MCID: GLD003
MIFTS: 37

Goldmann-Favre Syndrome malady

Eye diseases, Ear diseases categories

Summaries for Goldmann-Favre Syndrome

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42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Goldmann-favre syndrome, also known as enhanced s cone syndrome, is a inherited eye disease that affects the light-sensitive part of the eye (retina). within the retina are "red," "blue," and "green" cones which allow us to see colors properly; and rods which allows us to see in dim light. people with goldmann-favre syndrome are born with an overabundance of blue cones, a reduced number of red and green cones, and few, if any, functional rods. as a result they experience an increased sensitivity to blue light, varying degrees of red and green cone vision, night blindness occurring from early life, vision loss, and retinal degeneration. goldmann-favre syndrome can be caused by mutations in the nr2e3 gene and is inherited in an autosomal recessive fashion. last updated: 5/18/2011

MalaCards: Goldmann-Favre Syndrome, also known as enhanced s-cone syndrome, is related to retinal degeneration and retinitis. An important gene associated with Goldmann-Favre Syndrome is NR2E3 (nuclear receptor subfamily 2, group E, member 3). The compound leucine have been mentioned in the context of this disorder. Affiliated tissues include retina and eye, and related mouse phenotype vision/eye.

Description from OMIM:46 268100

Aliases & Classifications for Goldmann-Favre Syndrome

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42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Eye diseases, Ear diseases


Characteristics (Orphanet epidemiological data):

48
enhanced s-cone syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Adolescence / Young adulthood; Age of death: Normal


Aliases & Descriptions:

goldmann-favre syndrome 42 48
enhanced s-cone syndrome 42 20 22 46 44 48 60
retinoschisis with early hemeralopia 42
favre hyaloideoretinal degeneration 42
retinoschisis with early nyctalopia 48


External Ids:

ICD10 via Orphanet26 H35.5
SNOMED-CT via Orphanet57 232065000
UMLS via Orphanet61 C0339541
OMIM46 268100

Related Diseases for Goldmann-Favre Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Goldmann-Favre Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1retinal degeneration30.8NRL, NR2E3
2retinitis10.6
3retinitis pigmentosa10.3
4retinoschisis10.3
5leber congenital amaurosis10.2
6adult syndrome10.2
7night blindness10.0NR2E3
8retinal disease10.0NR2E3, NRL
9retinoblastoma10.0NR2E3, NRL
10rhyns syndrome10.0NR2E3, NRL
11blindness10.0NR2E3, NRL

Graphical network of diseases related to Goldmann-Favre Syndrome:



Diseases related to goldmann-favre syndrome

Clinical Features for Goldmann-Favre Syndrome

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46OMIM
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Clinical features from OMIM:

268100

Clinical synopsis from OMIM:

268100

Drugs & Therapeutics for Goldmann-Favre Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Goldmann-Favre Syndrome

Search CenterWatch for Goldmann-Favre Syndrome

Genetic Tests for Goldmann-Favre Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Goldmann-Favre Syndrome:

id Genetic test Affiliating Genes
1 Enhanced S-Cone Syndrome20 22 NR2E3

Anatomical Context for Goldmann-Favre Syndrome

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32MalaCards
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MalaCards organs/tissues related to Goldmann-Favre Syndrome:

32
Retina, Eye

Animal Models for Goldmann-Favre Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Goldmann-Favre Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053919.1NRL, NR2E3

Publications for Goldmann-Favre Syndrome

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Genetic Variations for Goldmann-Favre Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Goldmann-Favre Syndrome:

62 (show all 15)
id Symbol AA change Variation ID SNP ID
1NR2E3p.Arg76GlnVAR_009266
2NR2E3p.Arg76TrpVAR_009267
3NR2E3p.Arg97HisVAR_010025
4NR2E3p.Arg104TrpVAR_010026
5NR2E3p.Glu121LysVAR_010027
6NR2E3p.Trp234SerVAR_010031
7NR2E3p.Arg309GlyVAR_010033
8NR2E3p.Arg311GlnVAR_010034rs28937873
9NR2E3p.Arg385ProVAR_010035
10NR2E3p.Met407LysVAR_010036
11NR2E3p.Gly88ValVAR_020839
12NR2E3p.Ala256GluVAR_020840
13NR2E3p.Leu263ProVAR_020841
14NR2E3p.Leu336ProVAR_020842
15NR2E3p.Leu353ValVAR_020843

Expression for genes affiliated with Goldmann-Favre Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Goldmann-Favre Syndrome

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Pathways for genes affiliated with Goldmann-Favre Syndrome

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Compounds for genes affiliated with Goldmann-Favre Syndrome

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44Novoseek
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Compounds related to Goldmann-Favre Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1leucine449.1NRL, NR2E3

GO Terms for genes affiliated with Goldmann-Favre Syndrome

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16Gene Ontology
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Biological processes related to Goldmann-Favre Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription from RNA polymerase II promoterGO:0063669.1NRL, NR2E3
2visual perceptionGO:0076018.8NRL, NR2E3

Molecular functions related to Goldmann-Favre Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA bindingGO:0435659.1NRL, NR2E3

Products for genes affiliated with Goldmann-Favre Syndrome

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Sources for Goldmann-Favre Syndrome

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet