LCA19
MCID: LBR034
MIFTS: 21

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 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:



External Ids:

OMIM 56 618513
OMIM Phenotypic Series 56 PS204000
MeSH 43 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, also known as lca19, is related to leber congenital amaurosis. An important gene associated with Leber Congenital Amaurosis 19 is USP45 (Ubiquitin Specific Peptidase 45). Affiliated tissues include retina and eye, 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)

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 retinal degeneration 31 HP:0000546
4 visual impairment 31 HP:0000505
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

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, Eye

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. 56 6
30573563 2019
2
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. 6
23105016 2013
3
Genetics and molecular basis of human peroxisome biogenesis disorders. 6
22871920 2012
4
Leber Congenital Amaurosis 6
20301475 2004
5
Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotype. 6
10384394 1999
6
Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. 6
9398847 1997
7
Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders. 6
9398848 1997

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_001346024.2(USP45):c.934-3481G>ASNV Pathogenic 638072 6:99916493-99916493 6:99468617-99468617

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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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