MCID: SST001
MIFTS: 34

Sost-Related Sclerosing Bone Dysplasia malady

Category: Bone diseases

Aliases & Classifications for Sost-Related Sclerosing Bone Dysplasia

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Aliases & Descriptions for Sost-Related Sclerosing Bone Dysplasia:

Name: Sost-Related Sclerosing Bone Dysplasia 11 24 13
Van Buchem Disease 11 24 66
Sclerosteosis 24 66
Hyperotosis Corticalis Generalisata Familiaris 24
 
Hyperostosis Corticalis Generalisata 24
Sost Sclerosing Bone Dysplasia 24
Smith-Lemli-Opitz Syndrome 66
Hyperphosphatasemia Tarda 24

Classifications:



External Ids:

Disease Ontology11 DOID:0080036

Summaries for Sost-Related Sclerosing Bone Dysplasia

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Genetics Home Reference:24 SOST-related sclerosing bone dysplasia is a disorder of bone development characterized by excessive bone formation (hyperostosis). As a result of hyperostosis, bones throughout the body are denser and wider than normal, particularly the bones of the skull. Affected individuals typically have an enlarged jaw with misaligned teeth. People with this condition may also have a sunken appearance of the middle of the face (midface hypoplasia), bulging eyes with shallow eye sockets (ocular proptosis), and a prominent forehead. People with this condition often experience headaches because increased thickness of the skull bones increases pressure on the brain. The excessive bone formation seen in this condition seems to occur throughout a person's life, so the skeletal features become more pronounced over time. However, the excessive bone growth may only occur in certain areas.

MalaCards based summary: Sost-Related Sclerosing Bone Dysplasia, also known as van buchem disease, is related to van buchem disease and sost-related sclerosing bone dysplasias, and has symptoms including constipation, seizures and vomiting. An important gene associated with Sost-Related Sclerosing Bone Dysplasia is SOST (Sclerostin), and among its related pathways are Regulation of FZD by ubiquitination and Wnt signaling network. Affiliated tissues include skull, bone and eye, and related mouse phenotypes are craniofacial and respiratory system.

Disease Ontology:11 A hyperostosis that has material basis in a mutation in the sost gene which results in overgrowth of endosteal bone producing dense and wide bones throughout the body especially located in skull.

Related Diseases for Sost-Related Sclerosing Bone Dysplasia

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Graphical network of the top 20 diseases related to Sost-Related Sclerosing Bone Dysplasia:



Diseases related to sost-related sclerosing bone dysplasia

Symptoms for Sost-Related Sclerosing Bone Dysplasia

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UMLS symptoms related to Sost-Related Sclerosing Bone Dysplasia:


constipation, seizures, vomiting, unspecified visual loss

Drugs & Therapeutics for Sost-Related Sclerosing Bone Dysplasia

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Sost-Related Sclerosing Bone Dysplasia

Genetic Tests for Sost-Related Sclerosing Bone Dysplasia

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Anatomical Context for Sost-Related Sclerosing Bone Dysplasia

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MalaCards organs/tissues related to Sost-Related Sclerosing Bone Dysplasia:

34
Bone, Eye, Brain

FMA organs/tissues related to Sost-Related Sclerosing Bone Dysplasia:

17
Skull

Animal Models for Sost-Related Sclerosing Bone Dysplasia or affiliated genes

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MGI Mouse Phenotypes related to Sost-Related Sclerosing Bone Dysplasia:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.3LRP4, LRP5, LRP6, MEF2C, MEOX1
2MP:00053887.9GREM1, LRP4, LRP6, MEF2A, MEF2C
3MP:00028737.8LRP5, LRP6, MEF2A, MEF2C, MEOX1, SOST
4MP:00053847.6GREM1, LRP4, LRP5, LRP6, MEF2A, MEF2C
5MP:00053807.4GREM1, LRP4, LRP5, LRP6, MEF2C, MEOX1
6MP:00107686.9GREM1, LRP4, LRP5, LRP6, MEF2A, MEF2C
7MP:00053906.9GREM1, LRP4, LRP5, LRP6, MEF2C, MEOX1
8MP:00036316.8GREM1, LRP4, LRP5, LRP6, MEF2A, MEF2C
9MP:00053716.6GREM1, LRP4, LRP5, LRP6, MEF2C, MEOX1
10MP:00053786.3GREM1, LRP4, LRP5, LRP6, MEF2A, MEF2C

Publications for Sost-Related Sclerosing Bone Dysplasia

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Articles related to Sost-Related Sclerosing Bone Dysplasia:

idTitleAuthorsYear
1
SOST-Related Sclerosing Bone Dysplasias (20301406)
1993

Variations for Sost-Related Sclerosing Bone Dysplasia

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Expression for genes affiliated with Sost-Related Sclerosing Bone Dysplasia

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Search GEO for disease gene expression data for Sost-Related Sclerosing Bone Dysplasia.

Pathways for genes affiliated with Sost-Related Sclerosing Bone Dysplasia

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GO Terms for genes affiliated with Sost-Related Sclerosing Bone Dysplasia

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Cellular components related to Sost-Related Sclerosing Bone Dysplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1Wnt signalosomeGO:19909099.7LRP5, LRP6
2Wnt-Frizzled-LRP5/6 complexGO:19908519.4LRP5, LRP6

Biological processes related to Sost-Related Sclerosing Bone Dysplasia according to GeneCards Suite gene sharing:

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1Wnt signaling pathway involved in dorsal/ventral axis specificationGO:004433210.4LRP5, LRP6
2cellular response to parathyroid hormone stimulusGO:007137410.3MEF2C, SOST
3neural crest cell differentiationGO:001403310.2LRP6, MEF2C
4response to peptide hormoneGO:004343410.2LRP5, LRP6
5beta-catenin destruction complex disassemblyGO:190488610.2LRP5, LRP6
6negative regulation of protein serine/threonine kinase activityGO:007190110.2LRP5, LRP6
7positive regulation of muscle cell differentiationGO:005114910.0MEF2A, MEF2C
8positive regulation of cardiac muscle cell differentiationGO:200072710.0GREM1, MEF2C
9negative regulation of BMP signaling pathwayGO:00305149.9GREM1, SOST
10embryonic digit morphogenesisGO:00427339.8LRP4, LRP5
11cellular response to calcium ionGO:00712779.6MEF2A, MEF2C
12odontogenesis of dentin-containing toothGO:00424759.5LRP4, LRP6
13limb developmentGO:00601739.5GREM1, LRP4
14negative regulation of ossificationGO:00302799.4LRP4, MEF2C, SOST
15proximal/distal pattern formationGO:00099549.4GREM1, LRP4
16embryonic limb morphogenesisGO:00303269.3GREM1, LRP4
17dendrite morphogenesisGO:00488139.2LRP4, MEF2A
18negative regulation of canonical Wnt signaling pathwayGO:00900908.5GREM1, LRP4, LRP6, SOST
19Wnt signaling pathwayGO:00160558.4LRP4, LRP5, LRP6, SOST
20positive regulation of transcription, DNA-templatedGO:00458938.0GREM1, LRP5, LRP6, MEF2A, MEF2C, SOST
21positive regulation of transcription from RNA polymerase II promoterGO:00459447.6GREM1, LRP5, LRP6, MEF2A, MEF2C, MEOX1

Molecular functions related to Sost-Related Sclerosing Bone Dysplasia according to GeneCards Suite gene sharing:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1coreceptor activity involved in canonical Wnt signaling pathwayGO:190492810.4LRP5, LRP6
2coreceptor activity involved in Wnt signaling pathwayGO:007193610.4LRP5, LRP6
3toxin transporter activityGO:001953410.3LRP5, LRP6
4Wnt-activated receptor activityGO:004281310.3LRP5, LRP6
5Wnt-protein bindingGO:001714710.1LRP5, LRP6
6transcription factor activity, RNA polymerase II distal enhancer sequence-specific bindingGO:00037059.9MEF2A, MEF2C
7core promoter sequence-specific DNA bindingGO:00010469.9MEF2C, MEOX1
8activating transcription factor bindingGO:00336139.8MEF2A, MEF2C
9apolipoprotein bindingGO:00341859.8LRP4, LRP6
10HMG box domain bindingGO:00718379.6MEF2C, MEOX1
11transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010779.1MEF2A, MEF2C, MEOX1
12RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009789.0MEF2A, MEF2C, MEOX1
13chromatin bindingGO:00036829.0MEF2A, MEF2C, MEOX1

Sources for Sost-Related Sclerosing Bone Dysplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet