SOST
MCID: SST001
MIFTS: 49

Sost-Related Sclerosing Bone Dysplasia (SOST) malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories

Summaries for Sost-Related Sclerosing Bone Dysplasia

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Sources:
9Disease Ontology, 22Genetics Home Reference, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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Genetics Home Reference:22 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: Sost-Related Sclerosing Bone Dysplasia, also known as sclerosteosis, is related to hyperostosis and osteoporosis, and has symptoms including sensorineural deafness/hearing loss, dense/thickened skull/calvarium/cranial/facial hyperostosis and enlargment of jaw/large jaw. 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 and bone, and related mouse phenotypes are craniofacial and embryogenesis.

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.

Wikipedia:66 Sust or Sost is a village in Gojal, Gilgit?Baltistan, Pakistan. It is the last town inside Pakistan on... more...

Description from OMIM:48 119550,239100,607636,269500,614305

GeneReviews summary for sost

Aliases & Classifications for Sost-Related Sclerosing Bone Dysplasia

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Sources:
9Disease Ontology, 10diseasecard, 20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 11DISEASES, 46Novoseek, 50Orphanet, 63UMLS, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet, 37MESH via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

50
cleft palate-lateral synechia syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy
van buchem disease:
Inheritance: Autosomal recessive
sclerosteosis:
Inheritance: Autosomal recessive


Aliases & Descriptions:

sost-related sclerosing bone dysplasia 9 22 11
sclerosteosis 9 10 44 21 23 22 46 50 63
van buchem disease 9 10 21 22 48 46 50 63
sost-related sclerosing bone dysplasias 20 21
cleft palate-lateral synechia syndrome 50 63
hyperostosis corticalis generalisata 22 50
hyperotosis corticalis generalisata familiaris 22
cortical hyperostosis with syndactyly 44
cortical hyperostosis - syndactyly 50
sost sclerosing bone dysplasia 22
hyperphosphatasemia tarda 22
cpls syndrome 50
sost 44


External Ids:

Disease Ontology9 DOID:0080036
ICD10 via Orphanet27 Q87.8, M85.2
SNOMED-CT via Orphanet60 403772000, 17568006
UMLS via Orphanet64 C0795898, C0265301
MESH via Orphanet37 C537525

Related Diseases for Sost-Related Sclerosing Bone Dysplasia

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18GeneCards, 19GeneDecks
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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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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

239100

Clinical features from OMIM:

119550,239100,607636,269500,614305

Symptoms:

50 (show all 28)
  • sensorineural deafness/hearing loss
  • dense/thickened skull/calvarium/cranial/facial hyperostosis
  • enlargment of jaw/large jaw
  • broad nose/nasal bridge
  • irregular length/shape of fingers
  • syndactyly of fingers/interdigital palm
  • dysplastic/thick/grooved fingernails
  • osteosclerosis/osteopetrosis/bone condensation
  • enlarged diaphysis/diaphyses
  • cortical anomaly/thick bone cortical layer
  • autosomal recessive inheritance
  • tall stature/gigantism/growth acceleration
  • facial palsy
  • ptosis
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • limited opening of the mouth
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • autosomal dominant inheritance
  • micrognathia/retrognathia/micrognathism/retrognathism
  • protruding lips
  • oral synechiae/abnormal frenulae
  • abnormal cry/voice/phonation disorder/nasal speech
  • broad cheeks/cherub-like/cherubin face
  • blepharophimosis/short palpebral fissures
  • microstomia/little mouth
  • prognathism/prognathia
  • clavicle absent/abnormal
  • hypoplastic mandibula/partial absence of the mandibula

Drugs & Therapeutics for Sost-Related Sclerosing Bone Dysplasia

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Sost-Related Sclerosing Bone Dysplasia

Drug clinical trials:

Search ClinicalTrials for Sost-Related Sclerosing Bone Dysplasia

Search NIH Clinical Center for Sost-Related Sclerosing Bone Dysplasia

Search CenterWatch for Sost-Related Sclerosing Bone Dysplasia

Genetic Tests for Sost-Related Sclerosing Bone Dysplasia

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21GeneTests, 23GTR
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Genetic tests related to Sost-Related Sclerosing Bone Dysplasia:

id Genetic test Affiliating Genes
1 Sost-Related Sclerosing Bone Dysplasias21 SOST
2 Van Buchem Disease21
3 Sclerosteosis21 23

Anatomical Context for Sost-Related Sclerosing Bone Dysplasia

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Sources:
34MalaCards, 15FMA
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MalaCards organs/tissues related to Sost-Related Sclerosing Bone Dysplasia:

34
Bone

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

15
Skull

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

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38MGI
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MGI Mouse Phenotypes related to Sost-Related Sclerosing Bone Dysplasia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.5LRP5, LRP4, LRP6, MEOX1
2MP:00053808.2LRP5, LRP4, LRP6, MEOX1
3MP:00053768.1MEOX1, SOST, LRP6, LRP4, LRP5
4MP:00028738.0LRP5, LRP6, SOST, MEOX1, KREMEN1
5MP:00053788.0MEOX1, SOST, LRP6, LRP4, LRP5
6MP:00053717.7KREMEN1, MEOX1, SOST, LRP6, LRP4, LRP5
7MP:00053907.7LRP5, LRP4, LRP6, SOST, MEOX1, KREMEN1

Publications for Sost-Related Sclerosing Bone Dysplasia

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Variations for Sost-Related Sclerosing Bone Dysplasia

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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Sost-Related Sclerosing Bone Dysplasia:

1
id Gene Name Type Significance SNP ID Assembly Location
1LRP5NM_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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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Sost-Related Sclerosing Bone Dysplasia

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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Sources:
51PathCards, 5Cell Signaling Technology, 54QIAGEN, 39NCBI BioSystems Database, 55R&D Systems, 31KEGG
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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)39
Wnt Signaling Pathway and Pluripotency39
9.4LRP6, LRP5
49.4LRP6, LRP5
59.4LRP5, LRP6
6
Show member pathways
Wnt Signaling Pathway NetPath39
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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17Gene Ontology
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Cellular components related to Sost-Related Sclerosing Bone Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1receptor complexGO:0432359.4LRP6, LRP5

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

(show all 24)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of ossificationGO:03027910.0LRP4, SOST
2regulation of canonical Wnt signaling pathwayGO:0608289.8LRP5, KREMEN1
3negative regulation of canonical Wnt signaling pathwayGO:0900909.8SOST, LRP4
4Wnt signaling pathway involved in dorsal/ventral axis specificationGO:0443329.7LRP5, LRP6
5embryonic retina morphogenesis in camera-type eyeGO:0600599.7LRP6, LRP5
6cell migration involved in gastrulationGO:0420749.7LRP5, LRP6
7branching involved in mammary gland duct morphogenesisGO:0604449.7LRP6, LRP5
8negative regulation of protein serine/threonine kinase activityGO:0719019.7LRP5, LRP6
9bone remodelingGO:0468499.7LRP6, LRP5
10embryonic camera-type eye morphogenesisGO:0485969.7LRP5, LRP6
11bone morphogenesisGO:0603499.7LRP5, LRP6
12gastrulation with mouth forming secondGO:0017029.7LRP5, LRP6
13positive regulation of mesenchymal cell proliferationGO:0020539.6LRP5, LRP6
14odontogenesis of dentin-containing toothGO:0424759.6LRP4, LRP6
15embryonic limb morphogenesisGO:0303269.6LRP5, LRP6
16endocytosisGO:0068979.6LRP5, LRP4
17response to peptide hormoneGO:0434349.6LRP5, LRP6
18canonical Wnt signaling pathwayGO:0600709.5LRP6, LRP5
19anterior/posterior pattern specificationGO:0099529.4LRP5, LRP6
20embryonic digit morphogenesisGO:0427339.3LRP6, LRP4, LRP5
21positive regulation of sequence-specific DNA binding transcription factor activityGO:0510919.3LRP6, LRP5
22positive regulation of transcription, DNA-templatedGO:0458939.2SOST, LRP6, LRP5
23positive regulation of transcription from RNA polymerase II promoterGO:0459448.6MEOX1, LRP6, LRP5
24Wnt signaling pathwayGO:0160558.5LRP5, LRP4, LRP6, SOST, KREMEN1

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

idNameGO IDScoreTop Affiliating Genes
1Wnt-protein bindingGO:0171479.4LRP6, LRP5
2toxin transporter activityGO:0195349.3LRP6, LRP5
3Wnt-activated receptor activityGO:0428139.1LRP6, 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet