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 ⁵⁸ ¹² ⁵⁴ ⁷⁶ ³⁰ ¹³ ⁶ ¹⁵ ⁷⁴

Lca12 ⁵⁸ ¹² ⁵⁴ ⁷⁶

Amaurosis Congenita of Leber, Type 12 ⁵⁴

Leber Congenital Amaurosis, Type 12 ⁴¹

Leber Congenital Amaurosis Type 12 ⁵⁴

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal recessive

Miscellaneous:
funduscopy before 2 years of age is unremarkable

HPO:

³³

leber congenital amaurosis 12:
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:0110080

OMIM ⁵⁸ 610612

MeSH ⁴⁵ D057130

ICD10 ³⁴ H35.5

MedGen ⁴³ C1857743

SNOMED-CT via HPO ⁷⁰ 258211005 563001 95486002

UMLS ⁷⁴ C1857743

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Summaries for Leber Congenital Amaurosis 12

UniProtKB/Swiss-Prot : ⁷⁶ 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 and leber congenital amaurosis 1. 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.

Description from OMIM: 610612

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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

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	29.1	CEP290 GUCY2D RD3 RPE65
2	leber congenital amaurosis 1	10.1	GUCY2D RD3
3	cone-rod dystrophy 6	10.0	GUCY2D RD3
4	hereditary retinal dystrophy	9.9	CEP290 GUCY2D
5	leber congenital amaurosis 9	9.8	GUCY2D RPE65
6	leber congenital amaurosis 10	9.7	CEP290 RPE65
7	leber congenital amaurosis 4	9.7	GUCY2D RPE65
8	achromatopsia 3	9.7	GUCY2D RPE65
9	keratoconus	9.6	GUCY2D RPE65
10	retinal degeneration	9.5	GUCY2D RD3 RPE65
11	cone-rod dystrophy 2	9.5	GUCY2D RPE65
12	yemenite deaf-blind hypopigmentation syndrome	9.5	CEP290 GUCY2D RPE65
13	retinal disease	9.5	CEP290 GUCY2D RPE65
14	fundus dystrophy	9.2	CEP290 DNAJB12 GUCY2D RPE65
15	retinitis pigmentosa	9.1	CEP290 GUCY2D RD3 RPE65

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:

³³

#	Description	HPO Source Accession
1	nystagmus ³³	HP:0000639
2	abnormality of macular pigmentation ³³	HP:0008002
3	congenital blindness ³³	HP:0007875

Symptoms via clinical synopsis from OMIM:

⁵⁸

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:

⁴⁷

#	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 ³⁰	RD3

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Anatomical Context for Leber Congenital Amaurosis 12

MalaCards organs/tissues related to Leber Congenital Amaurosis 12:

⁴²

Retina, Eye, Bone

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Publications for Leber Congenital Amaurosis 12

Articles related to Leber Congenital Amaurosis 12:

#	Title	Authors	Year
1	RD3 gene delivery restores guanylate cyclase localization and rescues photoreceptors in the Rd3 mouse model of Leber congenital amaurosis 12. ( 23740938 )	Molday LL...Molday RS	2013
2	Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype. ( 23308101 )	Perrault I...Rozet JM	2013
3	Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy. ( 22531706 )	Preising MN...Lorenz B	2012
4	Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration. ( 17186464 )	Friedman JS...Swaroop A	2006

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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	1036.66	Molecular basis known ⁵⁸ Pathogenic ⁶ Genetic Tests ³⁰ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	22531706 20301475 30285347 (more) 23308101 17186464
2	GUCY2D	Guanylate Cyclase 2D, Retinal	Protein Coding	17.19	DISEASES inferred ¹⁵
3	CEP290	Centrosomal Protein 290	Protein Coding	15.62	DISEASES inferred ¹⁵
4	RPE65	Retinoid Isomerohydrolase RPE65	Protein Coding	15.13	DISEASES inferred ¹⁵
5	DNAJB12	DnaJ Heat Shock Protein Family (Hsp40) Member B12	Protein Coding	7.32	DISEASES inferred ¹⁵

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Variations for Leber Congenital Amaurosis 12

ClinVar genetic disease variations for Leber Congenital Amaurosis 12:

⁶ (show all 14)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	RD3	NM_183059.2(RD3): c.296+1G> A	single nucleotide variant	Pathogenic	rs386834260	GRCh37	Chromosome 1, 211654461: 211654461
2	RD3	NM_183059.2(RD3): c.296+1G> A	single nucleotide variant	Pathogenic	rs386834260	GRCh38	Chromosome 1, 211481119: 211481119
3	RD3	NM_183059.2(RD3): c.180C> A (p.Tyr60Ter)	single nucleotide variant	Pathogenic	rs762631020	GRCh37	Chromosome 1, 211654578: 211654578
4	RD3	NM_183059.2(RD3): c.180C> A (p.Tyr60Ter)	single nucleotide variant	Pathogenic	rs762631020	GRCh38	Chromosome 1, 211481236: 211481236
5	RD3	NM_183059.2(RD3): c.112C> T (p.Arg38Ter)	single nucleotide variant	Pathogenic	rs786205148	GRCh37	Chromosome 1, 211654646: 211654646
6	RD3	NM_183059.2(RD3): c.112C> T (p.Arg38Ter)	single nucleotide variant	Pathogenic	rs786205148	GRCh38	Chromosome 1, 211481304: 211481304
7	RD3	NM_183059.2(RD3): c.137_138delAG (p.Glu46Alafs)	deletion	Pathogenic	rs786205149	GRCh37	Chromosome 1, 211654620: 211654621
8	RD3	NM_183059.2(RD3): c.137_138delAG (p.Glu46Alafs)	deletion	Pathogenic	rs786205149	GRCh38	Chromosome 1, 211481278: 211481279
9	RD3	NM_183059.2(RD3): c.136G> T (p.Glu46Ter)	single nucleotide variant	Pathogenic	rs786205150	GRCh37	Chromosome 1, 211654622: 211654622
10	RD3	NM_183059.2(RD3): c.136G> T (p.Glu46Ter)	single nucleotide variant	Pathogenic	rs786205150	GRCh38	Chromosome 1, 211481280: 211481280
11	RD3	NM_183059.2(RD3): c.584A> T (p.Asp195Val)	single nucleotide variant	Benign/Likely benign	rs143207434	GRCh37	Chromosome 1, 211652382: 211652382
12	RD3	NM_183059.2(RD3): c.584A> T (p.Asp195Val)	single nucleotide variant	Benign/Likely benign	rs143207434	GRCh38	Chromosome 1, 211479040: 211479040
13	RD3	NM_183059.2(RD3): c.202C> T (p.Arg68Trp)	single nucleotide variant	Uncertain significance	rs144697496	GRCh37	Chromosome 1, 211654556: 211654556
14	RD3	NM_183059.2(RD3): c.202C> T (p.Arg68Trp)	single nucleotide variant	Uncertain significance	rs144697496	GRCh38	Chromosome 1, 211481214: 211481214

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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 ⁶⁷ Show member pathways Metabolism of vitamin K ⁶⁷ Retinoid metabolism and transport ⁶⁷ The retinoid cycle in cones (daylight vision) ⁶⁷ Visual phototransduction ⁶⁷ Vitamin D (calciferol) metabolism ⁶⁷	11.59	GUCY2D RPE65
2	Phototransduction ³⁸ Show member pathways Activation of the phototransduction cascade ⁶⁷ Inactivation, recovery and regulation of the phototransduction cascade ⁶⁷ The phototransduction cascade ⁶⁷ Visual signal transduction- Cones ¹ Visual signal transduction- Rods ¹	11.35	GUCY2D RPE65
3	Visual Cycle in Retinal Rods ⁶⁵	10.6	GUCY2D RPE65
4	Development_Thrombopoetin signaling via JAK-STAT pathway ²³	10.32	GUCY2D RPE65

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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	GUCY2D RD3 RPE65
2	retina development in camera-type eye	GO:0060041	8.96	RD3 RPE65
3	visual perception	GO:0007601	8.8	GUCY2D RD3 RPE65

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Sources for Leber Congenital Amaurosis 12

¹ BioSystems

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²¹ GeneAnalytics

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³¹ HGMD

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³⁴ ICD10

³⁵ ICD10 via Orphanet

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³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

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⁴⁹ NCBI Bookshelf

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⁵⁵ NINDS

⁵⁶ Novoseek

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⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

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⁶¹ PathCards

⁶² PharmGKB

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⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

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⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ 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