MCID: GLD003
MIFTS: 20

Goldmann-Favre Syndrome malady

Category: Rare diseases

Aliases & Classifications for Goldmann-Favre Syndrome

About this section

Aliases & Descriptions for Goldmann-Favre Syndrome:

Name: Goldmann-Favre Syndrome 48 68
Enhanced S-Cone Syndrome 48 68
 
Retinoschisis with Early Hemeralopia 48
Favre Hyaloideoretinal Degeneration 48

Classifications:



Summaries for Goldmann-Favre Syndrome

About this section
NIH Rare Diseases:48 Goldmann-Favre syndrome, also known as the severe form of 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.Treatment may include laser photocoagulation and medication, such as acetazolamide, dorzolamide and cyclosporin A.  Last updated: 5/19/2016

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

About this section

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 & Phenotypes for Goldmann-Favre Syndrome

About this section

Drugs & Therapeutics for Goldmann-Favre Syndrome

About this section

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

About this section

Anatomical Context for Goldmann-Favre Syndrome

About this section

MalaCards organs/tissues related to Goldmann-Favre Syndrome:

36
Retina, Eye

Publications for Goldmann-Favre Syndrome

About this section

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

About this section

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

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

Pathways for genes affiliated with Goldmann-Favre Syndrome

About this section

GO Terms for genes affiliated with Goldmann-Favre Syndrome

About this section

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

idNameGO IDScoreTop Affiliating Genes
1positive regulation of rhodopsin gene expressionGO:00458729.9NR2E3, NRL
2positive regulation of transcription from RNA polymerase II promoterGO:00459449.8NR2E3, NRL
3transcription from RNA polymerase II promoterGO:00063669.7NR2E3, NRL
4visual perceptionGO:00076019.1NR2E3, 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

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet