Details of Disease

General Information of Disease (ID: DISWEGI1)

Disease Name Hyperparathyroidism 2 with jaw tumors
Synonyms
familial primary hyperparathyroidism with multiple ossifying jaw fibromas; HRPT2; parathyroid adenomatosis, familial cystic; hyperparathyroidism-jaw tumor syndrome, hereditary; hereditary hyperparathyroidism-jaw tumor syndrome; hereditary hyperparathyroidism-jaw tumour syndrome; hyperparathyroidism 2; hyperparathyroidism-jaw tumour syndrome, hereditary; hyperparathyroidism, familial primary, with multiple ossifying jaw fibromas; hyperparathyroidism-2; hyperparathyroidism-jaw tumor syndrome; hyperparathyroidism type 2; HPT-JT; hyperparathyroidism 2 with jaw tumors; hyperparathyroidism-jaw tumour syndrome; parathyroid adenoma with cystic changes
Definition An autosomal dominant inherited syndrome characterized by the development of parathyroid adenoma or carcinoma, ossifying fibroma of the mandible and maxilla, renal neoplasms, and renal cysts.
Disease Hierarchy
DIS5A054: Abnormal mineralization disorder
DISPLTKN: Bone neoplasm
DIS6NA55: Familial primary hyperparathyroidism
DISGXLG5: Hereditary neoplastic syndrome
DIS8I9FS: Hereditary disorder of connective tissue
DISWEGI1: Hyperparathyroidism 2 with jaw tumors
Disease Identifiers
MONDO ID
MONDO_0007768
MESH ID
C563273
UMLS CUI
C1704981
OMIM ID
145001
MedGen ID
310065
Orphanet ID
99880
SNOMED CT ID
702378002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MEN1 OTN6U6V0 Limited Biomarker [1]
FUZ OTC427QQ moderate Genetic Variation [2]
PAF1 OTDDGUBQ moderate Altered Expression [3]
CDC73 OT6JASZ1 Definitive Autosomal dominant [4]
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References

1 Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma.Hum Mutat. 2017 Dec;38(12):1621-1648. doi: 10.1002/humu.23337. Epub 2017 Sep 25.
2 Crystal structure of the N-terminal domain of human CDC73 and its implications for the hyperparathyroidism-jaw tumor (HPT-JT) syndrome.Sci Rep. 2017 Nov 15;7(1):15638. doi: 10.1038/s41598-017-15715-9.
3 Defective nucleolar localization and dominant interfering properties of a parafibromin L95P missense mutant causing the hyperparathyroidism-jaw tumor syndrome.Endocr Relat Cancer. 2010 May 18;17(2):513-24. doi: 10.1677/ERC-09-0272. Print 2010 Jun.
4 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.