MCID: HYP108
MIFTS: 44

Hyperparathyroidism-Jaw Tumor Syndrome malady

Categories: Genetic diseases, Rare diseases, Nephrological diseases, Endocrine diseases, Oral diseases

Aliases & Classifications for Hyperparathyroidism-Jaw Tumor Syndrome

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Aliases & Descriptions for Hyperparathyroidism-Jaw Tumor Syndrome:

Name: Hyperparathyroidism-Jaw Tumor Syndrome 51 47 24 25 53 69 12 67
Hpt-Jt 47 24 25 53 69
Familial Primary Hyperparathyroidism with Multiple Ossifying Jaw Fibromas 47 25 69
Hyperparathyroidism 2 51 47 25
Hrpt2 47 69 49
Hereditary Hyperparathyroidism-Jaw Tumor Syndrome 47 25
 
Hyperparathyroidism Type 2 69 26
Parathyroid Adenomatosis, Familial Cystic 67
Familial Cystic Parathyroid Adenomatosis 25
Parathyroid Adenoma with Cystic Changes 51
Hyperparathyroidism Jaw Tumor Syndrome 24

Characteristics:

Orphanet epidemiological data:

53
hyperparathyroidism-jaw tumor syndrome:
Age of onset: Adolescent,Adult

HPO:

63
hyperparathyroidism-jaw tumor syndrome:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 145001
Orphanet53 ORPHA99880
ICD10 via Orphanet30 E21.0

Summaries for Hyperparathyroidism-Jaw Tumor Syndrome

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NIH Rare Diseases:47 Hyperparathyroidism-jaw tumor syndrome is an inherited condition characterized by overactivity of the parathyroid glands (hyperparathyroidism), which regulate the body's use of calcium. In people with this condition, hyperparathyroidism is caused by benign tumors (adenomas) that form in the parathyroid glands. About 15 percent of people with this condition develop a cancerous tumor called parathyroid carcinoma. About 25 to 50 percent of affected individuals can also develop a benign tumor called a fibroma in the jaw. Other benign or cancerous tumors can also develop, including tumors of the uterus in women; benign kidney cysts; and rarely, Wilms tumor. This condition is caused by mutations in the CDC73 gene and is inherited in an autosomal dominant fashion. Last updated: 11/29/2011

MalaCards based summary: Hyperparathyroidism-Jaw Tumor Syndrome, also known as hpt-jt, is related to hyperparathyroidism 3 and parathyroid carcinoma, and has symptoms including Array, Array and Array. An important gene associated with Hyperparathyroidism-Jaw Tumor Syndrome is CDC73 (Cell Division Cycle 73), and among its related pathways are Thyroid cancer and Signaling by GPCR. Affiliated tissues include kidney, bone and uterus, and related mouse phenotypes are muscle and cellular.

UniProtKB/Swiss-Prot:69 Hyperparathyroidism-jaw tumor syndrome: Autosomal dominant, multiple neoplasia syndrome primarily characterized by hyperparathyroidism due to parathyroid tumors. Thirty percent of individuals with HPT-JT may also develop ossifying fibromas, primarily of the mandible and maxilla, which are distinct from the brown tumors associated with severe hyperparathyroidism. Kidney lesions may also occur in HPT-JT as bilateral cysts, renal hamartomas or Wilms tumors.

Genetics Home Reference:25 Hyperparathyroidism-jaw tumor syndrome is a condition characterized by overactivity of the parathyroid glands (hyperparathyroidism). The four parathyroid glands are located in the neck and secrete a hormone that regulates the body's use of calcium. Hyperparathyroidism disrupts the normal balance of calcium in the blood, which can lead to kidney stones, thinning of the bones (osteoporosis), nausea, vomiting, high blood pressure (hypertension), weakness, and fatigue.

Description from OMIM:51 145001

Related Diseases for Hyperparathyroidism-Jaw Tumor Syndrome

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Diseases related to Hyperparathyroidism-Jaw Tumor Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 30)
idRelated DiseaseScoreTop Affiliating Genes
1hyperparathyroidism 331.6CDC73, MEN1
2parathyroid carcinoma28.7CASR, CCND1, CDC73, MEN1
3hyperparathyroidism10.7
4hyperparathyroidism, familial primary10.2CDC73, MEN1
5cardiovascular organ benign neoplasm10.1CDC73, MEN1
6mild pre-eclampsia10.1CASR, CDC73
7central hypoventilation syndrome, congenital10.0MEN1, RET
8nonsyndromic holoprosencephaly10.0MEN1, RET
9malignant mediastinum hemangiopericytoma9.9MEN1, RET
10fibroma9.9
11ossifying fibroma9.9
12osteitis fibrosa9.9
13pseudobulbar palsy9.8CASR, CDC73, MEN1
14hematopoietic stem cell transplantation9.8MEN1, RET
15optic papillitis9.8CCND1, MEN1
16small cell neuroendocrine carcinoma9.7CCND1, CDC73
17multiple endocrine neoplasia iib9.7CDC73, MEN1, RET
18y-linked disease9.7MEN1, RET
19medullary thyroid carcinoma, familial9.5MEN1, RET
20kidney benign neoplasm9.5CCND1, RET
21chorea, hereditary benign9.5CCND1, RET
22von hippel-lindau syndrome9.3CCND1, MEN1, RET
23childhood optic tract astrocytoma9.3CCND1, MEN1, RET
24angelucci's syndrome9.3CASR, CDC73, MEN1, RET
25allergic conjunctivitis9.3CASR, CDC73, MEN1, RET
26interval angle-closure glaucoma9.3CASR, CDC73, MEN1, RET
27immunodeficiency, common variable, 59.3CASR, CDC73, MEN1, RET
28male reproductive organ benign neoplasm9.0CCND1, CDC73, MEN1, RET
29richter's syndrome9.0CCND1, CDC73, MEN1, RET
30mixed cell type adenoma of parathyroid8.6CASR, CCND1, CDC73, MEN1, RET

Graphical network of the top 20 diseases related to Hyperparathyroidism-Jaw Tumor Syndrome:



Diseases related to hyperparathyroidism-jaw tumor syndrome

Symptoms for Hyperparathyroidism-Jaw Tumor Syndrome

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Symptoms by clinical synopsis from OMIM:

145001

Clinical features from OMIM:

145001

Human phenotypes related to Hyperparathyroidism-Jaw Tumor Syndrome:

 53 63 (show all 45)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 parathyroid adenoma63 53 Obligate (100%) HP:0002897
2 hypercalcemia63 53 Obligate (100%) HP:0003072
3 primary hyperparathyroidism53 Obligate (100%)
4 hypophosphatemia53 Very frequent (99-80%)
5 hypercalciuria53 Very frequent (99-80%)
6 elevated circulating parathyroid hormone (pth) level53 Very frequent (99-80%)
7 abnormality of the parathyroid morphology53 Very frequent (99-80%)
8 nephrocalcinosis53 Frequent (79-30%)
9 uterine leiomyoma53 Frequent (79-30%)
10 nephrolithiasis63 53 Frequent (79-30%) HP:0000787
11 osteoporosis53 Frequent (79-30%)
12 polydipsia53 Frequent (79-30%)
13 dysphagia53 Frequent (79-30%)
14 infantile hypercalcemia53 Frequent (79-30%)
15 fibroma53 Frequent (79-30%)
16 shortened qt interval53 Frequent (79-30%)
17 fatigue53 Frequent (79-30%)
18 renal insufficiency53 Occasional (29-5%)
19 renal cyst53 Occasional (29-5%)
20 chondrocalcinosis53 Occasional (29-5%)
21 muscle weakness53 Occasional (29-5%)
22 pancreatitis53 Occasional (29-5%)
23 nausea and vomiting53 Occasional (29-5%)
24 constipation53 Occasional (29-5%)
25 headache53 Occasional (29-5%)
26 episodic abdominal pain53 Occasional (29-5%)
27 bone pain53 Occasional (29-5%)
28 peptic ulcer53 Occasional (29-5%)
29 renal hamartoma53 Occasional (29-5%)
30 mandibular pain53 Occasional (29-5%)
31 nephroblastoma (wilms tumor)53 Very rare (<4-1%)
32 thyroid carcinoma53 Very rare (<4-1%)
33 pancreatic adenocarcinoma63 53 Very rare (<4-1%) HP:0006725
34 testicular neoplasm53 Very rare (<4-1%)
35 lipoma53 Very rare (<4-1%)
36 polycystic kidney dysplasia63 HP:0000113
37 abnormality of the head63 HP:0000234
38 hyperparathyroidism63 HP:0000843
39 nephroblastoma63 HP:0002667
40 renal cortical adenoma63 HP:0006735
41 papillary renal cell carcinoma63 HP:0006766
42 parathyroid carcinoma63 HP:0006780
43 hurthle cell thyroid adenoma63 HP:0006781
44 hamartoma63 HP:0010566
45 recurrent pancreatitis63 HP:0100027

Drugs & Therapeutics for Hyperparathyroidism-Jaw Tumor Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Hyperparathyroidism-Jaw Tumor Syndrome

Genetic Tests for Hyperparathyroidism-Jaw Tumor Syndrome

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Genetic tests related to Hyperparathyroidism-Jaw Tumor Syndrome:

id Genetic test Affiliating Genes
1 Hyperparathyroidism 226
2 Hyperparathyroidism-Jaw Tumor Syndrome24 CDC73

Anatomical Context for Hyperparathyroidism-Jaw Tumor Syndrome

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MalaCards organs/tissues related to Hyperparathyroidism-Jaw Tumor Syndrome:

35
Kidney, Bone, Uterus, Thyroid

Animal Models for Hyperparathyroidism-Jaw Tumor Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Hyperparathyroidism-Jaw Tumor Syndrome:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.5CASR, CDC73, MEN1, RET
2MP:00053848.5CASR, CCND1, CDC73, MEN1, RET
3MP:00053818.4CASR, CCND1, CDC73, MEN1, RET
4MP:00053798.4CASR, CCND1, CDC73, MEN1, RET
5MP:00053878.4CASR, CCND1, CDC73, MEN1, RET

Publications for Hyperparathyroidism-Jaw Tumor Syndrome

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Articles related to Hyperparathyroidism-Jaw Tumor Syndrome:

(show all 37)
idTitleAuthorsYear
1
Recurrence of Hyperparathyroid Hypercalcemia in a Patient With the HRPT-2 Mutation and a Previous Parathyroid Carcinoma in Hyperparathyroidism-Jaw Tumor Syndrome. (27679651)
2016
2
Primary hyperparathyroidism-jaw tumor syndrome: a confusing and forgotten diagnosis. (27857527)
2016
3
Hyperparathyroidism-jaw Tumor Syndrome: An Overlooked Cause of Severe Hypercalcemia. (27650236)
2016
4
Hyperparathyroidism-Jaw Tumor Syndrome-An Overlooked Cause of Severe Hypercalcemia. (26445301)
2015
5
Management of Ossifying Fibroma in a Suspicious Case of Hyperparathyroid-Jaw Tumor Syndrome. (26269732)
2015
6
Tumor suppressor gene mutation in a patient with a history of hyperparathyroidism-jaw tumor syndrome and healed generalized osteitis fibrosa cystica: a case report and genetic pathophysiology review. (25511968)
2015
7
Hyperparathyroidism-jaw tumor syndrome: Results of operative management. (25444225)
2014
8
Hyperparathyroidism-jaw tumor syndrome. (22302605)
2013
9
Aromatase inhibitor treatment ofA menorrhagia and subsequent pregnancy in a patient with familial hyperparathyroidism-jaw tumor syndrome. (22963808)
2012
10
Hyperparathyroidism-jaw tumor syndrome: a case report. (19942209)
2010
11
Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors. (20052758)
2010
12
Defective nucleolar localization and dominant interfering properties of a parafibromin L95P missense mutant causing the hyperparathyroidism-jaw tumor syndrome. (20304979)
2010
13
Hyperparathyroidism-jaw tumor syndrome: a report of three large kindred. (19529956)
2009
14
Hyperparathyroidism-jaw tumor syndrome: a case report. (19138622)
2009
15
Hyperparathyroidism-jaw tumor syndrome. (19368060)
2009
16
Hyperparathyroidism-jaw tumor syndrome. A hereditary form of primary hyperparathyroidism with parathyroid carcinoma]. (17583828)
2007
17
Nuclear localization of the parafibromin tumor suppressor protein implicated in the hyperparathyroidism-jaw tumor syndrome enhances its proapoptotic function. (17314275)
2007
18
Dental findings in a family with hyperparathyroidism-jaw tumor syndrome and a novel HRPT2 gene mutation. (16448924)
2006
19
HRPT2, a tumor suppressor gene for hyperparathyroidism-jaw tumor syndrome. (16001331)
2005
20
A Novel IVS2-1G>A mutation causes aberrant splicing of the HRPT2 gene in a family with hyperparathyroidism-jaw tumor syndrome. (15613436)
2005
21
Parafibromin, product of the hyperparathyroidism-jaw tumor syndrome gene HRPT2, regulates cyclin D1/PRAD1 expression. (15580289)
2005
22
Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome. (14715834)
2004
23
Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome. (15046050)
2004
24
A molecular diagnosis of hyperparathyroidism-jaw tumor syndrome in an adolescent with recurrent kidney stones. (15480389)
2004
25
Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome. (15046109)
2004
26
Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome. (15046094)
2004
27
Renal neoplasia in the hyperparathyroidism-jaw tumor syndrome. (15579037)
2004
28
Hyperparathyroidism-jaw tumor syndrome in Roma families from Portugal is due to a founder mutation of the HRPT2 gene. (15070940)
2004
29
Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome. (15046098)
2004
30
Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome. (15046102)
2004
31
Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome. (15046107)
2004
32
Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome. (15046105)
2004
33
HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. (12434154)
2002
34
Revised 14.7-cM locus for the hyperparathyroidism-jaw tumor syndrome gene, HRPT2. (11951180)
2002
35
A genotypic and histopathological study of a large Dutch kindred with hyperparathyroidism-jaw tumor syndrome. (10770180)
2000
36
Hyperparathyroidism-jaw tumor syndrome: the HRPT2 locus is within a 0.7-cM region on chromosome 1q. (9973288)
1999
37
Hereditary hyperparathyroidism-jaw tumor syndrome: the endocrine tumor gene HRPT2 maps to chromosome 1q21-q31. (7717405)
1995

Variations for Hyperparathyroidism-Jaw Tumor Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Hyperparathyroidism-Jaw Tumor Syndrome:

69
id Symbol AA change Variation ID SNP ID
1CDC73p.Asp379AsnVAR_064936

Clinvar genetic disease variations for Hyperparathyroidism-Jaw Tumor Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CDC73NM_024529.4(CDC73): c.237+1G> TSNVPathogenicrs794727303GRCh37Chr 1, 193094348: 193094348
2CDC73NM_024529.4(CDC73): c.3G> A (p.Met1Ile)SNVPathogenicrs28942098GRCh38Chr 1, 193122203: 193122203
3CDC73NM_024529.4(CDC73): c.25C> T (p.Arg9Ter)SNVPathogenicrs121434262GRCh37Chr 1, 193091355: 193091355
4CDC73CDC73, 41-BP DUP/INSduplicationPathogenicChr na, -1: -1
5CDC73NM_024529.4(CDC73): c.679_680insAG (p.Arg227Lysfs)insertionPathogenicrs80356649GRCh37Chr 1, 193111146: 193111147
6CDC73CDC73, 2-BP DELdeletionPathogenicChr na, -1: -1
7CDC73NM_024529.4(CDC73): c.238-1G> ASNVPathogenicrs587776559GRCh37Chr 1, 193099303: 193099303

Expression for genes affiliated with Hyperparathyroidism-Jaw Tumor Syndrome

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Search GEO for disease gene expression data for Hyperparathyroidism-Jaw Tumor Syndrome.

Pathways for genes affiliated with Hyperparathyroidism-Jaw Tumor Syndrome

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Pathways related to Hyperparathyroidism-Jaw Tumor Syndrome according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.0CCND1, RET
2
Show member pathways
7.1CASR, CCND1, CDC73, MEN1, POLR2L, RET

GO Terms for genes affiliated with Hyperparathyroidism-Jaw Tumor Syndrome

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Biological processes related to Hyperparathyroidism-Jaw Tumor Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of epithelial cell proliferationGO:00506809.6CDC73, MEN1
2transcription elongation from RNA polymerase II promoterGO:00063689.6CDC73, POLR2L
3beta-catenin-TCF complex assemblyGO:19048379.3CDC73, MEN1

Sources for Hyperparathyroidism-Jaw Tumor Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet