Details of Disease | DrugMAP

General Information of Disease (ID: DISKULM0)

Disease Name	Tumoral calcinosis, hyperphosphatemic, familial, 2
Synonyms	HFTC2; tumoral calcinosis, hyperphosphatemic, familial, 2
Disease Hierarchy	DISYJZKG: Familial tumoral calcinosis DISO5FAY: Inborn error of metabolism DISKULM0: Tumoral calcinosis, hyperphosphatemic, familial, 2
Disease Identifiers	MONDO ID MONDO_0060714 UMLS CUI C4693863 OMIM ID 617993 MedGen ID 1640532

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
FGF23	TT2IZ4K	Strong	Autosomal recessive	[1]
FGF23	TT2IZ4K	Strong	Genetic Variation	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FGF23	OTZT523D	Strong	Autosomal recessive	[1]
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References

1	An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia. Hum Mol Genet. 2005 Feb 1;14(3):385-90. doi: 10.1093/hmg/ddi034. Epub 2004 Dec 8.
2	A new missense mutation in FGF23 gene in a male with hyperostosis-hyperphosphatemia syndrome (HHS).Gene. 2014 Jun 1;542(2):269-71. doi: 10.1016/j.gene.2014.03.052. Epub 2014 Mar 27.