SOST
MCID: SST001
MIFTS: 46

Sost-Related Sclerosing Bone Dysplasia (SOST) malady

Bone, Fetal categories

Summaries for Sost-Related Sclerosing Bone Dysplasia

Sources:
8Disease Ontology, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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 osteoporosis and syndactyly, and has symptoms including syndactyly of fingers/interdigital palm, autosomal recessive inheritance and autosomal recessive inheritance. An important gene associated with Sost-Related Sclerosing Bone Dysplasia is SOST (sclerostin), and among its related pathways are Wnt signaling pathway and WNT Signaling. The compounds cystine and cysteine have been mentioned in the context of this disorder. Affiliated tissues include skull and brain, and related mouse phenotypes are skeleton and craniofacial.

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:64 Sust or Sost is a village in Gojal region of the Northern Areas of Pakistan. It is the last town inside... more...

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

GeneReviews summary for sost

Aliases & Classifications for Sost-Related Sclerosing Bone Dysplasia

Sources:
8Disease Ontology, 21Genetics Home Reference, 10DISEASES, 9diseasecard, 20GeneTests, 47OMIM, 45Novoseek, 49Orphanet, 61UMLS, 43NIH Rare Diseases, 22GTR, 19GeneReviews, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 36MESH via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Bone


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 47 45 49 61
van buchem disease 8 9 20 21 47 45 49 61
sost-related sclerosing bone dysplasias 19 20
cleft palate-lateral synechia syndrome 49 61
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
sost 43


External Ids:

Disease Ontology8 DOID:0080036
ICD10 via Orphanet26 Q87.8, M85.2
SNOMED-CT via Orphanet58 403772000, 17568006
UMLS via Orphanet62 C0795898, C0265301
MESH via Orphanet36 C537525

Related Diseases for Sost-Related Sclerosing Bone Dysplasia

Sources:
17GeneCards, 18GeneDecks
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

Clinical Features for Sost-Related Sclerosing Bone Dysplasia

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

119550,239100,607636,269500,614305

Clinical synopsis from OMIM:

239100

Symptoms:

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

Drugs & Therapeutics for Sost-Related Sclerosing Bone Dysplasia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Sources:
20GeneTests, 22GTR
See all sources

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

Sources:
33MalaCards, 14FMA
See all sources

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

33
Brain

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

14
Skull

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

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

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

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053909.5MEOX1, LRP4, NOG
2MP:00053828.6NOG, LRP5, LRP4, LRP6, MEOX1
3MP:00053808.6MEOX1, LRP6, LRP4, LRP5, NOG
4MP:00053768.3NOG, LRP5, LRP4, LRP6, MEOX1, SOST
5MP:00053788.0SOST, MEOX1, LRP6, LRP4, LRP5, NOG
6MP:00028737.7KPNA4, LRP6, LRP5, KREMEN1, NOG
7MP:00053717.6NOG, KREMEN1, LRP5, LRP4, LRP6, MEOX1

Publications for Sost-Related Sclerosing Bone Dysplasia

Sources:
51PubMed
See all sources

Articles related to Sost-Related Sclerosing Bone Dysplasia:

idTitleAuthorsYear
1
SOST-Related Sclerosing Bone Dysplasias (20301406)
1993

Genetic Variations for Sost-Related Sclerosing Bone Dysplasia

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Sost-Related Sclerosing Bone Dysplasia:

63
id Symbol AA change Variation SNP ID
1SOSTp.Cys167ArgVAR_063982

Expression for genes affiliated with Sost-Related Sclerosing Bone Dysplasia

Sources:
1BioGPS, 15Gene 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

Sources:
30KEGG, 53R&D Systems, 38NCBI BioSystems Database, 52QIAGEN
See all sources

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.4LRP5, LRP6, SOST
28.9KREMEN1, LRP5, LRP6
38.9KREMEN1, LRP5, LRP6

Compounds for genes affiliated with Sost-Related Sclerosing Bone Dysplasia

Sources:
45Novoseek
See all sources

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

idCompoundScoreTop Affiliating Genes
1cystine459.5NOG, SOST
2cysteine458.8NOG, LRP6, GPHA2, SOST

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

Sources:
16Gene Ontology
See all sources

Cellular components related to Sost-Related Sclerosing Bone Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1receptor complexGO:0432359.7LRP5, LRP6

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

(show all 24)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of ossificationGO:03027910.1LRP4, SOST
2Wnt receptor signaling pathway involved in dorsal/ventral axis specificationGO:04433210.0LRP5, LRP6
3negative regulation of protein serine/threonine kinase activityGO:07190110.0LRP5, LRP6
4embryonic retina morphogenesis in camera-type eyeGO:06005910.0LRP5, LRP6
5branching involved in mammary gland duct morphogenesisGO:06044410.0LRP5, LRP6
6bone remodelingGO:04684910.0LRP6, LRP5
7embryonic camera-type eye morphogenesisGO:04859610.0LRP5, LRP6
8bone morphogenesisGO:06034910.0LRP6, LRP5
9gastrulation with mouth forming secondGO:00170210.0LRP5, LRP6
10negative regulation of osteoblast differentiationGO:0456689.9NOG, LRP5
11negative regulation of BMP signaling pathwayGO:0305149.9SOST, NOG
12positive regulation of mesenchymal cell proliferationGO:0020539.9LRP5, LRP6
13face morphogenesisGO:0603259.9NOG, LRP6
14dorsal/ventral pattern formationGO:0099539.8LRP4, NOG
15embryonic limb morphogenesisGO:0303269.8LRP5, LRP6
16negative regulation of canonical Wnt receptor signaling pathwayGO:0900909.8SOST, LRP4, NOG
17anterior/posterior pattern specificationGO:0099529.7LRP5, LRP6
18odontogenesis of dentin-containing toothGO:0424759.7LRP4, LRP6
19regulation of canonical Wnt receptor signaling pathwayGO:0608289.7KREMEN1, LRP5
20embryonic digit morphogenesisGO:0427339.6LRP6, LRP4, NOG
21neural tube closureGO:0018439.5LRP6, NOG
22canonical Wnt receptor signaling pathwayGO:0600709.4LRP5, LRP6
23positive regulation of transcription from RNA polymerase II promoterGO:0459449.1MEOX1, LRP6, LRP5, NOG
24Wnt receptor signaling pathwayGO:0160558.6KREMEN1, LRP5, LRP4, LRP6, SOST

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

idNameGO IDScoreTop Affiliating Genes
1Wnt-protein bindingGO:0171479.7LRP5, LRP6
2toxin transporter activityGO:0195349.6LRP5, LRP6
3Wnt-activated receptor activityGO:0428139.4LRP5, LRP6

Products for genes affiliated with Sost-Related Sclerosing Bone Dysplasia

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Sost-Related Sclerosing Bone Dysplasia

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet