U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Hyperparathyroidism 1(HRPT1)

MedGen UID:
333554
Concept ID:
C1840402
Disease or Syndrome
Synonyms: CDC73-Related Familial Isolated Hyperparathyroidism; HRPT1; HYPERPARATHYROIDISM, FAMILIAL ISOLATED PRIMARY
 
Gene (location): CDC73 (1q31.2)
 
Monarch Initiative: MONDO:0007767
OMIM®: 145000

Disease characteristics

Excerpted from the GeneReview: CDC73-Related Disorders
The spectrum of CDC73-related disorders includes the following phenotypes: Hyperparathyroidism-jaw tumor (HPT-JT) syndrome. Primary hyperparathyroidism occurs in a vast majority of affected individuals, with onset typically in late adolescence or early adulthood. HPT-JT syndrome-associated primary hyperparathyroidism is usually caused by a single parathyroid adenoma. In at least 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. Up to 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 uterine tumors appear to be common in women with HPT-JT syndrome; uterine malignancies have also been reported. Parathyroid carcinoma. Most parathyroid carcinomas are functional, resulting in primary 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 parathyroid carcinoma without a known family history of CDC73-related conditions. Familial isolated hyperparathyroidism (FIHP). 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. [from GeneReviews]
Authors:
Catherine M Skefos  |  Steven G Waguespack  |  Nancy D Perrier, et. al.   view full author information

Additional descriptions

From OMIM
Familial isolated primary hyperparathyroidism is an autosomal dominant hypercalcemic disorder caused by inappropriate oversecretion of parathyroid hormone (PTH) from parathyroid adenomas, hyperplasia, and carcinomas (summary by Shibata et al., 2015). Genetic Heterogeneity of Familial Hyperparathyroidism Hyperparathyroidism-2 with jaw tumors (HRPT2; 145001), also known as the hyperparathyroidism-jaw tumor syndrome (HPT-JT), is also caused by mutation in the CDC73 gene. A locus for HRPT (HRPT3; 610071) has been mapped to chromosome 2p14-p13.3. HRPT4 (617343) is caused by mutation in the GCM2 gene (603716) on chromosome 6p24. Neonatal severe hyperparathyroidism (NSHPT; 239200) is caused by mutation in the CASR gene (601199) on chromosome 3q. Familial isolated primary hyperparathyroidism occasionally results from incomplete expression of multiple endocrine neoplasia (see MEN1, 131100). Familial hypocalciuric hypercalcemia (see 145980) can be confused with familial primary hyperparathyroidism.  http://www.omim.org/entry/145000
From MedlinePlus Genetics
Familial isolated hyperparathyroidism is an inherited condition characterized by overactivity of the parathyroid glands (hyperparathyroidism). The four parathyroid glands are located in the neck, and they release a hormone called parathyroid hormone that regulates the amount of calcium in the blood. In familial isolated hyperparathyroidism, one or more overactive parathyroid glands release excess parathyroid hormone, which causes the levels of calcium in the blood to rise (hypercalcemia). Parathyroid hormone stimulates the removal of calcium from bone and the absorption of calcium from the diet, and the mineral is then released into the bloodstream.

In people with familial isolated hyperparathyroidism, the production of excess parathyroid hormone is caused by tumors that involve the parathyroid glands. Typically only one of the four parathyroid glands is affected, but in some people, more than one gland develops a tumor. The tumors are usually noncancerous (benign), in which case they are called adenomas. Rarely, people with familial isolated hyperparathyroidism develop a cancerous tumor called parathyroid carcinoma. Because the production of excess parathyroid hormone is caused by abnormalities of the parathyroid glands, familial isolated hyperparathyroidism is considered a form of primary hyperparathyroidism.

Disruption of the normal calcium balance resulting from overactive parathyroid glands causes many of the common signs and symptoms of familial isolated hyperparathyroidism, such as kidney stones, nausea, vomiting, high blood pressure (hypertension), weakness, and fatigue. Because calcium is removed from bones to be released into the bloodstream, hyperparathyroidism often causes thinning of the bones (osteoporosis). The age at which familial isolated hyperparathyroidism is diagnosed varies from childhood to adulthood. Often, the first indication of the condition is elevated calcium levels identified through a routine blood test, even though the affected individual may not yet have signs or symptoms of hyperparathyroidism or hypercalcemia.  https://medlineplus.gov/genetics/condition/familial-isolated-hyperparathyroidism

Clinical features

From HPO
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

Prescott JD, Udelsman R
World J Surg 2009 Nov;33(11):2324-34. doi: 10.1007/s00268-009-9962-0. PMID: 19290572
Montenegro FL, Tavares MR, Durazzo MD, Cernea CR, Cordeiro AC, Ferraz AR
Sao Paulo Med J 2006 Jan 5;124(1):42-4. Epub 2006 Apr 3 doi: 10.1590/s1516-31802006000100009. PMID: 16612462
Cetani F, Pardi E, Ambrogini E, Lemmi M, Borsari S, Cianferotti L, Vignali E, Viacava P, Berti P, Mariotti S, Pinchera A, Marcocci C
Clin Endocrinol (Oxf) 2006 Feb;64(2):146-52. doi: 10.1111/j.1365-2265.2006.02438.x. PMID: 16430712

Recent clinical studies

Etiology

Barzin M, Ebadinejad A, Khalaj A, Mahdavi M, Valizadeh M, Hosseinpanah F
Obes Surg 2023 Jan;33(1):156-163. Epub 2022 Nov 1 doi: 10.1007/s11695-022-06337-w. PMID: 36319824
Crepeau P, Chen X, Udyavar R, Morris-Wiseman LF, Segev DL, McAdams-DeMarco M, Mathur A
Surgery 2023 Jan;173(1):138-145. Epub 2022 Oct 14 doi: 10.1016/j.surg.2022.07.031. PMID: 36244806Free PMC Article
Okada M, Tominaga Y, Sato T, Tomosugi T, Futamura K, Hiramitsu T, Ichimori T, Goto N, Narumi S, Kobayashi T, Uchida K, Watarai Y
BMC Nephrol 2022 Jun 17;23(1):212. doi: 10.1186/s12882-022-02840-5. PMID: 35710357Free PMC Article
Sutton W, Chen X, Patel P, Karzai S, Prescott JD, Segev DL, McAdams-DeMarco M, Mathur A
Surgery 2022 Jan;171(1):69-76. Epub 2021 Jul 12 doi: 10.1016/j.surg.2021.03.067. PMID: 34266650Free PMC Article
Tang JA, Salapatas AM, Bonzelaar LB, Friedman M
Laryngoscope 2018 Feb;128(2):528-533. Epub 2017 May 11 doi: 10.1002/lary.26604. PMID: 28493416

Diagnosis

Lalonde MN, Correia RD, Syktiotis GP, Schaefer N, Matter M, Prior JO
Semin Nucl Med 2023 Jul;53(4):490-502. Epub 2023 Mar 14 doi: 10.1053/j.semnuclmed.2023.02.004. PMID: 36922339
Sutton W, Chen X, Patel P, Karzai S, Prescott JD, Segev DL, McAdams-DeMarco M, Mathur A
Surgery 2022 Jan;171(1):69-76. Epub 2021 Jul 12 doi: 10.1016/j.surg.2021.03.067. PMID: 34266650Free PMC Article
Marini F, Giusti F, Iantomasi T, Brandi ML
Int J Mol Sci 2021 Oct 18;22(20) doi: 10.3390/ijms222011206. PMID: 34681865Free PMC Article
Alobuia W, Annes J, Kebebew E
Surgery 2020 Aug;168(2):328-334. Epub 2020 May 4 doi: 10.1016/j.surg.2020.03.009. PMID: 32376047Free PMC Article
Cordeiro AC, Montenegro FL, Kulcsar MA, Dellanegra LA, Tavares MR, Michaluart P Jr, Ferraz AR
Am J Surg 1998 Jan;175(1):52-5. doi: 10.1016/s0002-9610(97)00228-6. PMID: 9445240

Therapy

Barzin M, Ebadinejad A, Khalaj A, Mahdavi M, Valizadeh M, Hosseinpanah F
Obes Surg 2023 Jan;33(1):156-163. Epub 2022 Nov 1 doi: 10.1007/s11695-022-06337-w. PMID: 36319824
Crepeau P, Chen X, Udyavar R, Morris-Wiseman LF, Segev DL, McAdams-DeMarco M, Mathur A
Surgery 2023 Jan;173(1):138-145. Epub 2022 Oct 14 doi: 10.1016/j.surg.2022.07.031. PMID: 36244806Free PMC Article
Okada M, Tominaga Y, Sato T, Tomosugi T, Futamura K, Hiramitsu T, Ichimori T, Goto N, Narumi S, Kobayashi T, Uchida K, Watarai Y
BMC Nephrol 2022 Jun 17;23(1):212. doi: 10.1186/s12882-022-02840-5. PMID: 35710357Free PMC Article
Sutton W, Chen X, Patel P, Karzai S, Prescott JD, Segev DL, McAdams-DeMarco M, Mathur A
Surgery 2022 Jan;171(1):69-76. Epub 2021 Jul 12 doi: 10.1016/j.surg.2021.03.067. PMID: 34266650Free PMC Article
Prescott JD, Udelsman R
World J Surg 2009 Nov;33(11):2324-34. doi: 10.1007/s00268-009-9962-0. PMID: 19290572

Prognosis

Barzin M, Ebadinejad A, Khalaj A, Mahdavi M, Valizadeh M, Hosseinpanah F
Obes Surg 2023 Jan;33(1):156-163. Epub 2022 Nov 1 doi: 10.1007/s11695-022-06337-w. PMID: 36319824
Stuart H, Azab B, Roque OP, Pasieka J, Lew JI
Can J Surg 2022 Jul-Aug;65(4):E468-E473. Epub 2022 Jul 28 doi: 10.1503/cjs.013220. PMID: 35902104Free PMC Article
Tang JA, Salapatas AM, Bonzelaar LB, Friedman M
Laryngoscope 2018 Feb;128(2):528-533. Epub 2017 May 11 doi: 10.1002/lary.26604. PMID: 28493416
Dobrinja C, Santandrea G, Giacca M, Stenner E, Ruscio M, de Manzini N
Int J Surg 2017 May;41 Suppl 1:S26-S33. doi: 10.1016/j.ijsu.2017.02.063. PMID: 28506410
Cordeiro AC, Montenegro FL, Kulcsar MA, Dellanegra LA, Tavares MR, Michaluart P Jr, Ferraz AR
Am J Surg 1998 Jan;175(1):52-5. doi: 10.1016/s0002-9610(97)00228-6. PMID: 9445240

Clinical prediction guides

Barzin M, Ebadinejad A, Khalaj A, Mahdavi M, Valizadeh M, Hosseinpanah F
Obes Surg 2023 Jan;33(1):156-163. Epub 2022 Nov 1 doi: 10.1007/s11695-022-06337-w. PMID: 36319824
Stuart H, Azab B, Roque OP, Pasieka J, Lew JI
Can J Surg 2022 Jul-Aug;65(4):E468-E473. Epub 2022 Jul 28 doi: 10.1503/cjs.013220. PMID: 35902104Free PMC Article
Tang JA, Salapatas AM, Bonzelaar LB, Friedman M
Laryngoscope 2018 Feb;128(2):528-533. Epub 2017 May 11 doi: 10.1002/lary.26604. PMID: 28493416
Montenegro FL, Tavares MR, Durazzo MD, Cernea CR, Cordeiro AC, Ferraz AR
Sao Paulo Med J 2006 Jan 5;124(1):42-4. Epub 2006 Apr 3 doi: 10.1590/s1516-31802006000100009. PMID: 16612462
Nakayama K, Fukumoto S, Takeda S, Takeuchi Y, Ishikawa T, Miura M, Hata K, Hane M, Tamura Y, Tanaka Y, Kitaoka M, Obara T, Ogata E, Matsumoto T
J Clin Endocrinol Metab 1996 Feb;81(2):607-11. doi: 10.1210/jcem.81.2.8636276. PMID: 8636276

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...