MCID: GLD003
MIFTS: 39

Goldmann-Favre Syndrome malady

Genetic diseases, Rare diseases, Eye diseases categories
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Summaries for Goldmann-Favre Syndrome

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NIH Rare Diseases:42 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 retinal degeneration, and has symptoms including 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.

Description from OMIM:46 268100

Aliases & Classifications for Goldmann-Favre Syndrome

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Sources:
42NIH Rare Diseases, 48Orphanet, 62UMLS, 20GeneTests, 22GTR, 46OMIM, 44Novoseek, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Goldmann-Favre Syndrome, Aliases & Descriptions:

Name: Goldmann-Favre Syndrome 42 48 62
Enhanced S-Cone Syndrome 42 20 22 46 44 48 62
Retinoschisis with Early Hemeralopia 42 62
 
Favre Hyaloideoretinal Degeneration 42 62
Retinoschisis with Early Nyctalopia 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases
Orphanet: 48 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

48
enhanced s-cone syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Adolescence / Young adulthood; Age of death: Normal


External Ids:

OMIM46 268100
ICD10 via Orphanet26 H35.5
UMLS via Orphanet63 C0339541

Related Diseases for Goldmann-Favre Syndrome

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

idRelated DiseaseScoreTop Affiliating Genes
1leber congenital amaurosis30.7NRL
2retinal degeneration30.6NRL, NR2E3
3retinitis10.7
4retinitis pigmentosa10.4
5choroiditis10.4
6retinoschisis10.4
7vasoproliferative tumor of the retina10.4
8blindness9.9NRL, NR2E3
9retinoblastoma9.9NRL, NR2E3
10rhyns syndrome9.8NR2E3, 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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Symptoms by clinical synopsis from OMIM:

268100

Clinical features from OMIM:

268100

HPO human phenotypes related to Goldmann-Favre Syndrome:

(show all 8)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 cataract HP:0000518
3 abolished electroretinogram (erg) HP:0000550
4 vitreoretinal degeneration HP:0000655
5 night blindness HP:0000662
6 edema HP:0000969
7 pigmentary retinal degeneration HP:0001146
8 hemeralopia HP:0012047

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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Genetic tests related to Goldmann-Favre Syndrome:

id Genetic test Affiliating Genes
1 Enhanced S-Cone Syndrome20 22 NR2E3

Anatomical Context for Goldmann-Favre Syndrome

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MalaCards organs/tissues related to Goldmann-Favre Syndrome:

32
Retina, Eye

Animal Models for Goldmann-Favre Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Goldmann-Favre Syndrome:

36
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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UniProtKB/Swiss-Prot genetic disease variations for Goldmann-Favre Syndrome:

64 (show all 15)
id Symbol AA change Variation ID SNP ID
1NR2E3p.Arg76GlnVAR_009266
2NR2E3p.Arg76TrpVAR_009267
3NR2E3p.Arg97HisVAR_010025
4NR2E3p.Arg104TrpVAR_010026
5NR2E3p.Glu121LysVAR_010027
6NR2E3p.Trp234SerVAR_010031
7NR2E3p.Arg309GlyVAR_010033
8NR2E3p.Arg311GlnVAR_010034rs28937873
9NR2E3p.Arg385ProVAR_010035
10NR2E3p.Met407LysVAR_010036
11NR2E3p.Gly88ValVAR_020839
12NR2E3p.Ala256GluVAR_020840
13NR2E3p.Leu263ProVAR_020841
14NR2E3p.Leu336ProVAR_020842
15NR2E3p.Leu353ValVAR_020843

Clinvar genetic disease variations for Goldmann-Favre Syndrome:

6
id Gene Name 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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Expression patterns in normal tissues for genes affiliated with Goldmann-Favre Syndrome

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:
44Novoseek
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Compounds related to Goldmann-Favre Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1leucine449.1NR2E3, NRL

GO Terms for genes affiliated with Goldmann-Favre Syndrome

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Biological processes related to Goldmann-Favre Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription from RNA polymerase II promoterGO:0063669.1NR2E3, NRL
2visual perceptionGO:0076018.8NR2E3, NRL

Molecular functions related to Goldmann-Favre Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA bindingGO:0435659.1NR2E3, 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
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet