MCID: LBR029
MIFTS: 20

Leber Congenital Amaurosis 17

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

Aliases & Classifications for Leber Congenital Amaurosis 17

MalaCards integrated aliases for Leber Congenital Amaurosis 17:

Name: Leber Congenital Amaurosis 17 57 12 75 29 6 15 73
Lca17 57 12 75
Leber Congenital Amaurosis, Type 17 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
leber congenital amaurosis 17:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 615360
Disease Ontology 12 DOID:0110217
ICD10 33 H35.5
MeSH 44 D057130
SNOMED-CT via HPO 69 258211005
UMLS 73 C3715164

Summaries for Leber Congenital Amaurosis 17

UniProtKB/Swiss-Prot : 75 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 is p70S6K Signaling. 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:

57
Head And Neck Eyes:
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 29 GDF6

Anatomical Context for Leber Congenital Amaurosis 17

MalaCards organs/tissues related to Leber Congenital Amaurosis 17:

41
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:

75
# 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
(show all 11)
# 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(GDF6): c.595G> A (p.Ala199Thr) single nucleotide variant Pathogenic rs387906794 GRCh38 Chromosome 8, 96145336: 96145336
3 GDF6 NM_001001557.3: c.876G> Y single nucleotide variant Pathogenic
4 GDF6 NM_001001557.3(GDF6): c.169G> C (p.Asp57His) single nucleotide variant Pathogenic rs397514725 GRCh37 Chromosome 8, 97172752: 97172752
5 GDF6 NM_001001557.3(GDF6): c.169G> C (p.Asp57His) single nucleotide variant Pathogenic rs397514725 GRCh38 Chromosome 8, 96160524: 96160524
6 GDF6 NM_001001557.3(GDF6): c.936G> C (p.Ser312=) single nucleotide variant Benign/Likely benign rs148861809 GRCh37 Chromosome 8, 97157223: 97157223
7 GDF6 NM_001001557.3(GDF6): c.936G> C (p.Ser312=) single nucleotide variant Benign/Likely benign rs148861809 GRCh38 Chromosome 8, 96144995: 96144995
8 GDF6 NM_001001557.3(GDF6): c.255G> T (p.Pro85=) single nucleotide variant Benign/Likely benign rs112296824 GRCh38 Chromosome 8, 96160438: 96160438
9 GDF6 NM_001001557.3(GDF6): c.255G> T (p.Pro85=) single nucleotide variant Benign/Likely benign rs112296824 GRCh37 Chromosome 8, 97172666: 97172666
10 GDF6 NM_001001557.3(GDF6): c.99_101delGTC (p.Ser34del) deletion Likely benign rs141468446 GRCh37 Chromosome 8, 97172820: 97172822
11 GDF6 NM_001001557.3(GDF6): c.99_101delGTC (p.Ser34del) deletion Likely benign rs141468446 GRCh38 Chromosome 8, 96160592: 96160594

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
11.5 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
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
Content
Loading form....