Details of Disease | DrugMAP

General Information of Disease (ID: DISGDW99)

Disease Name	Klippel-Feil syndrome 3, autosomal dominant
Synonyms	KFS3; Klippel-FEIL syndrome 3, autosomal dominant; GDF3 isolated Klippel-Feil syndrome; Klippel-Feil syndrome 3, autosomal dominant; isolated Klippel-Feil syndrome caused by mutation in GDF3
Definition	Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the GDF3 gene.
Disease Hierarchy	DISRVCYV: Klippel-Feil syndrome DISGDW99: Klippel-Feil syndrome 3, autosomal dominant
Disease Identifiers	MONDO ID MONDO_0013375 UMLS CUI C3150967 OMIM ID 613702 MedGen ID 462317

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
GDF3	OTD3KGJK	Limited	Autosomal dominant	[1]
------------------------------------------------------------------------------------

References

1	A recurrent, non-penetrant sequence variant, p.Arg266Cys in Growth/Differentiation Factor 3 (GDF3) in a female with unilateral anophthalmia and skeletal anomalies. Am J Ophthalmol Case Rep. 2017 Jun 21;7:102-106. doi: 10.1016/j.ajoc.2017.06.006. eCollection 2017 Sep.