LCA13
MCID: LBR008
MIFTS: 41

Leber Congenital Amaurosis 13 (LCA13)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Leber Congenital Amaurosis 13

MalaCards integrated aliases for Leber Congenital Amaurosis 13:

Name: Leber Congenital Amaurosis 13 57 12 20 72 29 13 6 15 70
Lca13 57 12 20 72
Retinitis Pigmentosa 53 72 6 70
Leber Congenital Amaurosis, Type 13 39
Rp53 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive
autosomal dominant (in one rp53 family)

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


HPO:

31
leber congenital amaurosis 13:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110330
OMIM® 57 612712
OMIM Phenotypic Series 57 PS204000 PS268000
ICD10 32 H35.5
SNOMED-CT via HPO 68 258211005 263681008 314407005
UMLS 70 C2675186 C3150208

Summaries for Leber Congenital Amaurosis 13

UniProtKB/Swiss-Prot : 72 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 lca13, is related to severe early-childhood-onset retinal dystrophy and pigmented paravenous chorioretinal atrophy. An important gene associated with Leber Congenital Amaurosis 13 is RDH12 (Retinol Dehydrogenase 12), and among its related pathways/superpathways is the visual cycle I (vertebrates). Affiliated tissues include eye, retina and bone, and related phenotypes are retinal dystrophy and nervous system

Disease Ontology : 12 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 PS204000 PS268000

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 72)
# Related Disease Score Top Affiliating Genes
1 severe early-childhood-onset retinal dystrophy 10.2 SPATA7 LCA5
2 pigmented paravenous chorioretinal atrophy 10.2 RDH12 AIPL1
3 cone-rod dystrophy 8 10.2 LCA5 AIPL1
4 leber congenital amaurosis / early-onset severe retinal dystrophy 10.1 CEP290 AIPL1
5 simpson-golabi-behmel syndrome, type 2 10.1 LCA5 CEP290
6 microphthalmia, syndromic 9 10.1 RDH12 RDH11
7 retinal aplasia 10.1 IQCB1 CEP290
8 yemenite deaf-blind hypopigmentation syndrome 10.1 CEP290 AIPL1
9 nephronophthisis 7 10.1 IQCB1 CEP290
10 nephronophthisis 11 10.1 IQCB1 CEP290
11 choroidal dystrophy, central areolar, 1 10.0 SPATA7 AIPL1
12 nephronophthisis 16 10.0 IQCB1 CEP290
13 nephronophthisis 14 10.0 IQCB1 CEP290
14 nephronophthisis 19 10.0 IQCB1 CEP290
15 nephronophthisis 12 10.0 IQCB1 CEP290
16 renal-hepatic-pancreatic dysplasia 10.0 IQCB1 CEP290
17 retinitis pigmentosa 3 10.0 RPGRIP1 IQCB1
18 nephronophthisis 9 10.0 IQCB1 CEP290
19 retinitis pigmentosa 34 10.0 RPGRIP1 IQCB1
20 joubert syndrome 5 10.0 IQCB1 CEP290
21 meckel syndrome, type 4 10.0 IQCB1 CEP290
22 joubert syndrome 4 10.0 IQCB1 CEP290
23 alstrom syndrome 10.0 IQCB1 CEP290
24 laurence-moon syndrome 10.0 RPGRIP1 RDH11
25 pseudopapilledema 10.0 RDH12 CEP290 AIPL1
26 bardet-biedl syndrome 14 9.9 IQCB1 CEP290
27 joubert syndrome 7 9.9 RPGRIP1 CEP290
28 color blindness 9.9 RPGRIP1 AIPL1
29 joubert syndrome 3 9.9 SPATA7 IQCB1 CEP290
30 fundus albipunctatus 9.9 TULP1 RDH12 RDH11
31 meckel syndrome, type 6 9.9 IQCB1 CEP290
32 leber congenital amaurosis 11 9.9 SPATA7 RDH12 LCA5 AIPL1
33 leber congenital amaurosis 7 9.9 SPATA7 RDH12 LCA5 AIPL1
34 cone-rod dystrophy 13 9.9 SPATA7 RPGRIP1 IQCB1
35 nephronophthisis 2 9.9 IQCB1 CEP290
36 usher syndrome type 2 9.8 TULP1 LCA5 CEP290
37 usher syndrome, type iiia 9.8 TULP1 RDH12 LCA5 AIPL1
38 coach syndrome 1 9.7 IQCB1 CEP290
39 leber congenital amaurosis 8 9.6 TULP1 SPATA7 RDH12 LCA5 AIPL1
40 retinal ciliopathy 9.6 SPATA7 RPGRIP1 IQCB1 CEP290
41 meckel syndrome, type 1 9.5 RPGRIP1 IQCB1 CEP290
42 eye degenerative disease 9.5 TULP1 RDH12 IQCB1 CEP290 AIPL1
43 leber congenital amaurosis 12 9.5 SPATA7 RDH12 LCA5 KCNJ13 AIPL1
44 leber congenital amaurosis 16 9.5 SPATA7 RDH12 LCA5 KCNJ13 AIPL1
45 eye disease 9.4 ZFYVE26 RPGRIP1 RDH12 IQCB1 CEP290
46 nephronophthisis 9.4 SPATA7 RPGRIP1 LCA5 IQCB1 CEP290
47 leber congenital amaurosis 9 9.3 TULP1 SPATA7 RDH12 LCA5 CEP290 AIPL1
48 retinal disease 9.3 TULP1 RPGRIP1 RDH12 CEP290 AIPL1
49 leber congenital amaurosis 5 9.3 TULP1 SPATA7 RPGRIP1 RDH12 LCA5 AIPL1
50 leber congenital amaurosis 14 9.2 SPATA7 RDH12 LCA5 KCNJ13 IQCB1 AIPL1

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:

31
# Description HPO Frequency HPO Source Accession
1 retinal dystrophy 31 HP:0000556

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 20-May-2021)

MGI Mouse Phenotypes related to Leber Congenital Amaurosis 13:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.56 AIPL1 CEP290 LCA5 RDH12 RPGRIP1 SPATA7
2 vision/eye MP:0005391 9.28 AIPL1 CEP290 LCA5 RDH11 RDH12 RPGRIP1

Drugs & Therapeutics for Leber Congenital Amaurosis 13

Search Clinical Trials , NIH Clinical Center for 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 29 RDH12

Anatomical Context for Leber Congenital Amaurosis 13

MalaCards organs/tissues related to Leber Congenital Amaurosis 13:

40
Eye, Retina, Bone

Publications for Leber Congenital Amaurosis 13

Articles related to Leber Congenital Amaurosis 13:

(show all 42)
# Title Authors PMID Year
1
Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mapping. 6 57
19140180 2009
2
Association of a novel mutation in the retinol dehydrogenase 12 (RDH12) gene with autosomal dominant retinitis pigmentosa. 57 6
18779497 2008
3
RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expression. 6 57
17197551 2007
4
Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle. 6 57
16269441 2005
5
Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. 6 57
15322982 2004
6
Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. 57 6
15258582 2004
7
Expanding the phenotypic spectrum in RDH12-associated retinal disease. 6
32014858 2020
8
PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY. 6
30134391 2019
9
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 6
30718709 2019
10
RDH12 Mutations Cause a Severe Retinal Degeneration With Relatively Spared Rod Function. 6
30372751 2018
11
Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy. 6
29186038 2017
12
The genetic profile of Leber congenital amaurosis in an Australian cohort. 6
29178642 2017
13
Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease. 6
28559085 2017
14
Phenotype-genotype correlation with Sanger sequencing identified retinol dehydrogenase 12 (RDH12) compound heterozygous variants in a Chinese family with Leber congenital amaurosis. 6
28471114 2017
15
Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families. 6
28418496 2017
16
Unravelling the genetic basis of simplex Retinitis Pigmentosa cases. 6
28157192 2017
17
Molecular findings from 537 individuals with inherited retinal disease. 6
27208204 2016
18
Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies. 6
26355662 2016
19
Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel. 6
27032803 2016
20
Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa. 6
26497376 2015
21
Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies. 6
26306921 2015
22
Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort. 6
26047050 2015
23
BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies. 6
25561519 2015
24
Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa. 6
26124963 2015
25
Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy. 6
24625443 2014
26
Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping. 6
24474277 2014
27
Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing. 6
25133751 2014
28
Exome sequencing identifies RDH12 compound heterozygous mutations in a family with severe retinitis pigmentosa. 6
23900199 2013
29
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. 6
23847139 2013
30
Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa. 6
23661369 2013
31
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. 6
23105016 2013
32
RDH12 retinopathy: novel mutations and phenotypic description. 6
22065924 2011
33
Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes. 6
20683928 2010
34
Novel RDH12 sequence variations in Leber congenital amaurosis. 6
20736127 2010
35
Disease-associated variants of microsomal retinol dehydrogenase 12 (RDH12) are degraded at mutant-specific rates. 6
20006610 2010
36
Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture. 6
17964524 2007
37
The phenotype of early-onset retinal degeneration in persons with RDH12 mutations. 6
17389517 2007
38
A novel locus for Leber congenital amaurosis on chromosome 14q24. 57
9799089 1998
39
Report from a Workshop on Accelerating the Development of Treatments for Inherited Retinal Dystrophies Associated with Mutations in the RDH12 Gene. 61
32855876 2020
40
Development of a Gene Therapy Vector for RDH12-Associated Retinal Dystrophy. 61
31237438 2019
41
Structural Insights into the Drosophila melanogaster Retinol Dehydrogenase, a Member of the Short-Chain Dehydrogenase/Reductase Family. 61
27809489 2016
42
Leber Congenital Amaurosis – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY 61
20301475 2004

Variations for Leber Congenital Amaurosis 13

ClinVar genetic disease variations for Leber Congenital Amaurosis 13:

6 (show top 50) (show all 126)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RDH12 NM_152443.3(RDH12):c.152T>A (p.Ile51Asn) SNV Pathogenic 2057 rs104894473 GRCh37: 14:68191273-68191273
GRCh38: 14:67724556-67724556
2 RDH12 NM_152443.3(RDH12):c.658+1G>A SNV Pathogenic 2058 rs387906272 GRCh37: 14:68193908-68193908
GRCh38: 14:67727191-67727191
3 RDH12 NM_152443.3(RDH12):c.464C>T (p.Thr155Ile) SNV Pathogenic 2059 rs121434337 GRCh37: 14:68193713-68193713
GRCh38: 14:67726996-67726996
4 RDH12 NM_152443.3(RDH12):c.377C>T (p.Ala126Val) SNV Pathogenic 2061 rs202126574 GRCh37: 14:68192801-68192801
GRCh38: 14:67726084-67726084
5 RDH12 NM_152443.3(RDH12):c.59_62CATC[1] (p.Ile22fs) Microsatellite Pathogenic 203385 rs794729650 GRCh37: 14:68189416-68189419
GRCh38: 14:67722699-67722702
6 RDH12 NM_152443.3(RDH12):c.609C>A (p.Ser203Arg) SNV Pathogenic 663830 rs753959716 GRCh37: 14:68193858-68193858
GRCh38: 14:67727141-67727141
7 RDH12 NM_152443.3(RDH12):c.316C>T (p.Arg106Ter) SNV Pathogenic 835782 GRCh37: 14:68191944-68191944
GRCh38: 14:67725227-67725227
8 RDH12 , ZFYVE26 NM_152443.3(RDH12):c.680_683del (p.Ala227fs) Deletion Pathogenic 836859 GRCh37: 14:68195929-68195932
GRCh38: 14:67729212-67729215
9 RDH12 NM_152443.3(RDH12):c.437T>A (p.Val146Asp) SNV Pathogenic 841398 GRCh37: 14:68192861-68192861
GRCh38: 14:67726144-67726144
10 RDH12 NM_152443.3(RDH12):c.139G>A (p.Ala47Thr) SNV Pathogenic 852972 GRCh37: 14:68191260-68191260
GRCh38: 14:67724543-67724543
11 RDH12 NM_152443.3(RDH12):c.250C>T (p.Arg84Ter) SNV Pathogenic 488802 rs1349849938 GRCh37: 14:68191878-68191878
GRCh38: 14:67725161-67725161
12 RDH12 , ZFYVE26 NM_152443.3(RDH12):c.778del (p.Glu260fs) Deletion Pathogenic 143163 rs527236099 GRCh37: 14:68196025-68196025
GRCh38: 14:67729308-67729308
13 RDH12 NM_152443.3(RDH12):c.210dup (p.Arg71fs) Duplication Pathogenic 197878 rs797044761 GRCh37: 14:68191837-68191838
GRCh38: 14:67725120-67725121
14 RDH12 NM_152443.3(RDH12):c.582C>G (p.Tyr194Ter) SNV Pathogenic 934121 GRCh37: 14:68193831-68193831
GRCh38: 14:67727114-67727114
15 RDH12 NM_152443.3(RDH12):c.535C>G (p.His179Asp) SNV Pathogenic 935496 GRCh37: 14:68193784-68193784
GRCh38: 14:67727067-67727067
16 RDH12 , ZFYVE26 NM_152443.3(RDH12):c.869dup (p.Ser291fs) Duplication Pathogenic 936624 GRCh37: 14:68200482-68200483
GRCh38: 14:67733765-67733766
17 RDH12 , ZFYVE26 NM_152443.3(RDH12):c.848+2T>C SNV Pathogenic 236431 rs878853338 GRCh37: 14:68196099-68196099
GRCh38: 14:67729382-67729382
18 RDH12 NM_152443.3(RDH12):c.377C>T (p.Ala126Val) SNV Pathogenic 2061 rs202126574 GRCh37: 14:68192801-68192801
GRCh38: 14:67726084-67726084
19 RDH12 NM_152443.3(RDH12):c.446T>C (p.Leu149Pro) SNV Pathogenic 866614 GRCh37: 14:68192870-68192870
GRCh38: 14:67726153-67726153
20 RDH12 NM_152443.3(RDH12):c.488del (p.Lys163fs) Deletion Pathogenic 970561 GRCh37: 14:68193735-68193735
GRCh38: 14:67727018-67727018
21 RDH12 NM_152443.3(RDH12):c.429_432delinsGGT (p.His143fs) Indel Pathogenic 977808 GRCh37: 14:68192853-68192856
GRCh38: 14:67726136-67726139
22 RDH12 NM_152443.3(RDH12):c.448+1G>A SNV Pathogenic 977809 GRCh37: 14:68192873-68192873
GRCh38: 14:67726156-67726156
23 RDH12 , ZFYVE26 NM_152443.3(RDH12):c.759dup (p.Phe254fs) Duplication Pathogenic 977814 GRCh37: 14:68196003-68196004
GRCh38: 14:67729286-67729287
24 RDH12 , ZFYVE26 NM_152443.3(RDH12):c.659-2A>T SNV Pathogenic 977810 GRCh37: 14:68195906-68195906
GRCh38: 14:67729189-67729189
25 RDH12 NM_152443.3(RDH12):c.38C>A (p.Ser13Ter) SNV Pathogenic 977812 GRCh37: 14:68189397-68189397
GRCh38: 14:67722680-67722680
26 RDH12 NM_152443.3(RDH12):c.184C>T (p.Arg62Ter) SNV Pathogenic 2050 rs104894471 GRCh37: 14:68191305-68191305
GRCh38: 14:67724588-67724588
27 RDH12 NM_152443.3(RDH12):c.505C>T (p.Arg169Trp) SNV Pathogenic 866945 GRCh37: 14:68193754-68193754
GRCh38: 14:67727037-67727037
28 RDH12 NM_152443.3(RDH12):c.523T>C (p.Ser175Pro) SNV Pathogenic 2056 rs104894472 GRCh37: 14:68193772-68193772
GRCh38: 14:67727055-67727055
29 RDH12 NM_152443.3(RDH12):c.295C>A (p.Leu99Ile) SNV Pathogenic 2055 rs28940315 GRCh37: 14:68191923-68191923
GRCh38: 14:67725206-67725206
30 RDH12 NM_152443.3(RDH12):c.451C>G (p.His151Asp) SNV Pathogenic 2054 rs104894475 GRCh37: 14:68193700-68193700
GRCh38: 14:67726983-67726983
31 RDH12 , ZFYVE26 NM_152443.3(RDH12):c.688C>G (p.Pro230Ala) SNV Pathogenic 2053 rs104894476 GRCh37: 14:68195937-68195937
GRCh38: 14:67729220-67729220
32 RDH12 NM_152443.3(RDH12):c.451C>A (p.His151Asn) SNV Pathogenic 2052 rs104894475 GRCh37: 14:68193700-68193700
GRCh38: 14:67726983-67726983
33 RDH12 NM_152443.3(RDH12):c.379G>T (p.Gly127Ter) SNV Pathogenic 2051 rs104894474 GRCh37: 14:68192803-68192803
GRCh38: 14:67726086-67726086
34 RDH12 NM_152443.3(RDH12):c.146C>T (p.Thr49Met) SNV Pathogenic 2049 rs28940314 GRCh37: 14:68191267-68191267
GRCh38: 14:67724550-67724550
35 RDH12 NM_152443.3(RDH12):c.565C>T (p.Gln189Ter) SNV Pathogenic 2048 rs104894470 GRCh37: 14:68193814-68193814
GRCh38: 14:67727097-67727097
36 RDH12 , ZFYVE26 NM_152443.3(RDH12):c.806_810del (p.Ala269fs) Deletion Pathogenic 2047 rs386834261 GRCh37: 14:68196054-68196058
GRCh38: 14:67729337-67729341
37 RDH12 , ZFYVE26 NM_152443.3(RDH12):c.784dup (p.Ala262fs) Duplication Pathogenic 648633 rs1594867551 GRCh37: 14:68196028-68196029
GRCh38: 14:67729311-67729312
38 RDH12 RDH12, 1-BP DEL, 776G Deletion Pathogenic 2060 GRCh37:
GRCh38:
39 RDH12 NM_152443.3(RDH12):c.506G>A (p.Arg169Gln) SNV Pathogenic/Likely pathogenic 623219 rs971610277 GRCh37: 14:68193755-68193755
GRCh38: 14:67727038-67727038
40 RDH12 , ZFYVE26 NM_152443.3(RDH12):c.677A>G (p.Tyr226Cys) SNV Pathogenic/Likely pathogenic 2046 rs28940313 GRCh37: 14:68195926-68195926
GRCh38: 14:67729209-67729209
41 RDH12 NM_152443.3(RDH12):c.524C>T (p.Ser175Leu) SNV Pathogenic/Likely pathogenic 559527 rs116733939 GRCh37: 14:68193773-68193773
GRCh38: 14:67727056-67727056
42 RDH12 , ZFYVE26 NM_152443.3(RDH12):c.883C>T (p.Arg295Ter) SNV Pathogenic/Likely pathogenic 655601 rs200387832 GRCh37: 14:68200497-68200497
GRCh38: 14:67733780-67733780
43 RDH12 NM_152443.3(RDH12):c.157_187+178del Deletion Likely pathogenic 662998 rs1594865068 GRCh37: 14:68191277-68191485
GRCh38: 14:67724560-67724768
44 RDH12 NM_152443.3(RDH12):c.125T>C (p.Val42Ala) SNV Likely pathogenic 803033 rs1594865036 GRCh37: 14:68191246-68191246
GRCh38: 14:67724529-67724529
45 RDH12 NM_152443.3(RDH12):c.178G>C (p.Ala60Pro) SNV Likely pathogenic 803034 rs749038454 GRCh37: 14:68191299-68191299
GRCh38: 14:67724582-67724582
46 RDH12 NM_152443.3(RDH12):c.325G>C (p.Ala109Pro) SNV Likely pathogenic 803035 rs1594865434 GRCh37: 14:68191953-68191953
GRCh38: 14:67725236-67725236
47 RDH12 NM_152443.3(RDH12):c.448+1G>C SNV Likely pathogenic 841661 GRCh37: 14:68192873-68192873
GRCh38: 14:67726156-67726156
48 RDH12 , ZFYVE26 NM_152443.3(RDH12):c.912G>A (p.Trp304Ter) SNV Likely pathogenic 839977 GRCh37: 14:68200526-68200526
GRCh38: 14:67733809-67733809
49 RDH12 , ZFYVE26 NM_152443.3(RDH12):c.716G>T (p.Arg239Leu) SNV Likely pathogenic 536988 rs1239043055 GRCh37: 14:68195965-68195965
GRCh38: 14:67729248-67729248
50 RDH12 NM_152443.3(RDH12):c.481C>T (p.Arg161Trp) SNV Likely pathogenic 643541 rs759408031 GRCh37: 14:68193730-68193730
GRCh38: 14:67727013-67727013

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

72
# 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
10.36 RDH12 RDH11

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 cytoskeleton GO:0005856 9.88 ZFYVE26 SPATA7 LCA5 IQCB1 CEP290
2 cell projection GO:0042995 9.83 TULP1 SPATA7 RPGRIP1 LCA5 CEP290
3 microtubule organizing center GO:0005815 9.67 ZFYVE26 LCA5 IQCB1 CEP290
4 ciliary basal body GO:0036064 9.58 SPATA7 LCA5 CEP290
5 axoneme GO:0005930 9.5 SPATA7 RPGRIP1 LCA5
6 ciliary transition zone GO:0035869 9.46 RPGRIP1 CEP290
7 photoreceptor outer segment GO:0001750 9.43 TULP1 SPATA7 IQCB1
8 cilium GO:0005929 9.35 TULP1 RPGRIP1 LCA5 IQCB1 CEP290
9 photoreceptor inner segment GO:0001917 9.33 TULP1 RDH12 AIPL1
10 photoreceptor connecting cilium GO:0032391 9.02 SPATA7 RPGRIP1 LCA5 IQCB1 CEP290

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

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.65 TULP1 SPATA7 RPGRIP1 RDH12 AIPL1
2 retinol metabolic process GO:0042572 9.43 RDH12 RDH11
3 retina homeostasis GO:0001895 9.4 TULP1 AIPL1
4 protein localization to photoreceptor outer segment GO:1903546 9.37 TULP1 SPATA7
5 visual perception GO:0007601 9.35 TULP1 SPATA7 RPGRIP1 RDH12 AIPL1
6 eye photoreceptor cell development GO:0042462 9.33 TULP1 RPGRIP1 CEP290
7 cellular detoxification of aldehyde GO:0110095 9.32 RDH12 RDH11
8 photoreceptor cell maintenance GO:0045494 9.02 TULP1 SPATA7 RDH12 LCA5 IQCB1

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

# Name GO ID Score Top Affiliating Genes
1 retinol dehydrogenase activity GO:0004745 8.96 RDH12 RDH11
2 NADP-retinol dehydrogenase activity GO:0052650 8.62 RDH12 RDH11

Sources for Leber Congenital Amaurosis 13

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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