Details of Disease

General Information of Disease (ID: DISC2Y84)

Disease Name Familial isolated hyperparathyroidism
Synonyms FIHP; familial isolated hyperparathyroidism; FIHPT
Definition A rare, autosomal dominant hereditary syndrome characterized by hypercalcemia, abnormally high levels of parathyroid hormone, and isolated hyperfunctioning parathyroid tumors.
Disease Hierarchy
DIS6NA55: Familial primary hyperparathyroidism
DISGXLG5: Hereditary neoplastic syndrome
DISC2Y84: Familial isolated hyperparathyroidism
Disease Identifiers
MONDO ID
MONDO_0015027
MESH ID
C564166
UMLS CUI
C4551961
MedGen ID
1643161
Orphanet ID
99879
SNOMED CT ID
786037006

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
CASR TTBUYHA Strong Biomarker [1]
------------------------------------------------------------------------------------
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CDC73 OT6JASZ1 Supportive Autosomal dominant [2]
GCM2 OTSKNPTI Supportive Autosomal dominant [3]
MEN1 OTN6U6V0 Supportive Autosomal dominant [4]
------------------------------------------------------------------------------------

References

1 Molecular genetics in primary hyperparathyroidism: the role of genetic tests in differential diagnosis, disease prevention strategy, and therapeutic planning. A 2017 update.Clin Cases Miner Bone Metab. 2017 Jan-Apr;14(1):60-70. doi: 10.11138/ccmbm/2017.14.1.060. Epub 2017 May 30.
2 CDC73-Related Disorders. 2008 Dec 31 [updated 2023 Sep 21]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
3 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.
4 A family with isolated hyperparathyroidism segregating a missense MEN1 mutation and showing loss of the wild-type alleles in the parathyroid tumors. Am J Hum Genet. 1998 Nov;63(5):1544-9. doi: 10.1086/302097.