MCID: GLD003
MIFTS: 27

Goldmann-Favre Syndrome malady

Rare diseases, Eye diseases categories

Aliases & Classifications for Goldmann-Favre Syndrome

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Sources:
45NIH Rare Diseases, 51Orphanet, 65UMLS, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for Goldmann-Favre Syndrome:

Name: Goldmann-Favre Syndrome 45 51 65
Enhanced S-Cone Syndrome 45 51 65
Retinoschisis with Early Hemeralopia 45
 
Favre Hyaloideoretinal Degeneration 45
Retinoschisis with Early Nyctalopia 51


Classifications:

Orphanet: 51 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

51
enhanced s-cone syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood; Age of death: normal life expectancy


External Ids:

Orphanet51 53540
ICD10 via Orphanet28 H35.5
UMLS via Orphanet66 C0339541

Summaries for Goldmann-Favre Syndrome

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NIH Rare Diseases:45 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 based summary: Goldmann-Favre Syndrome, also known as enhanced s-cone syndrome, is related to retinitis and enhanced s-cone syndrome. An important gene associated with Goldmann-Favre Syndrome is NR2E3 (Nuclear Receptor Subfamily 2, Group E, Member 3). Affiliated tissues include retina and eye, and related mouse phenotype vision/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:

(show top 50)    (show all 66)
idRelated DiseaseScoreTop Affiliating Genes
1retinitis10.6
2enhanced s-cone syndrome10.5
3retinal degeneration10.5
4retinoschisis10.3
5cone-rod dystrophy 310.2
6macular degeneration, age-related, 210.2
7cone-rod dystrophy 810.2
8macular degeneration, age-related, 110.2
9macular degeneration, age-related, 410.2
10macular degeneration, age-related, 1210.2
11cone-rod dystrophy 1210.2
12macular dystrophy, retinal, 210.2
13macular dystrophy, retinal, 310.2
14macular degeneration, age-related, 1510.2
15macular dystrophy, dominant cystoid10.2
16retinitis pigmentosa 110.2
17macular degeneration, age-related 510.2
18cone-rod dystrophy 1510.2
19cone dystrophy 410.2
20macular degeneration, age-related, 810.2
21retinal cone dystrophy 410.2
22retinal cone dystrophy 310.2
23macular degeneration, age-related, 310.2
24cone-rod dystrophy 510.2
25retinitis pigmentosa 3010.2
26n syndrome10.2
27retinitis pigmentosa 310.2
28retinitis pigmentosa 210.2
29cone-rod dystrophy10.2
30child syndrome10.2
31leber congenital amaurosis10.2
32retinitis pigmentosa10.2
33skin disease10.2
34foster-kennedy syndrome10.2
35choroiditis10.2
36vascular skin disease10.2
37hereditary retinal dystrophy10.2
38cone dystrophy10.2
39macular holes10.2
40spiradenoma10.2
41central nervous system hereditary degenerative disease10.2
42eye degenerative disease10.2
43eye disease10.2
44fundus dystrophy10.2
45globe disease10.2
46lens disease10.2
47macular retinal edema10.2
48optic nerve disease10.2
49retinal disease10.2
50retinal vascular disease10.2

Graphical network of the top 20 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
1Interferon-gammaPhase 1, Phase 2135

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:

33
Retina, Eye

Animal Models for Goldmann-Favre Syndrome or affiliated genes

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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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Articles related to Goldmann-Favre Syndrome:

(show all 13)
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
A teenager with nightblindness and cystic maculopathy: enhanced S cone syndrome (Goldmann-Favre syndrome). (17109156)
2006
7
An Arg311Gln NR2E3 mutation in a family with classic Goldmann-Favre syndrome. (16024868)
2005
8
Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration. (12963616)
2003
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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Clinvar genetic disease variations for Goldmann-Favre Syndrome:

5
id Gene Variation 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 variantLikely 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
2positive regulation of transcription from RNA polymerase II promoterGO:00459449.1NR2E3, NRL
3visual perceptionGO:00076019.0NR2E3, NRL
4transcription from RNA polymerase II promoterGO:00063668.8NR2E3, NRL

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

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA bindingGO:00435659.1NR2E3, NRL
2transcription factor activity, sequence-specific DNA bindingGO:00037008.8NR2E3, NRL

Sources for Goldmann-Favre Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet