Details of Disease | DrugMAP

General Information of Disease (ID: DIS33I78)

Disease Name	Cole-Carpenter syndrome 1
Synonyms	bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive Facial features; COLE-CARPENTER syndrome 1; CLCRP1; P4HB Cole-Carpenter syndrome; Cole-Carpenter syndrome caused by mutation in P4HB; Cole-Carpenter syndrome 1; Cole-Carpenter syndrome type 1
Definition	Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the P4HB gene.
Disease Hierarchy	DISEOED3: Osteogenesis imperfecta and a reduction of bone mineral density. DISTWF6O: Cole-Carpenter syndrome DIS33I78: Cole-Carpenter syndrome 1
Disease Identifiers	MONDO ID MONDO_0007204 UMLS CUI C4317154 OMIM ID 112240 MedGen ID 1374755

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
P4HB	OTTYNYPF	Strong	Autosomal dominant	[1]
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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.