22 SPATA7 NM_018418.5(SPATA7):c.1195C>T (p.Gln399Ter) SNV Pathogenic
854754 rs2077123571 GRCh37: 14:88903921-88903921
GRCh38: 14:88437577-88437577
23 SPATA7 NM_018418.5(SPATA7):c.699_700del (p.Phe233_Ser234insTer) DEL Pathogenic
801398 rs567890014 GRCh37: 14:88892900-88892901
GRCh38: 14:88426556-88426557
24 SPATA7 NM_018418.5(SPATA7):c.288T>A (p.Cys96Ter) SNV Pathogenic
191050 rs767745816 GRCh37: 14:88883104-88883104
GRCh38: 14:88416760-88416760
25 SPATA7 NM_018418.5(SPATA7):c.19+2T>A SNV Pathogenic
1686226 GRCh37: 14:88852183-88852183
GRCh38: 14:88385839-88385839
26 SPATA7 NM_018418.5(SPATA7):c.418dup (p.Met140fs) DUP Pathogenic
1451496 GRCh37: 14:88892618-88892619
GRCh38: 14:88426274-88426275
27 SPATA7 NM_018418.5(SPATA7):c.969_975del (p.Gly324fs) DEL Pathogenic
1411536 GRCh37: 14:88895748-88895754
GRCh38: 14:88429404-88429410
28 SPATA7 NM_018418.5(SPATA7):c.700dup (p.Ser234fs) DUP Pathogenic
1458662 GRCh37: 14:88892899-88892900
GRCh38: 14:88426555-88426556
29 SPATA7 NM_018418.5(SPATA7):c.1418del (p.Met473fs) DEL Pathogenic
1713268 GRCh37: 14:88904384-88904384
GRCh38: 14:88438040-88438040
30 SPATA7 NM_018418.5(SPATA7):c.949dup (p.Ile317fs) DUP Likely Pathogenic
1213930 GRCh37: 14:88895722-88895723
GRCh38: 14:88429378-88429379
31 SPATA7 NM_018418.5(SPATA7):c.1373del (p.Val458fs) DEL Likely Pathogenic
503686 rs753697847 GRCh37: 14:88904339-88904339
GRCh38: 14:88437995-88437995
32 SPATA7 NM_018418.5(SPATA7):c.1361dup (p.Asn454fs) DUP Likely Pathogenic
968304 rs2077137130 GRCh37: 14:88904321-88904322
GRCh38: 14:88437977-88437978
33 SPATA7 NM_018418.5(SPATA7):c.1160G>A (p.Arg387Lys) SNV Likely Pathogenic
939148 rs868032740 GRCh37: 14:88899556-88899556
GRCh38: 14:88433212-88433212
34 SPATA7 NM_018418.5(SPATA7):c.20-1G>A SNV Likely Pathogenic
941590 rs554224437 GRCh37: 14:88857724-88857724
GRCh38: 14:88391380-88391380
35 SPATA7 NM_018418.5(SPATA7):c.94+2T>C SNV Likely Pathogenic
189245 rs786204787 GRCh37: 14:88857801-88857801
GRCh38: 14:88391457-88391457
36 SPATA7 NM_018418.5(SPATA7):c.372+11A>G SNV Conflicting Interpretations Of Pathogenicity
314780 rs757636745 GRCh37: 14:88883199-88883199
GRCh38: 14:88416855-88416855
37 SPATA7 NM_018418.5(SPATA7):c.729C>T (p.Arg243=) SNV Conflicting Interpretations Of Pathogenicity
95908 rs151338404 GRCh37: 14:88892932-88892932
GRCh38: 14:88426588-88426588
38 SPATA7 NM_018418.5(SPATA7):c.387G>A (p.Pro129=) SNV Conflicting Interpretations Of Pathogenicity
314781 rs199727517 GRCh37: 14:88892590-88892590
GRCh38: 14:88426246-88426246
39 SPATA7 NM_018418.5(SPATA7):c.57G>T (p.Pro19=) SNV Conflicting Interpretations Of Pathogenicity
314775 rs367830780 GRCh37: 14:88857762-88857762
GRCh38: 14:88391418-88391418
40 SPATA7 NM_018418.5(SPATA7):c.57G>A (p.Pro19=) SNV Conflicting Interpretations Of Pathogenicity
719794 rs367830780 GRCh37: 14:88857762-88857762
GRCh38: 14:88391418-88391418
41 SPATA7 NM_018418.5(SPATA7):c.19+7G>A SNV Conflicting Interpretations Of Pathogenicity
766822 rs199560035 GRCh37: 14:88852188-88852188
GRCh38: 14:88385844-88385844
42 SPATA7 NM_018418.5(SPATA7):c.207G>A (p.Ser69=) SNV Conflicting Interpretations Of Pathogenicity
314777 rs142913613 GRCh37: 14:88862516-88862516
GRCh38: 14:88396172-88396172
43 SPATA7 NM_018418.5(SPATA7):c.913-14T>A SNV Conflicting Interpretations Of Pathogenicity
314784 rs185459765 GRCh37: 14:88895678-88895678
GRCh38: 14:88429334-88429334
44 SPATA7 NM_018418.5(SPATA7):c.1216-4C>T SNV Conflicting Interpretations Of Pathogenicity
314787 rs755958987 GRCh37: 14:88904178-88904178
GRCh38: 14:88437834-88437834
45 SPATA7 NM_018418.5(SPATA7):c.815G>A (p.Arg272Gln) SNV Conflicting Interpretations Of Pathogenicity
198231 rs34682727 GRCh37: 14:88893018-88893018
GRCh38: 14:88426674-88426674
46 SPATA7 NM_018418.5(SPATA7):c.373-15A>G SNV Conflicting Interpretations Of Pathogenicity
932052 rs781587897 GRCh37: 14:88892561-88892561
GRCh38: 14:88426217-88426217
47 SPATA7 NM_018418.5(SPATA7):c.854C>A (p.Ser285Tyr) SNV Uncertain Significance
937193 rs2076832785 GRCh37: 14:88893982-88893982
GRCh38: 14:88427638-88427638
48 SPATA7 NM_018418.5(SPATA7):c.343T>A (p.Ser115Thr) SNV Uncertain Significance
855468 rs373779457 GRCh37: 14:88883159-88883159
GRCh38: 14:88416815-88416815
49 SPATA7 NM_018418.5(SPATA7):c.103A>G (p.Thr35Ala) SNV Uncertain Significance
969174 rs368604833 GRCh37: 14:88859745-88859745
GRCh38: 14:88393401-88393401
50 SPATA7 NM_018418.5(SPATA7):c.1403A>G (p.Gln468Arg) SNV Uncertain Significance
971713 rs146142429 GRCh37: 14:88904369-88904369
GRCh38: 14:88438025-88438025

Expression for Leber Congenital Amaurosis 3

Search GEO for disease gene expression data for Leber Congenital Amaurosis 3.

Pathways for Leber Congenital Amaurosis 3

Pathways related to Leber Congenital Amaurosis 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.32 RPE65 RDH12 LRAT GUCY2D
2 12.06 SPATA7 LCA5 IQCB1 CEP290
3
Show member pathways
11.76 LCA5 IQCB1 CRX CEP290
4 11.53 RPE65 RDH12 LRAT GUCY2D
5
Show member pathways
11.47 RPE65 RDH12 LRAT
6
Show member pathways
11.23 RPE65 RDH12 LRAT
7 11.22 TULP1 SPATA7 RPGRIP1 LCA5 IQCB1 CRX
8 11.17 RPE65 RDH12 LRAT
9 10.62 RPE65 RDH12 LRAT GUCY2D
10 10.59 RPE65 RDH12 LRAT

GO Terms for Leber Congenital Amaurosis 3

Cellular components related to Leber Congenital Amaurosis 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cilium GO:0005929 9.97 TULP1 RPGRIP1 LCA5 IQCB1 CEP290
2 cell projection GO:0042995 9.91 TULP1 SPATA7 RPGRIP1 RD3 LCA5 GUCY2D
3 photoreceptor inner segment GO:0001917 9.85 AIPL1 CRB1 RD3 RDH12 TULP1
4 rod photoreceptor outer segment GO:0120200 9.71 SPATA7 RD3
5 photoreceptor connecting cilium GO:0032391 9.65 SPATA7 RPGRIP1 LCA5 IQCB1 CEP290
6 photoreceptor distal connecting cilium GO:0120206 9.62 SPATA7 RPGRIP1
7 photoreceptor outer segment GO:0001750 9.36 TULP1 SPATA7 RD3 IQCB1 GUCY2D CRB1

Biological processes related to Leber Congenital Amaurosis 3 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 retinol metabolic process GO:0042572 9.97 RPE65 RDH12 LRAT
2 photoreceptor cell maintenance GO:0045494 9.93 TULP1 SPATA7 RDH12 LCA5 IQCB1 CRB1
3 retina homeostasis GO:0001895 9.91 AIPL1 RPE65 TULP1
4 retinoid metabolic process GO:0001523 9.88 RPE65 RDH12 LRAT
5 retina development in camera-type eye GO:0060041 9.87 TULP1 RPGRIP1 RPE65 RD3 CRB1
6 detection of light stimulus involved in visual perception GO:0050908 9.85 TULP1 RPE65 CRB1
7 response to stimulus GO:0050896 9.83 AIPL1 CRX CRYAA GUCY2D LRAT RD3
8 regulation of rhodopsin mediated signaling pathway GO:0022400 9.81 GUCY2D AIPL1
9 eye photoreceptor cell development GO:0042462 9.8 CEP290 CRB1 RPGRIP1 TULP1
10 protein localization to photoreceptor outer segment GO:1903546 9.78 TULP1 SPATA7
11 vitamin A metabolic process GO:0006776 9.76 RPE65 LRAT
12 retina morphogenesis in camera-type eye GO:0060042 9.7 RPE65 CRB1
13 visual perception GO:0007601 9.68 TULP1 SPATA7 RPGRIP1 RPE65 RDH12 RD3

Sources for Leber Congenital Amaurosis 3

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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