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

About this section
Sources:
9Disease Ontology, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
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.

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.

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

About this section
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
See all sources

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

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

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

About this section
Sources:
48OMIM, 50Orphanet
See all sources

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

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
See all sources

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

About this section
Sources:
21GeneTests, 23GTR
See all sources

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

About this section
Sources:
34MalaCards, 15FMA
See all sources

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

About this section
Sources:
38MGI
See all sources

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

About this section

Variations for Sost-Related Sclerosing Bone Dysplasia

About this section
Sources:
1 National Center for Biotechnology Information (Clinvar)
See all sources

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

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
51PathCards, 5Cell Signaling Technology, 54QIAGEN, 39NCBI BioSystems Database, 55R&D Systems, 31KEGG
See all sources

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

About this section

GO Terms for genes affiliated with Sost-Related Sclerosing Bone Dysplasia

About this section
Sources:
17Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Sost-Related Sclerosing Bone Dysplasia

About this section
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