MCID: GLD003
MIFTS: 30

Goldmann-Favre Syndrome malady

Eye, Ear categories

Summaries for Goldmann-Favre Syndrome

Sources:
43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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: Goldmann-Favre Syndrome, also known as enhanced s-cone syndrome, is related to n syndrome and retinitis pigmentosa. 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 related mouse phenotype vision/eye.

Description from OMIM:47 268100

Aliases & Classifications for Goldmann-Favre Syndrome

Sources:
43NIH Rare Diseases, 49Orphanet, 20GeneTests, 22GTR, 47OMIM, 45Novoseek, 61UMLS, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Eye, Ear


Characteristics (Orphanet epidemiological data):

49
enhanced s-cone syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Adolescence / Young adulthood; Age of death: Normal


Aliases & Descriptions:

goldmann-favre syndrome 43 49
enhanced s-cone syndrome 43 20 22 47 45 49 61
retinoschisis with early hemeralopia 43
favre hyaloideoretinal degeneration 43
retinoschisis with early nyctalopia 49


External Ids:

ICD10 via Orphanet26 H35.5
SNOMED-CT via Orphanet58 232065000
UMLS via Orphanet62 C0339541
OMIM47 268100

Related Diseases for Goldmann-Favre Syndrome

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Goldmann-Favre Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1n syndrome10.6
2retinitis pigmentosa10.3
3leber congenital amaurosis10.2
4adult syndrome10.2
5night blindness10.0NR2E3
6retinal disease10.0NRL, NR2E3
7retinal degeneration10.0NR2E3, NRL
8retinoblastoma10.0NRL, NR2E3
9rhyns syndrome10.0NRL, NR2E3
10blindness10.0NRL, NR2E3

Graphical network of diseases related to Goldmann-Favre Syndrome:



Diseases related to goldmann-favre syndrome

Clinical Features for Goldmann-Favre Syndrome

Sources:
47OMIM
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Clinical features from OMIM:

268100

Clinical synopsis from OMIM:

268100

Drugs & Therapeutics for Goldmann-Favre Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Goldmann-Favre Syndrome

Drug clinical trials:

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Search CenterWatch for Goldmann-Favre Syndrome

Genetic Tests for Goldmann-Favre Syndrome

Sources:
20GeneTests, 22GTR
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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

Sources:
33MalaCards
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MalaCards organs/tissues related to Goldmann-Favre Syndrome:

33
Retina

Animal Models for Goldmann-Favre Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Goldmann-Favre Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053919.1NRL, NR2E3

Publications for Goldmann-Favre Syndrome

Sources:
51PubMed
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Articles related to Goldmann-Favre Syndrome:

(show all 13)
idTitleAuthorsYear
1
Origin of fundus hyperautofluorescent spots and their role in retinal degeneration in a mouse model of Goldmann-Favre syndrome. (23828046)
2013
2
Morphological and functional correlates in Goldmann-Favre syndrome: a case series. (22511843)
2012
3
Retinal pathology of a patient with Goldmann-Favre syndrome. (19852574)
2009
4
NR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP). (19718767)
2009
5
A teenager with nightblindness and cystic maculopathy: enhanced S cone syndrome (Goldmann-Favre syndrome). (17109156)
2006
6
An Arg311Gln NR2E3 mutation in a family with classic Goldmann-Favre syndrome. (16024868)
2005
7
Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration. (12963616)
2003
8
Elevated macular retinoschisis associated with Goldmann-Favre syndrome successfully treated with grid laser photocoagulation. (11927864)
2002
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

Genetic Variations for Goldmann-Favre Syndrome

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Goldmann-Favre Syndrome:

63 (show all 15)
id Symbol AA change Variation 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

Expression for genes affiliated with Goldmann-Favre Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

Compounds for genes affiliated with Goldmann-Favre Syndrome

Sources:
45Novoseek
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Compounds related to Goldmann-Favre Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1leucine459.1NRL, NR2E3

GO Terms for genes affiliated with Goldmann-Favre Syndrome

Sources:
16Gene Ontology
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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:0063669.1NRL, NR2E3
2visual perceptionGO:0076018.8NRL, NR2E3

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

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA bindingGO:0435659.1NRL, NR2E3

Products for genes affiliated with Goldmann-Favre Syndrome

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Sources for Goldmann-Favre Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet