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 ⁵⁷ ¹¹ ⁷³ ⁵ ³⁸

Lca19 ⁵⁷ ⁷³

Characteristics:

Inheritance:

Autosomal recessive ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

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

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:0081169

OMIM® ⁵⁷ 618513

OMIM Phenotypic Series ⁵⁷ PS204000

MeSH ⁴³ D057130

MedGen ⁴⁰ C5193139 CN261157

SNOMED-CT via HPO ⁶⁹ 246635007 302200001 397540003 more

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Summaries for Leber Congenital Amaurosis 19

UniProtKB/Swiss-Prot: ⁷³ 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®: 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) (Updated 08-Dec-2022)

Disease Ontology: ¹¹ A Leber congenital amaurosis that has material basis in mutation in the USP45 gene on chromosome 6q16.

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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:

³⁰ (show all 6)

#	Description	HPO Frequency	HPO Source Accession
1	nystagmus ³⁰	Very rare (1%)	HP:0000639
2	optic disc pallor ³⁰	Very rare (1%)	HP:0000543
3	visual impairment ³⁰		HP:0000505
4	retinal degeneration ³⁰		HP:0000546
5	attenuation of retinal blood vessels ³⁰		HP:0007843
6	decreased light- and dark-adapted electroretinogram amplitude ³⁰		HP:0000654

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

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 (Updated 08-Dec-2022)

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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

Organs/tissues related to Leber Congenital Amaurosis 19:

MalaCards : 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. ⁵⁷ ⁵	Yi Z...Zhang Q	30573563	2019

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Genes for Leber Congenital Amaurosis 19

Genes related to Leber Congenital Amaurosis 19 (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	USP45	Ubiquitin Specific Peptidase 45	Protein Coding	958.04	Molecular basis known ⁵⁷ Pathogenic ⁵ Unconfirmed association ⁵⁷ GeneCards inferred via : Disorders (show sections)	30573563
2	TSTD3	Thiosulfate Sulfurtransferase Like Domain Containing 3	Protein Coding	400	Pathogenic ⁵	30573563

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Variations for Leber Congenital Amaurosis 19

ClinVar genetic disease variations for Leber Congenital Amaurosis 19:

⁵

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	TSTD3, USP45	NM_001346022.3(USP45):c.935G>A (p.Arg312Gln)	SNV	Pathogenic	638072	rs202240410	GRCh37: 6:99916493-99916493 GRCh38: 6:99468617-99468617
2	TSTD3, USP45	NM_001346022.3(USP45):c.1636A>T (p.Lys546Ter)	SNV	Uncertain Significance	638073	rs189281869	GRCh37: 6:99894012-99894012 GRCh38: 6:99446136-99446136
3	TSTD3, USP45	NM_001346022.3(USP45):c.2333A>G (p.Asn778Ser)	SNV	Benign	1684198		GRCh37: 6:99883704-99883704 GRCh38: 6:99435828-99435828
4	TSTD3, USP45	NM_001346022.3(USP45):c.1710A>G (p.Gly570=)	SNV	Benign	1684199		GRCh37: 6:99893938-99893938 GRCh38: 6:99446062-99446062
5	TSTD3, USP45	NM_001346022.3(USP45):c.1562G>C (p.Arg521Thr)	SNV	Benign	1684200		GRCh37: 6:99894086-99894086 GRCh38: 6:99446210-99446210
6	TSTD3, USP45	NM_001346022.3(USP45):c.1309-26_1309-22del	MICROSAT	Benign	1684201		GRCh37: 6:99894361-99894365 GRCh38: 6:99446485-99446489
7	TSTD3, USP45	NM_001346022.3(USP45):c.378-9C>T	SNV	Benign	1684202		GRCh37: 6:99951750-99951750 GRCh38: 6:99503874-99503874
8	TSTD3, USP45	NM_001346022.3(USP45):c.199A>G (p.Lys67Glu)	SNV	Benign	1684203		GRCh37: 6:99956560-99956560 GRCh38: 6:99508684-99508684

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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

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

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 Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

LCA19 MCID: LBR034 MIFTS: 20	Leber Congenital Amaurosis 19 (LCA19) Categories: Eye diseases, Genetic diseases, Neuronal diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Publications Symptoms & Phenotypes Expand all tables

Leber Congenital Amaurosis 19 (LCA19)

Aliases & Classifications for Leber Congenital Amaurosis 19

MalaCards integrated aliases for Leber Congenital Amaurosis 19:

Characteristics:

Inheritance:

OMIM®:

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

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 (2 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