LCA19
MCID: LBR034
MIFTS: 18

Leber Congenital Amaurosis 19 (LCA19)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Leber Congenital Amaurosis 19

MalaCards integrated aliases for Leber Congenital Amaurosis 19:

Name: Leber Congenital Amaurosis 19 57 73 6
Lca19 57 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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:



External Ids:

OMIM® 57 618513
OMIM Phenotypic Series 57 PS204000
MeSH 44 D057130

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® : 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 05-Mar-2021)

Related Diseases for Leber Congenital Amaurosis 19

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®:

57 (Updated 05-Mar-2021)
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 05-Mar-2021)

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

MalaCards organs/tissues related to Leber Congenital Amaurosis 19:

40
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. 6 57
30573563 2019

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 TSTD3 NM_001346022.3(USP45):c.935G>A (p.Arg312Gln) SNV Pathogenic 638072 rs202240410 6:99916493-99916493 6:99468617-99468617
2 TSTD3 NM_001346022.3(USP45):c.1636A>T (p.Lys546Ter) SNV Uncertain significance 638073 rs189281869 6:99894012-99894012 6:99446136-99446136

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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