MCID: SST001
MIFTS: 31

Sost-Related Sclerosing Bone Dysplasia malady

Bone diseases category

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 10 23 12
Van Buchem Disease 10 23 65
Sclerosteosis 23 65
Hyperotosis Corticalis Generalisata Familiaris 23
 
Hyperostosis Corticalis Generalisata 23
Sost Sclerosing Bone Dysplasia 23
Smith-Lemli-Opitz Syndrome 65
Hyperphosphatasemia Tarda 23


Classifications:



External Ids:

Disease Ontology10 DOID:0080036

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 van buchem disease, type 2. An important gene associated with Sost-Related Sclerosing Bone Dysplasia is DHCR7 (7-Dehydrocholesterol Reductase), and among its related pathways are Signaling mediated by p38-alpha and p38-beta and miRs in Muscle Cell Differentiation. Affiliated tissues include skull, bone and eye, and related mouse phenotypes are normal and muscle.

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.

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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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:

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:

38 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00028738.2LRP5, LRP6, MEF2C, MEOX1, NOG, SOST
2MP:00053697.8DHCR7, MEF2A, MEF2C, MEOX1, NOG, WNT3A
3MP:00053677.4DHCR7, GREM1, LRP4, LRP6, MEF2C, NOG
4MP:00053806.9GREM1, LRP4, LRP5, LRP6, MEF2C, MEOX1
5MP:00053826.8DHCR7, GREM1, LRP4, LRP5, LRP6, MEF2C
6MP:00053766.7DHCR7, GREM1, LRP4, LRP5, LRP6, MEOX1
7MP:00036316.6DHCR7, GREM1, LRP4, LRP5, LRP6, MEOX1
8MP:00053786.6DHCR7, LRP4, LRP5, LRP6, MEF2C, MEOX1
9MP:00053906.2GREM1, LRP4, LRP5, LRP6, MEF2C, MEOX1
10MP:00053886.2DHCR7, GREM1, LRP4, LRP6, MEF2A, MEF2C
11MP:00053716.0DHCR7, GREM1, LRP4, LRP5, LRP6, MEF2C
12MP:00107685.7DHCR7, GREM1, LRP4, LRP5, LRP6, MEF2A

Publications for Sost-Related Sclerosing Bone Dysplasia

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Variations for Sost-Related Sclerosing Bone Dysplasia

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

5 (show all 31)
id Gene Variation Type Significance SNP ID Assembly Location
1DHCR7NM_001360.2(DHCR7): c.907G> A (p.Gly303Arg)single nucleotide variantPathogenicrs142808899GRCh37Chr 11, 71148914: 71148914
2DHCR7NM_001360.2(DHCR7): c.1228G> A (p.Gly410Ser)single nucleotide variantPathogenicrs80338862GRCh37Chr 11, 71146621: 71146621
3DHCR7NM_001360.2(DHCR7): c.452G> A (p.Trp151Ter)single nucleotide variantPathogenicrs11555217GRCh37Chr 11, 71152447: 71152447
4DHCR7NM_001360.2(DHCR7): c.506C> T (p.Ser169Leu)single nucleotide variantPathogenicrs80338855GRCh37Chr 11, 71152393: 71152393
5DHCR7NM_001360.2(DHCR7): c.724C> T (p.Arg242Cys)single nucleotide variantPathogenicrs80338856GRCh37Chr 11, 71150032: 71150032
6DHCR7NM_001360.2(DHCR7): c.725G> A (p.Arg242His)single nucleotide variantPathogenicrs80338857GRCh37Chr 11, 71150031: 71150031
7DHCR7NM_001360.2(DHCR7): c.906C> G (p.Phe302Leu)single nucleotide variantPathogenicrs80338858GRCh37Chr 11, 71148915: 71148915
8DHCR7NM_001360.2(DHCR7): c.322_412delsingle nucleotide variantPathogenicrs786200926GRCh38Chr 11, 71442260: 71442260
9SOSTNM_025237.2(SOST): c.70C> T (p.Gln24Ter)single nucleotide variantPathogenicrs387906320GRCh37Chr 17, 41836040: 41836040
10SOSTSOST, IVS1DS, A-T, +3 AND/OR IVS1AS, A-C, -67single nucleotide variantPathogenic
11SOSTNM_025237.2(SOST): c.372G> A (p.Trp124Ter)single nucleotide variantPathogenicrs104894644GRCh37Chr 17, 41832980: 41832980
12SOSTNM_025237.2(SOST): c.376C> T (p.Arg126Ter)single nucleotide variantPathogenicrs104894645GRCh37Chr 17, 41832976: 41832976
13DHCR7NM_001360.2(DHCR7): c.832-1G> Csingle nucleotide variantPathogenicrs80338863GRCh37Chr 11, 71148990: 71148990
14DHCR7DHCR7, 96-BP DELdeletionPathogenic
15DHCR7DHCR7, 1-BP INS, 505CinsertionPathogenic
16DHCR7DHCR7, 1-BP INS, 586TinsertionPathogenic
17DHCR7NM_001360.2(DHCR7): c.356A> T (p.His119Leu)single nucleotide variantPathogenicrs28938174GRCh37Chr 11, 71153365: 71153365
18DHCR7NM_001360.2(DHCR7): c.730G> A (p.Gly244Arg)single nucleotide variantPathogenicrs121909764GRCh37Chr 11, 71150026: 71150026
19DHCR7NM_001360.2(DHCR7): c.744G> T (p.Trp248Cys)single nucleotide variantPathogenicrs104894212GRCh37Chr 11, 71150012: 71150012
20DHCR7NM_001360.2(DHCR7): c.278C> T (p.Thr93Met)single nucleotide variantPathogenicrs80338853GRCh37Chr 11, 71155082: 71155082
21DHCR7NM_001360.2(DHCR7): c.453G> A (p.Trp151Ter)single nucleotide variantPathogenicrs104894213GRCh37Chr 11, 71152446: 71152446
22DHCR7NM_001360.2(DHCR7): c.976G> T (p.Val326Leu)single nucleotide variantPathogenicrs80338859GRCh37Chr 11, 71146873: 71146873
23DHCR7DHCR7, TRP37TERsingle nucleotide variantPathogenic
24DHCR7NM_001360.2(DHCR7): c.1054C> T (p.Arg352Trp)single nucleotide variantPathogenicrs80338860GRCh37Chr 11, 71146795: 71146795
25DHCR7NM_001360.2(DHCR7): c.1210C> T (p.Arg404Cys)single nucleotide variantPathogenicrs61757582GRCh37Chr 11, 71146639: 71146639
26DHCR7NM_001360.2(DHCR7): c.866C> T (p.Thr289Ile)single nucleotide variantPathogenicrs121909765GRCh37Chr 11, 71148955: 71148955
27DHCR7NM_001360.2(DHCR7): c.839A> G (p.Tyr280Cys)single nucleotide variantPathogenicrs121909766GRCh37Chr 11, 71148982: 71148982
28DHCR7NM_001360.2(DHCR7): c.1055G> A (p.Arg352Gln)single nucleotide variantPathogenicrs121909768GRCh37Chr 11, 71146794: 71146794
29DHCR7NM_001360.2(DHCR7): c.151C> T (p.Pro51Ser)single nucleotide variantPathogenicrs104886035GRCh37Chr 11, 71155209: 71155209
30DHCR7NM_001360.2(DHCR7): c.841G> A (p.Val281Met)single nucleotide variantPathogenicrs398123607GRCh37Chr 11, 71148980: 71148980
31DHCR7NM_001360.2(DHCR7): c.964-1G> Csingle nucleotide variantLikely pathogenic, Pathogenicrs138659167GRCh37Chr 11, 71146886: 71146886

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
1cell surfaceGO:00099868.7GREM1, LRP4, LRP6, WNT3A

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

(show all 35)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of protein serine/threonine kinase activityGO:007190110.3LRP5, LRP6
2cellular response to parathyroid hormone stimulusGO:007137410.3MEF2C, SOST
3axis elongation involved in somitogenesisGO:009024510.2LRP6, WNT3A
4neural crest cell differentiationGO:001403310.2LRP6, MEF2C
5regulation of canonical Wnt signaling pathwayGO:006082810.2LRP4, LRP5
6muscle cell differentiationGO:004269210.1MEF2A, MEF2C
7positive regulation of muscle cell differentiationGO:005114910.1MEF2A, MEF2C
8Wnt signaling pathway involved in dorsal/ventral axis specificationGO:004433210.1LRP4, LRP5, LRP6
9positive regulation of skeletal muscle tissue developmentGO:004864310.0MEF2C, WNT3A
10hematopoietic stem cell differentiationGO:006021810.0MEOX1, SP7
11ureteric bud formationGO:006067610.0GREM1, NOG
12positive regulation of receptor internalizationGO:000209210.0GREM1, WNT3A
13negative regulation of pathway-restricted SMAD protein phosphorylationGO:00603949.9GREM1, NOG
14positive regulation of branching involved in ureteric bud morphogenesisGO:00901909.9GREM1, NOG
15proximal/distal pattern formationGO:00099549.9GREM1, LRP4
16positive regulation of protein tyrosine kinase activityGO:00610989.9GREM1, WNT3A
17positive regulation of B cell proliferationGO:00308909.8MEF2C, WNT3A
18somite developmentGO:00610539.8MEOX1, NOG
19negative regulation of osteoblast differentiationGO:00456689.8LRP5, NOG
20face morphogenesisGO:00603259.8LRP6, NOG
21positive regulation of sequence-specific DNA binding transcription factor activityGO:00510919.7LRP5, LRP6, WNT3A
22negative regulation of ossificationGO:00302799.7LRP4, MEF2C, SOST
23dendrite morphogenesisGO:00488139.7LRP4, MEF2A
24positive regulation of cardiac muscle cell differentiationGO:20007279.6GREM1, MEF2C, WNT3A
25positive regulation of canonical Wnt signaling pathwayGO:00902639.5LRP5, LRP6, WNT3A
26negative regulation of BMP signaling pathwayGO:00305149.5GREM1, NOG, SOST
27embryonic digit morphogenesisGO:00427339.3LRP4, LRP5, NOG
28limb developmentGO:00601739.3GREM1, LRP4, NOG
29canonical Wnt signaling pathwayGO:00600709.3LRP4, LRP5, LRP6, WNT3A
30Wnt signaling pathwayGO:00160559.1LRP5, LRP6, SOST, WNT3A
31palate developmentGO:00600218.7LRP6, MEF2C, WNT3A
32osteoblast differentiationGO:00016498.2MEF2C, NOG, SP7, WNT3A
33positive regulation of transcription, DNA-templatedGO:00458937.9GREM1, LRP5, LRP6, MEF2A, MEF2C, SOST
34negative regulation of canonical Wnt signaling pathwayGO:00900907.7GREM1, LRP4, LRP6, NOG, SOST, WNT3A
35positive regulation of transcription from RNA polymerase II promoterGO:00459446.2GREM1, LRP5, LRP6, MEF2A, MEF2C, MEOX1

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1toxin transporter activityGO:001953410.4LRP5, LRP6
2apolipoprotein bindingGO:003418510.1LRP4, LRP6
3receptor agonist activityGO:00480189.8GREM1, WNT3A
4Wnt-activated receptor activityGO:00428139.8LRP4, LRP5, LRP6
5activating transcription factor bindingGO:00336139.6MEF2A, MEF2C
6frizzled bindingGO:00051099.4LRP6, WNT3A
7transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010779.2MEF2A, MEF2C, MEOX1
8Wnt-protein bindingGO:00171479.1LRP4, LRP5, LRP6

Sources for Sost-Related Sclerosing Bone Dysplasia

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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