Leber Congenital Amaurosis 12 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Leber Congenital Amaurosis 12

MalaCards integrated aliases for Leber Congenital Amaurosis 12:

Name: Leber Congenital Amaurosis 12 ⁵⁷ ¹² ⁵³ ⁷⁴ ²⁹ ¹³ ⁶ ¹⁵ ⁷²

Lca12 ⁵⁷ ¹² ⁵³ ⁷⁴

Amaurosis Congenita of Leber, Type 12 ⁵³

Leber Congenital Amaurosis, Type 12 ⁴⁰

Leber Congenital Amaurosis Type 12 ⁵³

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
funduscopy before 2 years of age is unremarkable

HPO:

³²

leber congenital amaurosis 12:
Inheritance autosomal recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the eye and adnexa

Disorders of choroid and retina

Other retinal disorders

Hereditary retinal dystrophy

External Ids:

Disease Ontology ¹² DOID:0110080

OMIM ⁵⁷ 610612 PS204000

MeSH ⁴⁴ D057130

ICD10 ³³ H35.5

MedGen ⁴² C1857743

UMLS ⁷² C1857743

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Summaries for Leber Congenital Amaurosis 12

UniProtKB/Swiss-Prot : ⁷⁴ Leber congenital amaurosis 12: 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.

MalaCards based summary : Leber Congenital Amaurosis 12, also known as lca12, is related to leber congenital amaurosis 1 and leber congenital amaurosis. An important gene associated with Leber Congenital Amaurosis 12 is RD3 (Retinal Degeneration 3, GUCY2D Regulator), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Phototransduction. Affiliated tissues include retina, eye and bone, and related phenotypes are nystagmus and abnormality of macular pigmentation

Disease Ontology : ¹² A Leber congenital amaurosis that has material basis in mutation in the RD3 gene on chromosome 1q32.

More information from OMIM: 610612 PS204000

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Related Diseases for Leber Congenital Amaurosis 12

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	Leber Congenital Amaurosis 19

Diseases related to Leber Congenital Amaurosis 12 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)

#	Related Disease	Score	Top Affiliating Genes
1	leber congenital amaurosis 1	30.4	RD3 GUCY2D
2	leber congenital amaurosis	28.4	RPE65 RD3 GUCY2D CEP290
3	cone-rod dystrophy 6	9.9	RD3 GUCY2D
4	hereditary retinal dystrophy	9.8	GUCY2D CEP290
5	leber congenital amaurosis 9	9.6	RPE65 GUCY2D
6	leber congenital amaurosis 10	9.6	RPE65 CEP290
7	leber congenital amaurosis 4	9.5	RPE65 GUCY2D
8	achromatopsia 3	9.5	RPE65 GUCY2D
9	keratoconus	9.4	RPE65 GUCY2D
10	retinal degeneration	9.3	RPE65 RD3 GUCY2D
11	cone-rod dystrophy 2	9.2	RPE65 GUCY2D
12	yemenite deaf-blind hypopigmentation syndrome	9.1	RPE65 GUCY2D CEP290
13	retinal disease	9.1	RPE65 GUCY2D CEP290
14	fundus dystrophy	8.7	RPE65 GUCY2D DNAJB12 CEP290
15	retinitis pigmentosa	8.6	RPE65 RD3 GUCY2D CEP290

Graphical network of the top 20 diseases related to Leber Congenital Amaurosis 12:

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Symptoms & Phenotypes for Leber Congenital Amaurosis 12

Human phenotypes related to Leber Congenital Amaurosis 12:

³²

#	Description	HPO Source Accession
1	nystagmus ³²	HP:0000639
2	abnormality of macular pigmentation ³²	HP:0008002
3	congenital blindness ³²	HP:0007875

Symptoms via clinical synopsis from OMIM:

⁵⁷

Head And Neck Eyes:
attenuated vessels
decreased color vision
absence of ocular pursuit since birth
digitoocular sign of franceschetti
progressively decreasing vision to light perception only
more

Clinical features from OMIM:

610612

MGI Mouse Phenotypes related to Leber Congenital Amaurosis 12:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	nervous system	MP:0003631	9.35	CEP290 DNAJB12 GUCY2D RD3 RPE65
2	vision/eye	MP:0005391	8.92	CEP290 GUCY2D RD3 RPE65

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Drugs & Therapeutics for Leber Congenital Amaurosis 12

Search Clinical Trials , NIH Clinical Center for Leber Congenital Amaurosis 12

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Genetic Tests for Leber Congenital Amaurosis 12

Genetic tests related to Leber Congenital Amaurosis 12:

#	Genetic test	Affiliating Genes
1	Leber Congenital Amaurosis 12 ²⁹	RD3

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Anatomical Context for Leber Congenital Amaurosis 12

MalaCards organs/tissues related to Leber Congenital Amaurosis 12:

⁴¹

Retina, Eye, Bone

Sources

Publications for Leber Congenital Amaurosis 12

Articles related to Leber Congenital Amaurosis 12:

(show all 17)

#	Title	Authors	PMID	Year
1	Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype. ³⁸ ⁸ ⁷¹	Perrault I...Rozet JM	23308101	2013
2	Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy. ³⁸ ⁸ ⁷¹	Preising MN...Lorenz B	22531706	2012
3	Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration. ⁸ ⁷¹	Friedman JS...Swaroop A	17186464	2006
4	Leber Congenital Amaurosis ³⁸ ⁷¹	Weleber RG...Beattie C	20301475	2004
5	Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview ⁷¹	Kumaran N...Michaelides M	30285347	2018
6	Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. ⁷¹	Abu-Safieh L...Alkuraya FS	23105016	2013
7	Genetics and molecular basis of human peroxisome biogenesis disorders. ⁷¹	Waterham HR...Ebberink MS	22871920	2012
8	Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotype. ⁷¹	Gartner J...Biermanns M	10384394	1999
9	Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. ⁷¹	Reuber BE...Gould SJ	9398847	1997
10	Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders. ⁷¹	Portsteffen H...Dodt G	9398848	1997
11	Control of the Nucleotide Cycle in Photoreceptor Cell Extracts by Retinal Degeneration Protein 3. ³⁸	Wimberg H...Koch KW	29515371	2018
12	Mouse Models as Tools to Identify Genetic Pathways for Retinal Degeneration, as Exemplified by Leber's Congenital Amaurosis. ³⁸	Chang B	27150101	2016
13	Insights into the role of RD3 in guanylate cyclase trafficking, photoreceptor degeneration, and Leber congenital amaurosis. ³⁸	Molday LL...Molday RS	24904271	2014
14	RD3 gene delivery restores guanylate cyclase localization and rescues photoreceptors in the Rd3 mouse model of Leber congenital amaurosis 12. ³⁸	Molday LL...Molday RS	23740938	2013
15	RD3: a challenge and a promise. ³⁸	Azadi S	25679013	2013
16	Retinal degeneration 3 (RD3) protein inhibits catalytic activity of retinal membrane guanylyl cyclase (RetGC) and its stimulation by activating proteins. ³⁸	Peshenko IV...Dizhoor AM	21928830	2011
17	RD3, the protein associated with Leber congenital amaurosis type 12, is required for guanylate cyclase trafficking in photoreceptor cells. ³⁸	Azadi S...Molday RS	21078983	2010

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Genes for Leber Congenital Amaurosis 12

Genes related to Leber Congenital Amaurosis 12 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	RD3	Retinal Degeneration 3, GUCY2D Regulator	Protein Coding	1036.58	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	23308101 30285347 20301475 (more) 17186464 22531706
2	GUCY2D	Guanylate Cyclase 2D, Retinal	Protein Coding	17.14	DISEASES inferred ¹⁵
3	CEP290	Centrosomal Protein 290	Protein Coding	15.59	DISEASES inferred ¹⁵
4	RPE65	Retinoid Isomerohydrolase RPE65	Protein Coding	15.08	DISEASES inferred ¹⁵
5	DNAJB12	DnaJ Heat Shock Protein Family (Hsp40) Member B12	Protein Coding	7.41	DISEASES inferred ¹⁵

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Variations for Leber Congenital Amaurosis 12

ClinVar genetic disease variations for Leber Congenital Amaurosis 12:

⁶

#	Gene	Variation	Type	Significance	SNP ID	GRCh37 Pos	GRCh38 Pos
1	RD3	NM_183059.2(RD3): c.296+1G> A	single nucleotide variant	Pathogenic	rs386834260	1:211654461-211654461	1:211481119-211481119
2	RD3	NM_183059.2(RD3): c.180C> A (p.Tyr60Ter)	single nucleotide variant	Pathogenic	rs762631020	1:211654578-211654578	1:211481236-211481236
3	RD3	NM_183059.2(RD3): c.112C> T (p.Arg38Ter)	single nucleotide variant	Pathogenic	rs786205148	1:211654646-211654646	1:211481304-211481304
4	RD3	NM_183059.2(RD3): c.137_138del (p.Glu46fs)	deletion	Pathogenic	rs786205149	1:211654620-211654621	1:211481278-211481279
5	RD3	NM_183059.2(RD3): c.136G> T (p.Glu46Ter)	single nucleotide variant	Pathogenic	rs786205150	1:211654622-211654622	1:211481280-211481280
6	RD3	NM_183059.2(RD3): c.202C> T (p.Arg68Trp)	single nucleotide variant	Uncertain significance	rs144697496	1:211654556-211654556	1:211481214-211481214
7	RD3	NM_183059.2(RD3): c.584A> T (p.Asp195Val)	single nucleotide variant	Benign/Likely benign	rs143207434	1:211652382-211652382	1:211479040-211479040

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Expression for Leber Congenital Amaurosis 12

Search GEO for disease gene expression data for Leber Congenital Amaurosis 12.

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Pathways for Leber Congenital Amaurosis 12

Pathways related to Leber Congenital Amaurosis 12 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Metabolism of fat-soluble vitamins ⁶⁶ Show member pathways Metabolism of vitamin K ⁶⁶ Retinoid metabolism and transport ⁶⁶ The retinoid cycle in cones (daylight vision) ⁶⁶ Visual phototransduction ⁶⁶ Vitamin D (calciferol) metabolism ⁶⁶	11.59	RPE65 GUCY2D
2	Phototransduction ³⁷ Show member pathways Activation of the phototransduction cascade ⁶⁶ Inactivation, recovery and regulation of the phototransduction cascade ⁶⁶ The phototransduction cascade ⁶⁶ Visual signal transduction- Cones ¹ Visual signal transduction- Rods ¹	11.35	RPE65 GUCY2D
3	Visual Cycle in Retinal Rods ⁶⁴	10.93	RPE65 GUCY2D
4	Development_Thrombopoetin signaling via JAK-STAT pathway ²²	9.98	RPE65 GUCY2D

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GO Terms for Leber Congenital Amaurosis 12

Biological processes related to Leber Congenital Amaurosis 12 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	response to stimulus	GO:0050896	9.33	RPE65 RD3 GUCY2D
2	retina development in camera-type eye	GO:0060041	8.96	RPE65 RD3
3	visual perception	GO:0007601	8.8	RPE65 RD3 GUCY2D

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Sources for Leber Congenital Amaurosis 12

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

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¹³ diseasecard

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¹⁶ DrugBank

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¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

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 TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ Wikipedia

Leber Congenital Amaurosis 12 (LCA12)

Aliases & Classifications for Leber Congenital Amaurosis 12

MalaCards integrated aliases for Leber Congenital Amaurosis 12:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Leber Congenital Amaurosis 12

Related Diseases for Leber Congenital Amaurosis 12

Diseases in the Leber Congenital Amaurosis family:

Diseases related to Leber Congenital Amaurosis 12 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Leber Congenital Amaurosis 12:

Symptoms & Phenotypes for Leber Congenital Amaurosis 12

Human phenotypes related to Leber Congenital Amaurosis 12:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

MGI Mouse Phenotypes related to Leber Congenital Amaurosis 12:

Drugs & Therapeutics for Leber Congenital Amaurosis 12

Genetic Tests for Leber Congenital Amaurosis 12

Genetic tests related to Leber Congenital Amaurosis 12:

Anatomical Context for Leber Congenital Amaurosis 12

MalaCards organs/tissues related to Leber Congenital Amaurosis 12:

Publications for Leber Congenital Amaurosis 12

Articles related to Leber Congenital Amaurosis 12:

Genes for Leber Congenital Amaurosis 12

Genes related to Leber Congenital Amaurosis 12 (1 elite genes):

Variations for Leber Congenital Amaurosis 12

ClinVar genetic disease variations for Leber Congenital Amaurosis 12:

Expression for Leber Congenital Amaurosis 12

Pathways for Leber Congenital Amaurosis 12

Pathways related to Leber Congenital Amaurosis 12 according to GeneCards Suite gene sharing:

GO Terms for Leber Congenital Amaurosis 12

Biological processes related to Leber Congenital Amaurosis 12 according to GeneCards Suite gene sharing:

Sources for Leber Congenital Amaurosis 12