Details of Disease | DrugMAP

General Information of Disease (ID: DISWWUR1)

Disease Name	Obsolete autosomal recessive infantile hypercalcemia
Disease Hierarchy	DIS01GPL: Grass pollen hypersensitivity DISWWUR1: Obsolete autosomal recessive infantile hypercalcemia

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC34A1	DT42EWA	Supportive	Autosomal recessive	[1]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CYP24A1	DEFI12S	Supportive	Autosomal recessive	[2]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CYP24A1	OTG2T749	Supportive	Autosomal recessive	[2]
SLC34A1	OTNOMLU2	Supportive	Autosomal recessive	[1]
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References

1	Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia. J Am Soc Nephrol. 2016 Feb;27(2):604-14. doi: 10.1681/ASN.2014101025. Epub 2015 Jun 5.
2	Mutations in CYP24A1 and idiopathic infantile hypercalcemia. N Engl J Med. 2011 Aug 4;365(5):410-21. doi: 10.1056/NEJMoa1103864. Epub 2011 Jun 15.