MCID: SST001
MIFTS: 33

Sost-Related Sclerosing Bone Dysplasia malady

Bone diseases category

Summaries for Sost-Related Sclerosing Bone Dysplasia

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Genetics Home Reference:23 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 hyperostosis, endosteal. An important gene associated with Sost-Related Sclerosing Bone Dysplasia is SOST (sclerostin), and among its related pathways are Wnt / Hedgehog / Notch and Colorectal Cancer Metastasis. Affiliated tissues include skull, bone and eye, and related mouse phenotypes are craniofacial and growth/size/body.

Disease Ontology:10 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.

Aliases & Classifications for Sost-Related Sclerosing Bone Dysplasia

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Sost-Related Sclerosing Bone Dysplasia, Aliases & Descriptions:

Name: Sost-Related Sclerosing Bone Dysplasia 10 23 12 62
Van Buchem Disease 10 23 62
Hyperotosis Corticalis Generalisata Familiaris 23 62
Hyperostosis Corticalis Generalisata 23 62
Sost Sclerosing Bone Dysplasia 23 62
 
Sclerosteosis 23 62
Cortical Hyperostosis with Syndactyly 62
Hyperphosphatasaemia Tarda 62
Hyperphosphatasemia Tarda 23


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Bone diseases


External Ids:

Disease Ontology10 DOID:0080036

Related Diseases for Sost-Related Sclerosing Bone Dysplasia

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Graphical network of 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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Drugs & Therapeutics for Sost-Related Sclerosing Bone Dysplasia

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Drug clinical trials:

Search ClinicalTrials for Sost-Related Sclerosing Bone Dysplasia

Search 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:

33
Bone, Eye, Brain

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

16
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:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.6LRP5, LRP6, MEOX1
2MP:00053788.5MEOX1, LRP5, LRP6, SOST
3MP:00053718.0LRP5, LRP6, SOST, MEOX1, KREMEN1
4MP:00053907.9KREMEN1, MEOX1, SOST, LRP6, LRP5
5MP:00028737.8SOST, LRP5, KREMEN1, MEOX1, LRP6

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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Clinvar genetic disease variations for Sost-Related Sclerosing Bone Dysplasia:

7
id Gene Variation Type Significance SNP ID Assembly Location
1SOSTNM_025237.2(SOST): c.70C> T (p.Gln24Ter)single nucleotide variantPathogenicrs387906320GRCh37Chr 17, 41836040: 41836040
2SOSTNM_025237.2(SOST): c.372G> A (p.Trp124Ter)single nucleotide variantPathogenicrs104894644GRCh37Chr 17, 41832980: 41832980
3SOSTNM_025237.2(SOST): c.376C> T (p.Arg126Ter)single nucleotide variantPathogenicrs104894645GRCh37Chr 17, 41832976: 41832976
4LRP5NM_002335.3(LRP5): c.724G> A (p.Ala242Thr)single nucleotide variantPathogenicrs121908670GRCh37Chr 11, 68131252: 68131252

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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Pathways related to Sost-Related Sclerosing Bone Dysplasia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4LRP6, LRP5
29.4LRP6, LRP5
3
Show member pathways
DNA damage response (only ATM dependent)38
Wnt Signaling Pathway and Pluripotency38
9.4LRP5, LRP6
49.4LRP6, LRP5
59.4LRP6, LRP5
6
Show member pathways
Wnt Signaling Pathway NetPath38
9.0LRP5, SOST, LRP6
78.9KREMEN1, LRP6, LRP5
88.9LRP5, LRP6, KREMEN1

Compounds 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/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1receptor complexGO:00432359.4LRP6, LRP5

Biological processes related to Sost-Related Sclerosing Bone Dysplasia according to GeneCards/GeneDecks:

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1regulation of canonical Wnt signaling pathwayGO:00608289.8KREMEN1, LRP5
2Wnt signaling pathway involved in dorsal/ventral axis specificationGO:00443329.7LRP6, LRP5
3embryonic retina morphogenesis in camera-type eyeGO:00600599.7LRP5, LRP6
4cell migration involved in gastrulationGO:00420749.7LRP6, LRP5
5branching involved in mammary gland duct morphogenesisGO:00604449.7LRP6, LRP5
6negative regulation of protein serine/threonine kinase activityGO:00719019.7LRP6, LRP5
7bone remodelingGO:00468499.7LRP5, LRP6
8embryonic camera-type eye morphogenesisGO:00485969.7LRP5, LRP6
9bone morphogenesisGO:00603499.6LRP5, LRP6
10gastrulation with mouth forming secondGO:00017029.6LRP5, LRP6
11positive regulation of mesenchymal cell proliferationGO:00020539.6LRP5, LRP6
12embryonic limb morphogenesisGO:00303269.6LRP6, LRP5
13response to peptide hormoneGO:00434349.5LRP5, LRP6
14embryonic digit morphogenesisGO:00427339.5LRP6, LRP5
15canonical Wnt signaling pathwayGO:00600709.4LRP6, LRP5
16anterior/posterior pattern specificationGO:00099529.3LRP5, LRP6
17positive regulation of sequence-specific DNA binding transcription factor activityGO:00510919.1LRP5, LRP6
18positive regulation of transcription, DNA-templatedGO:00458939.1LRP6, LRP5, SOST
19positive regulation of transcription from RNA polymerase II promoterGO:00459448.9MEOX1, LRP6, LRP5
20Wnt signaling pathwayGO:00160558.8LRP6, LRP5, SOST, KREMEN1

Molecular functions related to Sost-Related Sclerosing Bone Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Wnt-protein bindingGO:00171479.4LRP6, LRP5
2toxin transporter activityGO:00195349.3LRP6, LRP5
3Wnt-activated receptor activityGO:00428139.1LRP6, LRP5

Products for genes affiliated with Sost-Related Sclerosing Bone Dysplasia

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Sources for Sost-Related Sclerosing Bone Dysplasia

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet