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

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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:

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

See all MalaCards categories (disease lists)

ICD10: ³¹

Diseases of the eye and adnexa

Disorders of choroid and retina

Other retinal disorders

Hereditary retinal dystrophy

External Ids:

Disease Ontology ¹¹ DOID:0110330

OMIM® ⁵⁷ 612712

OMIM Phenotypic Series ⁵⁷ PS268000,PS204000

MeSH ⁴³ C567197 D012174 D057130

ICD10 ³¹ H35.5

MedGen ⁴⁰ C2675186 C3150208

SNOMED-CT via HPO ⁶⁹ 13164000 302200001 314407005

UMLS ⁷¹ C2675186 C3150208

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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

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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:

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Symptoms & Phenotypes for Leber Congenital Amaurosis 13

Human phenotypes related to Leber Congenital Amaurosis 13:

³⁰

#	Description	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

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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

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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 ²⁸	RDH12

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Anatomical Context for Leber Congenital Amaurosis 13

Organs/tissues related to Leber Congenital Amaurosis 13:

MalaCards : Retina, Eye, Bone, Colon

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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	Benayoun L...Ben-Yosef T	19140180	2009
2	Association of a novel mutation in the retinol dehydrogenase 12 (RDH12) gene with autosomal dominant retinitis pigmentosa. ⁵⁷ ⁵	Fingert JH...Stone EM	18779497	2008
3	RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expression. ⁵⁷ ⁵	Jacobson SG...Thompson DA	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	Thompson DA...Gal A	16269441	2005
5	Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. ⁵⁷ ⁵	Perrault I...Rozet JM	15322982	2004
6	Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. ⁵⁷ ⁵	Janecke AR...Gal A	15258582	2004
7	Leber Congenital Amaurosis – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY ⁶² ⁵	Weleber RG...Beattie C	20301475	2004
8	Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients. ⁵	Sallum JMF...Belfort R	32865313	2020
9	Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy. ⁵	Xu K...Li Y	31630094	2020
10	Expanding the phenotypic spectrum in RDH12-associated retinal disease. ⁵	Scott HA...Bujakowska KM	32014858	2020
11	Detailed clinical characterisation, unique features and natural history of autosomal recessive RDH12-associated retinal degeneration. ⁵	Fahim AT...Michaelides M	30979730	2019
12	PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY. ⁵	Zou X...Sui R	30134391	2019
13	Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. ⁵	Jespersgaard C...Gronskov K	30718709	2019
14	The co-occurrence of rare non-ocular phenotypes in patients with inherited retinal degenerations. ⁵	Ehrenberg M...Ben-Yosef T	31814694	2019
15	RDH12 Mutations Cause a Severe Retinal Degeneration With Relatively Spared Rod Function. ⁵	Aleman TS...Bennett J	30372751	2018
16	Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy. ⁵	Porto FBO...Chen R	29186038	2017
17	The genetic profile of Leber congenital amaurosis in an Australian cohort. ⁵	Thompson JA...Lamey TM	29178642	2017
18	Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. ⁵	Nykamp K...Topper S	28492532	2017
19	Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease. ⁵	Stone EM...Tucker BA	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	Li Y...Gu YS	28471114	2017
21	Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families. ⁵	Li L...Hejtmancik JF	28418496	2017
22	Unravelling the genetic basis of simplex Retinitis Pigmentosa cases. ⁵	Bravo-Gil N...Antinolo G	28157192	2017
23	Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. ⁵	Carss KJ...Raymond FL	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	Wang S...Zhao P	27422788	2016
25	Molecular findings from 537 individuals with inherited retinal disease. ⁵	Ellingford JM...Black GCM	27208204	2016
26	Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies. ⁵	Patel N...Alkuraya FS	26355662	2016
27	Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel. ⁵	Bravo-Gil N...Antinolo G	27032803	2016
28	[Genotype-phenotype correlation in ten Tunisian families with non-syndromic retinitis pigmentosa]. ⁵	Chebil A...El Matri L	26868535	2016
29	NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa. ⁵	Ge Z...Chen R	26667666	2015
30	Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa. ⁵	Beheshtian M...Najmabadi H	26497376	2015
31	Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies. ⁵	Beryozkin A...Sharon D	26306921	2015
32	High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting. ⁵	Lee K...Garg S	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	Boulanger-Scemama E...Audo I	26103963	2015
34	Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort. ⁵	Wang H...Sui R	26047050	2015
35	BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies. ⁵	Borck G...Kubisch C	25561519	2015
36	Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa. ⁵	Gong B...Zhang H	26124963	2015
37	Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping. ⁵	Beryozkin A...Sharon D	24474277	2014
38	Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing. ⁵	Watson CM...Ali M	25133751	2014
39	Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. ⁵	Wang X...Chen R	23847139	2013
40	Exome sequencing identifies RDH12 compound heterozygous mutations in a family with severe retinitis pigmentosa. ⁵	Chacon-Camacho OF...Zenteno JC	23900199	2013
41	Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa. ⁵	Fu Q...Sui R	23661369	2013
42	Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. ⁵	Abu-Safieh L...Alkuraya FS	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	Eisenberger T...Bolz HJ	24265693	2013
44	RDH12 retinopathy: novel mutations and phenotypic description. ⁵	Mackay DS...Moore AT	22065924	2011
45	Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray. ⁵	Avila-Fernandez A...Ayuso C	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	Coppieters F...De Baere E	20683928	2010
47	Disease-associated variants of microsomal retinol dehydrogenase 12 (RDH12) are degraded at mutant-specific rates. ⁵	Lee SA...Kedishvili NY	20006610	2010
48	Molecular characterization of retinitis pigmentosa in Saudi Arabia. ⁵	Aldahmesh MA...Alkuraya FS	19956407	2009
49	Complexity of phenotype-genotype correlations in Spanish patients with RDH12 mutations. ⁵	Valverde D...Baiget M	19011012	2009
50	Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture. ⁵	Stone EM	17964524	2007

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Genes for Leber Congenital Amaurosis 13

Genes related to Leber Congenital Amaurosis 13 (3 elite genes):

(show all 16)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	RDH12	Retinol Dehydrogenase 12	Protein Coding	1341.1	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	2855908 15258582 15322982 (more) 16199547 16269441 17197551 17389517 17512964 17964524 18779497 19011012 19140180 19956407 20006610 20301475 20683928 21151602 22065924 23105016 23661369 23847139 23900199 24474277 25133751 25561519 25910913 26047050 26103963 26124963 26306921 26355662 26497376 26667666 26868535 27032803 27422788 28041643 28157192 28418496 28471114 28492532 28559085 29178642 29186038 30134391 30372751 30979730 31630094 31814694 32014858 32865313 24265693 27208204 30718709
2	GPHN	Gephyrin	Protein Coding	425	Pathogenic ⁵ Likely pathogenic ⁵	2855908 15258582 15322982 (more) 16199547 16269441 17197551 17389517 17512964 17964524 18779497 19011012 19140180 19956407 20006610 20301475 20683928 21151602 22065924 23105016 23661369 23847139 23900199 24474277 25133751 25561519 25910913 26047050 26103963 26124963 26306921 26355662 26497376 26667666 26868535 27032803 27422788 28041643 28157192 28418496 28471114 28492532 28559085 29178642 29186038 30134391 30372751 30979730 31630094 31814694 32014858 32865313 24265693 27208204 30718709
3	ZFYVE26	Zinc Finger FYVE-Type Containing 26	Protein Coding	425	Pathogenic ⁵ Likely pathogenic ⁵	2855908 15258582 15322982 (more) 16269441 17389517 17512964 18779497 19011012 20301475 20683928 22065924 23847139 25561519 25910913 26047050 26103963 26667666 28041643 28559085 29178642 30372751 30979730 32865313 16199547 17964524 24474277
4	RDH8	Retinol Dehydrogenase 8	Protein Coding	7.34	DISEASES inferred ¹⁴
5	SPATA7	Spermatogenesis Associated 7	Protein Coding	6.94	DISEASES inferred ¹⁴
6	RDH11	Retinol Dehydrogenase 11	Protein Coding	6.84	DISEASES inferred ¹⁴
7	LCA5	Lebercilin LCA5	Protein Coding	6.66	DISEASES inferred ¹⁴
8	AIPL1	Aryl Hydrocarbon Receptor Interacting Protein Like 1	Protein Coding	6.61	DISEASES inferred ¹⁴
9	IQCB1	IQ Motif Containing B1	Protein Coding	6.32	DISEASES inferred ¹⁴
10	TULP1	TUB Like Protein 1	Protein Coding	6.29	DISEASES inferred ¹⁴
11	IMPDH1	Inosine Monophosphate Dehydrogenase 1	Protein Coding	6.28	DISEASES inferred ¹⁴
12	RDH14	Retinol Dehydrogenase 14	Protein Coding	6.25	DISEASES inferred ¹⁴
13	RPGRIP1	RPGR Interacting Protein 1	Protein Coding	6.24	DISEASES inferred ¹⁴
14	KCNJ13	Potassium Inwardly Rectifying Channel Subfamily J Member 13	Protein Coding	6.22	DISEASES inferred ¹⁴
15	LRAT	Lecithin Retinol Acyltransferase	Protein Coding	6.21	DISEASES inferred ¹⁴
16	RPE65	Retinoid Isomerohydrolase RPE65	Protein Coding	6.19	DISEASES inferred ¹⁴

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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

Sources

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

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

#	Super pathways	Score	Top Affiliating Genes
1	Visual phototransduction ⁶⁶ Show member pathways Activation of the phototransduction cascade ⁶⁶ Defective SLC24A1 causes congenital stationary night blindness 1D (CSNB1D) ⁶⁶ Inactivation, recovery and regulation of the phototransduction cascade ⁶⁶ menaquinol-4 biosynthesis II ⁶¹ Metabolism of fat-soluble vitamins ⁶⁶ Metabolism of vitamin K ⁶⁶ Retinoid metabolism and transport ⁶⁶ retinol biosynthesis ⁶¹ The phototransduction cascade ⁶⁶ The retinoid cycle in cones (daylight vision) ⁶⁶ the visual cycle I (vertebrates) ⁶¹ Visual signal transduction: Rods ⁶¹ Vitamin E ⁶⁶	12.37	RPE65 RDH8 RDH12 RDH11 LRAT
2	Ciliary landscape ⁷⁴	11.96	SPATA7 LCA5 IQCB1
3	Ciliopathies ⁷⁴	11.7	TULP1 SPATA7 RPGRIP1 LCA5 IQCB1
4	Diseases of the neuronal system ⁶⁶ Show member pathways Biosynthesis of A2E, implicated in retinal degradation ⁶⁶ Diseases associated with visual transduction ⁶⁶ Retinoid cycle disease events ⁶⁶ The canonical retinoid cycle in rods (twilight vision) ⁶⁶	11.39	RPE65 RDH8 RDH12 RDH11 LRAT
5	Vitamin A and carotenoid metabolism ⁷⁴	11.25	RPE65 RDH8 RDH12 LRAT
6	Visual Cycle in Retinal Rods ⁶⁴	11.07	RPE65 RDH8 RDH14 RDH12 RDH11 LRAT
7	Retinol metabolism (TR) ²² Show member pathways Ifosfamide Pathway, Pharmacokinetics ⁶⁰	11.01	RPE65 RDH14 RDH12 RDH11 LRAT
8	Visual signal transduction: Cones ⁶¹	10.94	RPE65 RDH12 LRAT
9	Retinol metabolism (WikiPathways) ⁷⁴	10.8	RPE65 RDH12 LRAT

Sources

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

Sources for Leber Congenital Amaurosis 13

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

LCA13 MCID: LBR008 MIFTS: 48	Leber Congenital Amaurosis 13 (LCA13) Categories: Eye diseases, Genetic diseases, Neuronal diseases	Data Licensing For inquiries, contact: [email protected]
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Leber Congenital Amaurosis 13 (LCA13)

Aliases & Classifications for Leber Congenital Amaurosis 13

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Diseases in the Leber Congenital Amaurosis 4 family:

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ClinVar genetic disease variations for Leber Congenital Amaurosis 13:

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

Expression for Leber Congenital Amaurosis 13

Pathways for Leber Congenital Amaurosis 13

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

GO Terms for Leber Congenital Amaurosis 13

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

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

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

Sources for Leber Congenital Amaurosis 13