LCA17
MCID: LBR029
MIFTS: 35

Leber Congenital Amaurosis 17 (LCA17)

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

Aliases & Classifications for Leber Congenital Amaurosis 17

MalaCards integrated aliases for Leber Congenital Amaurosis 17:

Name: Leber Congenital Amaurosis 17 57 12 72 29 6 15 70
Lca17 57 12 72
Leber Congenital Amaurosis, Type 17 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:

Disease Ontology 12 DOID:0110217
OMIM® 57 615360
OMIM Phenotypic Series 57 PS204000
MeSH 44 D057130
ICD10 32 H35.5
SNOMED-CT via HPO 68 258211005
UMLS 70 C3715164

Summaries for Leber Congenital Amaurosis 17

UniProtKB/Swiss-Prot : 72 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 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 GPCR Pathway and PEDF Induced Signaling. Affiliated tissues include retina, eye and bone, and related phenotype is ultra-low vision with retained motion projection.

Disease Ontology : 12 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:

31
# Description HPO Frequency HPO Source Accession
1 ultra-low vision with retained motion projection 31 very rare (1%) HP:0032284

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
vision limited to detection of hand motion
extinguished responses on electroretinography

Clinical features from OMIM®:

615360 (Updated 05-Apr-2021)

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:

40
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 6
23307924 2013
2
Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies. 6
19864492 2010
3
Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes. 6
19129173 2009
4
Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. 6
18425797 2008

Variations for Leber Congenital Amaurosis 17

ClinVar genetic disease variations for Leber Congenital Amaurosis 17:

6 (show top 50) (show all 51)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GDF6 NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu) SNV Pathogenic 8371 rs121909352 GRCh37: 8:97157413-97157413
GRCh38: 8:96145185-96145185
2 GDF6 NM_001001557.4(GDF6):c.169G>C (p.Asp57His) SNV Pathogenic 60534 rs397514725 GRCh37: 8:97172752-97172752
GRCh38: 8:96160524-96160524
3 GDF6 NM_001001557.4(GDF6):c.876G>Y (p.Glu292Asp) SNV Pathogenic 60533 rs1401531865 GRCh37: 8:97157283-97157283
GRCh38: 8:96145055-96145055
4 GDF6 NM_001001557.4(GDF6):c.595G>A (p.Ala199Thr) SNV Pathogenic 30159 rs387906794 GRCh37: 8:97157564-97157564
GRCh38: 8:96145336-96145336
5 GDF6 NM_001001557.4(GDF6):c.1304C>T (p.Ala435Val) SNV Uncertain significance 364042 rs140782427 GRCh37: 8:97156855-97156855
GRCh38: 8:96144627-96144627
6 GDF6 NM_001001557.4(GDF6):c.631G>A (p.Gly211Ser) SNV Uncertain significance 1034940 GRCh37: 8:97157528-97157528
GRCh38: 8:96145300-96145300
7 GDF6 NM_001001557.4(GDF6):c.883G>A (p.Glu295Lys) SNV Uncertain significance 1037153 GRCh37: 8:97157276-97157276
GRCh38: 8:96145048-96145048
8 GDF6 NM_001001557.4(GDF6):c.1322A>G (p.Tyr441Cys) SNV Uncertain significance 1043780 GRCh37: 8:97156837-97156837
GRCh38: 8:96144609-96144609
9 GDF6 NM_001001557.4(GDF6):c.815C>T (p.Pro272Leu) SNV Uncertain significance 836995 GRCh37: 8:97157344-97157344
GRCh38: 8:96145116-96145116
10 GDF6 NM_001001557.4(GDF6):c.878T>C (p.Met293Thr) SNV Uncertain significance 959329 GRCh37: 8:97157281-97157281
GRCh38: 8:96145053-96145053
11 GDF6 NM_001001557.4(GDF6):c.725C>G (p.Ala242Gly) SNV Uncertain significance 286405 rs886043381 GRCh37: 8:97157434-97157434
GRCh38: 8:96145206-96145206
12 GDF6 NM_001001557.4(GDF6):c.362C>T (p.Ser121Phe) SNV Uncertain significance 968855 GRCh37: 8:97172559-97172559
GRCh38: 8:96160331-96160331
13 GDF6 NM_001001557.4(GDF6):c.460A>G (p.Met154Val) SNV Uncertain significance 835633 GRCh37: 8:97157699-97157699
GRCh38: 8:96145471-96145471
14 GDF6 NM_001001557.4(GDF6):c.623C>T (p.Pro208Leu) SNV Uncertain significance 837877 GRCh37: 8:97157536-97157536
GRCh38: 8:96145308-96145308
15 GDF6 NM_001001557.4(GDF6):c.27G>A (p.Ser9=) SNV Uncertain significance 846167 GRCh37: 8:97172894-97172894
GRCh38: 8:96160666-96160666
16 GDF6 NM_001001557.4(GDF6):c.428T>C (p.Leu143Pro) SNV Uncertain significance 853665 GRCh37: 8:97157731-97157731
GRCh38: 8:96145503-96145503
17 GDF6 NM_001001557.4(GDF6):c.322G>A (p.Ala108Thr) SNV Uncertain significance 863448 GRCh37: 8:97172599-97172599
GRCh38: 8:96160371-96160371
18 GDF6 NM_001001557.4(GDF6):c.305A>G (p.Tyr102Cys) SNV Uncertain significance 954499 GRCh37: 8:97172616-97172616
GRCh38: 8:96160388-96160388
19 GDF6 NM_001001557.4(GDF6):c.250G>A (p.Glu84Lys) SNV Uncertain significance 914077 GRCh37: 8:97172671-97172671
GRCh38: 8:96160443-96160443
20 GDF6 NM_001001557.4(GDF6):c.253C>T (p.Pro85Ser) SNV Uncertain significance 958860 GRCh37: 8:97172668-97172668
GRCh38: 8:96160440-96160440
21 GDF6 NM_001001557.4(GDF6):c.758A>G (p.Gln253Arg) SNV Uncertain significance 964319 GRCh37: 8:97157401-97157401
GRCh38: 8:96145173-96145173
22 GDF6 NM_001001557.4(GDF6):c.1310A>G (p.Asn437Ser) SNV Uncertain significance 1001816 GRCh37: 8:97156849-97156849
GRCh38: 8:96144621-96144621
23 GDF6 NM_001001557.4(GDF6):c.536C>A (p.Pro179Gln) SNV Uncertain significance 1002016 GRCh37: 8:97157623-97157623
GRCh38: 8:96145395-96145395
24 GDF6 NM_001001557.4(GDF6):c.896C>T (p.Ser299Leu) SNV Uncertain significance 1002101 GRCh37: 8:97157263-97157263
GRCh38: 8:96145035-96145035
25 GDF6 NM_001001557.4(GDF6):c.611C>T (p.Pro204Leu) SNV Uncertain significance 1007576 GRCh37: 8:97157548-97157548
GRCh38: 8:96145320-96145320
26 GDF6 NM_001001557.4(GDF6):c.377C>T (p.Thr126Met) SNV Uncertain significance 1008100 GRCh37: 8:97172544-97172544
GRCh38: 8:96160316-96160316
27 GDF6 NM_001001557.4(GDF6):c.272G>C (p.Arg91Pro) SNV Uncertain significance 1008463 GRCh37: 8:97172649-97172649
GRCh38: 8:96160421-96160421
28 GDF6 NM_001001557.4(GDF6):c.281C>G (p.Pro94Arg) SNV Uncertain significance 1009700 GRCh37: 8:97172640-97172640
GRCh38: 8:96160412-96160412
29 GDF6 NM_001001557.4(GDF6):c.167G>C (p.Arg56Pro) SNV Uncertain significance 836171 GRCh37: 8:97172754-97172754
GRCh38: 8:96160526-96160526
30 GDF6 NM_001001557.4(GDF6):c.785G>A (p.Ser262Asn) SNV Uncertain significance 939495 GRCh37: 8:97157374-97157374
GRCh38: 8:96145146-96145146
31 GDF6 NM_001001557.4(GDF6):c.856C>T (p.Arg286Cys) SNV Uncertain significance 954246 GRCh37: 8:97157303-97157303
GRCh38: 8:96145075-96145075
32 GDF6 NM_001001557.4(GDF6):c.223C>A (p.Pro75Thr) SNV Uncertain significance 962453 GRCh37: 8:97172698-97172698
GRCh38: 8:96160470-96160470
33 GDF6 NM_001001557.4(GDF6):c.82A>C (p.Ile28Leu) SNV Uncertain significance 965244 GRCh37: 8:97172839-97172839
GRCh38: 8:96160611-96160611
34 GDF6 NM_001001557.4(GDF6):c.996GCG[4] (p.Arg335dup) Microsatellite Uncertain significance 968900 GRCh37: 8:97157154-97157155
GRCh38: 8:96144926-96144927
35 GDF6 NM_001001557.4(GDF6):c.323C>A (p.Ala108Asp) SNV Uncertain significance 1015372 GRCh37: 8:97172598-97172598
GRCh38: 8:96160370-96160370
36 GDF6 NM_001001557.4(GDF6):c.902A>G (p.Glu301Gly) SNV Uncertain significance 1023649 GRCh37: 8:97157257-97157257
GRCh38: 8:96145029-96145029
37 GDF6 NM_001001557.4(GDF6):c.954C>T (p.Gly318=) SNV Uncertain significance 1023889 GRCh37: 8:97157205-97157205
GRCh38: 8:96144977-96144977
38 GDF6 NM_001001557.4(GDF6):c.1229T>G (p.Met410Arg) SNV Uncertain significance 1026389 GRCh37: 8:97156930-97156930
GRCh38: 8:96144702-96144702
39 GDF6 NM_001001557.4(GDF6):c.728G>T (p.Gly243Val) SNV Uncertain significance 1027057 GRCh37: 8:97157431-97157431
GRCh38: 8:96145203-96145203
40 GDF6 NM_001001557.4(GDF6):c.1002_1003delinsAG (p.Arg335Gly) Indel Uncertain significance 836825 GRCh37: 8:97157156-97157157
GRCh38: 8:96144928-96144929
41 GDF6 NM_001001557.4(GDF6):c.223C>T (p.Pro75Ser) SNV Uncertain significance 851090 GRCh37: 8:97172698-97172698
GRCh38: 8:96160470-96160470
42 GDF6 NM_001001557.4(GDF6):c.870C>A (p.Phe290Leu) SNV Uncertain significance 939263 GRCh37: 8:97157289-97157289
GRCh38: 8:96145061-96145061
43 GDF6 NM_001001557.4(GDF6):c.96_98GTC[1] (p.Ser34del) Microsatellite Likely benign 470717 rs141468446 GRCh37: 8:97172820-97172822
GRCh38: 8:96160592-96160594
44 GDF6 NM_001001557.4(GDF6):c.24C>G (p.Leu8=) SNV Likely benign 707560 rs369859861 GRCh37: 8:97172897-97172897
GRCh38: 8:96160669-96160669
45 GDF6 NM_001001557.4(GDF6):c.112G>C (p.Gly38Arg) SNV Likely benign 707574 rs139075817 GRCh37: 8:97172809-97172809
GRCh38: 8:96160581-96160581
46 GDF6 NM_001001557.4(GDF6):c.483G>T (p.Leu161=) SNV Likely benign 772997 rs200585226 GRCh37: 8:97157676-97157676
GRCh38: 8:96145448-96145448
47 GDF6 NM_001001557.4(GDF6):c.870C>T (p.Phe290=) SNV Likely benign 364045 rs765928590 GRCh37: 8:97157289-97157289
GRCh38: 8:96145061-96145061
48 GDF6 NM_001001557.4(GDF6):c.255G>T (p.Pro85=) SNV Benign 256847 rs112296824 GRCh37: 8:97172666-97172666
GRCh38: 8:96160438-96160438
49 GDF6 NM_001001557.4(GDF6):c.852C>G (p.Ser284=) SNV Benign 364046 rs74498875 GRCh37: 8:97157307-97157307
GRCh38: 8:96145079-96145079
50 GDF6 NM_001001557.4(GDF6):c.356A>G (p.Gln119Arg) SNV Benign 364051 rs140579014 GRCh37: 8:97172565-97172565
GRCh38: 8:96160337-96160337

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

72
# 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 rs140153186

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 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.23 GDF6 GDF5 EPHA5 BMP8A
2
Show member pathways
13.14 GDF7 GDF6 GDF5 EPHA5 BMP8A
3
Show member pathways
13.09 GDF6 GDF5 EPHA5 BMP8A
4
Show member pathways
13.06 GDF6 GDF5 EPHA5 BMP8A
5
Show member pathways
12.96 GDF6 GDF5 EPHA5 BMP8A
6
Show member pathways
12.86 GDF6 GDF5 EPHA5 BMP8A
7
Show member pathways
12.81 GDF6 GDF5 EPHA5 BMP8A
8
Show member pathways
12.62 GDF6 GDF5 BMP8A
9
Show member pathways
12.55 GDF6 GDF5 EPHA5 BMP8A
10
Show member pathways
12.29 GDF6 GDF5 BMP8A
11
Show member pathways
11.85 GDF6 GDF5 EPHA5 BMP8A
12
Show member pathways
11.82 GDF6 GDF5 BMP8A
13 11.45 GDF7 GDF6 GDF5 BMP8A
14 11.15 GDF6 GDF5 EPHA5 BMP8A
15 10.9 GDF7 GDF6 GDF5 BMP8A
16 10.53 GDF6 GDF5 EPHA5 BMP8A

GO Terms for Leber Congenital Amaurosis 17

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.35 PAEP GDF7 GDF6 GDF5 BMP8A
2 extracellular space GO:0005615 9.02 PAEP GDF7 GDF6 GDF5 BMP8A

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

# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.71 PAEP GDF6 EPHA5 BMP8A
2 positive regulation of neuron differentiation GO:0045666 9.46 GDF7 GDF5
3 BMP signaling pathway GO:0030509 9.46 GDF7 GDF6 GDF5 BMP8A
4 cartilage development GO:0051216 9.43 GDF5 BMP8A
5 activin receptor signaling pathway GO:0032924 9.37 GDF7 GDF6
6 positive regulation of chondrocyte differentiation GO:0032332 9.32 GDF6 GDF5
7 pathway-restricted SMAD protein phosphorylation GO:0060389 9.26 GDF7 GDF6
8 SMAD protein signal transduction GO:0060395 9.26 GDF7 GDF6 GDF5 BMP8A
9 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 8.92 GDF7 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 9.26 GDF7 GDF6 GDF5 BMP8A
2 growth factor activity GO:0008083 8.92 GDF7 GDF6 GDF5 BMP8A

Sources for Leber Congenital Amaurosis 17

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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