MCID: LBR029
MIFTS: 26

Leber Congenital Amaurosis 17 malady

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

Aliases & Classifications for Leber Congenital Amaurosis 17

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Aliases & Descriptions for Leber Congenital Amaurosis 17:

Name: Leber Congenital Amaurosis 17 50 68 25 66
 
Lca17 68

Characteristics:

HPO:

62
leber congenital amaurosis 17:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 615360
MeSH37 D057130

Summaries for Leber Congenital Amaurosis 17

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UniProtKB/Swiss-Prot:68 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 virus-associated trichodysplasia spinulosa. An important gene associated with Leber Congenital Amaurosis 17 is GDF6 (Growth Differentiation Factor 6), and among its related pathways is TGF-beta Signaling Pathway (sino). Affiliated tissues include retina.

Description from OMIM:50 615360

Related Diseases for Leber Congenital Amaurosis 17

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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:

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1leber congenital amaurosis 110.0
2virus-associated trichodysplasia spinulosa9.7GDF3, GDF6
3leber congenital amaurosis 179.7GDF3, GDF6
4microphthalmia, isolated 49.7GDF3, GDF6
5microphthalmia with coloboma 6, digenic9.7GDF3, GDF6
6pyruvate dehydrogenase phosphatase deficiency9.6GDF3, GDF6
7ispd-related muscle diseases9.6GDF3, GDF6
8coloboma of eyelid9.5GDF3, GDF6
9partial optic atrophy9.5GDF3, GDF6
10purulent acute otitis media9.4GDF3, GDF6
11cornelia de lange syndrome 59.2GDF3, GDF6

Graphical network of diseases related to Leber Congenital Amaurosis 17:



Diseases related to leber congenital amaurosis 17

Symptoms for Leber Congenital Amaurosis 17

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Symptoms by clinical synopsis from OMIM:

615360

Clinical features from OMIM:

615360

Drugs & Therapeutics for Leber Congenital Amaurosis 17

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Clinical Trial of Gene Therapy for Leber Congenital Amaurosis Caused by RPE65 MutationsRecruitingNCT00821340Phase 1
2Phase I Trial of Gene Vector to Patients With Retinal Disease Due to RPE65 MutationsActive, not recruitingNCT00481546Phase 1

Search NIH Clinical Center for Leber Congenital Amaurosis 17

Genetic Tests for Leber Congenital Amaurosis 17

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Genetic tests related to Leber Congenital Amaurosis 17:

id Genetic test Affiliating Genes
1 Leber Congenital Amaurosis 1725

Anatomical Context for Leber Congenital Amaurosis 17

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MalaCards organs/tissues related to Leber Congenital Amaurosis 17:

34
Retina

Animal Models for Leber Congenital Amaurosis 17 or affiliated genes

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Publications for Leber Congenital Amaurosis 17

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Variations for Leber Congenital Amaurosis 17

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

68
id Symbol AA change Variation ID SNP ID
1GDF6p.Ala249GluVAR_046903rs121909352
2GDF6p.Ala199ThrVAR_065151rs387906794
3GDF6p.Asp57HisVAR_070254rs397514725
4GDF6p.Glu292AspVAR_070255

Clinvar genetic disease variations for Leber Congenital Amaurosis 17:

5
id Gene Variation Type Significance SNP ID Assembly Location
1GDF6NM_001001557.2(GDF6): c.595G> A (p.Ala199Thr)single nucleotide variantPathogenicrs387906794GRCh37Chr 8, 97157564: 97157564
2GDF6GDF6, GLU292ASPsingle nucleotide variantPathogenic
3GDF6NM_001001557.2(GDF6): c.169G> C (p.Asp57His)single nucleotide variantPathogenicrs397514725GRCh37Chr 8, 97172752: 97172752
4GDF6NM_001001557.2(GDF6): c.746C> A (p.Ala249Glu)single nucleotide variantPathogenicrs121909352GRCh37Chr 8, 97157413: 97157413

Expression for genes affiliated with Leber Congenital Amaurosis 17

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

Pathways for genes affiliated with Leber Congenital Amaurosis 17

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1GDF3, GDF6

GO Terms for genes affiliated with Leber Congenital Amaurosis 17

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

idNameGO IDScoreTop Affiliating Genes
1SMAD protein signal transductionGO:00603959.5GDF3, GDF6
2growthGO:00400079.4GDF3, GDF6
3positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108629.3GDF3, GDF6
4cell developmentGO:00484689.3GDF3, GDF6
5regulation of MAPK cascadeGO:00434089.1GDF3, GDF6
6regulation of apoptotic processGO:00429818.8GDF3, GDF6

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

idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta receptor bindingGO:00051609.6GDF3, GDF6
2growth factor activityGO:00080839.1GDF3, GDF6
3cytokine activityGO:00051258.8GDF3, GDF6

Sources for Leber Congenital Amaurosis 17

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet