Details of Disease | DrugMAP

General Information of Disease (ID: DISP6X5E)

Disease Name	Obsolete tumoral calcinosis, hyperphosphatemic, familial, 1
Definition	Split this term into the more general Orphanet class and more specific OMIM term.
Disease Hierarchy	DIS01GPL: Grass pollen hypersensitivity DISP6X5E: Obsolete tumoral calcinosis, hyperphosphatemic, familial, 1

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
FGF23	TT2IZ4K	Supportive	Autosomal recessive	[1]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KL	OTD4VWU6	Supportive	Autosomal recessive	[2]
GALNT3	OT7M67WT	Strong	Autosomal recessive	[3]
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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 homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis. J Clin Invest. 2007 Sep;117(9):2684-91. doi: 10.1172/JCI31330.
3	Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis. Nat Genet. 2004 Jun;36(6):579-81. doi: 10.1038/ng1358. Epub 2004 May 9.