MCID: SST001
MIFTS: 28

Sost-Related Sclerosing Bone Dysplasia malady

Bone diseases category

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 9 21 11
Van Buchem Disease 9 21 60
Sclerosteosis 21 60
Hyperotosis Corticalis Generalisata Familiaris 21
 
Hyperostosis Corticalis Generalisata 21
Sost Sclerosing Bone Dysplasia 21
Smith-Lemli-Opitz Syndrome 60
Hyperphosphatasemia Tarda 21


Classifications:

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


External Ids:

Disease Ontology9 DOID:0080036

Summaries for Sost-Related Sclerosing Bone Dysplasia

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Genetics Home Reference:21 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. 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 liver/biliary system and craniofacial.

Disease Ontology:9 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 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:

31
Bone, Eye, Brain

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

14
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:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.0DHCR7, LRP6, LRP5
2MP:00053828.5LRP5, LRP6, DHCR7, MEOX1
3MP:00053908.1LRP5, LRP6, SOST, MEOX1, KREMEN1
4MP:00028738.0KREMEN1, MEOX1, SOST, LRP6, LRP5
5MP:00053788.0MEOX1, DHCR7, SOST, LRP6, LRP5
6MP:00053767.8LRP5, LRP6, SOST, DHCR7, MEOX1
7MP:00053717.7KREMEN1, MEOX1, DHCR7, SOST, LRP6, LRP5

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:

6 (show all 19)
id Gene Variation Type Significance SNP ID Assembly Location
1DHCR7NM_001360.2(DHCR7): c.506C> T (p.Ser169Leu)single nucleotide variantPathogenicrs80338855GRCh37Chr 11, 71152393: 71152393
2DHCR7NM_001360.2(DHCR7): c.724C> T (p.Arg242Cys)single nucleotide variantPathogenicrs80338856GRCh37Chr 11, 71150032: 71150032
3DHCR7NM_001360.2(DHCR7): c.725G> A (p.Arg242His)single nucleotide variantPathogenicrs80338857GRCh37Chr 11, 71150031: 71150031
4DHCR7NM_001360.2(DHCR7): c.906C> G (p.Phe302Leu)single nucleotide variantPathogenicrs80338858GRCh37Chr 11, 71148915: 71148915
5SOSTNM_025237.2(SOST): c.70C> T (p.Gln24Ter)single nucleotide variantPathogenicrs387906320GRCh37Chr 17, 41836040: 41836040
6SOSTNM_025237.2(SOST): c.372G> A (p.Trp124Ter)single nucleotide variantPathogenicrs104894644GRCh37Chr 17, 41832980: 41832980
7SOSTNM_025237.2(SOST): c.376C> T (p.Arg126Ter)single nucleotide variantPathogenicrs104894645GRCh37Chr 17, 41832976: 41832976
8LRP5NM_002335.3(LRP5): c.724G> A (p.Ala242Thr)single nucleotide variantPathogenicrs121908670GRCh37Chr 11, 68131252: 68131252
9DHCR7NM_001360.2(DHCR7): c.832-1G> Csingle nucleotide variantPathogenicrs80338863GRCh37Chr 11, 71148990: 71148990
10DHCR7NM_001360.2(DHCR7): c.356A> T (p.His119Leu)single nucleotide variantPathogenicrs28938174GRCh37Chr 11, 71153365: 71153365
11DHCR7NM_001360.2(DHCR7): c.730G> A (p.Gly244Arg)single nucleotide variantPathogenicrs121909764GRCh37Chr 11, 71150026: 71150026
12DHCR7NM_001360.2(DHCR7): c.744G> T (p.Trp248Cys)single nucleotide variantPathogenicrs104894212GRCh37Chr 11, 71150012: 71150012
13DHCR7NM_001360.2(DHCR7): c.453G> A (p.Trp151Ter)single nucleotide variantPathogenicrs104894213GRCh37Chr 11, 71152446: 71152446
14DHCR7NM_001360.2(DHCR7): c.976G> T (p.Val326Leu)single nucleotide variantPathogenicrs80338859GRCh37Chr 11, 71146873: 71146873
15DHCR7NM_001360.2(DHCR7): c.1054C> T (p.Arg352Trp)single nucleotide variantPathogenicrs80338860GRCh37Chr 11, 71146795: 71146795
16DHCR7NM_001360.2(DHCR7): c.1210C> T (p.Arg404Cys)single nucleotide variantPathogenicrs61757582GRCh37Chr 11, 71146639: 71146639
17DHCR7NM_001360.2(DHCR7): c.866C> T (p.Thr289Ile)single nucleotide variantPathogenicrs121909765GRCh37Chr 11, 71148955: 71148955
18DHCR7NM_001360.2(DHCR7): c.839A> G (p.Tyr280Cys)single nucleotide variantPathogenicrs121909766GRCh37Chr 11, 71148982: 71148982
19DHCR7NM_001360.2(DHCR7): c.1055G> A (p.Arg352Gln)single nucleotide variantPathogenicrs121909768GRCh37Chr 11, 71146794: 71146794

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 Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4LRP6, LRP5
29.4LRP6, LRP5
3
Show member pathways
DNA damage response (only ATM dependent)36
Wnt Signaling Pathway and Pluripotency36
9.4LRP6, LRP5
49.4LRP6, LRP5
59.4LRP5, LRP6
6
Show member pathways
Wnt Signaling Pathway NetPath36
9.0LRP5, LRP6, SOST
78.9KREMEN1, LRP6, LRP5
88.9KREMEN1, LRP6, LRP5

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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1receptor complexGO:00432359.4LRP6, LRP5
2endoplasmic reticulumGO:00057838.7DHCR7, LRP6, LRP5

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

(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:00443329.7LRP5, LRP6
3embryonic retina morphogenesis in camera-type eyeGO:00600599.7LRP6, LRP5
4cell migration involved in gastrulationGO:00420749.7LRP5, LRP6
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:00485969.7LRP6, LRP5
9bone morphogenesisGO:00603499.6LRP6, LRP5
10gastrulation with mouth forming secondGO:00017029.6LRP5, LRP6
11positive regulation of mesenchymal cell proliferationGO:00020539.6LRP6, LRP5
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:00099529.3LRP6, LRP5
17positive regulation of sequence-specific DNA binding transcription factor activityGO:00510919.1LRP5, LRP6
18positive regulation of transcription, DNA-templatedGO:00458939.1LRP5, LRP6, SOST
19positive regulation of transcription from RNA polymerase II promoterGO:00459448.9MEOX1, LRP6, LRP5
20Wnt signaling pathwayGO:00160558.8KREMEN1, SOST, LRP6, LRP5

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

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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet