LCA13
MCID: LBR008
MIFTS: 48

Leber Congenital Amaurosis 13 (LCA13)

Categories: Eye diseases, Genetic diseases, Neuronal diseases
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Aliases & Classifications for Leber Congenital Amaurosis 13

MalaCards integrated aliases for Leber Congenital Amaurosis 13:

Name: Leber Congenital Amaurosis 13 57 11 73 28 12 5 43 14 71
Retinitis Pigmentosa 53 73 5 71
Lca13 57 11 73
Leber Congenital Amaurosis, Type 13 38
Rp53 73

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
some patients with onset of severe disease in infancy are diagnosed with leber congenital amaurosis, whereas other patients with childhood onset of less severe retinal dystrophy are diagnosed with retinitis pigmentosa


Classifications:



External Ids:

Disease Ontology 11 DOID:0110330
OMIM® 57 612712
OMIM Phenotypic Series 57 PS268000,PS204000
ICD10 31 H35.5
SNOMED-CT via HPO 69 13164000 302200001 314407005
UMLS 71 C2675186 C3150208

Summaries for Leber Congenital Amaurosis 13

UniProtKB/Swiss-Prot 73 Leber congenital amaurosis 13: 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.

Retinitis pigmentosa 53: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP53 inheritance is autosomal dominant or autosomal recessive.

MalaCards based summary: Leber Congenital Amaurosis 13, also known as retinitis pigmentosa 53, is related to retinitis pigmentosa 84 and retinal dystrophy, juvenile cataracts, and short stature syndrome. An important gene associated with Leber Congenital Amaurosis 13 is RDH12 (Retinol Dehydrogenase 12), and among its related pathways/superpathways are Visual phototransduction and Ciliary landscape. Affiliated tissues include retina, eye and bone, and related phenotypes are reduced visual acuity and optic disc pallor

Disease Ontology: 11 A Leber congenital amaurosis thatis characterized by mild or absent hyperopia, transient improvement of visual acuity, and eventual macular atrophy with severe disease progression and has material basis in mutation in the RDH12 gene on chromosome 14q23.3.

More information from OMIM: 612712 PS268000,PS204000

Related Diseases for Leber Congenital Amaurosis 13

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

(show top 50) (show all 57)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 84 10.2 RDH12 GPHN
2 retinal dystrophy, juvenile cataracts, and short stature syndrome 10.2 RDH11 GPHN
3 stargardt disease 1 10.1 TULP1 RDH12 GPHN
4 pseudoretinitis pigmentosa 10.0 TULP1 IMPDH1
5 hereditary retinal dystrophy 10.0 SPATA7 RPE65
6 simpson-golabi-behmel syndrome, type 2 10.0 RPGRIP1 LCA5
7 joubert syndrome 7 10.0 RPGRIP1 AIPL1
8 pseudopapilledema 9.9 RPE65 RDH12 AIPL1
9 leber congenital amaurosis 7 9.9 SPATA7 RDH12 LCA5 AIPL1
10 retinitis pigmentosa 3 9.9 RPGRIP1 IQCB1
11 cone-rod dystrophy 13 9.9 SPATA7 RPGRIP1 IQCB1
12 gyrate atrophy of choroid and retina 9.9 RPE65 RDH12
13 enhanced s-cone syndrome 9.9 RPE65 AIPL1
14 late-onset retinal degeneration 9.8 TULP1 RPE65 AIPL1
15 retinitis pigmentosa 39 9.8 RPGRIP1 RPE65
16 color blindness 9.8 RPGRIP1 RPE65 AIPL1
17 choroidal dystrophy, central areolar, 1 9.7 RPE65 AIPL1
18 nephronophthisis 9.7 SPATA7 RPGRIP1 LCA5 IQCB1
19 microphthalmia, syndromic 9 9.7 RDH8 RDH12 RDH11 LRAT
20 degeneration of macula and posterior pole 9.7 RPE65 RDH8 LRAT
21 coloboma of macula 9.6 RPE65 RDH12 LCA5 IQCB1 AIPL1
22 retinitis 9.6 TULP1 RPGRIP1 RPE65 IMPDH1
23 bothnia retinal dystrophy 9.6 RDH8 RDH14 RDH11 LRAT
24 night blindness 9.6 TULP1 RPE65 RDH12 LRAT
25 severe early-childhood-onset retinal dystrophy 9.5 SPATA7 RPE65 LRAT LCA5
26 macular degeneration, age-related, 1 9.5 RPE65 RDH8 RDH12 LRAT
27 leber congenital amaurosis 12 9.3 SPATA7 RPE65 LCA5 KCNJ13 IQCB1 AIPL1
28 leber congenital amaurosis 1 9.3 TULP1 RPGRIP1 RPE65 LRAT LCA5
29 leber congenital amaurosis 2 9.1 TULP1 SPATA7 RPE65 RDH12 LRAT LCA5
30 leber congenital amaurosis 15 9.1 TULP1 SPATA7 RDH12 LCA5 KCNJ13 IQCB1
31 leber congenital amaurosis 11 9.1 TULP1 SPATA7 RDH12 LCA5 KCNJ13 IQCB1
32 achromatopsia 9.1 TULP1 SPATA7 RPGRIP1 RPE65 RDH12 LCA5
33 bardet-biedl syndrome 9.0 TULP1 SPATA7 RPGRIP1 RPE65 RDH12 LCA5
34 leber congenital amaurosis 16 9.0 TULP1 SPATA7 RPE65 RDH12 LCA5 KCNJ13
35 fundus albipunctatus 9.0 TULP1 RPE65 RDH8 RDH14 RDH12 RDH11
36 eye degenerative disease 9.0 TULP1 RPE65 RDH12 LRAT IQCB1 IMPDH1
37 leber congenital amaurosis 8 8.9 TULP1 SPATA7 RPE65 RDH12 LRAT LCA5
38 leber congenital amaurosis 6 8.9 TULP1 SPATA7 RPGRIP1 RDH12 LRAT LCA5
39 leber congenital amaurosis 9 8.9 TULP1 SPATA7 RPE65 RDH12 LRAT LCA5
40 senior-loken syndrome 1 8.9 TULP1 SPATA7 RPGRIP1 RPE65 RDH12 LCA5
41 blood group, globoside system 8.9 ZFYVE26 TULP1 RPGRIP1 RPE65 RDH12 LRAT
42 leber congenital amaurosis 10 8.8 TULP1 SPATA7 RPGRIP1 RPE65 RDH12 LCA5
43 keratoconus 8.7 TULP1 SPATA7 RPE65 RDH12 LRAT LCA5
44 stargardt disease 8.7 TULP1 SPATA7 RPE65 RDH8 RDH12 RDH11
45 retinal degeneration 8.6 ZFYVE26 TULP1 SPATA7 RPGRIP1 RPE65 RDH12
46 leber congenital amaurosis 14 8.6 TULP1 SPATA7 RPE65 RDH12 LRAT LCA5
47 congenital stationary night blindness 8.6 TULP1 RPE65 RDH8 RDH12 RDH11 LRAT
48 eye disease 8.5 ZFYVE26 TULP1 RPGRIP1 RPE65 RDH8 RDH12
49 cone dystrophy 8.5 TULP1 SPATA7 RPGRIP1 RPE65 RDH12 RDH11
50 usher syndrome 8.4 TULP1 SPATA7 RPGRIP1 RPE65 RDH12 LRAT

Graphical network of the top 20 diseases related to Leber Congenital Amaurosis 13:



Diseases related to Leber Congenital Amaurosis 13

Symptoms & Phenotypes for Leber Congenital Amaurosis 13

Human phenotypes related to Leber Congenital Amaurosis 13:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 reduced visual acuity 30 HP:0007663
2 optic disc pallor 30 HP:0000543
3 retinal dystrophy 30 HP:0000556
4 attenuation of retinal blood vessels 30 HP:0007843
5 bone spicule pigmentation of the retina 30 HP:0007737

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Eyes:
attenuation of retinal arterioles
retinal dystrophy (rods and cones affected), early onset
intraretinal bone spicule pigmentation
legal blindness in early adulthood (in some patients)
preservation of central vision into later adulthood (in some patients)

Clinical features from OMIM®:

612712 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Leber Congenital Amaurosis 13 according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.04 AIPL1 GPHN IMPDH1 IQCB1 KCNJ13 LCA5
2 no effect GR00402-S-2 10.04 AIPL1 GPHN IMPDH1 IQCB1 KCNJ13 LRAT
3 Increased viability GR00386-A-1 8.65 RDH12

MGI Mouse Phenotypes related to Leber Congenital Amaurosis 13:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.7 AIPL1 GPHN LCA5 LRAT RDH12 RDH8
2 vision/eye MP:0005391 9.47 AIPL1 GPHN IMPDH1 IQCB1 LCA5 LRAT

Drugs & Therapeutics for Leber Congenital Amaurosis 13

Search Clinical Trials, NIH Clinical Center for Leber Congenital Amaurosis 13

Cochrane evidence based reviews: leber congenital amaurosis 13

Genetic Tests for Leber Congenital Amaurosis 13

Genetic tests related to Leber Congenital Amaurosis 13:

# Genetic test Affiliating Genes
1 Leber Congenital Amaurosis 13 28 RDH12

Anatomical Context for Leber Congenital Amaurosis 13

Organs/tissues related to Leber Congenital Amaurosis 13:

MalaCards : Retina, Eye, Bone, Colon

Publications for Leber Congenital Amaurosis 13

Articles related to Leber Congenital Amaurosis 13:

(show top 50) (show all 66)
# Title Authors PMID Year
1
Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mapping. 57 5
19140180 2009
2
Association of a novel mutation in the retinol dehydrogenase 12 (RDH12) gene with autosomal dominant retinitis pigmentosa. 57 5
18779497 2008
3
RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expression. 57 5
17197551 2007
4
Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle. 57 5
16269441 2005
5
Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. 57 5
15322982 2004
6
Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. 57 5
15258582 2004
7
Leber Congenital Amaurosis – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY 62 5
20301475 2004
8
Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients. 5
32865313 2020
9
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy. 5
31630094 2020
10
Expanding the phenotypic spectrum in RDH12-associated retinal disease. 5
32014858 2020
11
Detailed clinical characterisation, unique features and natural history of autosomal recessive RDH12-associated retinal degeneration. 5
30979730 2019
12
PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY. 5
30134391 2019
13
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 5
30718709 2019
14
The co-occurrence of rare non-ocular phenotypes in patients with inherited retinal degenerations. 5
31814694 2019
15
RDH12 Mutations Cause a Severe Retinal Degeneration With Relatively Spared Rod Function. 5
30372751 2018
16
Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy. 5
29186038 2017
17
The genetic profile of Leber congenital amaurosis in an Australian cohort. 5
29178642 2017
18
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 5
28492532 2017
19
Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease. 5
28559085 2017
20
Phenotype-genotype correlation with Sanger sequencing identified retinol dehydrogenase 12 (RDH12) compound heterozygous variants in a Chinese family with Leber congenital amaurosis. 5
28471114 2017
21
Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families. 5
28418496 2017
22
Unravelling the genetic basis of simplex Retinitis Pigmentosa cases. 5
28157192 2017
23
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. 5
28041643 2017
24
Clinical and genetic characteristics of Leber congenital amaurosis with novel mutations in known genes based on a Chinese eastern coast Han population. 5
27422788 2016
25
Molecular findings from 537 individuals with inherited retinal disease. 5
27208204 2016
26
Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies. 5
26355662 2016
27
Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel. 5
27032803 2016
28
[Genotype-phenotype correlation in ten Tunisian families with non-syndromic retinitis pigmentosa]. 5
26868535 2016
29
NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa. 5
26667666 2015
30
Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa. 5
26497376 2015
31
Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies. 5
26306921 2015
32
High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting. 5
25910913 2015
33
Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation. 5
26103963 2015
34
Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort. 5
26047050 2015
35
BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies. 5
25561519 2015
36
Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa. 5
26124963 2015
37
Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping. 5
24474277 2014
38
Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing. 5
25133751 2014
39
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. 5
23847139 2013
40
Exome sequencing identifies RDH12 compound heterozygous mutations in a family with severe retinitis pigmentosa. 5
23900199 2013
41
Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa. 5
23661369 2013
42
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. 5
23105016 2013
43
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
44
RDH12 retinopathy: novel mutations and phenotypic description. 5
22065924 2011
45
Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray. 5
21151602 2010
46
Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes. 5
20683928 2010
47
Disease-associated variants of microsomal retinol dehydrogenase 12 (RDH12) are degraded at mutant-specific rates. 5
20006610 2010
48
Molecular characterization of retinitis pigmentosa in Saudi Arabia. 5
19956407 2009
49
Complexity of phenotype-genotype correlations in Spanish patients with RDH12 mutations. 5
19011012 2009
50
Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture. 5
17964524 2007

Variations for Leber Congenital Amaurosis 13

ClinVar genetic disease variations for Leber Congenital Amaurosis 13:

5 (show top 50) (show all 301)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GPHN, RDH12 NM_152443.3(RDH12):c.565C>T (p.Gln189Ter) SNV Pathogenic
2048 rs104894470 GRCh37: 14:68193814-68193814
GRCh38: 14:67727097-67727097
2 GPHN, RDH12 NM_152443.3(RDH12):c.451C>A (p.His151Asn) SNV Pathogenic
2052 rs104894475 GRCh37: 14:68193700-68193700
GRCh38: 14:67726983-67726983
3 GPHN, RDH12, ZFYVE26 NM_152443.3(RDH12):c.688C>G (p.Pro230Ala) SNV Pathogenic
2053 rs104894476 GRCh37: 14:68195937-68195937
GRCh38: 14:67729220-67729220
4 GPHN, RDH12 NM_152443.3(RDH12):c.523T>C (p.Ser175Pro) SNV Pathogenic
2056 rs104894472 GRCh37: 14:68193772-68193772
GRCh38: 14:67727055-67727055
5 GPHN, RDH12 NM_152443.3(RDH12):c.152T>A (p.Ile51Asn) SNV Pathogenic
2057 rs104894473 GRCh37: 14:68191273-68191273
GRCh38: 14:67724556-67724556
6 GPHN, RDH12 NM_152443.3(RDH12):c.429_432delinsGGT (p.His143fs) INDEL Pathogenic
977808 rs2038182629 GRCh37: 14:68192853-68192856
GRCh38: 14:67726136-67726139
7 GPHN, RDH12 NM_152443.3(RDH12):c.619A>G (p.Asn207Asp) SNV Pathogenic
805924 rs745871149 GRCh37: 14:68193868-68193868
GRCh38: 14:67727151-67727151
8 GPHN, RDH12, ZFYVE26 NM_152443.3(RDH12):c.659-2A>T SNV Pathogenic
977810 rs2038231425 GRCh37: 14:68195906-68195906
GRCh38: 14:67729189-67729189
9 GPHN, RDH12 NM_152443.3(RDH12):c.38C>A (p.Ser13Ter) SNV Pathogenic
977812 rs912107188 GRCh37: 14:68189397-68189397
GRCh38: 14:67722680-67722680
10 GPHN, RDH12 NM_152443.3(RDH12):c.43del (p.Leu15fs) DEL Pathogenic
1454036 GRCh37: 14:68189401-68189401
GRCh38: 14:67722684-67722684
11 GPHN, RDH12 NM_152443.3(RDH12):c.68+1G>A SNV Pathogenic
1419341 GRCh37: 14:68189428-68189428
GRCh38: 14:67722711-67722711
12 GPHN, RDH12 NM_152443.3(RDH12):c.52del (p.Met17_Val18insTer) DEL Pathogenic
1451652 GRCh37: 14:68189410-68189410
GRCh38: 14:67722693-67722693
13 GPHN, RDH12, ZFYVE26 NM_152443.3(RDH12):c.866G>A (p.Trp289Ter) SNV Pathogenic
1452807 GRCh37: 14:68200480-68200480
GRCh38: 14:67733763-67733763
14 GPHN, RDH12 NM_152443.3(RDH12):c.393T>A (p.Cys131Ter) SNV Pathogenic
1071767 GRCh37: 14:68192817-68192817
GRCh38: 14:67726100-67726100
15 GPHN, RDH12 NM_152443.3(RDH12):c.524C>A (p.Ser175Ter) SNV Pathogenic
1076205 GRCh37: 14:68193773-68193773
GRCh38: 14:67727056-67727056
16 GPHN, RDH12, ZFYVE26 NM_152443.3(RDH12):c.778del (p.Glu260fs) DEL Pathogenic
Pathogenic
143163 rs527236099 GRCh37: 14:68196025-68196025
GRCh38: 14:67729308-67729308
17 GPHN, RDH12 NM_152443.3(RDH12):c.377C>T (p.Ala126Val) SNV Pathogenic
Pathogenic
2061 rs202126574 GRCh37: 14:68192801-68192801
GRCh38: 14:67726084-67726084
18 GPHN, RDH12 NM_152443.3(RDH12):c.63_66del (p.Ile22fs) MICROSAT Pathogenic
203385 rs794729650 GRCh37: 14:68189416-68189419
GRCh38: 14:67722699-67722702
19 GPHN, RDH12, ZFYVE26 NM_152443.3(RDH12):c.784dup (p.Ala262fs) DUP Pathogenic
648633 rs1594867551 GRCh37: 14:68196028-68196029
GRCh38: 14:67729311-67729312
20 GPHN, RDH12 NM_152443.3(RDH12):c.609C>A (p.Ser203Arg) SNV Pathogenic
663830 rs753959716 GRCh37: 14:68193858-68193858
GRCh38: 14:67727141-67727141
21 GPHN, RDH12, ZFYVE26 NM_152443.3(RDH12):c.698_699delinsAA (p.Val233Glu) INDEL Pathogenic
837228 rs2038232911 GRCh37: 14:68195947-68195948
GRCh38: 14:67729230-67729231
22 GPHN, RDH12 NM_152443.3(RDH12):c.437T>A (p.Val146Asp) SNV Pathogenic
841398 rs116649873 GRCh37: 14:68192861-68192861
GRCh38: 14:67726144-67726144
23 GPHN, RDH12 NM_152443.3(RDH12):c.496del (p.Ala166fs) DEL Pathogenic
1072336 GRCh37: 14:68193745-68193745
GRCh38: 14:67727028-67727028
24 GPHN, RDH12, ZFYVE26 NM_152443.3(RDH12):c.823G>T (p.Glu275Ter) SNV Pathogenic
1072734 GRCh37: 14:68196072-68196072
GRCh38: 14:67729355-67729355
25 GPHN, RDH12 NM_152443.3(RDH12):c.601T>C (p.Cys201Arg) SNV Pathogenic
866060 rs2038196341 GRCh37: 14:68193850-68193850
GRCh38: 14:67727133-67727133
26 GPHN, RDH12 NM_152443.3(RDH12):c.226G>C (p.Gly76Arg) SNV Pathogenic
1074472 GRCh37: 14:68191854-68191854
GRCh38: 14:67725137-67725137
27 GPHN, RDH12 NM_152443.3(RDH12):c.250C>T (p.Arg84Ter) SNV Pathogenic
488802 rs1349849938 GRCh37: 14:68191878-68191878
GRCh38: 14:67725161-67725161
28 GPHN, RDH12 NM_152443.3(RDH12):c.505C>T (p.Arg169Trp) SNV Pathogenic
866945 rs761167763 GRCh37: 14:68193754-68193754
GRCh38: 14:67727037-67727037
29 GPHN, RDH12, ZFYVE26 NM_152443.3(RDH12):c.812_813del (p.Ala271fs) DEL Pathogenic
1071004 GRCh37: 14:68196061-68196062
GRCh38: 14:67729344-67729345
30 GPHN, RDH12 NM_152443.3(RDH12):c.226G>A (p.Gly76Arg) SNV Pathogenic
986946 rs368489658 GRCh37: 14:68191854-68191854
GRCh38: 14:67725137-67725137
31 GPHN, RDH12 NM_152443.3(RDH12):c.580dup (p.Tyr194fs) DUP Pathogenic
1075351 GRCh37: 14:68193828-68193829
GRCh38: 14:67727111-67727112
32 GPHN, RDH12 NM_152443.3(RDH12):c.658+1G>A SNV Pathogenic
2058 rs387906272 GRCh37: 14:68193908-68193908
GRCh38: 14:67727191-67727191
33 GPHN, RDH12 NM_152443.3(RDH12):c.278T>C (p.Leu93Pro) SNV Pathogenic
1067256 GRCh37: 14:68191906-68191906
GRCh38: 14:67725189-67725189
34 GPHN, RDH12, ZFYVE26 NM_152443.3(RDH12):c.680_683del (p.Ala227fs) DEL Pathogenic
836859 rs2038232008 GRCh37: 14:68195929-68195932
GRCh38: 14:67729212-67729215
35 GPHN, RDH12 NM_152443.3(RDH12):c.210dup (p.Arg71fs) DUP Pathogenic
197878 rs797044761 GRCh37: 14:68191837-68191838
GRCh38: 14:67725120-67725121
36 GPHN, RDH12 NM_152443.3(RDH12):c.582C>G (p.Tyr194Ter) SNV Pathogenic
934121 rs753074829 GRCh37: 14:68193831-68193831
GRCh38: 14:67727114-67727114
37 GPHN, RDH12 NM_152443.3(RDH12):c.535C>G (p.His179Asp) SNV Pathogenic
935496 rs2038195054 GRCh37: 14:68193784-68193784
GRCh38: 14:67727067-67727067
38 GPHN, RDH12, ZFYVE26 NM_152443.3(RDH12):c.869dup (p.Ser291fs) DUP Pathogenic
936624 rs2038316193 GRCh37: 14:68200482-68200483
GRCh38: 14:67733765-67733766
39 GPHN, RDH12, ZFYVE26 NM_152443.3(RDH12):c.848+2T>C SNV Pathogenic
236431 rs878853338 GRCh37: 14:68196099-68196099
GRCh38: 14:67729382-67729382
40 GPHN, RDH12 NM_152443.3(RDH12):c.488del (p.Lys163fs) DEL Pathogenic
970561 rs2038193754 GRCh37: 14:68193735-68193735
GRCh38: 14:67727018-67727018
41 GPHN, RDH12, ZFYVE26 NM_152443.3(RDH12):c.715dup (p.Arg239fs) DUP Pathogenic
865754 rs760813820 GRCh37: 14:68195962-68195963
GRCh38: 14:67729245-67729246
42 GPHN, RDH12 NM_152443.3(RDH12):c.446T>C (p.Leu149Pro) SNV Pathogenic
866614 rs747257567 GRCh37: 14:68192870-68192870
GRCh38: 14:67726153-67726153
43 GPHN, RDH12 NM_152443.3(RDH12):c.184C>T (p.Arg62Ter) SNV Pathogenic
2050 rs104894471 GRCh37: 14:68191305-68191305
GRCh38: 14:67724588-67724588
44 GPHN, RDH12 NM_152443.3(RDH12):c.379G>T (p.Gly127Ter) SNV Pathogenic
2051 rs104894474 GRCh37: 14:68192803-68192803
GRCh38: 14:67726086-67726086
45 GPHN, RDH12 NM_152443.3(RDH12):c.451C>G (p.His151Asp) SNV Pathogenic
2054 rs104894475 GRCh37: 14:68193700-68193700
GRCh38: 14:67726983-67726983
46 GPHN, RDH12 NM_152443.3(RDH12):c.464C>T (p.Thr155Ile) SNV Pathogenic
2059 rs121434337 GRCh37: 14:68193713-68193713
GRCh38: 14:67726996-67726996
47 GPHN, RDH12, ZFYVE26 NM_152443.3(RDH12):c.784del (p.Ala262fs) DEL Pathogenic
1458632 GRCh37: 14:68196029-68196029
GRCh38: 14:67729312-67729312
48 GPHN, RDH12 NM_152443.3(RDH12):c.316C>T (p.Arg106Ter) SNV Pathogenic
835782 rs752242512 GRCh37: 14:68191944-68191944
GRCh38: 14:67725227-67725227
49 GPHN, RDH12, ZFYVE26 NM_152443.3(RDH12):c.806_810del (p.Ala269fs) DEL Pathogenic
2047 rs386834261 GRCh37: 14:68196054-68196058
GRCh38: 14:67729337-67729341
50 GPHN, RDH12 NM_152443.3(RDH12):c.146C>T (p.Thr49Met) SNV Pathogenic
2049 rs28940314 GRCh37: 14:68191267-68191267
GRCh38: 14:67724550-67724550

UniProtKB/Swiss-Prot genetic disease variations for Leber Congenital Amaurosis 13:

73
# Symbol AA change Variation ID SNP ID
1 RDH12 p.Thr49Met VAR_020858 rs28940314
2 RDH12 p.Ile51Asn VAR_020859 rs104894473
3 RDH12 p.Leu99Ile VAR_020860 rs28940315
4 RDH12 p.His151Asp VAR_020861 rs104894475
5 RDH12 p.His151Asn VAR_020862 rs104894475
6 RDH12 p.Ser175Pro VAR_020863 rs104894472
7 RDH12 p.Tyr226Cys VAR_020864 rs28940313
8 RDH12 p.Pro230Ala VAR_020865 rs104894476
9 RDH12 p.Gly76Arg VAR_064166 rs368489658
10 RDH12 p.Ala126Val VAR_064169 rs202126574

Expression for Leber Congenital Amaurosis 13

Search GEO for disease gene expression data for Leber Congenital Amaurosis 13.

Pathways for Leber Congenital Amaurosis 13

Pathways related to Leber Congenital Amaurosis 13 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.37 RPE65 RDH8 RDH12 RDH11 LRAT
2 11.96 SPATA7 LCA5 IQCB1
3 11.7 TULP1 SPATA7 RPGRIP1 LCA5 IQCB1
4
Show member pathways
11.39 RPE65 RDH8 RDH12 RDH11 LRAT
5 11.25 RPE65 RDH8 RDH12 LRAT
6 11.07 RPE65 RDH8 RDH14 RDH12 RDH11 LRAT
7
Show member pathways
11.01 RPE65 RDH14 RDH12 RDH11 LRAT
8 10.94 RPE65 RDH12 LRAT
9 10.8 RPE65 RDH12 LRAT

GO Terms for Leber Congenital Amaurosis 13

Cellular components related to Leber Congenital Amaurosis 13 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axoneme GO:0005930 9.8 SPATA7 RPGRIP1 LCA5
2 photoreceptor outer segment GO:0001750 9.65 TULP1 SPATA7 IQCB1
3 photoreceptor inner segment GO:0001917 9.56 TULP1 RDH12 RDH11 AIPL1
4 photoreceptor distal connecting cilium GO:0120206 9.46 SPATA7 RPGRIP1
5 photoreceptor connecting cilium GO:0032391 9.23 SPATA7 RPGRIP1 LCA5 IQCB1

Biological processes related to Leber Congenital Amaurosis 13 according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 10 AIPL1 LRAT RDH12 RDH8 RPE65 RPGRIP1
2 retinoid metabolic process GO:0001523 9.92 RPE65 RDH12 RDH11 LRAT
3 retina homeostasis GO:0001895 9.88 TULP1 RPE65 AIPL1
4 lipid metabolic process GO:0006629 9.85 RPE65 RDH8 RDH14 RDH12 RDH11 LRAT
5 photoreceptor cell maintenance GO:0045494 9.85 TULP1 SPATA7 RDH12 LCA5 IQCB1
6 detection of light stimulus involved in visual perception GO:0050908 9.84 TULP1 RPE65
7 retinal metabolic process GO:0042574 9.83 RPE65 RDH11
8 retina development in camera-type eye GO:0060041 9.8 TULP1 RPGRIP1 RPE65
9 protein localization to photoreceptor outer segment GO:1903546 9.78 TULP1 SPATA7
10 vitamin A metabolic process GO:0006776 9.76 RPE65 LRAT
11 cellular detoxification of aldehyde GO:0110095 9.73 RDH11 RDH12
12 retinol metabolic process GO:0042572 9.73 LRAT RDH11 RDH12 RDH14 RDH8 RPE65
13 eye photoreceptor cell development GO:0042462 9.69 TULP1 RPGRIP1
14 visual perception GO:0007601 9.58 TULP1 SPATA7 RPGRIP1 RPE65 RDH8 RDH12

Molecular functions related to Leber Congenital Amaurosis 13 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.73 RDH8 RDH14 RDH12 RDH11 IMPDH1
2 NAD-retinol dehydrogenase activity GO:0004745 9.63 RDH8 RDH12 RDH11
3 11-cis-retinol dehydrogenase activity GO:0102354 9.43 RDH14 RDH12 RDH11
4 NADP-retinol dehydrogenase activity GO:0052650 9.23 RDH8 RDH14 RDH12 RDH11

Sources for Leber Congenital Amaurosis 13

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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