MCID: LBR029
MIFTS: 12

Leber Congenital Amaurosis 17 malady

Genetic diseases, Rare diseases, Eye diseases, Neuronal diseases categories
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Summaries for Leber Congenital Amaurosis 17

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

Description from OMIM:46 615360

Aliases & Classifications for Leber Congenital Amaurosis 17

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Leber Congenital Amaurosis 17, Aliases & Descriptions:

Name: Leber Congenital Amaurosis 17 46


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases, Neuronal diseases


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:

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Genetic Tests for Leber Congenital Amaurosis 17

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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:

64
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:

6
id Gene Name 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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Expression patterns in normal tissues for genes affiliated with Leber Congenital Amaurosis 17

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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Products for genes affiliated with Leber Congenital Amaurosis 17

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  • Antibodies
  • Proteins
  • Lysates

Sources for Leber Congenital Amaurosis 17

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet