MCID: LBR029
MIFTS: 20

Leber Congenital Amaurosis 17

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

Aliases & Classifications for Leber Congenital Amaurosis 17

MalaCards integrated aliases for Leber Congenital Amaurosis 17:

Name: Leber Congenital Amaurosis 17 53 12 71 28 14 69
Lca17 53 12 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
clinically unaffected heterozygotes may show changes on electroretinography
clinical features based on 1 reported family (last curated august 2013)


HPO:

31
leber congenital amaurosis 17:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 615360
Disease Ontology 12 DOID:0110217
ICD10 32 H35.5
MeSH 41 D057130
SNOMED-CT via HPO 65 258211005
UMLS 69 C3715164

Summaries for Leber Congenital Amaurosis 17

UniProtKB/Swiss-Prot : 71 Leber congenital amaurosis 17: 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 almost absent pupillary responses, photophobia, high hyperopia and keratoconus.

MalaCards based summary : Leber Congenital Amaurosis 17, is also known as lca17. An important gene associated with Leber Congenital Amaurosis 17 is GDF6 (Growth Differentiation Factor 6), and among its related pathways/superpathways are p70S6K Signaling and G-protein signaling_Rap2B regulation pathway. Affiliated tissues include retina and eye.

Disease Ontology : 12 A Leber congenital amaurosis that has material basis in mutation in the GDF6 gene on chromosome 8q22.

Description from OMIM: 615360

Related Diseases for Leber Congenital Amaurosis 17

Symptoms & Phenotypes for Leber Congenital Amaurosis 17

Symptoms via clinical synopsis from OMIM:

53
HeadAndNeckEyes:
vision limited to detection of hand motion
extinguished responses on electroretinography


Clinical features from OMIM:

615360

Drugs & Therapeutics for Leber Congenital Amaurosis 17

Search Clinical Trials , NIH Clinical Center for Leber Congenital Amaurosis 17

Genetic Tests for Leber Congenital Amaurosis 17

Genetic tests related to Leber Congenital Amaurosis 17:

# Genetic test Affiliating Genes
1 Leber Congenital Amaurosis 17 28 GDF6

Anatomical Context for Leber Congenital Amaurosis 17

MalaCards organs/tissues related to Leber Congenital Amaurosis 17:

38
Retina, Eye

Publications for Leber Congenital Amaurosis 17

Variations for Leber Congenital Amaurosis 17

UniProtKB/Swiss-Prot genetic disease variations for Leber Congenital Amaurosis 17:

71
# Symbol AA change Variation ID SNP ID
1 GDF6 p.Ala249Glu VAR_046903 rs121909352
2 GDF6 p.Ala199Thr VAR_065151 rs387906794
3 GDF6 p.Asp57His VAR_070254 rs397514725
4 GDF6 p.Glu292Asp VAR_070255

ClinVar genetic disease variations for Leber Congenital Amaurosis 17:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GDF6 NM_001001557.3(GDF6): c.595G> A (p.Ala199Thr) single nucleotide variant Pathogenic rs387906794 GRCh37 Chromosome 8, 97157564: 97157564
2 GDF6 NM_001001557.3: c.876G> Y single nucleotide variant Pathogenic
3 GDF6 NM_001001557.3(GDF6): c.169G> C (p.Asp57His) single nucleotide variant Pathogenic rs397514725 GRCh37 Chromosome 8, 97172752: 97172752

Expression for Leber Congenital Amaurosis 17

Search GEO for disease gene expression data for Leber Congenital Amaurosis 17.

Pathways for Leber Congenital Amaurosis 17

Pathways related to Leber Congenital Amaurosis 17 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.84 EPHA5 GDF6
2 9.53 EPHA5 GDF6

GO Terms for Leber Congenital Amaurosis 17

Sources for Leber Congenital Amaurosis 17

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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