MCID: LBR029
MIFTS: 13

Leber Congenital Amaurosis 17 malady

Genetic diseases, Rare diseases, Eye diseases, Neuronal diseases categories

Aliases & Classifications for Leber Congenital Amaurosis 17

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Aliases & Descriptions for Leber Congenital Amaurosis 17:

Name: Leber Congenital Amaurosis 17 46 22


Classifications:



External Ids:

OMIM46 615360

Summaries for Leber Congenital Amaurosis 17

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MalaCards based summary: Leber Congenital Amaurosis 17 and has symptoms including autosomal recessive inheritance An important gene associated with Leber Congenital Amaurosis 17 is GDF6 (growth differentiation factor 6).

Description from OMIM:46 615360

Related Diseases for Leber Congenital Amaurosis 17

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Symptoms for Leber Congenital Amaurosis 17

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Symptoms by clinical synopsis from OMIM:

615360

Clinical features from OMIM:

615360

HPO human phenotypes related to Leber Congenital Amaurosis 17:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007

Drugs & Therapeutics for Leber Congenital Amaurosis 17

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Drug clinical trials:

Search ClinicalTrials for Leber Congenital Amaurosis 17

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 1722

Anatomical Context for Leber Congenital Amaurosis 17

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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:

63
id Symbol AA change Variation ID SNP ID
1GDF6p.Ala249GluVAR_046903
2GDF6p.Ala199ThrVAR_065151
3GDF6p.Asp57HisVAR_070254
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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Compounds 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
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet