LCA19
MCID: LBR034
MIFTS: 20

Leber Congenital Amaurosis 19 (LCA19)

Categories: Eye diseases, Genetic diseases, Neuronal diseases
Data Licensing
For inquiries, contact:

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:



External Ids:

Disease Ontology 11 DOID:0081169
OMIM® 57 618513
OMIM Phenotypic Series 57 PS204000
MeSH 43 D057130

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.

Related Diseases for Leber Congenital Amaurosis 19

Symptoms & Phenotypes for Leber Congenital Amaurosis 19

Human phenotypes related to Leber Congenital Amaurosis 19:

30 (show all 6)
# Description HPO Frequency Orphanet 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)

Drugs & Therapeutics for Leber Congenital Amaurosis 19

Search Clinical Trials, NIH Clinical Center 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:

MalaCards : Retina

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
30573563 2019

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

Expression for Leber Congenital Amaurosis 19

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

Pathways for Leber Congenital Amaurosis 19

GO Terms for Leber Congenital Amaurosis 19

Sources for Leber Congenital Amaurosis 19

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....