Details of Disease

General Information of Disease (ID: DISI44BI)

• Disease Name: Obsolete isolated Klippel-Feil syndrome
• Synonyms: Klippel-Feil malformation; nonsyndromic Klippel-Feil syndrome; congenital fused cervical segments; congenital cervical vertebral fusion; Klippel-Feil sequence
• Definition: OBSOLETE. Klippel-Feil Syndrome is characterized by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae.
• Disease Hierarchy:
  DIS01GPL: Grass pollen hypersensitivity
  DISI44BI: Obsolete isolated Klippel-Feil syndrome

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
GDF3	OTD3KGJK	Supportive	Autosomal dominant	[1]
GDF6	OTERXWJU	Supportive	Autosomal dominant	[2]
MEOX1	OTJEMT2D	Supportive	Autosomal dominant	[3]

References

• [1] Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies. Hum Mol Genet. 2010 Jan 15;19(2):287-98. doi: 10.1093/hmg/ddp496. Epub 2009 Oct 28.
• [2] Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. Hum Mutat. 2008 Aug;29(8):1017-27. doi: 10.1002/humu.20741.
• [3] Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly. Am J Hum Genet. 2013 Jan 10;92(1):157-61. doi: 10.1016/j.ajhg.2012.11.016. Epub 2013 Jan 3.