MCID: GLD003
MIFTS: 23

Goldmann-Favre Syndrome malady

Categories: Rare diseases, Eye diseases

Aliases & Classifications for Goldmann-Favre Syndrome

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

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

Classifications:

Orphanet: 51 
Rare eye diseases


External Ids:

Orphanet51 53540
ICD10 via Orphanet28 H35.5
UMLS via Orphanet66 C0339541
UMLS65 C0339541, C1849394

Summaries for Goldmann-Favre Syndrome

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NIH Rare Diseases:45 Goldmann-favre syndrome, also known as the severe form of 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.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 influenza 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 eye, retina and prostate, and related mouse phenotype vision/eye.

Related Diseases for Goldmann-Favre Syndrome

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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
1interferonsPhase 1, Phase 21930
2Interferon-gammaPhase 1, Phase 2137
3Antiviral AgentsPhase 1, Phase 28071
4Anti-Infective AgentsPhase 1, Phase 217220

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
Eye, Retina, Prostate, Smooth muscle, Colon, Tongue, Endothelial

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 16)
idTitleAuthorsYear
1
Intramuscular hemangioma with phleboliths of the tongue. (25565734)
2014
2
Cholesterol-induced activation of TRPM7 regulates cell proliferation, migration, and viability of human prostate cells. (24769209)
2014
3
Heparin regulates colon cancer cell growth through p38 mitogen-activated protein kinase signalling. (19845689)
2010
4
CDKN1C mutations in HELLP/preeclamptic mothers of Beckwith-Wiedemann Syndrome (BWS) patients. (19386358)
2009
5
Malignant peripheral nerve sheath tumor with numerous signet-ring and lipoblast-like cells. (18727666)
2009
6
Association between the tryptophan hydroxylase (TPH) gene polymorphic markers and endogenous psychoses]. (20198979)
2009
7
Checkpoint with forkhead-associated and ring finger promoter hypermethylation correlates with microsatellite instability in gastric cancer. (19469003)
2009
8
bFGF induces S1P1 receptor expression and functionality in human pulmonary artery smooth muscle cells. (18773427)
2008
9
The cathepsin B death pathway contributes to TNF plus IFN-gamma-mediated human endothelial injury. (16034129)
2005
10
Aza analogues of thalidomide: synthesis and evaluation as inhibitors of tumor necrosis factor-alpha production in vitro. (11354662)
2001
11
Matrix metalloproteinases and tissue inhibitors of metalloproteinases in synovial fluids from patients with rheumatoid arthritis or osteoarthritis. (10834863)
2000
12
Chronic discoid lupus erythematosus in Thailand: direct immunofluorescence study. (8891819)
1996
13
Dendritic cells and their precursors isolated from human bronchoalveolar lavage: immunocytologic and functional properties. (8086170)
1994
14
A case of predominantly unilateral pseudoprimary hyperaldosteronism. (6979689)
1982
15
Angiokeratoma corporis diffusum universale (hereditary dystopic lipidosis). (14489903)
1961
16

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.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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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