LCA15
MCID: LBR010
MIFTS: 24

Leber Congenital Amaurosis 15 (LCA15)

Categories: Eye diseases, Genetic diseases, Metabolic 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 58 12 54 76 30 13 6 15 74
Lca15 58 12 54 76
Leber Congenital Amaurosis, Type 15 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
leber congenital amaurosis 15:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Leber Congenital Amaurosis 15

OMIM : 58 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, is also known as lca15. An important gene associated with Leber Congenital Amaurosis 15 is TULP1 (TUB Like Protein 1). Affiliated tissues include retina and eye, and related phenotypes are hypermetropia and retinopathy

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

UniProtKB/Swiss-Prot : 76 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

Symptoms & Phenotypes for Leber Congenital Amaurosis 15

Human phenotypes related to Leber Congenital Amaurosis 15:

33 (show all 13)
# Description HPO Frequency HPO Source Accession
1 hypermetropia 33 occasional (7.5%) HP:0000540
2 retinopathy 33 HP:0000488
3 myopia 33 HP:0000545
4 nyctalopia 33 HP:0000662
5 rod-cone dystrophy 33 HP:0000510
6 optic disc pallor 33 HP:0000543
7 constriction of peripheral visual field 33 HP:0001133
8 pigmentary retinopathy 33 HP:0000580
9 congenital nystagmus 33 HP:0006934
10 retinal degeneration 33 HP:0000546
11 impaired smooth pursuit 33 HP:0007772
12 slow pupillary light response 33 HP:0030211
13 color vision defect 33 HP:0000551

Symptoms via clinical synopsis from OMIM:

58
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

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 30 TULP1

Anatomical Context for Leber Congenital Amaurosis 15

MalaCards organs/tissues related to Leber Congenital Amaurosis 15:

42
Retina, Eye

Publications for Leber Congenital Amaurosis 15

Articles related to Leber Congenital Amaurosis 15:

# Title Authors Year
1
Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration. ( 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. ( 15024725 )
2004
3
Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa. ( 9462750 )
1998

Variations for Leber Congenital Amaurosis 15

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

76
# Symbol AA change Variation ID SNP ID
1 TULP1 p.Gly368Trp VAR_065500 rs387906837
2 TULP1 p.Arg400Trp VAR_065501 rs387906836

ClinVar genetic disease variations for Leber Congenital Amaurosis 15:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TULP1 TULP1, IVS2DS, G-A, +1 single nucleotide variant Pathogenic
2 TULP1 NM_003322.5(TULP1): c.1204G> T (p.Glu402Ter) single nucleotide variant Pathogenic rs387906835 GRCh37 Chromosome 6, 35471534: 35471534
3 TULP1 NM_003322.5(TULP1): c.1204G> T (p.Glu402Ter) single nucleotide variant Pathogenic rs387906835 GRCh38 Chromosome 6, 35503757: 35503757
4 TULP1 NM_003322.5(TULP1): c.1198C> T (p.Arg400Trp) single nucleotide variant Pathogenic rs387906836 GRCh37 Chromosome 6, 35471540: 35471540
5 TULP1 NM_003322.5(TULP1): c.1198C> T (p.Arg400Trp) single nucleotide variant Pathogenic rs387906836 GRCh38 Chromosome 6, 35503763: 35503763
6 TULP1 NM_003322.5(TULP1): c.1102G> T (p.Gly368Trp) single nucleotide variant Pathogenic rs387906837 GRCh37 Chromosome 6, 35473528: 35473528
7 TULP1 NM_003322.5(TULP1): c.1102G> T (p.Gly368Trp) single nucleotide variant Pathogenic rs387906837 GRCh38 Chromosome 6, 35505751: 35505751
8 TULP1 TULP1, 6-BP DUP, NT1593 duplication Pathogenic
9 TULP1 NM_003322.5(TULP1): c.1495+1G> A single nucleotide variant Pathogenic rs281865168 GRCh37 Chromosome 6, 35467757: 35467757
10 TULP1 NM_003322.5(TULP1): c.1495+1G> A single nucleotide variant Pathogenic rs281865168 GRCh38 Chromosome 6, 35499980: 35499980

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 cell projection GO:0042995 8.62 HTR2A TULP1

Sources for Leber Congenital Amaurosis 15

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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