MCID: LBR010
MIFTS: 23

Leber Congenital Amaurosis 15

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

Aliases & Classifications for Leber Congenital Amaurosis 15

MalaCards integrated aliases for Leber Congenital Amaurosis 15:

Name: Leber Congenital Amaurosis 15 57 12 53 75 29 13 6 15 73
Lca15 57 12 53 75
Leber Congenital Amaurosis, Type 15 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
leber congenital amaurosis 15:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Leber Congenital Amaurosis 15

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 (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 (Tubby Like Protein 1). Affiliated tissues include retina and eye, and related phenotypes are visual impairment and rod-cone dystrophy

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

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Leber Congenital Amaurosis 15:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 visual impairment 32 HP:0000505
2 rod-cone dystrophy 32 HP:0000510
3 hypermetropia 32 occasional (7.5%) HP:0000540
4 optic disc pallor 32 HP:0000543
5 myopia 32 HP:0000545
6 retinal degeneration 32 HP:0000546
7 abnormality of color vision 32 HP:0000551
8 pigmentary retinopathy 32 HP:0000580
9 nyctalopia 32 HP:0000662
10 constriction of peripheral visual field 32 HP:0001133
11 congenital nystagmus 32 HP:0006934
12 impaired smooth pursuit 32 HP:0007772
13 slow pupillary light response 32 HP:0030211

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:

41
Retina, Eye

Publications for Leber Congenital Amaurosis 15

Variations for Leber Congenital Amaurosis 15

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

75
# 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
(show all 12)
# 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
11 TULP1 NM_003322.5(TULP1): c.725_728delCCAA (p.Pro242Glnfs) deletion Pathogenic rs771723580 GRCh37 Chromosome 6, 35477080: 35477083
12 TULP1 NM_003322.5(TULP1): c.725_728delCCAA (p.Pro242Glnfs) deletion Pathogenic rs771723580 GRCh38 Chromosome 6, 35509303: 35509306

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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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