LCA14
MCID: LBR009
MIFTS: 40

Leber Congenital Amaurosis 14 (LCA14)

Categories: Eye diseases, Genetic 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 56 12 52 73 29 13 6 15 71
Lca14 56 12 52 73
Retinitis Pigmentosa, Juvenile, Lrat-Related 29 6
Retinal Dystrophy, Early-Onset Severe, Lrat-Related 6
Severe Early-Onset Retinal Dystrophy Lrat-Related 73
Retinitis Pigmentosa Juvenile Lrat-Related 73
Retinal Dystrophy, Early-Onset Severe 56
Leber Congenital Amaurosis, Type 14 39
Retinitis Pigmentosa, Juvenile 56

Characteristics:

OMIM:

56
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:

31
leber congenital amaurosis 14:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110188
OMIM 56 613341
OMIM Phenotypic Series 56 PS204000
MeSH 43 D057130
ICD10 32 H35.5
UMLS 71 C2750063

Summaries for Leber Congenital Amaurosis 14

OMIM : 56 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 severe early-childhood-onset retinal dystrophy and leber congenital amaurosis 4, and has symptoms including photophobia An important gene associated with Leber Congenital Amaurosis 14 is LRAT (Lecithin Retinol Acyltransferase), and among its related pathways/superpathways are Drug metabolism - cytochrome P450 and Visual Cycle in Retinal Rods. Affiliated tissues include retina, eye and bone, and related phenotypes are nystagmus and rod-cone dystrophy

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

UniProtKB/Swiss-Prot : 73 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

Diseases in the Leber Congenital Amaurosis family:

Leber Congenital Amaurosis 1 Leber Congenital Amaurosis 2
Leber Congenital Amaurosis 3 Leber Congenital Amaurosis 4
Leber Congenital Amaurosis 5 Leber Congenital Amaurosis 9
Leber Congenital Amaurosis 12 Leber Congenital Amaurosis 10
Leber Congenital Amaurosis 13 Leber Congenital Amaurosis 14
Leber Congenital Amaurosis 6 Leber Congenital Amaurosis 7
Leber Congenital Amaurosis 8 Leber Congenital Amaurosis 11
Leber Congenital Amaurosis 15 Leber Congenital Amaurosis 16
Leber Congenital Amaurosis 17 Leber Congenital Amaurosis 19

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

(show all 43)
# Related Disease Score Top Affiliating Genes
1 severe early-childhood-onset retinal dystrophy 32.3 SPATA7 LRAT LCA5
2 leber congenital amaurosis 4 30.0 SPATA7 RDH12 LRAT LCA5 IMPDH1 AIPL1
3 leber congenital amaurosis 3 29.8 SPATA7 RDH12 LRAT LCA5 IMPDH1 AIPL1
4 bardet-biedl syndrome 27.8 SPATA7 RDH12 LCA5 IMPDH1 AIPL1
5 retinitis pigmentosa 26.7 SPATA7 RDH12 NMNAT1 LRAT LCA5 IMPDH1
6 stargardt disease 1 11.8
7 retinitis pigmentosa 14 11.4
8 retinal dystrophy, juvenile cataracts, and short stature syndrome 11.4
9 congenital nystagmus 10.0
10 neuroretinitis 10.0
11 retinitis 10.0
12 hereditary retinal dystrophy 9.8 SPATA7 RDH12
13 microphthalmia, syndromic 9 9.8 RDH12 LRAT
14 cone-rod dystrophy 8 9.6 LCA5 AIPL1
15 inherited retinal disorder 9.6 RDH12 LRAT LCA5
16 fundus albipunctatus 9.6 RDH12 LRAT
17 pseudopapilledema 9.6 RDH12 AIPL1
18 choroidal dystrophy, central areolar, 1 9.5 SPATA7 AIPL1
19 leber congenital amaurosis 16 9.4 SPATA7 LCA5 AIPL1
20 stargardt disease 9.0 RDH12 LRAT LCA5 AIPL1
21 congenital stationary night blindness 9.0 RDH12 LRAT LCA5 AIPL1
22 achromatopsia 9.0 SPATA7 RDH12 NMNAT1 AIPL1
23 retinal disease 8.9 RDH12 LRAT IMPDH1 AIPL1
24 leber congenital amaurosis 13 8.8 SPATA7 RDH12 LRAT LCA5 AIPL1
25 leber congenital amaurosis 11 8.6 SPATA7 RDH12 LCA5 IMPDH1 AIPL1
26 leber congenital amaurosis 7 8.6 SPATA7 RDH12 LCA5 IMPDH1 AIPL1
27 leber congenital amaurosis 8 8.6 SPATA7 RDH12 LCA5 IMPDH1 AIPL1
28 usher syndrome, type iiia 8.6 RDH12 LRAT LCA5 IMPDH1 AIPL1
29 leber congenital amaurosis 10 8.6 SPATA7 RDH12 LCA5 IMPDH1 AIPL1
30 senior-loken syndrome 1 8.6 SPATA7 RDH12 LCA5 IMPDH1 AIPL1
31 leber congenital amaurosis 6 8.4 SPATA7 RDH12 LRAT LCA5 IMPDH1 AIPL1
32 leber congenital amaurosis 5 8.4 SPATA7 RDH12 LRAT LCA5 IMPDH1 AIPL1
33 leber congenital amaurosis 2 8.4 SPATA7 RDH12 LRAT LCA5 IMPDH1 AIPL1
34 joubert syndrome 1 8.3 SPATA7 RDH12 LRAT LCA5 IMPDH1 AIPL1
35 leber congenital amaurosis 12 8.3 SPATA7 RDH12 NMNAT1 LCA5 IMPDH1 AIPL1
36 retinal degeneration 8.2 SPATA7 RDH12 NMNAT1 LRAT IMPDH1 AIPL1
37 pathologic nystagmus 8.2 SPATA7 RDH12 NMNAT1 LCA5 IMPDH1 AIPL1
38 leber congenital amaurosis 8.0 SPATA7 RDH12 NMNAT1 LRAT LCA5 IMPDH1
39 leber congenital amaurosis 1 8.0 SPATA7 RDH12 NMNAT1 LRAT LCA5 IMPDH1
40 leber congenital amaurosis 15 8.0 SPATA7 RDH12 NMNAT1 LRAT LCA5 IMPDH1
41 leber congenital amaurosis 9 8.0 SPATA7 RDH12 NMNAT1 LRAT LCA5 IMPDH1
42 keratoconus 7.9 SPATA7 RDH12 NMNAT1 LRAT LCA5 IMPDH1
43 fundus dystrophy 7.9 SPATA7 RDH12 NMNAT1 LRAT LCA5 IMPDH1

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:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 HP:0000639
2 rod-cone dystrophy 31 HP:0000510
3 nyctalopia 31 HP:0000662
4 photophobia 31 HP:0000613
5 pallor 31 HP:0000980
6 falls 31 HP:0002527
7 reduced visual acuity 31 HP:0007663
8 optic disc pallor 31 HP:0000543
9 congenital blindness 31 HP:0007875
10 decreased light- and dark-adapted electroretinogram amplitude 31 HP:0000654
11 undetectable electroretinogram 31 HP:0000550

Symptoms via clinical synopsis from OMIM:

56
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

MGI Mouse Phenotypes related to Leber Congenital Amaurosis 14:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.43 AIPL1 LCA5 LRAT NMNAT1 RDH12 SPATA7
2 vision/eye MP:0005391 9.17 AIPL1 IMPDH1 LCA5 LRAT NMNAT1 RDH12

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:

40
Retina, Eye, Bone

Publications for Leber Congenital Amaurosis 14

Articles related to Leber Congenital Amaurosis 14:

(show all 12)
# Title Authors PMID Year
1
Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays. 56 6
18055821 2007
2
Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosis. 56 6
17011878 2006
3
Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy. 56 6
11381255 2001
4
Leber Congenital Amaurosis 61 6
20301475 2004
5
Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview 6
30285347 2018
6
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. 6
23105016 2013
7
Genetics and molecular basis of human peroxisome biogenesis disorders. 6
22871920 2012
8
Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotype. 6
10384394 1999
9
Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. 6
9398847 1997
10
Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders. 6
9398848 1997
11
Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. 56
9326941 1997
12
Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies. 61
29053603 2017

Variations for Leber Congenital Amaurosis 14

ClinVar genetic disease variations for Leber Congenital Amaurosis 14:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LRAT NM_004744.5(LRAT):c.525T>A (p.Ser175Arg)SNV Pathogenic 5334 rs104893848 4:155666003-155666003 4:154744851-154744851
2 LRAT NM_004744.5(LRAT):c.400_401del (p.Lys134fs)deletion Pathogenic 5335 rs761717462 4:155665875-155665876 4:154744723-154744724
3 LRAT NM_004744.5(LRAT):c.217_218del (p.Met73fs)deletion Pathogenic 5336 rs1560870755 4:155665695-155665696 4:154744543-154744544

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

73
# Symbol AA change Variation ID SNP ID
1 LRAT p.Ser175Arg VAR_018386 rs104893848

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

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

# Name GO ID Score Top Affiliating Genes
1 axoneme GO:0005930 9.16 SPATA7 LCA5
2 photoreceptor inner segment GO:0001917 8.96 RDH12 AIPL1
3 photoreceptor connecting cilium GO:0032391 8.62 SPATA7 LCA5

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

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.46 SPATA7 RDH12 LRAT AIPL1
2 retinoid metabolic process GO:0001523 9.32 RDH12 LRAT
3 retinol metabolic process GO:0042572 9.26 RDH12 LRAT
4 visual perception GO:0007601 9.26 SPATA7 RDH12 LRAT AIPL1
5 photoreceptor cell maintenance GO:0045494 8.8 SPATA7 RDH12 LCA5

Sources for Leber Congenital Amaurosis 14

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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