MCID: LBR009
MIFTS: 27

Leber Congenital Amaurosis 14

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

Aliases & Classifications for Leber Congenital Amaurosis 14

MalaCards integrated aliases for Leber Congenital Amaurosis 14:

Name: Leber Congenital Amaurosis 14 57 12 53 75 29 13 6 73
Lca14 57 12 53 75
Retinitis Pigmentosa, Juvenile, Lrat-Related 29 6
Retinal Dystrophy, Early-Onset Severe, Lrat-Related 6
Severe Early-Onset Retinal Dystrophy Lrat-Related 75
Retinitis Pigmentosa Juvenile Lrat-Related 75
Retinal Dystrophy, Early-Onset Severe 57
Leber Congenital Amaurosis, Type 14 40
Retinitis Pigmentosa, Juvenile 57

Characteristics:

OMIM:

57
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:

32
leber congenital amaurosis 14:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Leber Congenital Amaurosis 14

OMIM : 57 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 rod-cone dystrophy and optic disc pallor

UniProtKB/Swiss-Prot : 75 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.

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

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
photophobia
optic disc pallor
decreased visual acuity
night blindness
more

Clinical features from OMIM:

613341

Human phenotypes related to Leber Congenital Amaurosis 14:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 32 HP:0000510
2 optic disc pallor 32 HP:0000543
3 undetectable electroretinogram 32 HP:0000550
4 photophobia 32 HP:0000613
5 nystagmus 32 HP:0000639
6 decreased light- and dark-adapted electroretinogram amplitude 32 HP:0000654
7 nyctalopia 32 HP:0000662
8 pallor 32 HP:0000980
9 falls 32 HP:0002527
10 reduced visual acuity 32 HP:0007663
11 congenital blindness 32 HP:0007875

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 29 LRAT
2 Retinitis Pigmentosa, Juvenile, Lrat-Related 29

Anatomical Context for Leber Congenital Amaurosis 14

MalaCards organs/tissues related to Leber Congenital Amaurosis 14:

41
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:

75
# 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 LRAT, 2-BP DEL, 396AA deletion Pathogenic
4 LRAT LRAT, 2-BP DEL, 217AT 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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