Details of Disease

General Information of Disease (ID: DISKGBD8)

Disease Name Klippel-Feil syndrome 1, autosomal dominant
Synonyms
Kfs; Klippel-FEIL syndrome 1, autosomal dominant; cervical vertebral fusion, autosomal dominant; KFS1; Klippel-Feil Syndrome; GDF6 isolated Klippel-Feil syndrome; Klippel-Feil syndrome 1, autosomal dominant; isolated Klippel-Feil syndrome caused by mutation in GDF6
Definition Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the GDF6 gene.
Disease Hierarchy
DISRVCYV: Klippel-Feil syndrome
DISKGBD8: Klippel-Feil syndrome 1, autosomal dominant
Disease Identifiers
MONDO ID
MONDO_0007306
MESH ID
C536887
UMLS CUI
C1861689
OMIM ID
118100
MedGen ID
396196

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GDF3 OTD3KGJK Strong Biomarker [1]
MEOX1 OTJEMT2D Strong Autosomal recessive [2]
MYO18B OTGYY4NK Strong Biomarker [3]
PAX1 OT0Y3MIM Strong Biomarker [4]
GDF6 OTERXWJU Definitive Autosomal dominant [5]
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References

1 Stratified whole genome linkage analysis of Chiari type I malformation implicates known Klippel-Feil syndrome genes as putative disease candidates.PLoS One. 2013 Apr 19;8(4):e61521. doi: 10.1371/journal.pone.0061521. Print 2013.
2 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.
3 Expanding the clinical history associated with syndromic Klippel-Feil: A unique case of comorbidity with medulloblastoma.Eur J Med Genet. 2019 Aug;62(8):103701. doi: 10.1016/j.ejmg.2019.103701. Epub 2019 Jun 10.
4 Mutations in PAX1 may be associated with Klippel-Feil syndrome. Eur J Hum Genet. 2003 Jun;11(6):468-74. doi: 10.1038/sj.ejhg.5200987.
5 Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes. Hum Mol Genet. 2009 Mar 15;18(6):1110-21. doi: 10.1093/hmg/ddp008. Epub 2009 Jan 6.