Details of Disease

General Information of Disease (ID: DISB8RTM)

Disease Name Sclerosteosis
Synonyms cortical hyperostosis with syndactyly; cortical hyperostosis-syndactyly syndrome
Definition
Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure.
Disease Hierarchy
DISYKSRF: Genetic disease
DIS60EOE: Hyperostosis
DISB8RTM: Sclerosteosis
Disease Identifiers
MONDO ID
MONDO_0017838
MESH ID
C537525
UMLS CUI
C0265301
MedGen ID
120530
Orphanet ID
3152
SNOMED CT ID
17568006

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
LRP5 TT7VMG4 Strong Genetic Variation [1]
SOST TTYRO4F Strong Biomarker [2]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
LRP4 OTO4M459 Supportive Autosomal recessive [3]
MEOX1 OTJEMT2D Strong Biomarker [4]
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References

1 Sclerostin neutralization unleashes the osteoanabolic effects of Dkk1 inhibition.JCI Insight. 2018 Jun 7;3(11):e98673. doi: 10.1172/jci.insight.98673. eCollection 2018 Jun 7.
2 Anatomical similarity between the Sost-knockout mouse and sclerosteosis in humans.Anat Rec (Hoboken). 2020 Sep;303(9):2295-2308. doi: 10.1002/ar.24318. Epub 2019 Dec 17.
3 Bone overgrowth-associated mutations in the LRP4 gene impair sclerostin facilitator function. J Biol Chem. 2011 Jun 3;286(22):19489-500. doi: 10.1074/jbc.M110.190330. Epub 2011 Apr 6.
4 A 52-kb deletion in the SOST-MEOX1 intergenic region on 17q12-q21 is associated with van Buchem disease in the Dutch population.Am J Med Genet. 2002 Jun 15;110(2):144-52. doi: 10.1002/ajmg.10401.