MCID: SST001
MIFTS: 33

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 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
UMLS65 C0432272

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 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 renal/urinary system and normal.

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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Diseases related to Sost-Related Sclerosing Bone Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 41)
idRelated DiseaseScoreTop Affiliating Genes
1van buchem disease12.9
2van buchem disease, type 212.9
3sost-related sclerosing bone dysplasias12.9
4sclerosteosis 210.5
5osteopetrosis, autosomal recessive 110.5
6sclerosteosis 110.5
7pituicytoma10.4
8prostate cancer10.3
9prader-willi syndrome10.3
10smith-magenis syndrome10.3
11crohn's disease10.3
12pemphigus foliaceus10.3
13pemphigus vulgaris10.3
14siderosis10.3
15primary hyperparathyroidism10.3
16hyperparathyroidism10.3
17prostatitis10.3
18duodenal ulcer10.3
19leiomyosarcoma10.3
20post-traumatic stress disorder10.3
21substance abuse10.3
22ascariasis10.3
23pancreatitis10.3
24duodenitis10.3
25pemphigus10.3
26bantu siderosis10.3
27fibromatosis10.3
28infantile digital fibromatosis10.3
29weill-marchesani syndrome 2, dominant10.2LRP5, SOST
30ulceration of vulva10.1LRP5, LRP6
31chromosomal disease10.1LRP5, SOST
32bone development disease10.0LRP5, SOST
33sost-related sclerosing bone dysplasia10.0LRP5, LRP6, SOST
34exudative vitreoretinopathy 2, x-linked10.0GREM1, LRP5
35surfactant metabolism dysfunction, pulmonary, 29.9MEF2A, MEF2C
36diazoxide-resistant focal hyperinsulinism due to sur1 deficiency9.7GREM1, LRP4
37ichthyosis with confetti9.7LRP4, LRP5, SOST
38acute maxillary sinusitis9.7LRP4, LRP5, SOST
39botulism9.4GREM1, LRP4
40sclerocornea8.8GREM1, LRP4, LRP5, LRP6, MEOX1, SOST
41worth's syndrome8.1GREM1, LRP4, LRP5, LRP6, MEF2A, MEF2C

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 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.3GREM1, LRP4, LRP6, MEF2C
2MP:00028738.2LRP5, LRP6, MEF2A, MEF2C, MEOX1, SOST
3MP:00053887.9GREM1, LRP4, LRP6, MEF2A, MEF2C
4MP:00053827.8LRP4, LRP5, LRP6, MEF2C, MEOX1
5MP:00053807.6GREM1, LRP4, LRP5, LRP6, MEF2C, MEOX1
6MP:00053847.4GREM1, LRP4, LRP5, LRP6, MEF2A, MEF2C
7MP:00053717.2GREM1, LRP4, LRP5, LRP6, MEF2C, MEOX1
8MP:00036317.0GREM1, LRP4, LRP5, LRP6, MEF2A, MEF2C
9MP:00053906.9GREM1, LRP4, LRP5, LRP6, MEF2C, MEOX1
10MP:00107686.6GREM1, LRP4, LRP5, LRP6, MEF2A, MEF2C
11MP:00053786.1GREM1, 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
Perforating granuloma annulare. (2777448)
1989

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

(show all 22)
idNameGO IDScoreTop Affiliating Genes
1cellular response to parathyroid hormone stimulusGO:007137410.3MEF2C, SOST
2beta-catenin destruction complex disassemblyGO:190488610.1LRP5, LRP6
3canonical Wnt signaling pathwayGO:006007010.1LRP5, LRP6
4muscle cell differentiationGO:004269210.1MEF2A, MEF2C
5positive regulation of cardiac muscle cell differentiationGO:200072710.0GREM1, MEF2C
6negative regulation of protein serine/threonine kinase activityGO:00719019.9LRP5, LRP6
7cellular response to calcium ionGO:00712779.9MEF2A, MEF2C
8toll-like receptor signaling pathwayGO:00022249.9MEF2A, MEF2C
9regulation of canonical Wnt signaling pathwayGO:00608289.8LRP4, LRP5
10muscle organ developmentGO:00075179.8MEF2A, MEF2C
11embryonic digit morphogenesisGO:00427339.8LRP4, LRP5
12endocytosisGO:00068979.7LRP4, LRP5
13limb developmentGO:00601739.6GREM1, LRP4
14toll-like receptor 3 signaling pathwayGO:00341389.6MEF2A, MEF2C
15TRIF-dependent toll-like receptor signaling pathwayGO:00356669.5MEF2A, MEF2C
16proximal/distal pattern formationGO:00099549.3GREM1, LRP4
17positive regulation of transcription, DNA-templatedGO:00458939.3GREM1, MEF2A, MEF2C
18MyD88-independent toll-like receptor signaling pathwayGO:00027569.2MEF2A, MEF2C
19apoptotic processGO:00069159.1GREM1, MEF2A, MEF2C
20negative regulation of canonical Wnt signaling pathwayGO:00900908.8GREM1, LRP4, LRP6
21regulation of transcription, DNA-templatedGO:00063558.7LRP6, MEF2A, MEF2C, MEOX1
22Wnt signaling pathwayGO:00160558.4LRP4, LRP5, LRP6, SOST

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

idNameGO IDScoreTop Affiliating Genes
1toxin transporter activityGO:001953410.2LRP5, LRP6
2activating transcription factor bindingGO:00336139.7MEF2A, MEF2C
3apolipoprotein bindingGO:00341859.6LRP4, LRP6
4chromatin bindingGO:00036829.0MEF2A, MEF2C, MEOX1

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