LCA13
MCID: LBR008
MIFTS: 24

Leber Congenital Amaurosis 13 (LCA13)

Categories: Eye diseases, Genetic diseases, Metabolic 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 58 12 54 76 30 13 6 15 74
Lca13 58 12 54 76
Retinitis Pigmentosa 53 76 6 74
Leber Congenital Amaurosis, Type 13 ) 41
Rp53 76

Characteristics:

OMIM:

58
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:

33
leber congenital amaurosis 13:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110330
OMIM 58 612712
ICD10 34 H35.5
SNOMED-CT via HPO 70 258211005 314407005

Summaries for Leber Congenital Amaurosis 13

UniProtKB/Swiss-Prot : 76 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 leber congenital amaurosis and retinitis pigmentosa. An important gene associated with Leber Congenital Amaurosis 13 is RDH12 (Retinol Dehydrogenase 12). Affiliated tissues include retina, bone and eye, and related phenotypes are retinal dystrophy and cellular

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.

Description from OMIM: 612712

Related Diseases for Leber Congenital Amaurosis 13

Symptoms & Phenotypes for Leber Congenital Amaurosis 13

Human phenotypes related to Leber Congenital Amaurosis 13:

33
# Description HPO Frequency HPO Source Accession
1 retinal dystrophy 33 HP:0000556

Symptoms via clinical synopsis from OMIM:

58
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

MGI Mouse Phenotypes related to Leber Congenital Amaurosis 13:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 8.92 GPHN PTH RDH12 ZFYVE26

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 30 RDH12

Anatomical Context for Leber Congenital Amaurosis 13

MalaCards organs/tissues related to Leber Congenital Amaurosis 13:

42
Retina, Bone, Eye

Publications for Leber Congenital Amaurosis 13

Variations for Leber Congenital Amaurosis 13

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

76
# 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

ClinVar genetic disease variations for Leber Congenital Amaurosis 13:

6 (show all 39)
# Gene Variation Type Significance SNP ID Assembly Location
1 RDH12 NM_152443.2(RDH12): c.210dupC (p.Arg71Glnfs) duplication Pathogenic rs797044761 GRCh37 Chromosome 14, 68191838: 68191838
2 RDH12 NM_152443.2(RDH12): c.210dupC (p.Arg71Glnfs) duplication Pathogenic rs797044761 GRCh38 Chromosome 14, 67725121: 67725121
3 RDH12 NM_152443.2(RDH12): c.63_66delCATC (p.Ile22Glyfs) deletion Likely pathogenic rs794729650 GRCh37 Chromosome 14, 68189422: 68189425
4 RDH12 NM_152443.2(RDH12): c.63_66delCATC (p.Ile22Glyfs) deletion Likely pathogenic rs794729650 GRCh38 Chromosome 14, 67722705: 67722708
5 RDH12 NM_152443.2(RDH12): c.658+1G> A single nucleotide variant Pathogenic rs387906272 GRCh38 Chromosome 14, 67727191: 67727191
6 RDH12 NM_152443.2(RDH12): c.677A> G (p.Tyr226Cys) single nucleotide variant Pathogenic rs28940313 GRCh37 Chromosome 14, 68195926: 68195926
7 RDH12 NM_152443.2(RDH12): c.677A> G (p.Tyr226Cys) single nucleotide variant Pathogenic rs28940313 GRCh38 Chromosome 14, 67729209: 67729209
8 RDH12 NM_152443.2(RDH12): c.806_810delCCCTG (p.Ala269Glyfs) deletion Pathogenic rs386834261 GRCh37 Chromosome 14, 68196055: 68196059
9 RDH12 NM_152443.2(RDH12): c.806_810delCCCTG (p.Ala269Glyfs) deletion Pathogenic rs386834261 GRCh38 Chromosome 14, 67729338: 67729342
10 RDH12 NM_152443.2(RDH12): c.565C> T (p.Gln189Ter) single nucleotide variant Pathogenic rs104894470 GRCh37 Chromosome 14, 68193814: 68193814
11 RDH12 NM_152443.2(RDH12): c.565C> T (p.Gln189Ter) single nucleotide variant Pathogenic rs104894470 GRCh38 Chromosome 14, 67727097: 67727097
12 RDH12 NM_152443.2(RDH12): c.146C> T (p.Thr49Met) single nucleotide variant Pathogenic rs28940314 GRCh37 Chromosome 14, 68191267: 68191267
13 RDH12 NM_152443.2(RDH12): c.146C> T (p.Thr49Met) single nucleotide variant Pathogenic rs28940314 GRCh38 Chromosome 14, 67724550: 67724550
14 RDH12 NM_152443.2(RDH12): c.184C> T (p.Arg62Ter) single nucleotide variant Pathogenic rs104894471 GRCh37 Chromosome 14, 68191305: 68191305
15 RDH12 NM_152443.2(RDH12): c.184C> T (p.Arg62Ter) single nucleotide variant Pathogenic rs104894471 GRCh38 Chromosome 14, 67724588: 67724588
16 RDH12 NM_152443.2(RDH12): c.379G> T (p.Gly127Ter) single nucleotide variant Pathogenic rs104894474 GRCh37 Chromosome 14, 68192803: 68192803
17 RDH12 NM_152443.2(RDH12): c.379G> T (p.Gly127Ter) single nucleotide variant Pathogenic rs104894474 GRCh38 Chromosome 14, 67726086: 67726086
18 RDH12 NM_152443.2(RDH12): c.451C> A (p.His151Asn) single nucleotide variant Pathogenic rs104894475 GRCh37 Chromosome 14, 68193700: 68193700
19 RDH12 NM_152443.2(RDH12): c.451C> A (p.His151Asn) single nucleotide variant Pathogenic rs104894475 GRCh38 Chromosome 14, 67726983: 67726983
20 RDH12 NM_152443.2(RDH12): c.688C> G (p.Pro230Ala) single nucleotide variant Pathogenic rs104894476 GRCh37 Chromosome 14, 68195937: 68195937
21 RDH12 NM_152443.2(RDH12): c.688C> G (p.Pro230Ala) single nucleotide variant Pathogenic rs104894476 GRCh38 Chromosome 14, 67729220: 67729220
22 RDH12 NM_152443.2(RDH12): c.451C> G (p.His151Asp) single nucleotide variant Pathogenic rs104894475 GRCh37 Chromosome 14, 68193700: 68193700
23 RDH12 NM_152443.2(RDH12): c.451C> G (p.His151Asp) single nucleotide variant Pathogenic rs104894475 GRCh38 Chromosome 14, 67726983: 67726983
24 RDH12 NM_152443.2(RDH12): c.295C> A (p.Leu99Ile) single nucleotide variant Pathogenic rs28940315 GRCh37 Chromosome 14, 68191923: 68191923
25 RDH12 NM_152443.2(RDH12): c.295C> A (p.Leu99Ile) single nucleotide variant Pathogenic rs28940315 GRCh38 Chromosome 14, 67725206: 67725206
26 RDH12 NM_152443.2(RDH12): c.523T> C (p.Ser175Pro) single nucleotide variant Pathogenic rs104894472 GRCh37 Chromosome 14, 68193772: 68193772
27 RDH12 NM_152443.2(RDH12): c.523T> C (p.Ser175Pro) single nucleotide variant Pathogenic rs104894472 GRCh38 Chromosome 14, 67727055: 67727055
28 RDH12 NM_152443.2(RDH12): c.152T> A (p.Ile51Asn) single nucleotide variant Pathogenic rs104894473 GRCh37 Chromosome 14, 68191273: 68191273
29 RDH12 NM_152443.2(RDH12): c.152T> A (p.Ile51Asn) single nucleotide variant Pathogenic rs104894473 GRCh38 Chromosome 14, 67724556: 67724556
30 RDH12 NM_152443.2(RDH12): c.658+1G> A single nucleotide variant Pathogenic rs387906272 GRCh37 Chromosome 14, 68193908: 68193908
31 RDH12 NM_152443.2(RDH12): c.464C> T (p.Thr155Ile) single nucleotide variant Pathogenic rs121434337 GRCh37 Chromosome 14, 68193713: 68193713
32 RDH12 NM_152443.2(RDH12): c.464C> T (p.Thr155Ile) single nucleotide variant Pathogenic rs121434337 GRCh38 Chromosome 14, 67726996: 67726996
33 RDH12 RDH12, 1-BP DEL, 776G deletion Pathogenic
34 RDH12 NM_152443.2(RDH12): c.377C> T (p.Ala126Val) single nucleotide variant Pathogenic rs202126574 GRCh37 Chromosome 14, 68192801: 68192801
35 RDH12 NM_152443.2(RDH12): c.377C> T (p.Ala126Val) single nucleotide variant Pathogenic rs202126574 GRCh38 Chromosome 14, 67726084: 67726084
36 RDH12 NM_152443.2(RDH12): c.716G> T (p.Arg239Leu) single nucleotide variant Likely pathogenic rs1239043055 GRCh37 Chromosome 14, 68195965: 68195965
37 RDH12 NM_152443.2(RDH12): c.716G> T (p.Arg239Leu) single nucleotide variant Likely pathogenic rs1239043055 GRCh38 Chromosome 14, 67729248: 67729248
38 RDH12 NM_152443.2(RDH12): c.506G> A (p.Arg169Gln) single nucleotide variant Likely pathogenic GRCh38 Chromosome 14, 67727038: 67727038
39 RDH12 NM_152443.2(RDH12): c.506G> A (p.Arg169Gln) single nucleotide variant Likely pathogenic GRCh37 Chromosome 14, 68193755: 68193755

Expression for Leber Congenital Amaurosis 13

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

Pathways for Leber Congenital Amaurosis 13

GO Terms for Leber Congenital Amaurosis 13

Sources for Leber Congenital Amaurosis 13

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