Leber Congenital Amaurosis 13 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

LCA13 MCID: LBR008 MIFTS: 27	Leber Congenital Amaurosis 13 (LCA13) Categories: Eye diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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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 dominant inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Eye diseases Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the eye and adnexa

Disorders of choroid and retina

Other retinal disorders

Hereditary retinal dystrophy

External Ids:

Disease Ontology ¹² DOID:0110330

OMIM ⁵⁸ 612712

MeSH ⁴⁵ D012174 D057130

ICD10 ³⁴ H35.5

MedGen ⁴³ C2675186 C3150208

SNOMED-CT via HPO ⁷⁰ 258211005 263681008 314407005

UMLS ⁷⁴ C2675186 C3150208

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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

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Related Diseases for Leber Congenital Amaurosis 13

Diseases in the Leber Congenital Amaurosis family:

Leber Congenital Amaurosis 1	Leber Congenital Amaurosis 2
Leber Congenital Amaurosis 3	Leber Congenital Amaurosis 4
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

Diseases related to Leber Congenital Amaurosis 13 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	leber congenital amaurosis	9.3	GPHN RDH12 ZFYVE26
2	retinitis pigmentosa	9.1	GPHN RDH12 ZFYVE26

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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

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Drugs & Therapeutics for Leber Congenital Amaurosis 13

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

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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

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Anatomical Context for Leber Congenital Amaurosis 13

MalaCards organs/tissues related to Leber Congenital Amaurosis 13:

⁴²

Retina, Bone, Eye

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Publications for Leber Congenital Amaurosis 13

Articles related to Leber Congenital Amaurosis 13:

#	Title	Authors	Year
1	Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mapping. ( 19140180 )	Benayoun L...Ben-Yosef T	2009
2	Association of a novel mutation in the retinol dehydrogenase 12 (RDH12) gene with autosomal dominant retinitis pigmentosa. ( 18779497 )	Fingert JH...Stone EM	2008
3	Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle. ( 16269441 )	Thompson DA...Gal A	2005
4	Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. ( 15322982 )	Perrault I...Rozet JM	2004
5	Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. ( 15258582 )	Janecke AR...Gal A	2004

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Genes for Leber Congenital Amaurosis 13

Genes related to Leber Congenital Amaurosis 13 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	RDH12	Retinol Dehydrogenase 12	Protein Coding	1336.3	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	18779497
2	GPHN	Gephyrin	Protein Coding	19.08	GeneCards inferred via : Variants (show sections)
3	ZFYVE26	Zinc Finger FYVE-Type Containing 26	Protein Coding	18.39	GeneCards inferred via : Variants (show sections)
4	PTH	Parathyroid Hormone	Protein Coding	13.8	DISEASES inferred ¹⁵

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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.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	Likely pathogenic	rs1239043055	GRCh38	Chromosome 14, 67729248: 67729248
37	RDH12	NM_152443.2(RDH12): c.716G> T (p.Arg239Leu)	single nucleotide variant	Likely pathogenic	rs1239043055	GRCh37	Chromosome 14, 68195965: 68195965
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

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Expression for Leber Congenital Amaurosis 13

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

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Pathways for Leber Congenital Amaurosis 13

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GO Terms for Leber Congenital Amaurosis 13

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Sources for Leber Congenital Amaurosis 13

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Leber Congenital Amaurosis 13 (LCA13)

Aliases & Classifications for Leber Congenital Amaurosis 13

MalaCards integrated aliases for Leber Congenital Amaurosis 13:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Leber Congenital Amaurosis 13

Related Diseases for Leber Congenital Amaurosis 13

Diseases in the Leber Congenital Amaurosis family:

Diseases related to Leber Congenital Amaurosis 13 via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Leber Congenital Amaurosis 13

Human phenotypes related to Leber Congenital Amaurosis 13:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

MGI Mouse Phenotypes related to Leber Congenital Amaurosis 13:

Drugs & Therapeutics for Leber Congenital Amaurosis 13

Genetic Tests for Leber Congenital Amaurosis 13

Genetic tests related to Leber Congenital Amaurosis 13:

Anatomical Context for Leber Congenital Amaurosis 13

MalaCards organs/tissues related to Leber Congenital Amaurosis 13:

Publications for Leber Congenital Amaurosis 13

Articles related to Leber Congenital Amaurosis 13:

Genes for Leber Congenital Amaurosis 13

Genes related to Leber Congenital Amaurosis 13 (1 elite genes):

Variations for Leber Congenital Amaurosis 13

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

ClinVar genetic disease variations for Leber Congenital Amaurosis 13:

Expression for Leber Congenital Amaurosis 13

Pathways for Leber Congenital Amaurosis 13

GO Terms for Leber Congenital Amaurosis 13

Sources for Leber Congenital Amaurosis 13