LCA14
MCID: LBR009
MIFTS: 41

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 57 12 20 72 29 13 6 15 70
Lca14 57 12 20 72
Retinitis Pigmentosa, Juvenile, Lrat-Related 29 6
Retinal Dystrophy, Early-Onset Severe, Lrat-Related 6
Severe Early-Onset Retinal Dystrophy Lrat-Related 72
Retinitis Pigmentosa Juvenile Lrat-Related 72
Retinal Dystrophy, Early-Onset Severe 57
Leber Congenital Amaurosis, Type 14 39
Retinitis Pigmentosa, Juvenile 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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® 57 613341
OMIM Phenotypic Series 57 PS204000
MeSH 44 D057130
ICD10 32 H35.5
UMLS 70 C2750063

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) (Updated 20-May-2021)

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 Visual Cycle in Retinal Rods and the visual cycle I (vertebrates). Affiliated tissues include eye, retina and bone, 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 : 72 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 4 family:

Leber Congenital Amaurosis 1 Leber Congenital Amaurosis 2
Leber Congenital Amaurosis 3 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 47)
# Related Disease Score Top Affiliating Genes
1 severe early-childhood-onset retinal dystrophy 31.9 SPATA7 LRAT LCA5
2 leber congenital amaurosis 4 30.5 SPATA7 RDH12 LRAT LCA5 IQCB1 AIPL1
3 leber congenital amaurosis 3 30.3 SPATA7 RDH12 LRAT LCA5 IQCB1 AIPL1
4 stargardt disease 1 11.6
5 retinitis pigmentosa 14 11.2
6 retinal dystrophy, juvenile cataracts, and short stature syndrome 11.2
7 retinal ciliopathy 10.0 SPATA7 IQCB1
8 cone-rod dystrophy 13 10.0 SPATA7 IQCB1
9 cone-rod dystrophy 8 9.9 LCA5 AIPL1
10 joubert syndrome 3 9.9 SPATA7 IQCB1
11 choroidal dystrophy, central areolar, 1 9.8 SPATA7 AIPL1
12 microphthalmia, syndromic 9 9.8 RDH12 LRAT
13 pseudopapilledema 9.7 RDH12 AIPL1
14 pigmented paravenous chorioretinal atrophy 9.7 RDH12 AIPL1
15 nephronophthisis 9.6 SPATA7 LCA5 IQCB1
16 fundus albipunctatus 9.6 RDH12 LRAT
17 retinal disease 9.5 RDH12 LRAT AIPL1
18 leber congenital amaurosis 11 9.3 SPATA7 RDH12 LCA5 AIPL1
19 leber congenital amaurosis 7 9.3 SPATA7 RDH12 LCA5 AIPL1
20 leber congenital amaurosis 8 9.3 SPATA7 RDH12 LCA5 AIPL1
21 leber congenital amaurosis 6 9.3 SPATA7 RDH12 LCA5 AIPL1
22 usher syndrome, type iiia 9.3 RDH12 LRAT LCA5 AIPL1
23 pathologic nystagmus 9.3 SPATA7 RDH12 LCA5 AIPL1
24 retinal degeneration 9.3 SPATA7 RDH12 LRAT AIPL1
25 eye degenerative disease 9.3 RDH12 LRAT IQCB1 AIPL1
26 achromatopsia 9.3 SPATA7 RDH12 IQCB1 AIPL1
27 congenital stationary night blindness 9.2 RDH12 LRAT IQCB1 AIPL1
28 leber congenital amaurosis 5 9.1 SPATA7 RDH12 LRAT LCA5 AIPL1
29 leber congenital amaurosis 9 9.1 SPATA7 RDH12 LRAT LCA5 AIPL1
30 leber congenital amaurosis 2 9.1 SPATA7 RDH12 LRAT LCA5 AIPL1
31 stargardt disease 9.1 SPATA7 RDH12 LRAT LCA5 AIPL1
32 cone dystrophy 9.1 SPATA7 RDH12 LRAT LCA5 AIPL1
33 leber congenital amaurosis 12 9.1 SPATA7 RDH12 LCA5 KCNJ13 AIPL1
34 leber congenital amaurosis 16 9.1 SPATA7 RDH12 LCA5 KCNJ13 AIPL1
35 senior-loken syndrome 1 9.0 SPATA7 RDH12 LCA5 IQCB1 AIPL1
36 usher syndrome 9.0 RDH12 LRAT LCA5 IQCB1 AIPL1
37 bardet-biedl syndrome 9.0 SPATA7 RDH12 LCA5 IQCB1 AIPL1
38 joubert syndrome 1 9.0 SPATA7 RDH12 LCA5 IQCB1 AIPL1
39 keratoconus 8.8 SPATA7 RDH12 LRAT LCA5 IQCB1 AIPL1
40 cone-rod dystrophy 2 8.8 SPATA7 RDH12 LRAT LCA5 IQCB1 AIPL1
41 leber congenital amaurosis 15 8.8 SPATA7 RDH12 LCA5 KCNJ13 IQCB1 AIPL1
42 leber congenital amaurosis 13 8.8 SPATA7 RDH12 LCA5 KCNJ13 IQCB1 AIPL1
43 leber congenital amaurosis 10 8.8 SPATA7 RDH12 LCA5 KCNJ13 IQCB1 AIPL1
44 leber congenital amaurosis 1 8.6 SPATA7 RDH12 LRAT LCA5 KCNJ13 IQCB1
45 leber plus disease 8.6 SPATA7 RDH12 LRAT LCA5 KCNJ13 IQCB1
46 fundus dystrophy 8.5 SPATA7 RDH12 LRAT LCA5 KCNJ13 IQCB1
47 retinitis pigmentosa 8.5 SPATA7 RDH12 LRAT LCA5 KCNJ13 IQCB1

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 photophobia 31 HP:0000613
3 pallor 31 HP:0000980
4 reduced visual acuity 31 HP:0007663
5 nyctalopia 31 HP:0000662
6 rod-cone dystrophy 31 HP:0000510
7 optic disc pallor 31 HP:0000543
8 falls 31 HP:0002527
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®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
nystagmus
photophobia
optic disc pallor
decreased visual acuity
night blindness
more

Clinical features from OMIM®:

613341 (Updated 20-May-2021)

UMLS symptoms related to Leber Congenital Amaurosis 14:


photophobia

MGI Mouse Phenotypes related to Leber Congenital Amaurosis 14:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.02 AIPL1 LCA5 LRAT RDH12 SPATA7

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
Eye, Retina, Bone

Publications for Leber Congenital Amaurosis 14

Articles related to Leber Congenital Amaurosis 14:

# 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. 57 6
18055821 2007
2
Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosis. 57 6
17011878 2006
3
Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy. 57 6
11381255 2001
4
Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. 57
9326941 1997
5
Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies. 61
29053603 2017
6
Leber Congenital Amaurosis – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY 61
20301475 2004

Variations for Leber Congenital Amaurosis 14

ClinVar genetic disease variations for Leber Congenital Amaurosis 14:

6 (show top 50) (show all 88)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LRAT NM_004744.5(LRAT):c.525T>A (p.Ser175Arg) SNV Pathogenic 5334 rs104893848 GRCh37: 4:155666003-155666003
GRCh38: 4:154744851-154744851
2 LRAT NM_004744.5(LRAT):c.400_401del (p.Lys134fs) Deletion Pathogenic 5335 rs761717462 GRCh37: 4:155665875-155665876
GRCh38: 4:154744723-154744724
3 LRAT NM_004744.5(LRAT):c.217_218del (p.Met73fs) Deletion Pathogenic 5336 rs1560870755 GRCh37: 4:155665695-155665696
GRCh38: 4:154744543-154744544
4 LRAT NM_004744.5(LRAT):c.217_218del (p.Met73fs) Deletion Pathogenic 5336 rs1560870755 GRCh37: 4:155665695-155665696
GRCh38: 4:154744543-154744544
5 LRAT NC_000004.12:g.(?_154740841)_(154749136_?)del Deletion Pathogenic 978446 GRCh37:
GRCh38: 4:154740841-154749136
6 LRAT NM_004744.5(LRAT):c.554_555del (p.Val185fs) Microsatellite Pathogenic 978449 GRCh37: 4:155670147-155670148
GRCh38: 4:154748995-154748996
7 LRAT NM_004744.5(LRAT):c.149T>G (p.Val50Gly) SNV Likely pathogenic 978450 GRCh37: 4:155665627-155665627
GRCh38: 4:154744475-154744475
8 LRAT NM_004744.5(LRAT):c.299G>A (p.Gly100Asp) SNV Likely pathogenic 842208 GRCh37: 4:155665777-155665777
GRCh38: 4:154744625-154744625
9 LRAT NM_004744.5(LRAT):c.481T>C (p.Cys161Arg) SNV Likely pathogenic 978447 GRCh37: 4:155665959-155665959
GRCh38: 4:154744807-154744807
10 LRAT NM_004744.5(LRAT):c.487C>T (p.His163Tyr) SNV Likely pathogenic 978448 GRCh37: 4:155665965-155665965
GRCh38: 4:154744813-154744813
11 LRAT NM_004744.5(LRAT):c.*2453C>A SNV Uncertain significance 347873 rs886059171 GRCh37: 4:155672741-155672741
GRCh38: 4:154751589-154751589
12 LRAT NM_004744.5(LRAT):c.205C>T (p.Arg69Cys) SNV Uncertain significance 347848 rs775838916 GRCh37: 4:155665683-155665683
GRCh38: 4:154744531-154744531
13 LRAT NM_004744.5(LRAT):c.*2625A>G SNV Uncertain significance 347878 rs77071498 GRCh37: 4:155672913-155672913
GRCh38: 4:154751761-154751761
14 LRAT NM_004744.5(LRAT):c.80C>G (p.Ser27Trp) SNV Uncertain significance 899603 GRCh37: 4:155665558-155665558
GRCh38: 4:154744406-154744406
15 LRAT NM_004744.5(LRAT):c.*336C>T SNV Uncertain significance 899674 GRCh37: 4:155670624-155670624
GRCh38: 4:154749472-154749472
16 LRAT NM_004744.5(LRAT):c.*495C>T SNV Uncertain significance 899675 GRCh37: 4:155670783-155670783
GRCh38: 4:154749631-154749631
17 LRAT NM_004744.5(LRAT):c.*517G>A SNV Uncertain significance 899676 GRCh37: 4:155670805-155670805
GRCh38: 4:154749653-154749653
18 LRAT NM_004744.5(LRAT):c.*1390G>A SNV Uncertain significance 899736 GRCh37: 4:155671678-155671678
GRCh38: 4:154750526-154750526
19 LRAT NM_004744.5(LRAT):c.*1418C>G SNV Uncertain significance 899737 GRCh37: 4:155671706-155671706
GRCh38: 4:154750554-154750554
20 LRAT NM_004744.5(LRAT):c.*2458C>T SNV Uncertain significance 899798 GRCh37: 4:155672746-155672746
GRCh38: 4:154751594-154751594
21 LRAT NM_004744.5(LRAT):c.*3509C>A SNV Uncertain significance 899855 GRCh37: 4:155673797-155673797
GRCh38: 4:154752645-154752645
22 LRAT NM_004744.5(LRAT):c.364A>G (p.Ile122Val) SNV Uncertain significance 900735 GRCh37: 4:155665842-155665842
GRCh38: 4:154744690-154744690
23 LRAT NM_004744.5(LRAT):c.*561A>G SNV Uncertain significance 900814 GRCh37: 4:155670849-155670849
GRCh38: 4:154749697-154749697
24 LRAT NM_004744.5(LRAT):c.*624T>C SNV Uncertain significance 900815 GRCh37: 4:155670912-155670912
GRCh38: 4:154749760-154749760
25 LRAT NM_004744.5(LRAT):c.*1936G>C SNV Uncertain significance 900893 GRCh37: 4:155672224-155672224
GRCh38: 4:154751072-154751072
26 LRAT NM_004744.5(LRAT):c.*2064T>G SNV Uncertain significance 900894 GRCh37: 4:155672352-155672352
GRCh38: 4:154751200-154751200
27 LRAT NM_004744.5(LRAT):c.*2629G>A SNV Uncertain significance 900961 GRCh37: 4:155672917-155672917
GRCh38: 4:154751765-154751765
28 LRAT NM_004744.5(LRAT):c.*3714T>C SNV Uncertain significance 901031 GRCh37: 4:155674002-155674002
GRCh38: 4:154752850-154752850
29 LRAT NM_004744.5(LRAT):c.*3917A>G SNV Uncertain significance 901584 GRCh37: 4:155674205-155674205
GRCh38: 4:154753053-154753053
30 LRAT NM_004744.5(LRAT):c.476A>G (p.Asn159Ser) SNV Uncertain significance 902418 GRCh37: 4:155665954-155665954
GRCh38: 4:154744802-154744802
31 LRAT NM_004744.5(LRAT):c.519G>T (p.Pro173=) SNV Uncertain significance 902419 GRCh37: 4:155665997-155665997
GRCh38: 4:154744845-154744845
32 LRAT NM_004744.5(LRAT):c.*81T>C SNV Uncertain significance 902420 GRCh37: 4:155670369-155670369
GRCh38: 4:154749217-154749217
33 LRAT NM_004744.5(LRAT):c.*2222G>C SNV Uncertain significance 902562 GRCh37: 4:155672510-155672510
GRCh38: 4:154751358-154751358
34 LRAT NM_004744.5(LRAT):c.*2322C>T SNV Uncertain significance 902563 GRCh37: 4:155672610-155672610
GRCh38: 4:154751458-154751458
35 LRAT NM_004744.5(LRAT):c.*2347C>T SNV Uncertain significance 902564 GRCh37: 4:155672635-155672635
GRCh38: 4:154751483-154751483
36 LRAT NM_004744.5(LRAT):c.*2854A>G SNV Uncertain significance 902616 GRCh37: 4:155673142-155673142
GRCh38: 4:154751990-154751990
37 LRAT NM_004744.5(LRAT):c.*2855A>G SNV Uncertain significance 902617 GRCh37: 4:155673143-155673143
GRCh38: 4:154751991-154751991
38 LRAT NM_004744.5(LRAT):c.*3072G>T SNV Uncertain significance 902618 GRCh37: 4:155673360-155673360
GRCh38: 4:154752208-154752208
39 LRAT NM_004744.5(LRAT):c.-15C>T SNV Uncertain significance 903210 GRCh37: 4:155665361-155665361
GRCh38: 4:154744209-154744209
40 LRAT NM_004744.5(LRAT):c.*98C>A SNV Uncertain significance 903276 GRCh37: 4:155670386-155670386
GRCh38: 4:154749234-154749234
41 LRAT NM_004744.5(LRAT):c.*138C>A SNV Uncertain significance 899673 GRCh37: 4:155670426-155670426
GRCh38: 4:154749274-154749274
42 LRAT NM_004744.5(LRAT):c.*828G>C SNV Uncertain significance 903351 GRCh37: 4:155671116-155671116
GRCh38: 4:154749964-154749964
43 LRAT NM_004744.5(LRAT):c.*1120C>T SNV Uncertain significance 903352 GRCh37: 4:155671408-155671408
GRCh38: 4:154750256-154750256
44 LRAT NM_004744.5(LRAT):c.*2417G>A SNV Uncertain significance 903413 GRCh37: 4:155672705-155672705
GRCh38: 4:154751553-154751553
45 LRAT NM_004744.5(LRAT):c.*3081A>C SNV Uncertain significance 903464 GRCh37: 4:155673369-155673369
GRCh38: 4:154752217-154752217
46 LRAT NM_004744.5(LRAT):c.*3163C>T SNV Uncertain significance 903465 GRCh37: 4:155673451-155673451
GRCh38: 4:154752299-154752299
47 LRAT NM_004744.5(LRAT):c.*3213C>T SNV Uncertain significance 903466 GRCh37: 4:155673501-155673501
GRCh38: 4:154752349-154752349
48 LRAT NM_004744.5(LRAT):c.*3263C>T SNV Uncertain significance 903467 GRCh37: 4:155673551-155673551
GRCh38: 4:154752399-154752399
49 LRAT NM_004744.5(LRAT):c.*3980T>C SNV Uncertain significance 347893 rs191125324 GRCh37: 4:155674268-155674268
GRCh38: 4:154753116-154753116
50 LRAT NM_004744.5(LRAT):c.*1585T>G SNV Uncertain significance 347866 rs886059168 GRCh37: 4:155671873-155671873
GRCh38: 4:154750721-154750721

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

72
# 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

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

# Super pathways Score Top Affiliating Genes
1 11.13 RDH12 LRAT
2
Show member pathways
10.7 RDH12 LRAT
3 10.27 RDH12 LRAT

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 9.26 SPATA7 LCA5
2 photoreceptor outer segment GO:0001750 9.16 SPATA7 IQCB1
3 photoreceptor inner segment GO:0001917 8.96 RDH12 AIPL1
4 photoreceptor connecting cilium GO:0032391 8.8 SPATA7 LCA5 IQCB1

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 8.92 SPATA7 RDH12 LCA5 IQCB1

Sources for Leber Congenital Amaurosis 14

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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