Details of Disease

General Information of Disease (ID: DIS81RQ9)

• Disease Name: Autosomal dominant osteosclerosis, Worth type
• Synonyms: hyperostosis corticalis generalisata, benign form of Worth, with torus palatinus; osteosclerosis, autosomal dominant, Worth type; VBCH2; Van Buchem disease type 2; endosteal hyperostosis, autosomal dominant; osteosclerosis of the skull and enlarged mandible; osteosclerosis, autosomal dominant; Van Buchem disease, type 2; hyperostosis corticalis generalisata, benign form of Worth with torus palatinus; autosomal dominant endosteal hyperostosis; Worth syndrome; Worth's syndrome; Ostosclrose autosomique dominante type Worth; autosomal dominant osteosclerosis; benign form of Worth hyperostosis corticalis generalisata with torus platinus; endosteal hyperostosis, Worth type; hyperostosis, endosteal
• Definition: A sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture.
• Disease Hierarchy:
  DIS60EOE: Hyperostosis
  DIS5Z8U6: Skeletal dysplasia
  DIS81RQ9: Autosomal dominant osteosclerosis, Worth type
• Disease Identifiers:
  MONDO ID: MONDO_0007764
  MESH ID: C536748
  UMLS CUI: C0432273
  OMIM ID: 144750
  MedGen ID: 140932
  Orphanet ID: 2790
  SNOMED CT ID: 254131007

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
LRP5	TT7VMG4	Strong	GermlineCausalMutation	[1]
LRP5	TT7VMG4	Definitive	Autosomal dominant	[1]

This Disease Is Related to 1 DOT Molecule(s)

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

References

• [1] Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density. Am J Hum Genet. 2003 Mar;72(3):763-71. doi: 10.1086/368277. Epub 2003 Feb 10.