Details of Disease | DrugMAP

General Information of Disease (ID: DISCEP93)

Disease Name	Treacher Collins syndrome 1
Synonyms	TREACHER COLLINS syndrome 1; Treacher Collins syndrome; TCS1; mandibulofacial dysostosis; Treacher Collins-Franceschetti syndrome; Treacher-Collins syndrome 1; Treacher-Collins syndrome caused by mutation in TCOF1; TCOF1 Treacher-Collins syndrome; Treacher Collins syndrome type 1
Definition	Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the TCOF1 gene.
Disease Hierarchy	DIS2GXZ1: Treacher-Collins syndrome DISCEP93: Treacher Collins syndrome 1

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
TCOF1	OT4BOYTM	Definitive	Autosomal dominant	[1]
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References

1	Treacher Collins syndrome with craniosynostosis, choanal atresia, and esophageal regurgitation caused by a novel nonsense mutation in TCOF1. Am J Med Genet A. 2004 Jul 15;128A(2):173-5. doi: 10.1002/ajmg.a.30038.