LCA17
MCID: LBR029
MIFTS: 36

Leber Congenital Amaurosis 17 (LCA17)

Categories: Eye diseases, Genetic diseases, Neuronal diseases
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Aliases & Classifications for Leber Congenital Amaurosis 17

MalaCards integrated aliases for Leber Congenital Amaurosis 17:

Name: Leber Congenital Amaurosis 17 57 11 73 28 5 14 71
Lca17 57 11 73
Leber Congenital Amaurosis, Type 17 38

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
clinically unaffected heterozygotes may show changes on electroretinography
clinical features based on 1 reported family (last curated august 2013)


Classifications:



External Ids:

Disease Ontology 11 DOID:0110217
OMIM® 57 615360
OMIM Phenotypic Series 57 PS204000
MeSH 43 D057130
ICD10 31 H35.5
UMLS 71 C3715164

Summaries for Leber Congenital Amaurosis 17

UniProtKB/Swiss-Prot: 73 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 brachydactyly, type a1 and klippel-feil syndrome 1. An important gene associated with Leber Congenital Amaurosis 17 is GDF6 (Growth Differentiation Factor 6), and among its related pathways/superpathways are ERK Signaling and GPCR Pathway. Affiliated tissues include retina, eye and bone, and related phenotypes are ultra-low vision with retained motion projection and Increased shRNA abundance (Z-score > 2)

Disease Ontology: 11 A Leber congenital amaurosis that has material basis in mutation in the GDF6 gene on chromosome 8q22.

More information from OMIM: 615360 PS204000

Related Diseases for Leber Congenital Amaurosis 17

Graphical network of the top 20 diseases related to Leber Congenital Amaurosis 17:



Diseases related to Leber Congenital Amaurosis 17

Symptoms & Phenotypes for Leber Congenital Amaurosis 17

Human phenotypes related to Leber Congenital Amaurosis 17:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ultra-low vision with retained motion projection 30 Very rare (1%) HP:0032284

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Eyes:
vision limited to detection of hand motion
extinguished responses on electroretinography

Clinical features from OMIM®:

615360 (Updated 08-Dec-2022)

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-123 8.92 RBMXL1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-151 8.92 EPHA5
3 Increased shRNA abundance (Z-score > 2) GR00366-A-181 8.92 EPHA5
4 Increased shRNA abundance (Z-score > 2) GR00366-A-52 8.92 EPHA5

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

Organs/tissues related to Leber Congenital Amaurosis 17:

MalaCards : Retina, Eye, Bone

Publications for Leber Congenital Amaurosis 17

Articles related to Leber Congenital Amaurosis 17:

# Title Authors PMID Year
1
Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies. 57 5
23307924 2013
2
Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies. 5
19864492 2010
3
Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. 5
18425797 2008

Variations for Leber Congenital Amaurosis 17

ClinVar genetic disease variations for Leber Congenital Amaurosis 17:

5 (show top 50) (show all 184)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GDF6 NM_001001557.4(GDF6):c.876G>Y (p.Glu292Asp) SNV Pathogenic
60533 rs1401531865 GRCh37: 8:97157283-97157283
GRCh38: 8:96145055-96145055
2 GDF6 NM_001001557.4(GDF6):c.169G>C (p.Asp57His) SNV Pathogenic
Uncertain Significance
60534 rs397514725 GRCh37: 8:97172752-97172752
GRCh38: 8:96160524-96160524
3 GDF6 NM_001001557.4(GDF6):c.595G>A (p.Ala199Thr) SNV Pathogenic
30159 rs387906794 GRCh37: 8:97157564-97157564
GRCh38: 8:96145336-96145336
4 GDF6 NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu) SNV Pathogenic
Benign
8371 rs121909352 GRCh37: 8:97157413-97157413
GRCh38: 8:96145185-96145185
5 GDF6 NM_001001557.4(GDF6):c.878T>C (p.Met293Thr) SNV Uncertain Significance
959329 rs762304422 GRCh37: 8:97157281-97157281
GRCh38: 8:96145053-96145053
6 GDF6 NM_001001557.4(GDF6):c.223C>A (p.Pro75Thr) SNV Uncertain Significance
962453 rs1040541530 GRCh37: 8:97172698-97172698
GRCh38: 8:96160470-96160470
7 GDF6 NM_001001557.4(GDF6):c.758A>G (p.Gln253Arg) SNV Uncertain Significance
964319 rs121909355 GRCh37: 8:97157401-97157401
GRCh38: 8:96145173-96145173
8 GDF6 NM_001001557.4(GDF6):c.82A>C (p.Ile28Leu) SNV Uncertain Significance
965244 rs760516509 GRCh37: 8:97172839-97172839
GRCh38: 8:96160611-96160611
9 GDF6 NM_001001557.4(GDF6):c.725C>G (p.Ala242Gly) SNV Uncertain Significance
286405 rs886043381 GRCh37: 8:97157434-97157434
GRCh38: 8:96145206-96145206
10 GDF6 NM_001001557.4(GDF6):c.362C>T (p.Ser121Phe) SNV Uncertain Significance
968855 rs772435568 GRCh37: 8:97172559-97172559
GRCh38: 8:96160331-96160331
11 GDF6 NM_001001557.4(GDF6):c.996GCG[4] (p.Arg335dup) MICROSAT Uncertain Significance
968900 rs762461479 GRCh37: 8:97157154-97157155
GRCh38: 8:96144926-96144927
12 GDF6 NM_001001557.4(GDF6):c.1310A>G (p.Asn437Ser) SNV Uncertain Significance
1001816 rs376427985 GRCh37: 8:97156849-97156849
GRCh38: 8:96144621-96144621
13 GDF6 NM_001001557.4(GDF6):c.536C>A (p.Pro179Gln) SNV Uncertain Significance
1002016 rs1444302456 GRCh37: 8:97157623-97157623
GRCh38: 8:96145395-96145395
14 GDF6 NM_001001557.4(GDF6):c.611C>T (p.Pro204Leu) SNV Uncertain Significance
1007576 rs999492360 GRCh37: 8:97157548-97157548
GRCh38: 8:96145320-96145320
15 GDF6 NM_001001557.4(GDF6):c.377C>T (p.Thr126Met) SNV Uncertain Significance
1008100 rs536331514 GRCh37: 8:97172544-97172544
GRCh38: 8:96160316-96160316
16 GDF6 NM_001001557.4(GDF6):c.272G>C (p.Arg91Pro) SNV Uncertain Significance
1008463 rs768741148 GRCh37: 8:97172649-97172649
GRCh38: 8:96160421-96160421
17 GDF6 NM_001001557.4(GDF6):c.281C>G (p.Pro94Arg) SNV Uncertain Significance
1009700 rs367883918 GRCh37: 8:97172640-97172640
GRCh38: 8:96160412-96160412
18 GDF6 NM_001001557.4(GDF6):c.323C>A (p.Ala108Asp) SNV Uncertain Significance
1015372 rs1812739209 GRCh37: 8:97172598-97172598
GRCh38: 8:96160370-96160370
19 GDF6 NM_001001557.4(GDF6):c.815C>T (p.Pro272Leu) SNV Uncertain Significance
836995 rs561421783 GRCh37: 8:97157344-97157344
GRCh38: 8:96145116-96145116
20 GDF6 NM_001001557.4(GDF6):c.322G>A (p.Ala108Thr) SNV Uncertain Significance
863448 rs368498747 GRCh37: 8:97172599-97172599
GRCh38: 8:96160371-96160371
21 GDF6 NM_001001557.4(GDF6):c.253C>T (p.Pro85Ser) SNV Uncertain Significance
958860 rs766458579 GRCh37: 8:97172668-97172668
GRCh38: 8:96160440-96160440
22 GDF6 NM_001001557.4(GDF6):c.896C>T (p.Ser299Leu) SNV Uncertain Significance
1002101 rs761634996 GRCh37: 8:97157263-97157263
GRCh38: 8:96145035-96145035
23 GDF6 NM_001001557.4(GDF6):c.31G>A (p.Val11Ile) SNV Uncertain Significance
1053446 GRCh37: 8:97172890-97172890
GRCh38: 8:96160662-96160662
24 GDF6 NM_001001557.4(GDF6):c.460A>G (p.Met154Val) SNV Uncertain Significance
835633 rs766667262 GRCh37: 8:97157699-97157699
GRCh38: 8:96145471-96145471
25 GDF6 NM_001001557.4(GDF6):c.167G>C (p.Arg56Pro) SNV Uncertain Significance
836171 rs375108591 GRCh37: 8:97172754-97172754
GRCh38: 8:96160526-96160526
26 GDF6 NM_001001557.4(GDF6):c.1002_1003delinsAG (p.Arg335Gly) INDEL Uncertain Significance
836825 rs1812445134 GRCh37: 8:97157156-97157157
GRCh38: 8:96144928-96144929
27 GDF6 NM_001001557.4(GDF6):c.623C>T (p.Pro208Leu) SNV Uncertain Significance
837877 rs903826881 GRCh37: 8:97157536-97157536
GRCh38: 8:96145308-96145308
28 GDF6 NM_001001557.4(GDF6):c.27G>A (p.Ser9=) SNV Uncertain Significance
846167 rs1215904741 GRCh37: 8:97172894-97172894
GRCh38: 8:96160666-96160666
29 GDF6 NM_001001557.4(GDF6):c.223C>T (p.Pro75Ser) SNV Uncertain Significance
851090 rs1040541530 GRCh37: 8:97172698-97172698
GRCh38: 8:96160470-96160470
30 GDF6 NM_001001557.4(GDF6):c.428T>C (p.Leu143Pro) SNV Uncertain Significance
853665 rs1812463179 GRCh37: 8:97157731-97157731
GRCh38: 8:96145503-96145503
31 GDF6 NM_001001557.4(GDF6):c.870C>A (p.Phe290Leu) SNV Uncertain Significance
939263 rs765928590 GRCh37: 8:97157289-97157289
GRCh38: 8:96145061-96145061
32 GDF6 NM_001001557.4(GDF6):c.785G>A (p.Ser262Asn) SNV Uncertain Significance
939495 rs747899927 GRCh37: 8:97157374-97157374
GRCh38: 8:96145146-96145146
33 GDF6 NM_001001557.4(GDF6):c.856C>T (p.Arg286Cys) SNV Uncertain Significance
954246 rs1303995573 GRCh37: 8:97157303-97157303
GRCh38: 8:96145075-96145075
34 GDF6 NM_001001557.4(GDF6):c.305A>G (p.Tyr102Cys) SNV Uncertain Significance
954499 rs1204502085 GRCh37: 8:97172616-97172616
GRCh38: 8:96160388-96160388
35 GDF6 NM_001001557.4(GDF6):c.817C>A (p.Gln273Lys) SNV Uncertain Significance
912580 rs780167779 GRCh37: 8:97157342-97157342
GRCh38: 8:96145114-96145114
36 GDF6 NM_001001557.4(GDF6):c.83T>C (p.Ile28Thr) SNV Uncertain Significance
1368033 GRCh37: 8:97172838-97172838
GRCh38: 8:96160610-96160610
37 GDF6 NM_001001557.4(GDF6):c.239C>T (p.Pro80Leu) SNV Uncertain Significance
1355378 GRCh37: 8:97172682-97172682
GRCh38: 8:96160454-96160454
38 GDF6 NM_001001557.4(GDF6):c.1244C>T (p.Thr415Ile) SNV Uncertain Significance
1050339 GRCh37: 8:97156915-97156915
GRCh38: 8:96144687-96144687
39 GDF6 NM_001001557.4(GDF6):c.1178C>T (p.Ser393Leu) SNV Uncertain Significance
1368547 GRCh37: 8:97156981-97156981
GRCh38: 8:96144753-96144753
40 GDF6 NM_001001557.4(GDF6):c.416C>T (p.Ser139Leu) SNV Uncertain Significance
1357180 GRCh37: 8:97157743-97157743
GRCh38: 8:96145515-96145515
41 GDF6 NM_001001557.4(GDF6):c.100T>C (p.Ser34Pro) SNV Uncertain Significance
1357500 GRCh37: 8:97172821-97172821
GRCh38: 8:96160593-96160593
42 GDF6 NM_001001557.4(GDF6):c.513G>A (p.Gln171=) SNV Uncertain Significance
1356005 GRCh37: 8:97157646-97157646
GRCh38: 8:96145418-96145418
43 GDF6 NM_001001557.4(GDF6):c.701G>T (p.Arg234Leu) SNV Uncertain Significance
1378435 GRCh37: 8:97157458-97157458
GRCh38: 8:96145230-96145230
44 GDF6 NM_001001557.4(GDF6):c.365A>C (p.Lys122Thr) SNV Uncertain Significance
1390684 GRCh37: 8:97172556-97172556
GRCh38: 8:96160328-96160328
45 GDF6 NM_001001557.4(GDF6):c.1333G>C (p.Glu445Gln) SNV Uncertain Significance
1368768 GRCh37: 8:97156826-97156826
GRCh38: 8:96144598-96144598
46 GDF6 NM_001001557.4(GDF6):c.1022G>A (p.Arg341His) SNV Uncertain Significance
1422951 GRCh37: 8:97157137-97157137
GRCh38: 8:96144909-96144909
47 GDF6 NM_001001557.4(GDF6):c.684G>C (p.Gln228His) SNV Uncertain Significance
1429484 GRCh37: 8:97157475-97157475
GRCh38: 8:96145247-96145247
48 GDF6 NM_001001557.4(GDF6):c.115T>C (p.Ser39Pro) SNV Uncertain Significance
1417974 GRCh37: 8:97172806-97172806
GRCh38: 8:96160578-96160578
49 GDF6 NM_001001557.4(GDF6):c.808C>T (p.Arg270Trp) SNV Uncertain Significance
1417427 GRCh37: 8:97157351-97157351
GRCh38: 8:96145123-96145123
50 GDF6 NM_001001557.4(GDF6):c.413T>C (p.Leu138Pro) SNV Uncertain Significance
1461462 GRCh37: 8:97157746-97157746
GRCh38: 8:96145518-96145518

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

73
# 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 rs1401531865

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:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.31 GDF6 GDF5 EPHA5 BMP8A
2
Show member pathways
13.18 GDF6 GDF5 EPHA5 BMP8A
3
Show member pathways
13.05 GDF6 GDF5 EPHA5 BMP8A
4
Show member pathways
13.02 GDF6 GDF5 EPHA5 BMP8A
5
Show member pathways
12.88 GDF6 GDF5 EPHA5 BMP8A
6
Show member pathways
12.75 GDF6 GDF5 EPHA5 BMP8A
7
Show member pathways
12.67 GDF6 GDF5 EPHA5 BMP8A
8
Show member pathways
12.59 GDF6 GDF5 BMP8A
9
Show member pathways
12.44 GDF6 GDF5 EPHA5 BMP8A
10
Show member pathways
12.2 BMP8A GDF5 GDF6
11
Show member pathways
12.14 GDF6 GDF5 BMP8A
12
Show member pathways
11.54 GDF6 GDF5 EPHA5 BMP8A
13 10.61 GDF6 GDF5 EPHA5 BMP8A
14 10.36 GDF6 GDF5 EPHA5 BMP8A

GO Terms for Leber Congenital Amaurosis 17

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of neuron differentiation GO:0045666 9.67 GDF6 GDF5
2 BMP signaling pathway GO:0030509 9.63 GDF6 GDF5 BMP8A
3 positive regulation of chondrocyte differentiation GO:0032332 9.56 GDF6 GDF5
4 cartilage development GO:0051216 9.5 GDF5 BMP8A
5 SMAD protein signal transduction GO:0060395 9.43 GDF6 GDF5 BMP8A
6 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.1 GDF6 GDF5 BMP8A

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

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.43 GDF6 GDF5 BMP8A
2 growth factor activity GO:0008083 9.1 GDF6 GDF5 BMP8A

Sources for Leber Congenital Amaurosis 17

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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