Details of Disease | DrugMAP

General Information of Disease (ID: DISBI5VD)

Disease Name	Hyperparathyroidism 1
Synonyms	parathyroid adenoma, familial; hyperparathyroidism, familial isolated primary; HRPT1; hyperparathyroidism 1; hyperparathyroidism type 1; hyperparathyroidism, familial primary
Disease Hierarchy	DISC2Y84: Familial isolated hyperparathyroidism DIS5A054: Abnormal mineralization disorder DISPLTKN: Bone neoplasm DIS8I9FS: Hereditary disorder of connective tissue DISBI5VD: Hyperparathyroidism 1
Disease Identifiers	MONDO ID MONDO_0007767 UMLS CUI C1840402 OMIM ID 145000 MedGen ID 333554

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
CDC73	OT6JASZ1	Strong	Autosomal dominant	[1]
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References

1	HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. Nat Genet. 2002 Dec;32(4):676-80. doi: 10.1038/ng1048. Epub 2002 Nov 18.