Details of Disease | DrugMAP

General Information of Disease (ID: DISCI6JU)

Disease Name	Osteosclerosis-developmental delay-craniosynostosis syndrome
Definition	This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis.
Disease Hierarchy	DISEUVBK: Syndromic craniosynostosis DISCI6JU: Osteosclerosis-developmental delay-craniosynostosis syndrome
Disease Identifiers	MONDO ID MONDO_0015800 UMLS CUI C4302818 MedGen ID 928487 Orphanet ID 178377 SNOMED CT ID 722117000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
LRP5	TT7VMG4	Supportive	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LRP5	OTCC4JPH	Supportive	Autosomal dominant	[1]
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References

1	An autosomal dominant high bone mass phenotype in association with craniosynostosis in an extended family is caused by an LRP5 missense mutation. J Bone Miner Res. 2005 Jul;20(7):1254-60. doi: 10.1359/JBMR.050303. Epub 2005 Mar 7.