MCID: GLD003
MIFTS: 24

Goldmann-Favre Syndrome malady

Rare diseases, Eye diseases categories

Aliases & Classifications for Goldmann-Favre Syndrome

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Sources:
41NIH Rare Diseases, 47Orphanet, 60UMLS, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Goldmann-Favre Syndrome, Aliases & Descriptions:

Name: Goldmann-Favre Syndrome 41 47 60
Enhanced S-Cone Syndrome 41 47 60
Retinoschisis with Early Nyctalopia 41 47
 
Retinoschisis with Early Hemeralopia 41
Favre Hyaloideoretinal Degeneration 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 47 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

47
enhanced s-cone syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood; Age of death: normal life expectancy


External Ids:

Orphanet47 53540
ICD10 via Orphanet26 H35.5
UMLS via Orphanet61 C0339541

Summaries for Goldmann-Favre Syndrome

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NIH Rare Diseases:41 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 leber congenital amaurosis and enhanced s-cone syndrome. 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.

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 all 11)
idRelated DiseaseScoreTop Affiliating Genes
1leber congenital amaurosis30.7NRL
2enhanced s-cone syndrome30.6NR2E3, NRL
3retinal degeneration30.6NRL, NR2E3
4retinitis10.6
5retinoschisis10.3
6retinitis pigmentosa10.3
7choroiditis10.3
8vasoproliferative tumor of the retina10.3
9blindness9.9NR2E3, NRL
10retinoblastoma9.9NR2E3, NRL
11retinitis pigmentosa autosomal recessive9.7NR2E3, 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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Drug clinical trials:

Search ClinicalTrials for Goldmann-Favre Syndrome

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:

31
Retina, Eye

Animal Models for Goldmann-Favre Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Goldmann-Favre Syndrome:

35
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 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:

6
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 variantPathogenicrs28937873GRCh37Chr 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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Compounds for genes affiliated with Goldmann-Favre Syndrome

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Sources:
43Novoseek
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Compounds related to Goldmann-Favre Syndrome according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1leucine439.1NR2E3, NRL

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
1transcription from RNA polymerase II promoterGO:00063669.1NR2E3, NRL
2visual perceptionGO:00076018.8NR2E3, 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

Products for genes affiliated with Goldmann-Favre Syndrome

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Sources for Goldmann-Favre Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet