Details of Disease | DrugMAP

General Information of Disease (ID: DISQPKO8)

Disease Name	Obsolete microcephalic primordial dwarfism-insulin resistance syndrome
Disease Hierarchy	DIS01GPL: Grass pollen hypersensitivity DISQPKO8: Obsolete microcephalic primordial dwarfism-insulin resistance syndrome

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
XRCC4	OT4SXOIZ	Supportive	Autosomal recessive	[1]
NSMCE2	OTJXLDC9	Supportive	Autosomal recessive	[2]
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References

1	Mutations in the NHEJ component XRCC4 cause primordial dwarfism. Am J Hum Genet. 2015 Mar 5;96(3):412-24. doi: 10.1016/j.ajhg.2015.01.013. Epub 2015 Feb 26.
2	Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance. J Clin Invest. 2014 Sep;124(9):4028-38. doi: 10.1172/JCI73264. Epub 2014 Aug 8.