LCA14
MCID: LBR009
MIFTS: 27

Leber Congenital Amaurosis 14 (LCA14)

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

Aliases & Classifications for Leber Congenital Amaurosis 14

MalaCards integrated aliases for Leber Congenital Amaurosis 14:

Name: Leber Congenital Amaurosis 14 58 12 54 76 30 13 6 74
Lca14 58 12 54 76
Retinitis Pigmentosa, Juvenile, Lrat-Related 30 6
Retinal Dystrophy, Early-Onset Severe, Lrat-Related 6
Severe Early-Onset Retinal Dystrophy Lrat-Related 76
Retinitis Pigmentosa Juvenile Lrat-Related 76
Retinal Dystrophy, Early-Onset Severe 58
Leber Congenital Amaurosis, Type 14 41
Retinitis Pigmentosa, Juvenile 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
ocular phenotype falls within a spectrum of retinal dystrophy from severe, leber congenital amaurosis, to less severe, juvenile retinitis pigmentosa


HPO:

33
leber congenital amaurosis 14:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Leber Congenital Amaurosis 14

OMIM : 58 Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis, whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa (Gu et al., 1997). For a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis, see LCA1 (204000); for retinitis pigmentosa, see 268000. (613341)

MalaCards based summary : Leber Congenital Amaurosis 14, also known as lca14, is related to stargardt disease 1 and severe early-childhood-onset retinal dystrophy, and has symptoms including photophobia An important gene associated with Leber Congenital Amaurosis 14 is LRAT (Lecithin Retinol Acyltransferase). Affiliated tissues include retina, bone and eye, and related phenotypes are nystagmus and photophobia

Disease Ontology : 12 A Leber congenital amaurosis that has material basis in mutation in the LRAT gene on chromosome 4q31.

UniProtKB/Swiss-Prot : 76 Leber congenital amaurosis 14: 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.

Related Diseases for Leber Congenital Amaurosis 14

Graphical network of the top 20 diseases related to Leber Congenital Amaurosis 14:



Diseases related to Leber Congenital Amaurosis 14

Symptoms & Phenotypes for Leber Congenital Amaurosis 14

Human phenotypes related to Leber Congenital Amaurosis 14:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 nystagmus 33 HP:0000639
2 photophobia 33 HP:0000613
3 pallor 33 HP:0000980
4 falls 33 HP:0002527
5 reduced visual acuity 33 HP:0007663
6 nyctalopia 33 HP:0000662
7 rod-cone dystrophy 33 HP:0000510
8 optic disc pallor 33 HP:0000543
9 congenital blindness 33 HP:0007875
10 decreased light- and dark-adapted electroretinogram amplitude 33 HP:0000654
11 undetectable electroretinogram 33 HP:0000550

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
photophobia
optic disc pallor
decreased visual acuity
night blindness
more

Clinical features from OMIM:

613341

UMLS symptoms related to Leber Congenital Amaurosis 14:


photophobia

Drugs & Therapeutics for Leber Congenital Amaurosis 14

Search Clinical Trials , NIH Clinical Center for Leber Congenital Amaurosis 14

Genetic Tests for Leber Congenital Amaurosis 14

Genetic tests related to Leber Congenital Amaurosis 14:

# Genetic test Affiliating Genes
1 Leber Congenital Amaurosis 14 30 LRAT
2 Retinitis Pigmentosa, Juvenile, Lrat-Related 30

Anatomical Context for Leber Congenital Amaurosis 14

MalaCards organs/tissues related to Leber Congenital Amaurosis 14:

42
Retina, Bone, Eye

Publications for Leber Congenital Amaurosis 14

Variations for Leber Congenital Amaurosis 14

UniProtKB/Swiss-Prot genetic disease variations for Leber Congenital Amaurosis 14:

76
# Symbol AA change Variation ID SNP ID
1 LRAT p.Ser175Arg VAR_018386 rs104893848

ClinVar genetic disease variations for Leber Congenital Amaurosis 14:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LRAT NM_004744.4(LRAT): c.525T> A (p.Ser175Arg) single nucleotide variant Pathogenic rs104893848 GRCh37 Chromosome 4, 155666003: 155666003
2 LRAT NM_004744.4(LRAT): c.525T> A (p.Ser175Arg) single nucleotide variant Pathogenic rs104893848 GRCh38 Chromosome 4, 154744851: 154744851
3 LRAT NM_004744.4: c.400_401delAA deletion Pathogenic
4 LRAT NM_004744.4: c.217_218delAT deletion Pathogenic

Expression for Leber Congenital Amaurosis 14

Search GEO for disease gene expression data for Leber Congenital Amaurosis 14.

Pathways for Leber Congenital Amaurosis 14

GO Terms for Leber Congenital Amaurosis 14

Sources for Leber Congenital Amaurosis 14

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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