MCID: LBR029
MIFTS: 21

Leber Congenital Amaurosis 17 malady

Categories: Genetic diseases, Eye diseases, Rare 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 52 11 70 27 68
 
Lca17 11 70

Characteristics:

HPO:

64
leber congenital amaurosis 17:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 615360
Disease Ontology11 DOID:0110217
ICD1030 H35.5
MeSH39 D057130

Summaries for Leber Congenital Amaurosis 17

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UniProtKB/Swiss-Prot:70 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. An important gene associated with Leber Congenital Amaurosis 17 is GDF6 (Growth Differentiation Factor 6). Affiliated tissues include retina and eye.

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

Description from OMIM:52 615360

Related Diseases for Leber Congenital Amaurosis 17

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Symptoms & Phenotypes 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 MutationsUnknown statusNCT00821340Phase 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 1727

Anatomical Context for Leber Congenital Amaurosis 17

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MalaCards organs/tissues related to Leber Congenital Amaurosis 17:

36
Retina, Eye

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:

70
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_001001557.3(GDF6): c.595G> A (p.Ala199Thr)SNVPathogenicrs387906794GRCh37Chr 8, 97157564: 97157564
2GDF6NM_001001557.3: c.876G> YSNVPathogenicChr na, -1: -1
3GDF6NM_001001557.3(GDF6): c.169G> C (p.Asp57His)SNVPathogenicrs397514725GRCh37Chr 8, 97172752: 97172752
4GDF6NM_001001557.3(GDF6): c.746C> A (p.Ala249Glu)SNVPathogenicrs121909352GRCh37Chr 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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GO Terms for genes affiliated with Leber Congenital Amaurosis 17

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Sources for Leber Congenital Amaurosis 17

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet