SOST
MCID: SST001
MIFTS: 49

Sost-Related Sclerosing Bone Dysplasia (SOST) malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories
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Summaries for Sost-Related Sclerosing Bone Dysplasia

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Sources:
8Disease Ontology, 21Genetics Home Reference, 65Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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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: 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:8 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:65 Sust or Sost is a village in Gojal, Gilgit?Baltistan, Pakistan. It is the last town inside Pakistan on... more...

Description from OMIM:47 119550,239100,607636,269500,614305

GeneReviews summary for sost

Aliases & Classifications for Sost-Related Sclerosing Bone Dysplasia

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Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 62UMLS, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet, 36MESH 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):

49
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 8 21 10
sclerosteosis 8 9 43 20 22 21 45 49 62
van buchem disease 8 9 20 21 47 45 49 62
sost-related sclerosing bone dysplasias 19 20
cleft palate-lateral synechia syndrome 49 62
hyperostosis corticalis generalisata 21 49
hyperotosis corticalis generalisata familiaris 21
cortical hyperostosis with syndactyly 43
cortical hyperostosis - syndactyly 49
sost sclerosing bone dysplasia 21
hyperphosphatasemia tarda 21
cpls syndrome 49
sost 43


External Ids:

Disease Ontology8 DOID:0080036
ICD10 via Orphanet26 Q87.8, M85.2
SNOMED-CT via Orphanet59 403772000, 17568006
UMLS via Orphanet63 C0795898, C0265301
MESH via Orphanet36 C537525

Related Diseases for Sost-Related Sclerosing Bone Dysplasia

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Sources:
17GeneCards, 18GeneDecks
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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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Sources:
47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

239100

Clinical features from OMIM:

119550,239100,607636,269500,614305

Symptoms:

49 (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:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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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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20GeneTests, 22GTR
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Genetic tests related to Sost-Related Sclerosing Bone Dysplasia:

id Genetic test Affiliating Genes
1 Sost-Related Sclerosing Bone Dysplasias20 SOST
2 Van Buchem Disease20
3 Sclerosteosis20 22

Anatomical Context for Sost-Related Sclerosing Bone Dysplasia

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33MalaCards, 14FMA
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MalaCards organs/tissues related to Sost-Related Sclerosing Bone Dysplasia:

33
Bone

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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Sources:
37MGI
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MGI Mouse Phenotypes related to Sost-Related Sclerosing Bone Dysplasia:

37
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, 15Gene 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:
50PathCards, 5Cell Signaling Technology, 53QIAGEN, 38NCBI BioSystems Database, 54R&D Systems, 30KEGG
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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
9.4LRP6, LRP5
49.4LRP6, LRP5
59.4LRP5, LRP6
6
Show member pathways
Wnt Signaling Pathway NetPath38
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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Sources:
16Gene 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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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Sost-Related Sclerosing Bone Dysplasia

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet