Details of Disease | DrugMAP

General Information of Disease (ID: DIS5XT5M)

Disease Name	Hypercalcemia, infantile, 1
Synonyms	HCINF1; autosomal recessive infantile hypercalcemia 1; hypercalcemia, infantile, 1
Disease Hierarchy	DIS1VVB2: Hypercalcemia, infantile DIS5XT5M: Hypercalcemia, infantile, 1
Disease Identifiers	MONDO ID MONDO_0020739 MESH ID C562999 UMLS CUI C4310232 OMIM ID 143880 MedGen ID 934200

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
CYP24A1	TT82UI1	Strong	Biomarker	[1]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC34A1	DT42EWA	Strong	GermlineCausalMutation	[2]
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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	Strong	Autosomal recessive	[3]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CYP24A1	OTG2T749	Strong	Autosomal recessive	[3]
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References

1	Mitochondrial medicine in the omics era.Lancet. 2018 Jun 23;391(10139):2560-2574. doi: 10.1016/S0140-6736(18)30727-X. Epub 2018 Jun 18.
2	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.
3	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.