LCA17
MCID: LBR029
MIFTS: 25

Leber Congenital Amaurosis 17 (LCA17) malady

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

Aliases & Classifications for Leber Congenital Amaurosis 17

Aliases & Descriptions for Leber Congenital Amaurosis 17:

Name: Leber Congenital Amaurosis 17 54 12 66 29 14 69
Lca17 12 66

Characteristics:

HPO:

32
leber congenital amaurosis 17:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 615360
Disease Ontology 12 DOID:0110217
ICD10 33 H35.5
MeSH 42 D057130

Summaries for Leber Congenital Amaurosis 17

UniProtKB/Swiss-Prot : 66 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, also known as lca17, is related to leber congenital amaurosis 1 and klippel-trenaunay-weber syndrome. 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_RhoA 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

Diseases in the Leber Congenital Amaurosis family:

Leber Congenital Amaurosis 9 Leber Congenital Amaurosis 2
Leber Congenital Amaurosis 8 Leber Congenital Amaurosis 12
Leber Congenital Amaurosis 16 Leber Congenital Amaurosis 14
Leber Congenital Amaurosis 15 Leber Congenital Amaurosis 5
Leber Congenital Amaurosis 11 Leber Congenital Amaurosis 17
Leber Congenital Amaurosis 10 Leber Congenital Amaurosis 6
Leber Congenital Amaurosis 13 Leber Congenital Amaurosis 3
Leber Congenital Amaurosis 4 Leber Congenital Amaurosis 1
Leber Congenital Amaurosis 7 Aipl1-Related Leber Congenital Amaurosis
Cep290-Related Leber Congenital Amaurosis Crb1-Related Leber Congenital Amaurosis
Crx-Related Leber Congenital Amaurosis Gucy2d-Related Leber Congenital Amaurosis
Impdh1-Related Leber Congenital Amaurosis Iqcb1-Related Leber Congenital Amaurosis
Kcnj13-Related Leber Congenital Amaurosis Lca5-Related Leber Congenital Amaurosis
Lrat-Related Leber Congenital Amaurosis Nmnat1-Related Leber Congenital Amaurosis
Rd3-Related Leber Congenital Amaurosis Rdh12-Related Leber Congenital Amaurosis
Rpe65-Related Leber Congenital Amaurosis Rpgrip1-Related Leber Congenital Amaurosis
Spata7-Related Leber Congenital Amaurosis Tulp1-Related Leber Congenital Amaurosis

Diseases related to Leber Congenital Amaurosis 17 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 leber congenital amaurosis 1 10.9
2 klippel-trenaunay-weber syndrome 9.6 EPHA5 GDF6 SCGB1D1

Symptoms & Phenotypes for Leber Congenital Amaurosis 17

Symptoms by clinical synopsis from OMIM:

615360

Clinical features from OMIM:

615360

Drugs & Therapeutics for Leber Congenital Amaurosis 17

Interventional clinical trials:


id Name Status NCT ID Phase
1 Clinical Trial of Gene Therapy for Leber Congenital Amaurosis Caused by RPE65 Mutations Unknown status NCT00821340 Phase 1
2 Phase I Trial of Gene Vector to Patients With Retinal Disease Due to RPE65 Mutations Active, not recruiting NCT00481546 Phase 1

Search NIH Clinical Center for Leber Congenital Amaurosis 17

Genetic Tests for Leber Congenital Amaurosis 17

Genetic tests related to Leber Congenital Amaurosis 17:

id Genetic test Affiliating Genes
1 Leber Congenital Amaurosis 17 29

Anatomical Context for Leber Congenital Amaurosis 17

MalaCards organs/tissues related to Leber Congenital Amaurosis 17:

39
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:

66
id 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
id 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:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.84 EPHA5 GDF6
2 10.31 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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