SOST
MCID: SST001
MIFTS: 50

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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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 based summary: Sost-Related Sclerosing Bone Dysplasia, also known as sclerosteosis, is related to hyperostosis and osteoporosis, and has symptoms including dense/thickened skull/calvarium/cranial/facial hyperostosis, prognathism/prognathia 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 Reelin Pathway (Cajal-Retzius cells) and Colorectal Cancer Metastasis. Affiliated tissues include skull, bone and eye, 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...

Descriptions from OMIM:46 239100,607636,269500,614305

Aliases & Classifications for Sost-Related Sclerosing Bone Dysplasia

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Sources:
8Disease Ontology, 21Genetics Home Reference, 10DISEASES, 62UMLS, 9diseasecard, 20GeneTests, 46OMIM, 44Novoseek, 48Orphanet, 42NIH Rare Diseases, 22GTR, 26ICD10 via Orphanet, 35MESH via Orphanet, 63UMLS via Orphanet
See all sources

Sost-Related Sclerosing Bone Dysplasia, Aliases & Descriptions:

Name: Sost-Related Sclerosing Bone Dysplasia 8 21 10 62
Sclerosteosis 8 9 42 20 22 21 44 48 62
Van Buchem Disease 8 9 20 21 46 44 48 62
Hyperostosis Corticalis Generalisata 21 48 62
Hyperotosis Corticalis Generalisata Familiaris 21 62
Cortical Hyperostosis with Syndactyly 42 62
 
Sost Sclerosing Bone Dysplasia 21 62
Cortical Hyperostosis - Syndactyly 48
Hyperphosphatasaemia Tarda 62
Hyperphosphatasemia Tarda 21
Sost 42


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
van buchem disease:
Inheritance: Autosomal recessive
sclerosteosis:
Inheritance: Autosomal recessive


External Ids:

Disease Ontology8 DOID:0080036
ICD10 via Orphanet26 M85.2
MESH via Orphanet35 C537525
UMLS via Orphanet63 C0265301

Related Diseases for Sost-Related Sclerosing Bone Dysplasia

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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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Symptoms by clinical synopsis from OMIM:

239100

Clinical features from OMIM:

239100,607636,269500,614305

Symptoms:

48 (show all 17)
  • dense/thickened skull/calvarium/cranial/facial hyperostosis
  • prognathism/prognathia
  • enlargment of jaw/large jaw
  • clavicle absent/abnormal
  • osteosclerosis/osteopetrosis/bone condensation
  • enlarged diaphysis/diaphyses
  • cortical anomaly/thick bone cortical layer
  • autosomal recessive inheritance
  • facial palsy
  • sensorineural deafness/hearing loss
  • broad nose/nasal bridge
  • irregular length/shape of fingers
  • syndactyly of fingers/interdigital palm
  • dysplastic/thick/grooved fingernails
  • tall stature/gigantism/growth acceleration
  • ptosis
  • optic nerve anomaly/optic atrophy/anomaly of the papilla

HPO human phenotypes related to Sost-Related Sclerosing Bone Dysplasia:

(show all 29)
id Description Frequency HPO Source Accession
1 tall stature hallmark (90%) HP:0000098
2 abnormality of the mandible hallmark (90%) HP:0000277
3 abnormality of the nose hallmark (90%) HP:0000366
4 abnormality of finger hallmark (90%) HP:0001167
5 abnormality of the fingernails hallmark (90%) HP:0001231
6 abnormal cortical bone morphology hallmark (90%) HP:0003103
7 craniofacial hyperostosis hallmark (90%) HP:0004493
8 finger syndactyly hallmark (90%) HP:0006101
9 increased bone mineral density hallmark (90%) HP:0011001
10 mandibular prognathia hallmark (90%) HP:0000303
11 abnormality of the clavicles hallmark (90%) HP:0000889
12 abnormal cortical bone morphology hallmark (90%) HP:0003103
13 craniofacial hyperostosis hallmark (90%) HP:0004493
14 increased bone mineral density hallmark (90%) HP:0011001
15 sensorineural hearing impairment typical (50%) HP:0000407
16 ptosis typical (50%) HP:0000508
17 facial palsy typical (50%) HP:0010628
18 sensorineural hearing impairment typical (50%) HP:0000407
19 facial palsy typical (50%) HP:0010628
20 optic atrophy occasional (7.5%) HP:0000648
21 autosomal recessive inheritance HP:0000007
22 hearing impairment HP:0000365
23 thickened cortex of long bones HP:0000935
24 headache HP:0002315
25 elevated alkaline phosphatase HP:0003155
26 cranial hyperostosis HP:0004437
27 cranial nerve paralysis HP:0006824
28 optic atrophy from cranial nerve compression HP:0007958
29 increased bone mineral density HP:0011001

Drugs & Therapeutics for Sost-Related Sclerosing Bone Dysplasia

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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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Genetic tests related to Sost-Related Sclerosing Bone Dysplasia:

id Genetic test Affiliating Genes
1 Van Buchem Disease20
2 Sclerosteosis20 22

Anatomical Context for Sost-Related Sclerosing Bone Dysplasia

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

32
Bone, Eye, Brain

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

36
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:00028738.1LRP5, 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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Articles related to Sost-Related Sclerosing Bone Dysplasia:

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

Variations for Sost-Related Sclerosing Bone Dysplasia

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Clinvar genetic disease variations for Sost-Related Sclerosing Bone Dysplasia:

6
id Gene Name Type Significance SNP ID Assembly Location
1SOSTNM_025237.2(SOST): c.70C> T (p.Gln24Ter)single nucleotide variantPathogenicrs387906320GRCh37Chr 17, 41836040: 41836040
2SOSTNM_025237.2(SOST): c.372G> A (p.Trp124Ter)single nucleotide variantPathogenicrs104894644GRCh37Chr 17, 41832980: 41832980
3SOSTNM_025237.2(SOST): c.376C> T (p.Arg126Ter)single nucleotide variantPathogenicrs104894645GRCh37Chr 17, 41832976: 41832976
4LRP5NM_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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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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Pathways related to Sost-Related Sclerosing Bone Dysplasia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4LRP5, LRP6
29.4LRP6, LRP5
3
Show member pathways
DNA damage response (only ATM dependent)37
Wnt Signaling Pathway and Pluripotency37
9.4LRP6, LRP5
49.4LRP6, LRP5
59.4LRP6, LRP5
6
Show member pathways
Wnt Signaling Pathway NetPath37
9.1LRP5, 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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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:0302799.9LRP4, SOST
2regulation of canonical Wnt signaling pathwayGO:0608289.9LRP5, KREMEN1
3Wnt signaling pathway involved in dorsal/ventral axis specificationGO:0443329.8LRP5, LRP6
4embryonic retina morphogenesis in camera-type eyeGO:0600599.8LRP6, LRP5
5cell migration involved in gastrulationGO:0420749.8LRP5, LRP6
6branching involved in mammary gland duct morphogenesisGO:0604449.8LRP6, LRP5
7negative regulation of protein serine/threonine kinase activityGO:0719019.8LRP5, LRP6
8bone remodelingGO:0468499.7LRP6, LRP5
9embryonic camera-type eye morphogenesisGO:0485969.7LRP5, LRP6
10bone morphogenesisGO:0603499.7LRP5, LRP6
11negative regulation of canonical Wnt signaling pathwayGO:0900909.7SOST, LRP4
12gastrulation with mouth forming secondGO:0017029.7LRP5, LRP6
13positive regulation of mesenchymal cell proliferationGO:0020539.7LRP5, LRP6
14embryonic limb morphogenesisGO:0303269.7LRP5, LRP6
15response to peptide hormoneGO:0434349.6LRP5, LRP6
16endocytosisGO:0068979.6LRP5, LRP4
17odontogenesis of dentin-containing toothGO:0424759.6LRP4, LRP6
18canonical Wnt signaling pathwayGO:0600709.6LRP6, LRP5
19anterior/posterior pattern specificationGO:0099529.4LRP5, LRP6
20positive regulation of sequence-specific DNA binding transcription factor activityGO:0510919.3LRP6, LRP5
21embryonic digit morphogenesisGO:0427339.3LRP6, LRP4, 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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet