MCID: GLD003
MIFTS: 20

Goldmann-Favre Syndrome malady

Category: Rare diseases

Aliases & Classifications for Goldmann-Favre Syndrome

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Aliases & Descriptions for Goldmann-Favre Syndrome:

Name: Goldmann-Favre Syndrome 47 67
Enhanced S-Cone Syndrome 47 67
 
Retinoschisis with Early Hemeralopia 47
Favre Hyaloideoretinal Degeneration 47

Classifications:



Summaries for Goldmann-Favre Syndrome

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MalaCards based summary: Goldmann-Favre Syndrome, also known as enhanced s-cone syndrome, is related to enhanced s-cone syndrome and retinitis. An important gene associated with Goldmann-Favre Syndrome is NR2E3 (Nuclear Receptor Subfamily 2 Group E Member 3). Affiliated tissues include retina and eye.

Related Diseases for Goldmann-Favre Syndrome

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Diseases related to Goldmann-Favre Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1enhanced s-cone syndrome11.7
2retinitis10.3
3retinal degeneration10.3
4retinoschisis10.0
5retinitis pigmentosa10.0
6choroiditis10.0
7enterovesical fistula9.5NR2E3, NRL
8scar contracture9.5NR2E3, NRL
9retinitis pigmentosa 379.5NR2E3, NRL
10localized scleroderma9.3NR2E3, 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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Drugs & Therapeutics for Goldmann-Favre Syndrome

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Drugs for Goldmann-Favre Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1interferonsPhase 1, Phase 22137
2Interferon-gammaPhase 1, Phase 2145
3Antiviral AgentsPhase 1, Phase 29732
4Anti-Infective AgentsPhase 1, Phase 221402

Interventional clinical trials:

idNameStatusNCT IDPhase
1Interferon Gamma-1b Administered Topically for Macular Edema/Intraretinal Schisis Cysts in Rod-Cone Dystrophy (RCD) and Enhanced S-Cone Syndrome (ESCS)RecruitingNCT02338973Phase 1, Phase 2
2Inherited Retinal Degenerative Disease RegistryRecruitingNCT02435940

Search NIH Clinical Center for Goldmann-Favre Syndrome

Genetic Tests for Goldmann-Favre Syndrome

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Anatomical Context for Goldmann-Favre Syndrome

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MalaCards organs/tissues related to Goldmann-Favre Syndrome:

35
Retina, Eye

Animal Models for Goldmann-Favre Syndrome or affiliated genes

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Publications for Goldmann-Favre Syndrome

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Articles related to Goldmann-Favre Syndrome:

(show all 16)
idTitleAuthorsYear
1
A novel mutation in the NR2E3 gene associated with Goldmann-Favre syndrome and vasoproliferative tumor of the retina. (24891813)
2014
2
Origin of fundus hyperautofluorescent spots and their role in retinal degeneration in a mouse model of Goldmann-Favre syndrome. (23828046)
2013
3
Morphological and functional correlates in Goldmann-Favre syndrome: a case series. (22511843)
2012
4
Spontaneous resolution of macular schisis in goldmann favre syndrome. (25389691)
2011
5
Retinal pathology of a patient with Goldmann-Favre syndrome. (19852574)
2009
6
NR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP). (19718767)
2009
7
Choroidal neovascularization associated with goldmann-favre syndrome. (25390220)
2007
8
A teenager with nightblindness and cystic maculopathy: enhanced S cone syndrome (Goldmann-Favre syndrome). (17109156)
2006
9
An Arg311Gln NR2E3 mutation in a family with classic Goldmann-Favre syndrome. (16024868)
2005
10
Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration. (12963616)
2003
11
Elevated macular retinoschisis associated with Goldmann-Favre syndrome successfully treated with grid laser photocoagulation. (11927864)
2002
12
Optical coherence tomography in the study of the Goldmann-Favre syndrome. (10764872)
2000
13
Clinical features of Goldmann-Favre syndrome. (10463423)
1999
14
Relatively enhanced S cone function in the Goldmann-Favre syndrome. (2012146)
1991
15
Goldmann-Favre syndrome in a four-year-old-girl. (3428076)
1987
16
Histopathology of Goldmann-Favre syndrome obtained by full-thickness eye-wall biopsy. (301373)
1977

Variations for Goldmann-Favre Syndrome

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Clinvar genetic disease variations for Goldmann-Favre Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NR2E3NR2E3, IVS1AS, A-CSNVPathogenicChr na, -1: -1
2NR2E3NM_014249.3(NR2E3): c.227G> A (p.Arg76Gln)SNVPathogenicrs104894493GRCh37Chr 15, 72103931: 72103931
3NR2E3NM_014249.3(NR2E3): c.932G> A (p.Arg311Gln)SNVLikely pathogenic, Pathogenicrs28937873GRCh37Chr 15, 72105913: 72105913

Expression for genes affiliated with Goldmann-Favre Syndrome

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

Pathways for genes affiliated with Goldmann-Favre Syndrome

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GO Terms for genes affiliated with Goldmann-Favre Syndrome

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Biological processes related to Goldmann-Favre Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of rhodopsin gene expressionGO:00458729.8NR2E3, NRL
2transcription from RNA polymerase II promoterGO:00063669.3NR2E3, NRL
3positive regulation of transcription from RNA polymerase II promoterGO:00459449.1NR2E3, NRL
4visual perceptionGO:00076019.0NR2E3, NRL

Molecular functions related to Goldmann-Favre Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transcription factor activity, sequence-specific DNA bindingGO:00037009.1NR2E3, NRL

Sources for Goldmann-Favre Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet