Details of Disease | DrugMAP

General Information of Disease (ID: DISOWEH7)

Disease Name	Hypercalcemia, infantile, 2
Synonyms	hypercalcemia, infantile, type 2; hypercalcemia, infantile, 2; HCINF2; autosomal recessive infantile hypercalcemia caused by mutation in SLC34A1; SLC34A1 autosomal recessive infantile hypercalcemia; hypercalcemia, infantile 2
Definition	Any hypercalcemia, infantile in which the cause of the disease is a mutation in the SLC34A1 gene.
Disease Hierarchy	DIS1VVB2: Hypercalcemia, infantile DISOWEH7: Hypercalcemia, infantile, 2
Disease Identifiers	MONDO ID MONDO_0014851 MESH ID C562999 UMLS CUI C4310473 OMIM ID 616963 MedGen ID 934441

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTP Molecule(s)

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

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC34A1	OTNOMLU2	Definitive	Autosomal recessive	[2]
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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	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.