Details of Disease

General Information of Disease (ID: DISHY0YW)

Disease Name Sclerosteosis 1
Synonyms cortical hyperostosis with syndactyly; SOST; SOST1; sclerosteosis 1; sclerosteosis type 1; SOST sclerosteosis; sclerosteosis caused by mutation in SOST
Definition Any sclerosteosis in which the cause of the disease is a mutation in the SOST gene.
Disease Hierarchy
DISB8RTM: Sclerosteosis
DISHY0YW: Sclerosteosis 1
Disease Identifiers
MONDO ID
MONDO_0010016
UMLS CUI
C4551483
OMIM ID
269500
MedGen ID
1642815

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
SOST TTYRO4F Strong Autosomal recessive [1]
SOST TTYRO4F Strong Biomarker [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SOST OT0NUJIZ Strong Autosomal recessive [1]
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References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
2 Sclerostin inhibition reverses skeletal fragility in an Lrp5-deficient mouse model of OPPG syndrome.Sci Transl Med. 2013 Nov 13;5(211):211ra158. doi: 10.1126/scitranslmed.3006627.