Leber Congenital Amaurosis 5 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Leber Congenital Amaurosis 5

MalaCards integrated aliases for Leber Congenital Amaurosis 5:

Name: Leber Congenital Amaurosis 5 ⁵⁷ ¹² ⁵³ ⁷⁵ ²⁹ ¹³ ⁶ ¹⁵ ⁷³

Lca5 ⁵⁷ ¹² ⁵³ ⁷⁵

Amaurosis Congenita of Leber, Type 5 ⁵³

Leber Congenital Amaurosis, Type 5 ⁴⁰

Leber Congenital Amaurosis Type 5 ⁵³

Characteristics:

HPO:

³²

leber congenital amaurosis 5:
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: ³³

Diseases of the eye and adnexa

Disorders of choroid and retina

Other retinal disorders

Hereditary retinal dystrophy

External Ids:

OMIM ⁵⁷ 604537

Disease Ontology ¹² DOID:0110215

ICD10 ³³ H35.5

MedGen ⁴² C1858301

MeSH ⁴⁴ D057130

SNOMED-CT via HPO ⁶⁹ 258211005 246635007 397540003 more

UMLS ⁷³ C1858301

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Summaries for Leber Congenital Amaurosis 5

UniProtKB/Swiss-Prot : ⁷⁵ Leber congenital amaurosis 5: 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 5, also known as lca5, is related to leber congenital amaurosis and retinitis pigmentosa. An important gene associated with Leber Congenital Amaurosis 5 is LCA5 (LCA5, Lebercilin). Affiliated tissues include retina and eye, and related phenotypes are nystagmus and visual impairment

Disease Ontology : ¹² A Leber congenital amaurosis that is characterized by severe visual dysfunction, nystagmus, the oculodigital sign, and a normal fundus with onset in infancy and has material basis in mutation in the LCA5 gene on chromosome 6q14.1.

Description from OMIM: 604537

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Related Diseases for Leber Congenital Amaurosis 5

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 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)

#	Related Disease	Score	Top Affiliating Genes
1	leber congenital amaurosis	31.9	LCA5 LCA5L LOC100506851
2	retinitis pigmentosa	11.5
3	joubert syndrome 1	11.3
4	simpson-golabi-behmel syndrome, type 2	11.1
5	leber congenital amaurosis 3	11.1
6	leber congenital amaurosis 9	11.1
7	fundus dystrophy	11.1
8	severe early-childhood-onset retinal dystrophy	11.0
9	leber congenital amaurosis 4	10.1
10	cone dystrophy	10.1
11	retinitis	10.1
12	ichthyosis lamellar 1	10.0
13	autosomal recessive congenital ichthyosis	10.0
14	ichthyosis	10.0

Graphical network of the top 20 diseases related to Leber Congenital Amaurosis 5:

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Symptoms & Phenotypes for Leber Congenital Amaurosis 5

Clinical features from OMIM:

604537

Human phenotypes related to Leber Congenital Amaurosis 5:

³²

#	Description	HPO Source Accession
1	nystagmus ³²	HP:0000639
2	visual impairment ³²	HP:0000505
3	hypermetropia ³²	HP:0000540
4	undetectable electroretinogram ³²	HP:0000550

GenomeRNAi Phenotypes related to Leber Congenital Amaurosis 5 according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability of wild-type and TP53 knockout cells, decreased TP53 protein expression ratio (wild-type / TP53 knockout cells)	GR00196-A-1	8.62	LCA5 LCA5L

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Drugs & Therapeutics for Leber Congenital Amaurosis 5

Search Clinical Trials , NIH Clinical Center for Leber Congenital Amaurosis 5

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Genetic Tests for Leber Congenital Amaurosis 5

Genetic tests related to Leber Congenital Amaurosis 5:

#	Genetic test	Affiliating Genes
1	Leber Congenital Amaurosis 5 ²⁹	LCA5

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Anatomical Context for Leber Congenital Amaurosis 5

MalaCards organs/tissues related to Leber Congenital Amaurosis 5:

⁴¹

Retina, Eye

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Publications for Leber Congenital Amaurosis 5

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Genes for Leber Congenital Amaurosis 5

Genes related to Leber Congenital Amaurosis 5 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	LCA5	LCA5, Lebercilin	Protein Coding	1057.13	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Gene name Transcripts Variants (show sections)	20301475 12642313 17546029 (more) 30285347 10631161 16123401
2	LCA5L	LCA5L, Lebercilin Like	Protein Coding	17.93	GeneCards inferred via : Gene name Transcripts (show sections)
3	LOC100506851	Uncharacterized LOC100506851	RNA Gene	8	GeneCards inferred via : Variants (show sections)

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Variations for Leber Congenital Amaurosis 5

ClinVar genetic disease variations for Leber Congenital Amaurosis 5:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	LCA5	NM_181714.3(LCA5): c.1151delC (p.Pro384Glnfs)	deletion	Pathogenic	rs386834252	GRCh37	Chromosome 6, 80198881: 80198881
2	LCA5	NM_181714.3(LCA5): c.1151delC (p.Pro384Glnfs)	deletion	Pathogenic	rs386834252	GRCh38	Chromosome 6, 79489164: 79489164
3	LCA5	NM_181714.3(LCA5): c.1476dupA (p.Pro493Thrfs)	duplication	Pathogenic	rs386834253	GRCh37	Chromosome 6, 80197339: 80197339
4	LCA5	NM_181714.3(LCA5): c.1476dupA (p.Pro493Thrfs)	duplication	Pathogenic	rs386834253	GRCh38	Chromosome 6, 79487622: 79487622
5	LCA5	NM_181714.3(LCA5): c.835C> T (p.Gln279Ter)	single nucleotide variant	Pathogenic	rs121918165	GRCh37	Chromosome 6, 80203353: 80203353
6	LCA5	NM_181714.3(LCA5): c.835C> T (p.Gln279Ter)	single nucleotide variant	Pathogenic	rs121918165	GRCh38	Chromosome 6, 79493636: 79493636
7	LCA5	NM_181714.3(LCA5): c.-1688_-298+207del1598	deletion	Pathogenic		GRCh37	Chromosome 6, 80246626: 80248223
8	LCA5	NM_181714.3(LCA5): c.-1688_-298+207del1598	deletion	Pathogenic		GRCh38	Chromosome 6, 79536909: 79538506
9	LCA5	NM_181714.3(LCA5): c.1062C> G (p.Tyr354Ter)	single nucleotide variant	Pathogenic	rs183261547	GRCh37	Chromosome 6, 80201341: 80201341
10	LCA5	NM_181714.3(LCA5): c.1062C> G (p.Tyr354Ter)	single nucleotide variant	Pathogenic	rs183261547	GRCh38	Chromosome 6, 79491624: 79491624

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Expression for Leber Congenital Amaurosis 5

Search GEO for disease gene expression data for Leber Congenital Amaurosis 5.

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Pathways for Leber Congenital Amaurosis 5

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GO Terms for Leber Congenital Amaurosis 5

Cellular components related to Leber Congenital Amaurosis 5 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	axoneme	GO:0005930	8.62	LCA5 LCA5L

Biological processes related to Leber Congenital Amaurosis 5 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	intraciliary transport	GO:0042073	8.62	LCA5 LCA5L

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Sources for Leber Congenital Amaurosis 5

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

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

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 SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Leber Congenital Amaurosis 5 (LCA5)

Aliases & Classifications for Leber Congenital Amaurosis 5

MalaCards integrated aliases for Leber Congenital Amaurosis 5:

Characteristics:

HPO:

Classifications:

External Ids:

Summaries for Leber Congenital Amaurosis 5

Related Diseases for Leber Congenital Amaurosis 5

Diseases in the Leber Congenital Amaurosis family:

Diseases related to Leber Congenital Amaurosis 5 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Leber Congenital Amaurosis 5:

Symptoms & Phenotypes for Leber Congenital Amaurosis 5

Clinical features from OMIM:

Human phenotypes related to Leber Congenital Amaurosis 5:

GenomeRNAi Phenotypes related to Leber Congenital Amaurosis 5 according to GeneCards Suite gene sharing:

Drugs & Therapeutics for Leber Congenital Amaurosis 5

Genetic Tests for Leber Congenital Amaurosis 5

Genetic tests related to Leber Congenital Amaurosis 5:

Anatomical Context for Leber Congenital Amaurosis 5

MalaCards organs/tissues related to Leber Congenital Amaurosis 5:

Publications for Leber Congenital Amaurosis 5

Genes for Leber Congenital Amaurosis 5

Genes related to Leber Congenital Amaurosis 5 (1 elite genes):

Variations for Leber Congenital Amaurosis 5

ClinVar genetic disease variations for Leber Congenital Amaurosis 5:

Expression for Leber Congenital Amaurosis 5

Pathways for Leber Congenital Amaurosis 5

GO Terms for Leber Congenital Amaurosis 5

Cellular components related to Leber Congenital Amaurosis 5 according to GeneCards Suite gene sharing:

Biological processes related to Leber Congenital Amaurosis 5 according to GeneCards Suite gene sharing:

Sources for Leber Congenital Amaurosis 5