Caffey disease

Summary
Synonym
  • cortical congenital hyperostosis
  • infantile cortical hyperostosis
Definition
A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has symptom soft-tissue swelling, has symptom bone lesions, and has symptom irritability.
Super Class
bone inflammation disease
External Links
Disease Ontology
DOID:4257
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
53947 A4GALT alpha 1,4-galactosyltransferase (P1PK blood group)
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q9NPC4 Lactosylceramide 4-alpha-galactosyltransferase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024