Details of Disease | DrugMAP

General Information of Disease (ID: DISMVEON)

Disease Name	Normophosphatemic familial tumoral calcinosis
Synonyms	NFTC; calcinosis, tumoral, with Normophosphatemia; familial normophosphatemic tumoral calcinosis; tumoral calcinosis, normophosphatemic, familial; tumoral calcinosis, familial, normophosphatemic; normophosphatemic familial tumoral calcinosis
Disease Hierarchy	DISYJZKG: Familial tumoral calcinosis DISO5FAY: Inborn error of metabolism DISMVEON: Normophosphatemic familial tumoral calcinosis
Disease Identifiers	MONDO ID MONDO_0012502 MESH ID C566473 UMLS CUI C1864861 OMIM ID 610455 MedGen ID 355311 Orphanet ID 306658 SNOMED CT ID 1162852008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SAMD9	OTDG48P0	Strong	Autosomal recessive	[1]
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References

1	A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis. Am J Hum Genet. 2006 Oct;79(4):759-64. doi: 10.1086/508069. Epub 2006 Aug 24.