Leber Congenital Amaurosis 19 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

Aliases & Classifications for Leber Congenital Amaurosis 19

MalaCards integrated aliases for Leber Congenital Amaurosis 19:

Name: Leber Congenital Amaurosis 19 ⁵⁷ ⁶

Lca19 ⁵⁷

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
onset of symptoms in early childhood
based on report of 1 patient (last curated july 2019)

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 618513 PS204000

Sources

Summaries for Leber Congenital Amaurosis 19

OMIM : ⁵⁷ Leber congenital amaurosis-19 (LCA19) is characterized by reduced vision in early childhood and severely reduced responses of both rods and cones on electroretinography (Yi et al., 2019). For a general description and a discussion of genetic heterogeneity of LCA, see 204000. (618513)

MalaCards based summary : Leber Congenital Amaurosis 19, is also known as lca19. An important gene associated with Leber Congenital Amaurosis 19 is USP45 (Ubiquitin Specific Peptidase 45).

Sources

Related Diseases for Leber Congenital Amaurosis 19

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

Sources

Symptoms & Phenotypes for Leber Congenital Amaurosis 19

Symptoms via clinical synopsis from OMIM:

⁵⁷

Head And Neck Eyes:
nystagmus
pale optic disc
reduced vision
attenuated retinal arteries
retinal degeneration, carpet-like, in midperiphery
more

Clinical features from OMIM:

618513

Sources

Drugs & Therapeutics for Leber Congenital Amaurosis 19

Search Clinical Trials , NIH Clinical Center for Leber Congenital Amaurosis 19

Sources

Genetic Tests for Leber Congenital Amaurosis 19

Sources

Anatomical Context for Leber Congenital Amaurosis 19

Sources

Publications for Leber Congenital Amaurosis 19

Articles related to Leber Congenital Amaurosis 19:

#	Title	Authors	PMID	Year
1	Biallelic mutations in USP45, encoding a deubiquitinating enzyme, are associated with Leber congenital amaurosis. ⁸ ⁷¹	Yi Z...Zhang Q	30573563	2019
2	Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. ⁷¹	Abu-Safieh L...Alkuraya FS	23105016	2013
3	Genetics and molecular basis of human peroxisome biogenesis disorders. ⁷¹	Waterham HR...Ebberink MS	22871920	2012
4	Leber Congenital Amaurosis ⁷¹	Weleber RG...Beattie C	20301475	2004
5	Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotype. ⁷¹	Gartner J...Biermanns M	10384394	1999
6	Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. ⁷¹	Reuber BE...Gould SJ	9398847	1997
7	Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders. ⁷¹	Portsteffen H...Dodt G	9398848	1997

Sources

Genes for Leber Congenital Amaurosis 19

Genes related to Leber Congenital Amaurosis 19 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	USP45	Ubiquitin Specific Peptidase 45	Protein Coding	950	Molecular basis known ⁵⁷ Pathogenic ⁶ Unconfirmed association ⁵⁷

Sources

Variations for Leber Congenital Amaurosis 19

ClinVar genetic disease variations for Leber Congenital Amaurosis 19:

⁶

#	Gene	Variation	Type	Significance	SNP ID	GRCh37 Pos	GRCh38 Pos
1	USP45	NM_001346024.2(USP45): c.934-3481G> A	single nucleotide variant	Pathogenic		6:99916493-99916493	6:99468617-99468617

Sources

Expression for Leber Congenital Amaurosis 19

Search GEO for disease gene expression data for Leber Congenital Amaurosis 19.

Sources

Pathways for Leber Congenital Amaurosis 19

Sources

GO Terms for Leber Congenital Amaurosis 19

Sources

Sources for Leber Congenital Amaurosis 19

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 EFO

¹⁸ ExPASy

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 19 (LCA19)

Aliases & Classifications for Leber Congenital Amaurosis 19

MalaCards integrated aliases for Leber Congenital Amaurosis 19:

Characteristics:

OMIM:

Classifications:

External Ids:

Summaries for Leber Congenital Amaurosis 19

Related Diseases for Leber Congenital Amaurosis 19

Diseases in the Leber Congenital Amaurosis family:

Symptoms & Phenotypes for Leber Congenital Amaurosis 19

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Leber Congenital Amaurosis 19

Genetic Tests for Leber Congenital Amaurosis 19

Anatomical Context for Leber Congenital Amaurosis 19

Publications for Leber Congenital Amaurosis 19

Articles related to Leber Congenital Amaurosis 19:

Genes for Leber Congenital Amaurosis 19

Genes related to Leber Congenital Amaurosis 19 (1 elite genes):

Variations for Leber Congenital Amaurosis 19

ClinVar genetic disease variations for Leber Congenital Amaurosis 19:

Expression for Leber Congenital Amaurosis 19

Pathways for Leber Congenital Amaurosis 19

GO Terms for Leber Congenital Amaurosis 19

Sources for Leber Congenital Amaurosis 19