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Hyperparathyroidism 4(HRPT4)

MedGen UID:
1386327
Concept ID:
C4479229
Disease or Syndrome
Synonym: HRPT4
 
Gene (location): GCM2 (6p24.2)
 
Monarch Initiative: MONDO:0024570
OMIM®: 617343

Definition

Any familial isolated hyperparathyroidism in which the cause of the disease is a mutation in the GCM2 gene. [from MONDO]

Clinical features

From HPO
Parathyroid carcinoma
MedGen UID:
146361
Concept ID:
C0687150
Neoplastic Process
The spectrum of CDC73-related disorders includes the following phenotypes: Hyperparathyroidism-jaw tumor (HPT-JT) syndrome. Primary hyperparathyroidism, the main finding of HPT-JT syndrome, occurs in up to 95% of affected individuals; onset is typically in late adolescence or early adulthood. HPT-JT-associated primary hyperparathyroidism is usually caused by a single parathyroid adenoma. In approximately 10%-15% of individuals, primary hyperparathyroidism is caused by parathyroid carcinoma. Ossifying fibromas of the mandible or maxilla, also known as cementifying fibromas and cemento-ossifying fibromas, occur in 30%-40% of individuals with HPT-JT syndrome. Although benign, these tumors can be locally aggressive and may continue to enlarge if not treated. Approximately 20% of individuals with HPT-JT syndrome have kidney lesions, most commonly cysts; renal hamartomas and (more rarely) Wilms tumor have also been reported. Benign and malignant uterine tumors appear to be common in women with HPT-JT syndrome. Parathyroid carcinoma. Most parathyroid carcinomas are functional, resulting in hyperparathyroidism and a high serum calcium level; however, nonfunctioning parathyroid carcinomas are also rarely described in individuals with a CDC73-related disorder. A germline CDC73 pathogenic variant has been identified in 20%-29% of individuals with apparently sporadic parathyroid carcinoma. Familial isolated hyperparathyroidism (FIHP). FIHP is characterized by primary hyperparathyroidism without other associated syndromic features. Individuals with CDC73-related FIHP tend to have a more severe clinical presentation and younger age of onset than individuals with FIHP in whom a CDC73 pathogenic variant has not been identified.
Nephrolithiasis
MedGen UID:
98227
Concept ID:
C0392525
Disease or Syndrome
The presence of calculi (stones) in the kidneys.
Osteopenia
MedGen UID:
18222
Concept ID:
C0029453
Disease or Syndrome
Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.
Hypercalcemia
MedGen UID:
5686
Concept ID:
C0020437
Disease or Syndrome
An abnormally increased calcium concentration in the blood.
Primary hyperparathyroidism
MedGen UID:
66354
Concept ID:
C0221002
Disease or Syndrome
A type of hyperparathyroidism caused by a primary abnormality of the parathyroid glands (e.g., adenoma, carcinoma, hyperplasia). Primary hyperparathyroidism is associated with hyercalcemia.

Professional guidelines

PubMed

Hamed SA
Expert Rev Clin Pharmacol 2019 Jan;12(1):61-90. Epub 2019 Jan 11 doi: 10.1080/17512433.2019.1555468. PMID: 30501441

Recent clinical studies

Etiology

Bilezikian JP, Khan AA, Silverberg SJ, Fuleihan GE, Marcocci C, Minisola S, Perrier N, Sitges-Serra A, Thakker RV, Guyatt G, Mannstadt M, Potts JT, Clarke BL, Brandi ML; International Workshop on Primary Hyperparathyroidism
J Bone Miner Res 2022 Nov;37(11):2293-2314. Epub 2022 Oct 17 doi: 10.1002/jbmr.4677. PMID: 36245251
Komaba H, Hamano T, Fujii N, Moriwaki K, Wada A, Masakane I, Nitta K, Fukagawa M
J Clin Endocrinol Metab 2022 Jun 16;107(7):2016-2025. doi: 10.1210/clinem/dgac142. PMID: 35277957
Newey PJ
Endocrinol Metab Clin North Am 2021 Dec;50(4):663-681. doi: 10.1016/j.ecl.2021.08.003. PMID: 34774240
Pazianas M, Miller PD
Am J Kidney Dis 2021 Oct;78(4):582-589. Epub 2021 Mar 25 doi: 10.1053/j.ajkd.2020.12.024. PMID: 33774081
Jain N, Reilly RF
Curr Opin Nephrol Hypertens 2017 Jul;26(4):250-255. doi: 10.1097/MNH.0000000000000327. PMID: 28375869

Diagnosis

Bilezikian JP, Khan AA, Silverberg SJ, Fuleihan GE, Marcocci C, Minisola S, Perrier N, Sitges-Serra A, Thakker RV, Guyatt G, Mannstadt M, Potts JT, Clarke BL, Brandi ML; International Workshop on Primary Hyperparathyroidism
J Bone Miner Res 2022 Nov;37(11):2293-2314. Epub 2022 Oct 17 doi: 10.1002/jbmr.4677. PMID: 36245251
Newey PJ
Endocrinol Metab Clin North Am 2021 Dec;50(4):663-681. doi: 10.1016/j.ecl.2021.08.003. PMID: 34774240
Pazianas M, Miller PD
Am J Kidney Dis 2021 Oct;78(4):582-589. Epub 2021 Mar 25 doi: 10.1053/j.ajkd.2020.12.024. PMID: 33774081
Masi L
Front Horm Res 2019;51:1-12. Epub 2018 Nov 19 doi: 10.1159/000491034. PMID: 30641515
Jain N, Reilly RF
Curr Opin Nephrol Hypertens 2017 Jul;26(4):250-255. doi: 10.1097/MNH.0000000000000327. PMID: 28375869

Therapy

Bilezikian JP, Khan AA, Silverberg SJ, Fuleihan GE, Marcocci C, Minisola S, Perrier N, Sitges-Serra A, Thakker RV, Guyatt G, Mannstadt M, Potts JT, Clarke BL, Brandi ML; International Workshop on Primary Hyperparathyroidism
J Bone Miner Res 2022 Nov;37(11):2293-2314. Epub 2022 Oct 17 doi: 10.1002/jbmr.4677. PMID: 36245251
Komaba H, Hamano T, Fujii N, Moriwaki K, Wada A, Masakane I, Nitta K, Fukagawa M
J Clin Endocrinol Metab 2022 Jun 16;107(7):2016-2025. doi: 10.1210/clinem/dgac142. PMID: 35277957
Pazianas M, Miller PD
Am J Kidney Dis 2021 Oct;78(4):582-589. Epub 2021 Mar 25 doi: 10.1053/j.ajkd.2020.12.024. PMID: 33774081
Mizobuchi M, Ogata H, Koiwa F
Ther Apher Dial 2019 Aug;23(4):309-318. Epub 2018 Dec 18 doi: 10.1111/1744-9987.12772. PMID: 30411503
Jain N, Reilly RF
Curr Opin Nephrol Hypertens 2017 Jul;26(4):250-255. doi: 10.1097/MNH.0000000000000327. PMID: 28375869

Prognosis

Reitz RJ 3rd, Dreimiller A, Khil A, Horwitz E, McHenry CR
Surgery 2021 Mar;169(3):513-518. Epub 2020 Sep 9 doi: 10.1016/j.surg.2020.08.007. PMID: 32919783
Cormier C
Joint Bone Spine 2019 Jul;86(4):459-466. Epub 2018 Oct 6 doi: 10.1016/j.jbspin.2018.10.001. PMID: 30300686
Duan K, Gomez Hernandez K, Mete O
J Clin Pathol 2015 Oct;68(10):771-87. Epub 2015 Jul 10 doi: 10.1136/jclinpath-2015-203186. PMID: 26163537
Macfarlane DP, Yu N, Leese GP
Lancet Diabetes Endocrinol 2013 Dec;1(4):329-40. Epub 2013 Oct 24 doi: 10.1016/S2213-8587(13)70083-4. PMID: 24622418
Caron NR, Sturgeon C, Clark OH
Curr Treat Options Oncol 2004 Aug;5(4):335-45. doi: 10.1007/s11864-004-0024-4. PMID: 15233910

Clinical prediction guides

Bilezikian JP, Khan AA, Silverberg SJ, Fuleihan GE, Marcocci C, Minisola S, Perrier N, Sitges-Serra A, Thakker RV, Guyatt G, Mannstadt M, Potts JT, Clarke BL, Brandi ML; International Workshop on Primary Hyperparathyroidism
J Bone Miner Res 2022 Nov;37(11):2293-2314. Epub 2022 Oct 17 doi: 10.1002/jbmr.4677. PMID: 36245251
Huglo PD
Presse Med 2022 Jun;51(2):104120. Epub 2022 Mar 20 doi: 10.1016/j.lpm.2022.104120. PMID: 35321847
Komaba H, Hamano T, Fujii N, Moriwaki K, Wada A, Masakane I, Nitta K, Fukagawa M
J Clin Endocrinol Metab 2022 Jun 16;107(7):2016-2025. doi: 10.1210/clinem/dgac142. PMID: 35277957
Walker MD, Bilezikian JP
Curr Opin Rheumatol 2018 Jul;30(4):427-439. doi: 10.1097/BOR.0000000000000511. PMID: 29664757
Duan K, Gomez Hernandez K, Mete O
J Clin Pathol 2015 Oct;68(10):771-87. Epub 2015 Jul 10 doi: 10.1136/jclinpath-2015-203186. PMID: 26163537

Recent systematic reviews

Roser P, Leca BM, Coelho C, Schulte KM, Gilbert J, Drakou EE, Kosmas C, Ling Chuah L, Wassati H, Miras AD, Crane J, Aylwin SJB, Grossman AB, Dimitriadis GK
Endocr Relat Cancer 2023 Apr 1;30(4) Epub 2023 Mar 22 doi: 10.1530/ERC-22-0287. PMID: 36621911
Bilezikian JP, Khan AA, Silverberg SJ, Fuleihan GE, Marcocci C, Minisola S, Perrier N, Sitges-Serra A, Thakker RV, Guyatt G, Mannstadt M, Potts JT, Clarke BL, Brandi ML; International Workshop on Primary Hyperparathyroidism
J Bone Miner Res 2022 Nov;37(11):2293-2314. Epub 2022 Oct 17 doi: 10.1002/jbmr.4677. PMID: 36245251
Ruospo M, Palmer SC, Natale P, Craig JC, Vecchio M, Elder GJ, Strippoli GF
Cochrane Database Syst Rev 2018 Aug 22;8(8):CD006023. doi: 10.1002/14651858.CD006023.pub3. PMID: 30132304Free PMC Article
Palla B, Burian E, Fliefel R, Otto S
Clin Oral Investig 2018 Jan;22(1):1-27. Epub 2017 Jun 14 doi: 10.1007/s00784-017-2124-0. PMID: 28616750
McKnight RF, Adida M, Budge K, Stockton S, Goodwin GM, Geddes JR
Lancet 2012 Feb 25;379(9817):721-8. Epub 2012 Jan 20 doi: 10.1016/S0140-6736(11)61516-X. PMID: 22265699

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