Summaries for Synostoses Syndrome

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22MalaCards
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MalaCards: Synostoses Syndrome is related to mesomelia-synostoses syndrome and mesomelia. An important gene associated with Synostoses Syndrome is NOG (noggin), and among its related pathways is TGF-beta signaling pathway. The compounds heparan sulfate and tyrosine have been mentioned in the context of this disorder. Related mouse phenotypes are reproductive system and limbs/digits/tail.

Aliases & Descriptions for Synostoses Syndrome

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7diseasecard
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synostoses syndrome 7

Related Diseases for Synostoses Syndrome

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13GeneCards, 14GeneDecks
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Graphical network of the top 20 diseases related to synostoses syndrome:



Graphical network of diseases related to synostoses syndrome

Clinical Features for Synostoses Syndrome

Drugs & Therapeutics for Synostoses Syndrome

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4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Synostoses Syndrome

Anatomical Context for Synostoses Syndrome

Phenotypes for genes affiliated with Synostoses Syndrome

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25MGI
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MGI Mouse Phenotypes related to synostoses syndrome:

25
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1reproductive system phenotypeMP:00053898.4GDF5, NOG, SULF1, FGF9
2limbs/digits/tail phenotypeMP:00053718.3GDF5, NOG, SULF1, FGF9
3skeleton phenotypeMP:00053908.1GDF5, NOG, SULF1, FGF9

Publications for genes affiliated with Synostoses Syndrome

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35PubMed
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Articles related to synostoses syndrome:

idTitleAuthorsYearAffiliating Genes
1Mesomelia-synostoses syndrome results from deletion o f SULF1 and SLCO5A1 genes at 8q13. (20602915)Isidor B.... Le Caignec C.2010SULF1, SLCO5A1
2Multiple synostoses syndrome is due to a missense mut ation in exon 2 of FGF9 gene. (19589401)Wu X.L.... Wang Z.G.2009FGF9
3Localization of a multiple synostoses-syndrome disease gene to chromosome 17q21-22. (9634519)Krakow D.... Cohn D.H.1998NOG

Expression for genes affiliated with Synostoses Syndrome

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1BioGPS
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Expression patterns in normal tissues for genes affiliated with Synostoses Syndrome

Pathways for genes affiliated with Synostoses Syndrome

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20KEGG
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Pathways related to synostoses syndrome according to GeneDecks:

idPathwayScoreTop Affiliating Genes
1TGF-beta signaling pathway209.5NOG, GDF5

Compounds for genes affiliated with Synostoses Syndrome

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32Novoseek , 18HMDB
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Compounds related to synostoses syndrome according to GeneDecks:

idCompoundScoreTop Affiliating Genes
1heparan sulfate32 18 10.5SULF1, NOG
2tyrosine32 8.1FGF9, SULF1, NOG, GDF5

GO Terms for genes affiliated with Synostoses Syndrome

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12Gene Ontology
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Cellular components related to synostoses syndrome according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:0056158.4FGF9, SULF1, NOG, GDF5

Biological processes related to synostoses syndrome according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of cell migrationGO:0303369.5NOG, SULF1
2positive regulation of epithelial cell proliferationGO:0506799.3FGF9, NOG
3embryonic limb morphogenesisGO:0303269.3GDF5, FGF9
4osteoblast differentiationGO:0016499.1NOG, FGF9
5cartilage developmentGO:0512169.1NOG, SULF1, GDF5
6embryonic skeletal system developmentGO:0487069.0SULF1, NOG, FGF9

Molecular functions related to synostoses syndrome according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1growth factor activityGO:0080839.3FGF9, GDF5

Sources for Synostoses Syndrome

2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS