MCID: LBR009
MIFTS: 36

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 54 12 50 71 29 13 69
Lca14 12 50 71
Severe Early-Onset Retinal Dystrophy Lrat-Related 71
Retinitis Pigmentosa, Juvenile, Lrat-Related 29
Retinitis Pigmentosa Juvenile Lrat-Related 71
Retinal Dystrophy, Early-Onset Severe 54
Retinitis Pigmentosa, Juvenile 54

Characteristics:

OMIM:

54
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 : 54
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 retinitis pigmentosa 14, and has symptoms including nystagmus, nyctalopia and reduced visual acuity. An important gene associated with Leber Congenital Amaurosis 14 is LRAT (Lecithin Retinol Acyltransferase (Phosphatidylcholine--Retinol O-Acyltransferase)), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and the visual cycle I (vertebrates). Affiliated tissues include retina, bone and eye.

UniProtKB/Swiss-Prot : 71 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

Diseases in the Leber Congenital Amaurosis family:

Leber Congenital Amaurosis 9 Leber Congenital Amaurosis 2
Leber Congenital Amaurosis 8 Leber Congenital Amaurosis 12
Leber Congenital Amaurosis 16 Leber Congenital Amaurosis 14
Leber Congenital Amaurosis 15 Leber Congenital Amaurosis 5
Leber Congenital Amaurosis 11 Leber Congenital Amaurosis 17
Leber Congenital Amaurosis 10 Leber Congenital Amaurosis 6
Leber Congenital Amaurosis 13 Leber Congenital Amaurosis 3
Leber Congenital Amaurosis 4 Leber Congenital Amaurosis 1
Leber Congenital Amaurosis 7 Aipl1-Related Leber Congenital Amaurosis
Cep290-Related Leber Congenital Amaurosis Crb1-Related Leber Congenital Amaurosis
Crx-Related Leber Congenital Amaurosis Gucy2d-Related Leber Congenital Amaurosis
Impdh1-Related Leber Congenital Amaurosis Iqcb1-Related Leber Congenital Amaurosis
Kcnj13-Related Leber Congenital Amaurosis Lca5-Related Leber Congenital Amaurosis
Lrat-Related Leber Congenital Amaurosis Nmnat1-Related Leber Congenital Amaurosis
Rd3-Related Leber Congenital Amaurosis Rdh12-Related Leber Congenital Amaurosis
Rpe65-Related Leber Congenital Amaurosis Rpgrip1-Related Leber Congenital Amaurosis
Spata7-Related Leber Congenital Amaurosis Tulp1-Related Leber Congenital Amaurosis

Diseases related to Leber Congenital Amaurosis 14 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
id Related Disease Score Top Affiliating Genes
1 stargardt disease 1 31.5 ABCA4 LRAT
2 retinitis pigmentosa 14 10.9
3 retinal dystrophy, juvenile cataracts, and short stature syndrome 10.9
4 leber congenital amaurosis 3 10.9
5 leber congenital amaurosis 4 10.9
6 autosomal recessive cerebral atrophy 9.7 ABCA4 LRAT
7 panic disorder 3 9.6 ABCA4 LRAT
8 tendinitis 9.5 ABCA4 LRAT
9 scar contracture 9.5 ABCA4 LRAT
10 impetigo 9.4 ABCA4 LRAT
11 limbal stem cell deficiency 9.2 ABCA4 LRAT

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:

54

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

Clinical features from OMIM:

613341

Human phenotypes related to Leber Congenital Amaurosis 14:

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

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:

id Genetic test Affiliating Genes
1 Leber Congenital Amaurosis 14 29
2 Retinitis Pigmentosa, Juvenile, Lrat-Related 29

Anatomical Context for Leber Congenital Amaurosis 14

MalaCards organs/tissues related to Leber Congenital Amaurosis 14:

39
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:

71
id Symbol AA change Variation ID SNP ID
1 LRAT p.Ser175Arg VAR_018386 rs104893848

ClinVar genetic disease variations for Leber Congenital Amaurosis 14:

6
id 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 LRAT, 2-BP DEL, 396AA deletion Pathogenic
3 LRAT LRAT, 2-BP DEL, 217AT deletion Pathogenic
4 ABCA4 NM_000350.2(ABCA4): c.1225delA (p.Arg409Glyfs) deletion Pathogenic rs387906387 GRCh37 Chromosome 1, 94544892: 94544892
5 ABCA4 NM_000350.2(ABCA4): c.6088C> T (p.Arg2030Ter) single nucleotide variant Pathogenic rs61751383 GRCh37 Chromosome 1, 94471056: 94471056

Expression for Leber Congenital Amaurosis 14

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

Pathways for Leber Congenital Amaurosis 14

Pathways related to Leber Congenital Amaurosis 14 according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.29 ABCA4 LRAT
2
Show member pathways
10.36 ABCA4 LRAT

GO Terms for Leber Congenital Amaurosis 14

Cellular components related to Leber Congenital Amaurosis 14 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 intracellular membrane-bounded organelle GO:0043231 8.62 ABCA4 LRAT

Biological processes related to Leber Congenital Amaurosis 14 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.16 ABCA4 LRAT
2 visual perception GO:0007601 8.96 ABCA4 LRAT
3 retinoid metabolic process GO:0001523 8.62 ABCA4 LRAT

Sources for Leber Congenital Amaurosis 14

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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