MCID: GLD003
MIFTS: 39

Goldmann-Favre Syndrome malady

Genetic diseases, Rare diseases, Eye diseases categories

Summaries for Goldmann-Favre Syndrome

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44NIH Rare Diseases, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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 leber congenital amaurosis. 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:48 268100

Aliases & Classifications for Goldmann-Favre Syndrome

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44NIH Rare Diseases, 50Orphanet, 21GeneTests, 23GTR, 48OMIM, 46Novoseek, 63UMLS, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases
Orphanet: 50 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

50
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 44 50
enhanced s-cone syndrome 44 21 23 48 46 50 63
retinoschisis with early hemeralopia 44
favre hyaloideoretinal degeneration 44
retinoschisis with early nyctalopia 50


External Ids:

ICD10 via Orphanet27 H35.5
SNOMED-CT via Orphanet60 232065000
UMLS via Orphanet64 C0339541
OMIM48 268100

Related Diseases for Goldmann-Favre Syndrome

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18GeneCards, 19GeneDecks
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Diseases related to Goldmann-Favre Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1retinal degeneration30.8NRL, NR2E3
2leber congenital amaurosis30.4NRL
3retinitis10.6
4retinitis pigmentosa10.3
5retinoschisis10.3
6blindness10.0NR2E3, NRL
7retinoblastoma10.0NR2E3, NRL
8rhyns syndrome9.9NR2E3, NRL

Graphical network of diseases related to Goldmann-Favre Syndrome:



Diseases related to goldmann-favre syndrome

Symptoms for Goldmann-Favre Syndrome

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48OMIM
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Symptoms by clinical synopsis from OMIM:

268100

Clinical features from OMIM:

268100

Drugs & Therapeutics for Goldmann-Favre Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Goldmann-Favre Syndrome

Drug clinical trials:

Search ClinicalTrials for Goldmann-Favre Syndrome

Search NIH Clinical Center for Goldmann-Favre Syndrome

Search CenterWatch for Goldmann-Favre Syndrome

Genetic Tests for Goldmann-Favre Syndrome

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21GeneTests, 23GTR
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Genetic tests related to Goldmann-Favre Syndrome:

id Genetic test Affiliating Genes
1 Enhanced S-Cone Syndrome21 23 NR2E3

Anatomical Context for Goldmann-Favre Syndrome

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34MalaCards
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MalaCards organs/tissues related to Goldmann-Favre Syndrome:

34
Retina, Eye

Animal Models for Goldmann-Favre Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Goldmann-Favre Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053919.1NR2E3, NRL

Publications for Goldmann-Favre Syndrome

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53PubMed
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Articles related to Goldmann-Favre Syndrome:

(show all 13)
idTitleAuthorsYear
1
Origin of fundus hyperautofluorescent spots and their role in retinal degeneration in a mouse model of Goldmann-Favre syndrome. (23828046)
2013
2
Morphological and functional correlates in Goldmann-Favre syndrome: a case series. (22511843)
2012
3
Retinal pathology of a patient with Goldmann-Favre syndrome. (19852574)
2009
4
NR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP). (19718767)
2009
5
A teenager with nightblindness and cystic maculopathy: enhanced S cone syndrome (Goldmann-Favre syndrome). (17109156)
2006
6
An Arg311Gln NR2E3 mutation in a family with classic Goldmann-Favre syndrome. (16024868)
2005
7
Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration. (12963616)
2003
8
Elevated macular retinoschisis associated with Goldmann-Favre syndrome successfully treated with grid laser photocoagulation. (11927864)
2002
9
Optical coherence tomography in the study of the Goldmann-Favre syndrome. (10764872)
2000
10
Clinical features of Goldmann-Favre syndrome. (10463423)
1999
11
Relatively enhanced S cone function in the Goldmann-Favre syndrome. (2012146)
1991
12
Goldmann-Favre syndrome in a four-year-old-girl. (3428076)
1987
13
Histopathology of Goldmann-Favre syndrome obtained by full-thickness eye-wall biopsy. (301373)
1977

Variations for Goldmann-Favre Syndrome

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Goldmann-Favre Syndrome:

65 (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

Clinvar genetic disease variations for Goldmann-Favre Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1NR2E3NR2E3, IVS1AS, A-Csingle nucleotide variantPathogenic
2NR2E3NM_014249.3(NR2E3): c.226C> T (p.Arg76Trp)single nucleotide variantPathogenicrs104894492GRCh37Chr 15, 72103930: 72103930
3NR2E3NM_014249.3(NR2E3): c.227G> A (p.Arg76Gln)single nucleotide variantPathogenicrs104894493GRCh37Chr 15, 72103931: 72103931
4NR2E3NR2E3, 9-BP DELdeletionPathogenic
5NR2E3NM_014249.3(NR2E3): c.932G> A (p.Arg311Gln)single nucleotide variantPathogenicrs28937873GRCh37Chr 15, 72105913: 72105913

Expression for genes affiliated with Goldmann-Favre Syndrome

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Goldmann-Favre Syndrome

Search GEO for disease gene expression data for Goldmann-Favre Syndrome.

Pathways for genes affiliated with Goldmann-Favre Syndrome

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Compounds for genes affiliated with Goldmann-Favre Syndrome

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46Novoseek
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Compounds related to Goldmann-Favre Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1leucine469.1NR2E3, NRL

GO Terms for genes affiliated with Goldmann-Favre Syndrome

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17Gene 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:0063669.1NR2E3, NRL
2visual perceptionGO:0076018.8NR2E3, NRL

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

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

Products for genes affiliated with Goldmann-Favre Syndrome

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Sources for Goldmann-Favre Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet