Details of Disease | DrugMAP

General Information of Disease (ID: DISN3IWT)

Disease Name	NEK9-related lethal skeletal dysplasia
Synonyms	LCCS10; lethal congenital contracture syndrome type 10; lethal congenital contracture syndrome 10; lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome
Definition	NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated.
Disease Hierarchy	DIS489GT: Lethal congenital contracture syndrome DISRBNBF: Short rib dysplasia DISH7BRI: Thoracic malformation DISN3IWT: NEK9-related lethal skeletal dysplasia
Disease Identifiers	MONDO ID MONDO_0014870 UMLS CUI C5568141 OMIM ID 617022 MedGen ID 1799564 Orphanet ID 464366 SNOMED CT ID 1179299005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
NEK9	TTM57AW	Strong	Autosomal recessive	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NEK9	OT4VQCL5	Strong	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	Arthrogryposis, perthes disease, and upward gaze palsy: a novel autosomal recessive syndromic form of arthrogryposis. Am J Med Genet A. 2011 Feb;155A(2):297-300. doi: 10.1002/ajmg.a.33794. Epub 2010 Dec 22.