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

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Aliases & Classifications for Leber Congenital Amaurosis 19

MalaCards integrated aliases for Leber Congenital Amaurosis 19:

Name: Leber Congenital Amaurosis 19 ⁵⁶ ⁷³ ⁶

Lca19 ⁵⁶ ⁷³

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal recessive

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

HPO:

³¹

leber congenital amaurosis 19:
Inheritance autosomal recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 618513

OMIM Phenotypic Series ⁵⁶ PS204000

MeSH ⁴³ D057130

MedGen ⁴¹ C5193139 CN261157

SNOMED-CT via HPO ⁶⁸ 246635007 258211005 302200001 more

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Summaries for Leber Congenital Amaurosis 19

UniProtKB/Swiss-Prot : ⁷³ Leber congenital amaurosis 19: A form of Leber congenital amaurosis, 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. LCA19 is an autosomal recessive form characterized by reduced vision in early childhood and severely reduced responses of both rods and cones.

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). Affiliated tissues include retina, and related phenotypes are nystagmus and optic disc pallor

OMIM : ⁵⁶ 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)

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Related Diseases for Leber Congenital Amaurosis 19

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

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Symptoms & Phenotypes for Leber Congenital Amaurosis 19

Human phenotypes related to Leber Congenital Amaurosis 19:

³¹ (show all 6)

#	Description	HPO Frequency	HPO Source Accession
1	nystagmus ³¹	very rare (1%)	HP:0000639
2	optic disc pallor ³¹	very rare (1%)	HP:0000543
3	visual impairment ³¹		HP:0000505
4	retinal degeneration ³¹		HP:0000546
5	attenuation of retinal blood vessels ³¹		HP:0007843
6	decreased light- and dark-adapted electroretinogram amplitude ³¹		HP:0000654

Symptoms via clinical synopsis from OMIM:

⁵⁶

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

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Drugs & Therapeutics for Leber Congenital Amaurosis 19

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

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Genetic Tests for Leber Congenital Amaurosis 19

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Anatomical Context for Leber Congenital Amaurosis 19

MalaCards organs/tissues related to Leber Congenital Amaurosis 19:

⁴⁰

Retina

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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. ⁶ ⁵⁶	Yi Z...Zhang Q	30573563	2019
2	Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. ⁶	Abu-Safieh L...Alkuraya FS	23105016	2013
3	Genetics and molecular basis of human peroxisome biogenesis disorders. ⁶	Waterham HR...Ebberink MS	22871920	2012
4	Leber Congenital Amaurosis – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY ⁶	Weleber RG...Beattie C	20301475	2004
5	Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotype. ⁶	Gartner J...Biermanns M	10384394	1999
6	Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. ⁶	Reuber BE...Gould SJ	9398847	1997
7	Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders. ⁶	Portsteffen H...Dodt G	9398848	1997

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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	967.41	Molecular basis known ⁵⁶ Pathogenic ⁶ Unconfirmed association ⁵⁶ GeneCards inferred via : Disorders Variants (show sections)	30573563
2	TSTD3	Thiosulfate Sulfurtransferase Like Domain Containing 3	Protein Coding	7.53	GeneCards inferred via : Variants (show sections)

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Variations for Leber Congenital Amaurosis 19

ClinVar genetic disease variations for Leber Congenital Amaurosis 19:

⁶ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	USP45	NM_001346022.3(USP45):c.935G>A (p.Arg312Gln)	SNV	Pathogenic	638072		6:99916493-99916493	6:99468617-99468617

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Expression for Leber Congenital Amaurosis 19

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

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Pathways for Leber Congenital Amaurosis 19

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GO Terms for Leber Congenital Amaurosis 19

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Sources for Leber Congenital Amaurosis 19

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⁷¹ UMLS

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⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Leber Congenital Amaurosis 19 (LCA19)

Aliases & Classifications for Leber Congenital Amaurosis 19

MalaCards integrated aliases for Leber Congenital Amaurosis 19:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Leber Congenital Amaurosis 19

Related Diseases for Leber Congenital Amaurosis 19

Diseases in the Leber Congenital Amaurosis 4 family:

Symptoms & Phenotypes for Leber Congenital Amaurosis 19

Human phenotypes related to 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

MalaCards organs/tissues related to 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