Details of Disease

General Information of Disease (ID: DIS5XBN5)

Disease Name Hyperparathyroidism 4
Synonyms HRPT4; familial isolated hyperparathyroidism caused by mutation in GCM2; hyperparathyroidism type 4; GCM2 familial isolated hyperparathyroidism; hyperparathyroidism 4
Definition Any familial isolated hyperparathyroidism in which the cause of the disease is a mutation in the GCM2 gene.
Disease Hierarchy
DISC2Y84: Familial isolated hyperparathyroidism
DIS5A054: Abnormal mineralization disorder
DISPLTKN: Bone neoplasm
DIS8I9FS: Hereditary disorder of connective tissue
DIS5XBN5: Hyperparathyroidism 4
Disease Identifiers
MONDO ID
MONDO_0024570
UMLS CUI
C4479229
OMIM ID
617343
MedGen ID
1386327

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
GCM2 OTSKNPTI Limited Unknown [1]
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References

1 GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism. Am J Hum Genet. 2016 Nov 3;99(5):1034-1044. doi: 10.1016/j.ajhg.2016.08.018. Epub 2016 Oct 13.