Details of Disease | DrugMAP

General Information of Disease (ID: DISZ0FWV)

Disease Name	Klippel-Feil syndrome 2, autosomal recessive
Synonyms	KFS2; cervical vertebral fusion, autosomal recessive; Klippel-FEIL syndrome 2, autosomal recessive; Kfs, autosomal recessive; isolated Klippel-Feil syndrome caused by mutation in MEOX1; Klippel-Feil syndrome 2, autosomal recessive; MEOX1 isolated Klippel-Feil syndrome
Definition	Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the MEOX1 gene.
Disease Hierarchy	DISRVCYV: Klippel-Feil syndrome DISZ0FWV: Klippel-Feil syndrome 2, autosomal recessive
Disease Identifiers	MONDO ID MONDO_0008958 MESH ID C536888 UMLS CUI C1859209 OMIM ID 214300 MedGen ID 395201

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RIPPLY2	OTDEEDLH	moderate	Genetic Variation	[1]
MEOX1	OTJEMT2D	Strong	Autosomal recessive	[2]
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References

1	Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects. Hum Mol Genet. 2015 Mar 1;24(5):1234-42. doi: 10.1093/hmg/ddu534. Epub 2014 Oct 24.
2	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.