Details of Disease

General Information of Disease (ID: DISTWF6O)

• Disease Name: Cole-Carpenter syndrome
• Synonyms: Cole Carpenter syndrome; bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome
• Definition: An extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).
• Disease Hierarchy:
  DIS6SVEE: Syndromic disease
  DISD0WVL: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
  DIS5Z8U6: Skeletal dysplasia
  DISTWF6O: Cole-Carpenter syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0016085
  MESH ID: C535963
  UMLS CUI: C1862178
  MedGen ID: 350614
  Orphanet ID: 2050
  SNOMED CT ID: 389199001

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
P4HB	OTTYNYPF	Supportive	Autosomal dominant	[1]
SEC24D	OTXR3KC9	Supportive	Autosomal dominant	[2]
CRTAP	OT53H5U6	Strong	Genetic Variation	[3]

References

• [1] Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB. Am J Hum Genet. 2015 Mar 5;96(3):425-31. doi: 10.1016/j.ajhg.2014.12.027. Epub 2015 Feb 12.
• [2] Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta. Am J Hum Genet. 2015 Mar 5;96(3):432-9. doi: 10.1016/j.ajhg.2015.01.002. Epub 2015 Feb 12.
• [3] CRTAP mutation in a patient with Cole-Carpenter syndrome.Am J Med Genet A. 2015 Mar;167A(3):587-91. doi: 10.1002/ajmg.a.36916. Epub 2015 Jan 21.