Details of Disease

General Information of Disease (ID: DISVIILK)

• Disease Name: Caffey disease
• Synonyms: Caffey disease; infantile cortical hyperostosis; cortical congenital hyperostosis
• Definition: Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described.
• Disease Hierarchy:
  DIS60EOE: Hyperostosis
  DISU0N46: Neonatal osteosclerotic dysplasia
  DISTZXME: Bone inflammation disease
  DISVIILK: Caffey disease
• Disease Identifiers:
  MONDO ID: MONDO_0007244
  MESH ID: D006958
  UMLS CUI: C0020497
  OMIM ID: 114000
  MedGen ID: 43781
  Orphanet ID: 1310
  SNOMED CT ID: 24752008

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC37A2	DTU58HL	Strong	Biomarker	[1]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COL1A1	OTI31178	Definitive	Autosomal dominant	[2]

References

• [1] Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes.PLoS Genet. 2016 May 17;12(5):e1006037. doi: 10.1371/journal.pgen.1006037. eCollection 2016 May.
• [2] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.