MCID: GLD003
MIFTS: 26

Goldmann-Favre Syndrome

Categories: Rare diseases

Aliases & Classifications for Goldmann-Favre Syndrome

MalaCards integrated aliases for Goldmann-Favre Syndrome:

Name: Goldmann-Favre Syndrome 49 28 69
Enhanced S-Cone Syndrome 49 69
Retinoschisis with Early Hemeralopia 49
Favre Hyaloideoretinal Degeneration 49

Classifications:



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Summaries for Goldmann-Favre Syndrome

NIH Rare Diseases : 49 Goldmann-Favre syndrome, also known as the severe form of enhanced S-cone syndrome, is a inheritedeye 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 retinal degeneration. An important gene associated with Goldmann-Favre Syndrome is NR2E3 (Nuclear Receptor Subfamily 2 Group E Member 3). The drugs interferons and Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include retina and eye.

Related Diseases for Goldmann-Favre Syndrome

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

# Related Disease Score Top Affiliating Genes
1 enhanced s-cone syndrome 32.1 NR2E3 NRL
2 retinal degeneration 29.8 NR2E3 NRL
3 retinitis pigmentosa 29.2 NR2E3 NRL
4 retinitis 10.4
5 retinitis pigmentosa 27 10.3
6 retinoschisis 1, x-linked, juvenile 10.1
7 leber congenital amaurosis 4 10.1
8 choroiditis 10.1
9 vasoproliferative tumor of the retina 10.1
10 achromatopsia 9.6 NR2E3 NRL

Graphical network of the top 20 diseases related to Goldmann-Favre Syndrome:



Diseases related to Goldmann-Favre Syndrome

Symptoms & Phenotypes for Goldmann-Favre Syndrome

Drugs & Therapeutics for Goldmann-Favre Syndrome

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 interferons Phase 1, Phase 2
2 Anti-Infective Agents Phase 1, Phase 2
3 Interferon-gamma Phase 1, Phase 2
4 Antiviral Agents Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Interferon Gamma-1b Administered Topically for Macular Edema/Intraretinal Schisis Cysts in Rod-Cone Dystrophy (RCD) and Enhanced S-Cone Syndrome (ESCS) Suspended NCT02338973 Phase 1, Phase 2 Interferon gamma-1b
2 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940

Search NIH Clinical Center for Goldmann-Favre Syndrome

Genetic Tests for Goldmann-Favre Syndrome

Genetic tests related to Goldmann-Favre Syndrome:

# Genetic test Affiliating Genes
1 Goldmann-Favre Syndrome 28

Anatomical Context for Goldmann-Favre Syndrome

MalaCards organs/tissues related to Goldmann-Favre Syndrome:

38
Retina, Eye

Publications for Goldmann-Favre Syndrome

Articles related to Goldmann-Favre Syndrome:

(show all 16)
# Title Authors Year
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

ClinVar genetic disease variations for Goldmann-Favre Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NR2E3 NR2E3, 9-BP DEL deletion Pathogenic
2 NR2E3 NR2E3, IVS1AS, A-C single nucleotide variant Pathogenic
3 NR2E3 NM_014249.3(NR2E3): c.226C> T (p.Arg76Trp) single nucleotide variant Pathogenic rs104894492 GRCh37 Chromosome 15, 72103930: 72103930
4 NR2E3 NM_014249.3(NR2E3): c.932G> A (p.Arg311Gln) single nucleotide variant Pathogenic/Likely pathogenic rs28937873 GRCh37 Chromosome 15, 72105913: 72105913
5 NRL NM_006177.3(NRL): c.91C> T (p.Arg31Ter) single nucleotide variant Pathogenic rs762991211 GRCh37 Chromosome 14, 24551967: 24551967

Expression for Goldmann-Favre Syndrome

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

Pathways for Goldmann-Favre Syndrome

GO Terms for Goldmann-Favre Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.32 NR2E3 NRL
2 transcription by RNA polymerase II GO:0006366 9.26 NR2E3 NRL
3 response to stimulus GO:0050896 9.16 NR2E3 NRL
4 visual perception GO:0007601 8.96 NR2E3 NRL
5 positive regulation of rhodopsin gene expression GO:0045872 8.62 NR2E3 NRL

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding transcription factor activity GO:0003700 9.26 NR2E3 NRL
2 sequence-specific DNA binding GO:0043565 9.16 NR2E3 NRL
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 8.96 NR2E3 NRL
4 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding GO:0001077 8.62 NR2E3 NRL

Sources for Goldmann-Favre Syndrome

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9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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32 ICD10
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50 NINDS
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65 SNOMED-CT via HPO
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67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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