MCID: LBR008
MIFTS: 24

Leber Congenital Amaurosis 13

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

Aliases & Classifications for Leber Congenital Amaurosis 13

MalaCards integrated aliases for Leber Congenital Amaurosis 13:

Name: Leber Congenital Amaurosis 13 57 12 53 75 29 13 6 15 73
Lca13 57 12 53 75
Retinitis Pigmentosa 53 75 6 73
Leber Congenital Amaurosis, Type 13 ) 40
Rp53 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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:

32
leber congenital amaurosis 13:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 612712
Disease Ontology 12 DOID:0110330
ICD10 33 H35.5
SNOMED-CT via HPO 69 258211005 314407005

Summaries for Leber Congenital Amaurosis 13

UniProtKB/Swiss-Prot : 75 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.

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 phenotype is retinal dystrophy.

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

Symptoms via clinical synopsis from OMIM:

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


Clinical features from OMIM:

612712

Human phenotypes related to Leber Congenital Amaurosis 13:

32
# Description HPO Frequency HPO Source Accession
1 retinal dystrophy 32 HP:0000556

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:

41
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:

75
# 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 37)
# Gene Variation Type Significance SNP ID Assembly Location
1 RDH12 NM_152443.2(RDH12): c.677A> G (p.Tyr226Cys) single nucleotide variant Pathogenic rs28940313 GRCh37 Chromosome 14, 68195926: 68195926
2 RDH12 NM_152443.2(RDH12): c.677A> G (p.Tyr226Cys) single nucleotide variant Pathogenic rs28940313 GRCh38 Chromosome 14, 67729209: 67729209
3 RDH12 NM_152443.2(RDH12): c.806_810delCCCTG (p.Ala269Glyfs) deletion Pathogenic rs386834261 GRCh37 Chromosome 14, 68196055: 68196059
4 RDH12 NM_152443.2(RDH12): c.806_810delCCCTG (p.Ala269Glyfs) deletion Pathogenic rs386834261 GRCh38 Chromosome 14, 67729338: 67729342
5 RDH12 NM_152443.2(RDH12): c.565C> T (p.Gln189Ter) single nucleotide variant Pathogenic rs104894470 GRCh37 Chromosome 14, 68193814: 68193814
6 RDH12 NM_152443.2(RDH12): c.565C> T (p.Gln189Ter) single nucleotide variant Pathogenic rs104894470 GRCh38 Chromosome 14, 67727097: 67727097
7 RDH12 NM_152443.2(RDH12): c.146C> T (p.Thr49Met) single nucleotide variant Pathogenic rs28940314 GRCh37 Chromosome 14, 68191267: 68191267
8 RDH12 NM_152443.2(RDH12): c.146C> T (p.Thr49Met) single nucleotide variant Pathogenic rs28940314 GRCh38 Chromosome 14, 67724550: 67724550
9 RDH12 NM_152443.2(RDH12): c.184C> T (p.Arg62Ter) single nucleotide variant Pathogenic rs104894471 GRCh37 Chromosome 14, 68191305: 68191305
10 RDH12 NM_152443.2(RDH12): c.184C> T (p.Arg62Ter) single nucleotide variant Pathogenic rs104894471 GRCh38 Chromosome 14, 67724588: 67724588
11 RDH12 NM_152443.2(RDH12): c.379G> T (p.Gly127Ter) single nucleotide variant Pathogenic rs104894474 GRCh37 Chromosome 14, 68192803: 68192803
12 RDH12 NM_152443.2(RDH12): c.379G> T (p.Gly127Ter) single nucleotide variant Pathogenic rs104894474 GRCh38 Chromosome 14, 67726086: 67726086
13 RDH12 NM_152443.2(RDH12): c.451C> A (p.His151Asn) single nucleotide variant Pathogenic rs104894475 GRCh37 Chromosome 14, 68193700: 68193700
14 RDH12 NM_152443.2(RDH12): c.451C> A (p.His151Asn) single nucleotide variant Pathogenic rs104894475 GRCh38 Chromosome 14, 67726983: 67726983
15 RDH12 NM_152443.2(RDH12): c.688C> G (p.Pro230Ala) single nucleotide variant Pathogenic rs104894476 GRCh37 Chromosome 14, 68195937: 68195937
16 RDH12 NM_152443.2(RDH12): c.688C> G (p.Pro230Ala) single nucleotide variant Pathogenic rs104894476 GRCh38 Chromosome 14, 67729220: 67729220
17 RDH12 NM_152443.2(RDH12): c.451C> G (p.His151Asp) single nucleotide variant Pathogenic rs104894475 GRCh37 Chromosome 14, 68193700: 68193700
18 RDH12 NM_152443.2(RDH12): c.451C> G (p.His151Asp) single nucleotide variant Pathogenic rs104894475 GRCh38 Chromosome 14, 67726983: 67726983
19 RDH12 NM_152443.2(RDH12): c.295C> A (p.Leu99Ile) single nucleotide variant Pathogenic rs28940315 GRCh37 Chromosome 14, 68191923: 68191923
20 RDH12 NM_152443.2(RDH12): c.295C> A (p.Leu99Ile) single nucleotide variant Pathogenic rs28940315 GRCh38 Chromosome 14, 67725206: 67725206
21 RDH12 NM_152443.2(RDH12): c.523T> C (p.Ser175Pro) single nucleotide variant Pathogenic rs104894472 GRCh37 Chromosome 14, 68193772: 68193772
22 RDH12 NM_152443.2(RDH12): c.523T> C (p.Ser175Pro) single nucleotide variant Pathogenic rs104894472 GRCh38 Chromosome 14, 67727055: 67727055
23 RDH12 NM_152443.2(RDH12): c.152T> A (p.Ile51Asn) single nucleotide variant Pathogenic rs104894473 GRCh37 Chromosome 14, 68191273: 68191273
24 RDH12 NM_152443.2(RDH12): c.152T> A (p.Ile51Asn) single nucleotide variant Pathogenic rs104894473 GRCh38 Chromosome 14, 67724556: 67724556
25 RDH12 NM_152443.2(RDH12): c.658+1G> A single nucleotide variant Pathogenic rs387906272 GRCh37 Chromosome 14, 68193908: 68193908
26 RDH12 NM_152443.2(RDH12): c.658+1G> A single nucleotide variant Pathogenic rs387906272 GRCh38 Chromosome 14, 67727191: 67727191
27 RDH12 NM_152443.2(RDH12): c.464C> T (p.Thr155Ile) single nucleotide variant Pathogenic rs121434337 GRCh37 Chromosome 14, 68193713: 68193713
28 RDH12 NM_152443.2(RDH12): c.464C> T (p.Thr155Ile) single nucleotide variant Pathogenic rs121434337 GRCh38 Chromosome 14, 67726996: 67726996
29 RDH12 RDH12, 1-BP DEL, 776G deletion Pathogenic
30 RDH12 NM_152443.2(RDH12): c.377C> T (p.Ala126Val) single nucleotide variant Pathogenic rs202126574 GRCh37 Chromosome 14, 68192801: 68192801
31 RDH12 NM_152443.2(RDH12): c.377C> T (p.Ala126Val) single nucleotide variant Pathogenic rs202126574 GRCh38 Chromosome 14, 67726084: 67726084
32 RDH12 NM_152443.2(RDH12): c.210dupC (p.Arg71Glnfs) duplication Pathogenic rs797044761 GRCh37 Chromosome 14, 68191838: 68191838
33 RDH12 NM_152443.2(RDH12): c.210dupC (p.Arg71Glnfs) duplication Pathogenic rs797044761 GRCh38 Chromosome 14, 67725121: 67725121
34 RDH12 NM_152443.2(RDH12): c.63_66delCATC (p.Ile22Glyfs) deletion Likely pathogenic rs794729650 GRCh37 Chromosome 14, 68189422: 68189425
35 RDH12 NM_152443.2(RDH12): c.63_66delCATC (p.Ile22Glyfs) deletion Likely pathogenic rs794729650 GRCh38 Chromosome 14, 67722705: 67722708
36 RDH12 NM_152443.2(RDH12): c.716G> T (p.Arg239Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 14, 68195965: 68195965
37 RDH12 NM_152443.2(RDH12): c.716G> T (p.Arg239Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 14, 67729248: 67729248

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

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

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 8.62 GPHN RDH12

Sources for Leber Congenital Amaurosis 13

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