MCID: HYP108
MIFTS: 46

Hyperparathyroidism-Jaw Tumor Syndrome malady

Categories: Genetic diseases, Rare diseases, Nephrological diseases, Endocrine diseases, Cancer 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 49 11 45 22 23 51 67 65
Hpt-Jt 45 22 23 51 67
Familial Primary Hyperparathyroidism with Multiple Ossifying Jaw Fibromas 45 23 67
Hrpt2 45 47 67
Hereditary Hyperparathyroidism-Jaw Tumor Syndrome 45 23
Hyperparathyroidism Type 2 67 24
 
Hyperparathyroidism 2 45 23
Parathyroid Adenomatosis, Familial Cystic 65
Familial Cystic Parathyroid Adenomatosis 23
Parathyroid Adenoma with Cystic Changes 49
Hyperparathyroidism Jaw Tumor Syndrome 22

Characteristics:

HPO:

61
hyperparathyroidism-jaw tumor syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 145001
Orphanet51 99880
ICD10 via Orphanet28 E21.0
UMLS65 C1704981, C1840394

Summaries for Hyperparathyroidism-Jaw Tumor Syndrome

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NIH Rare Diseases:45 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 primary hyperparathyroidism and parathyroid carcinoma, and has symptoms including recurrent pancreatitis, hamartoma and hurthle cell thyroid adenoma. 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, uterus and bone, and related mouse phenotypes are muscle and endocrine/exocrine gland.

UniProtKB/Swiss-Prot:67 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:23 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:49 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
1primary hyperparathyroidism28.9CASR, CDC73, MEN1, RET
2parathyroid carcinoma28.6CASR, CCND1, CDC73, MEN1
3hyperparathyroidism10.8
4hyperparathyroidism 310.3CDC73, MEN1
5hyperparathyroidism, familial primary10.3CDC73, MEN1
6central nervous system organ benign neoplasm10.2CDC73, MEN1
7leukodystrophy10.2CASR, CDC73
8central hypoventilation syndrome, congenital10.0MEN1, RET
9fibroma10.0
10hypercalcemia10.0
11ossifying fibroma10.0
12osteitis fibrosa10.0
13myopathy with deficiency of iron-sulfur cluster assembly enzyme10.0MEN1, RET
14qazi markouizos syndrome10.0MEN1, RET
15nephrocalcinosis9.9CASR, CDC73
16steroid inherited metabolic disorder9.9MEN1, RET
17medullary thyroid carcinoma, familial9.9MEN1, RET
18autosomal recessive disease9.9MEN1, RET
19frontotemporal dementia and/or amyotrophic lateral sclerosis 49.7MEN1, RET
20multiple endocrine neoplasia iib9.7CDC73, MEN1, RET
21chorea, hereditary benign9.4CCND1, RET
22von hippel-lindau syndrome9.3CCND1, MEN1, RET
23angelucci's syndrome9.2CASR, CDC73, MEN1, RET
24immunodeficiency, common variable, 59.2CASR, CDC73, MEN1, RET
25low tension glaucoma9.2CASR, CDC73, MEN1, RET
26cell type cancer9.2CCND1, RET
27organ system benign neoplasm8.9CCND1, CDC73, MEN1, RET
28non-invasive bladder urothelial carcinoma8.9CCND1, CDC73, MEN1, RET
29parathyroid transitional clear cell adenoma8.5CASR, CCND1, CDC73, MEN1, RET
30hyperparathyroidism-jaw tumor syndrome8.0CASR, CCND1, CDC73, MEN1, POLR2L, 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

HPO human phenotypes related to Hyperparathyroidism-Jaw Tumor Syndrome:

(show all 14)
id Description Frequency HPO Source Accession
1 recurrent pancreatitis HP:0100027
2 hamartoma HP:0010566
3 hurthle cell thyroid adenoma HP:0006781
4 parathyroid carcinoma HP:0006780
5 papillary renal cell carcinoma HP:0006766
6 renal cortical adenoma HP:0006735
7 pancreatic adenocarcinoma HP:0006725
8 hypercalcemia HP:0003072
9 parathyroid adenoma HP:0002897
10 nephroblastoma (wilms tumor) HP:0002667
11 hyperparathyroidism HP:0000843
12 nephrolithiasis HP:0000787
13 abnormality of the head HP:0000234
14 polycystic kidney dysplasia HP:0000113

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-Jaw Tumor Syndrome22 CDC73

Anatomical Context for Hyperparathyroidism-Jaw Tumor Syndrome

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

33
Kidney, Uterus, Bone, Thyroid, Heart, Myeloid, Prostate

Animal Models for Hyperparathyroidism-Jaw Tumor Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Hyperparathyroidism-Jaw Tumor Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.2CASR, CDC73, MEN1, RET
2MP:00053797.9CASR, CCND1, CDC73, MEN1, RET
3MP:00053817.7CASR, CCND1, CDC73, MEN1, RET
4MP:00053847.6CASR, CCND1, CDC73, MEN1, RET
5MP:00053877.6CASR, CCND1, CDC73, MEN1, RET

Publications for Hyperparathyroidism-Jaw Tumor Syndrome

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Articles related to Hyperparathyroidism-Jaw Tumor Syndrome:

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

67
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> Tsingle nucleotide variantPathogenicrs794727303GRCh37Chr 1, 193094348: 193094348
2CDC73NM_024529.4(CDC73): c.3G> A (p.Met1Ile)single nucleotide variantPathogenicrs28942098GRCh37Chr 1, 193091333: 193091333
3CDC73NM_024529.4(CDC73): c.25C> T (p.Arg9Ter)single nucleotide variantPathogenicrs121434262GRCh37Chr 1, 193091355: 193091355
4CDC73CDC73, 41-BP DUP/INSduplicationPathogenic
5CDC73NM_024529.4(CDC73): c.679_680insAG (p.Arg227Lysfs)insertionPathogenicrs80356649GRCh37Chr 1, 193111146: 193111147
6CDC73CDC73, 2-BP DELdeletionPathogenic
7CDC73NM_024529.4(CDC73): c.238-1G> Asingle nucleotide variantPathogenicrs587776559GRCh37Chr 1, 193099303: 193099303

Cosmic variations for Hyperparathyroidism-Jaw Tumor Syndrome:

7
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
1COSM5673CTNNB1bone,maxilla,carcinoma,NS3
2COSM24747CTNNB1bone,mandible,carcinoma,NS3

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

idNameGO IDScoreTop Affiliating Genes
1neuronal cell bodyGO:00430259.3CASR, RET

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1beta-catenin-TCF complex assemblyGO:19048379.9CDC73, MEN1
2cellular response to glucose stimulusGO:00713339.7CASR, MEN1
3DNA repairGO:00062819.4MEN1, POLR2L
4response to calcium ionGO:00515929.4CASR, CCND1
5response to organic cyclic compoundGO:00140709.1CASR, CCND1
6Wnt signaling pathwayGO:00160558.9CCND1, CDC73
7negative regulation of transcription from RNA polymerase II promoterGO:00001228.9CCND1, CDC73, MEN1

Sources for Hyperparathyroidism-Jaw Tumor Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet