LCA15
MCID: LBR010
MIFTS: 39

Leber Congenital Amaurosis 15 (LCA15)

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

Aliases & Classifications for Leber Congenital Amaurosis 15

MalaCards integrated aliases for Leber Congenital Amaurosis 15:

Name: Leber Congenital Amaurosis 15 56 12 52 73 29 13 6 15 71
Lca15 56 12 52 73
Leber Congenital Amaurosis, Type 15 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
leber congenital amaurosis 15:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110189
OMIM 56 613843
OMIM Phenotypic Series 56 PS204000
MeSH 43 D057130
ICD10 32 H35.5
MedGen 41 C3151206
UMLS 71 C3151206

Summaries for Leber Congenital Amaurosis 15

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 (summary by Gu et al., 1997). Mutation in TULP1 can also cause a form of autosomal recessive retinitis pigmentosa (RP14; 600132). For a general phenotypic description and a discussion of the genetic heterogeneity of Leber congenital amaurosis, see LCA1 (204000); for retinitis pigmentosa, see 268000. (613843)

MalaCards based summary : Leber Congenital Amaurosis 15, also known as lca15, is related to pseudoretinitis pigmentosa and hereditary retinal dystrophy. An important gene associated with Leber Congenital Amaurosis 15 is TULP1 (TUB Like Protein 1), and among its related pathways/superpathways are Drug metabolism - cytochrome P450 and the visual cycle I (vertebrates). Affiliated tissues include retina and eye, and related phenotypes are hypermetropia and retinal degeneration

Disease Ontology : 12 A Leber congenital amaurosis that has material basis in mutation in the TULP1 gene on chromosome 6p21.3.

UniProtKB/Swiss-Prot : 73 Leber congenital amaurosis 15: 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 15

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 15 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
# Related Disease Score Top Affiliating Genes
1 pseudoretinitis pigmentosa 10.0 TULP1 IMPDH1
2 hereditary retinal dystrophy 10.0 SPATA7 RDH12
3 cone-rod dystrophy 8 9.8 LCA5 AIPL1
4 usher syndrome 9.8 TULP1 RDH12 LCA5
5 microphthalmia, syndromic 9 9.8 RDH12 LRAT
6 pseudopapilledema 9.8 RDH12 AIPL1
7 choroidal dystrophy, central areolar, 1 9.8 SPATA7 AIPL1
8 enhanced s-cone syndrome 9.8 TULP1 AIPL1
9 severe early-childhood-onset retinal dystrophy 9.7 SPATA7 LRAT LCA5
10 fundus albipunctatus 9.7 TULP1 RDH12 LRAT
11 leber congenital amaurosis 16 9.6 SPATA7 LCA5 AIPL1
12 inherited retinal disorder 9.6 RDH12 LRAT LCA5
13 eye disease 9.3 TULP1 RDH12 AIPL1
14 leber congenital amaurosis 11 9.0 SPATA7 RDH12 LCA5 IMPDH1 AIPL1
15 stargardt disease 9.0 TULP1 RDH12 LRAT LCA5 AIPL1
16 congenital stationary night blindness 8.9 TULP1 RDH12 LRAT LCA5 AIPL1
17 cone-rod dystrophy 2 8.9 TULP1 NMNAT1 AIPL1
18 retinal disease 8.8 TULP1 RDH12 LRAT IMPDH1 AIPL1
19 achromatopsia 8.7 TULP1 SPATA7 RDH12 NMNAT1 AIPL1
20 leber congenital amaurosis 8 8.7 TULP1 SPATA7 RDH12 LCA5 IMPDH1 AIPL1
21 leber congenital amaurosis 7 8.7 TULP1 SPATA7 RDH12 LCA5 IMPDH1 AIPL1
22 leber congenital amaurosis 13 8.7 TULP1 SPATA7 RDH12 LRAT LCA5 AIPL1
23 leber congenital amaurosis 10 8.7 TULP1 SPATA7 RDH12 LCA5 IMPDH1 AIPL1
24 senior-loken syndrome 1 8.7 TULP1 SPATA7 RDH12 LCA5 IMPDH1 AIPL1
25 bardet-biedl syndrome 8.7 TULP1 SPATA7 RDH12 LCA5 IMPDH1 AIPL1
26 usher syndrome, type iiia 8.6 TULP1 RDH12 LRAT LCA5 IMPDH1 AIPL1
27 leber congenital amaurosis 12 8.4 SPATA7 RDH12 NMNAT1 LCA5 IMPDH1 AIPL1
28 leber congenital amaurosis 6 8.3 TULP1 SPATA7 RDH12 LRAT LCA5 IMPDH1
29 leber congenital amaurosis 5 8.3 TULP1 SPATA7 RDH12 LRAT LCA5 IMPDH1
30 leber congenital amaurosis 4 8.3 TULP1 SPATA7 RDH12 LRAT LCA5 IMPDH1
31 leber congenital amaurosis 3 8.3 TULP1 SPATA7 RDH12 LRAT LCA5 IMPDH1
32 leber congenital amaurosis 2 8.3 TULP1 SPATA7 RDH12 LRAT LCA5 IMPDH1
33 joubert syndrome 1 8.3 TULP1 SPATA7 RDH12 LRAT LCA5 IMPDH1
34 pathologic nystagmus 8.1 TULP1 SPATA7 RDH12 NMNAT1 LCA5 IMPDH1
35 retinal degeneration 8.0 TULP1 SPATA7 RDH12 NMNAT1 LRAT IMPDH1
36 leber congenital amaurosis 14 8.0 SPATA7 RDH12 NMNAT1 LRAT LCA5 IMPDH1
37 leber congenital amaurosis 7.7 TULP1 SPATA7 RDH12 NMNAT1 LRAT LCA5
38 leber congenital amaurosis 1 7.7 TULP1 SPATA7 RDH12 NMNAT1 LRAT LCA5
39 keratoconus 7.7 TULP1 SPATA7 RDH12 NMNAT1 LRAT LCA5
40 leber congenital amaurosis 9 7.7 TULP1 SPATA7 RDH12 NMNAT1 LRAT LCA5
41 fundus dystrophy 7.7 TULP1 SPATA7 RDH12 NMNAT1 LRAT LCA5
42 retinitis pigmentosa 7.6 TULP1 SPATA7 RDH12 NMNAT1 LRAT LCA5

Graphical network of the top 20 diseases related to Leber Congenital Amaurosis 15:



Diseases related to Leber Congenital Amaurosis 15

Symptoms & Phenotypes for Leber Congenital Amaurosis 15

Human phenotypes related to Leber Congenital Amaurosis 15:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 hypermetropia 31 occasional (7.5%) HP:0000540
2 retinal degeneration 31 HP:0000546
3 rod-cone dystrophy 31 HP:0000510
4 nyctalopia 31 HP:0000662
5 retinopathy 31 HP:0000488
6 myopia 31 HP:0000545
7 optic disc pallor 31 HP:0000543
8 constriction of peripheral visual field 31 HP:0001133
9 pigmentary retinopathy 31 HP:0000580
10 congenital nystagmus 31 HP:0006934
11 impaired smooth pursuit 31 HP:0007772
12 slow pupillary light response 31 HP:0030211
13 color vision defect 31 HP:0000551

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
myopia
night blindness
hyperopia (in some patients)
poor vision at birth
vision loss, progressive, during childhood or adolescence
more

Clinical features from OMIM:

613843

MGI Mouse Phenotypes related to Leber Congenital Amaurosis 15:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.7 AIPL1 LCA5 LRAT NMNAT1 RDH12 SPATA7
2 vision/eye MP:0005391 9.23 AIPL1 IMPDH1 LCA5 LRAT NMNAT1 RDH12
3 pigmentation MP:0001186 9.13 LCA5 NMNAT1 TULP1

Drugs & Therapeutics for Leber Congenital Amaurosis 15

Search Clinical Trials , NIH Clinical Center for Leber Congenital Amaurosis 15

Genetic Tests for Leber Congenital Amaurosis 15

Genetic tests related to Leber Congenital Amaurosis 15:

# Genetic test Affiliating Genes
1 Leber Congenital Amaurosis 15 29 TULP1

Anatomical Context for Leber Congenital Amaurosis 15

MalaCards organs/tissues related to Leber Congenital Amaurosis 15:

40
Retina, Eye

Publications for Leber Congenital Amaurosis 15

Articles related to Leber Congenital Amaurosis 15:

(show all 12)
# Title Authors PMID Year
1
Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration. 56 6
17962469 2007
2
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. 56 6
15024725 2004
3
Leber Congenital Amaurosis 61 6
20301475 2004
4
Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview 6
30285347 2018
5
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. 6
23105016 2013
6
Genetics and molecular basis of human peroxisome biogenesis disorders. 6
22871920 2012
7
Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays. 56
18055821 2007
8
Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotype. 6
10384394 1999
9
Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa. 6
9462750 1998
10
Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. 6
9398847 1997
11
Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders. 6
9398848 1997
12
Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. 56
9326941 1997

Variations for Leber Congenital Amaurosis 15

ClinVar genetic disease variations for Leber Congenital Amaurosis 15:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TULP1 TULP1, IVS2DS, G-A, +1SNV Pathogenic 7360
2 TULP1 NM_003322.6(TULP1):c.1204G>T (p.Glu402Ter)SNV Pathogenic 30260 rs387906835 6:35471534-35471534 6:35503757-35503757
3 TULP1 NM_003322.6(TULP1):c.1198C>T (p.Arg400Trp)SNV Pathogenic 30261 rs387906836 6:35471540-35471540 6:35503763-35503763
4 TULP1 NM_003322.6(TULP1):c.1102G>T (p.Gly368Trp)SNV Pathogenic 30262 rs387906837 6:35473528-35473528 6:35505751-35505751
5 TULP1 TULP1, 6-BP DUP, NT1593duplication Pathogenic 30263
6 TULP1 NM_003322.6(TULP1):c.1495+1G>ASNV Pathogenic 99665 rs281865168 6:35467757-35467757 6:35499980-35499980

UniProtKB/Swiss-Prot genetic disease variations for Leber Congenital Amaurosis 15:

73
# Symbol AA change Variation ID SNP ID
1 TULP1 p.Gly368Trp VAR_065500 rs387906837
2 TULP1 p.Arg400Trp VAR_065501 rs387906836

Expression for Leber Congenital Amaurosis 15

Search GEO for disease gene expression data for Leber Congenital Amaurosis 15.

Pathways for Leber Congenital Amaurosis 15

GO Terms for Leber Congenital Amaurosis 15

Cellular components related to Leber Congenital Amaurosis 15 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.87 TULP1 SPATA7 NMNAT1 LRAT LCA5 IMPDH1
2 axoneme GO:0005930 9.26 SPATA7 LCA5
3 photoreceptor outer segment GO:0001750 9.16 TULP1 SPATA7
4 photoreceptor connecting cilium GO:0032391 8.96 SPATA7 LCA5
5 photoreceptor inner segment GO:0001917 8.8 TULP1 RDH12 AIPL1

Biological processes related to Leber Congenital Amaurosis 15 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.55 TULP1 SPATA7 RDH12 LRAT AIPL1
2 retinoid metabolic process GO:0001523 9.4 RDH12 LRAT
3 retinol metabolic process GO:0042572 9.37 RDH12 LRAT
4 visual perception GO:0007601 9.35 TULP1 SPATA7 RDH12 LRAT AIPL1
5 retina homeostasis GO:0001895 9.32 TULP1 AIPL1
6 protein localization to photoreceptor outer segment GO:1903546 9.26 TULP1 SPATA7
7 photoreceptor cell maintenance GO:0045494 8.92 TULP1 SPATA7 RDH12 LCA5

Sources for Leber Congenital Amaurosis 15

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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