MCID: HYP108
MIFTS: 46

Hyperparathyroidism-Jaw Tumor Syndrome malady

Genetic diseases, Rare diseases, Nephrological diseases, Endocrine diseases, Cancer diseases, Oral diseases categories

Aliases & Classifications for Hyperparathyroidism-Jaw Tumor Syndrome

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 51Orphanet, 65UMLS, 67UniProtKB/Swiss-Prot, 47Novoseek, 24GTR, 28ICD10 via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Hyperparathyroidism-Jaw Tumor Syndrome:

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


Classifications:



External Ids:

OMIM49 145001
Orphanet51 99880
ICD10 via Orphanet28 E21.0

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 hyperparathyroidism 3 and parathyroid carcinoma, and has symptoms including autosomal dominant inheritance, polycystic kidney dysplasia and abnormality of the head. An important gene associated with Hyperparathyroidism-Jaw Tumor Syndrome is CDC73 (Cell Division Cycle 73), and among its related pathways is Thyroid cancer. Affiliated tissues include kidney, bone and uterus, and related mouse phenotypes are muscle and digestive/alimentary.

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.

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.

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 37)
idRelated DiseaseScoreTop Affiliating Genes
1hyperparathyroidism 330.2CDC73, MEN1
2parathyroid carcinoma29.8CASR, CCND1, CDC73, MEN1
3hyperparathyroidism11.0
4adenoma10.3
5parathyroid adenoma10.3
6primary hyperparathyroidism10.3
7hypercalcemia10.3
8ossifying fibroma10.3
9osteitis fibrosa10.3
10fibroma10.3
11acute megakaryoblastic leukemia in down syndrome10.1CDC73, MEN1
12hyperparathyroidism, familial primary10.1CDC73, MEN1
13endocrine pancreas disease10.1CDC73, MEN1
14fibrous dysplasia10.1
15cdc73-related disorders10.1
16candidiasis10.1CASR, CDC73
17multiple endocrine neoplasia iib10.0MEN1, RET
18nephrocalcinosis10.0CASR, CDC73
19primary hyperoxaluria10.0
20kidney disease10.0
21myopathy with deficiency of iron-sulfur cluster assembly enzyme10.0MEN1, RET
22medullary thyroid carcinoma, familial10.0MEN1, RET
23extrahepatic bile duct lipoma9.9CCND1, MEN1
24neurofibroma9.9MEN1, RET
25thyroid cancer, nonmedullary, 29.9MEN1, RET
26multiple endocrine neoplasia iia9.9CDC73, MEN1, RET
27endocrine organ benign neoplasm9.8MEN1, RET
28chorea, hereditary benign9.8CCND1, RET
29von hippel-lindau syndrome9.7CCND1, MEN1, RET
30parietal lobe neoplasm9.7CASR, CDC73, MEN1, RET
31facial neuralgia9.7CASR, CDC73, MEN1, RET
32multiple endocrine neoplasia 19.7CASR, CDC73, MEN1, RET
33hyperpituitarism9.7CASR, CDC73, MEN1, RET
34cell type cancer9.6CCND1, CDC73, MEN1, RET
35adenomyoma of uterine corpus9.5CCND1, CDC73, MEN1, RET
36parathyroid gland disease9.4CASR, CCND1, CDC73, MEN1, RET
37hyperparathyroidism-jaw tumor syndrome9.1CASR, 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 15)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 polycystic kidney dysplasia HP:0000113
3 abnormality of the head HP:0000234
4 nephrolithiasis HP:0000787
5 hyperparathyroidism HP:0000843
6 nephroblastoma (wilms tumor) HP:0002667
7 parathyroid adenoma HP:0002897
8 hypercalcemia HP:0003072
9 pancreatic adenocarcinoma HP:0006725
10 renal cortical adenoma HP:0006735
11 papillary renal cell carcinoma HP:0006766
12 parathyroid carcinoma HP:0006780
13 hurthle cell thyroid adenoma HP:0006781
14 hamartoma HP:0010566
15 recurrent pancreatitis 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-Jaw Tumor Syndrome22 CDC73
2 Hyperparathyroidism 224

Anatomical Context for Hyperparathyroidism-Jaw Tumor Syndrome

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

33
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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.7CASR, CDC73, MEN1, RET
2MP:00053817.9CASR, CCND1, CDC73, MEN1, RET
3MP:00053847.9CASR, CCND1, CDC73, MEN1, RET
4MP:00053897.9CCND1, CDC73, MEN1, RET
5MP:00053787.8CASR, CCND1, CDC73, MEN1, RET
6MP:00053767.6CASR, CCND1, CDC73, MEN1, RET
7MP:00053797.6CASR, CCND1, CDC73, MEN1, RET
8MP:00053877.5CASR, CCND1, CDC73, MEN1, RET

Publications for Hyperparathyroidism-Jaw Tumor Syndrome

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Articles related to Hyperparathyroidism-Jaw Tumor Syndrome:

(show all 33)
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. (22302605)
2013
5
Aromatase inhibitor treatment ofA menorrhagia and subsequent pregnancy in a patient with familial hyperparathyroidism-jaw tumor syndrome. (22963808)
2012
6
Hyperparathyroidism-jaw tumor syndrome: a case report. (19942209)
2010
7
Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors. (20052758)
2010
8
Defective nucleolar localization and dominant interfering properties of a parafibromin L95P missense mutant causing the hyperparathyroidism-jaw tumor syndrome. (20304979)
2010
9
Hyperparathyroidism-jaw tumor syndrome: a report of three large kindred. (19529956)
2009
10
Hyperparathyroidism-jaw tumor syndrome: a case report. (19138622)
2009
11
Hyperparathyroidism-jaw tumor syndrome. (19368060)
2009
12
Hyperparathyroidism-jaw tumor syndrome. A hereditary form of primary hyperparathyroidism with parathyroid carcinoma]. (17583828)
2007
13
Nuclear localization of the parafibromin tumor suppressor protein implicated in the hyperparathyroidism-jaw tumor syndrome enhances its proapoptotic function. (17314275)
2007
14
Dental findings in a family with hyperparathyroidism-jaw tumor syndrome and a novel HRPT2 gene mutation. (16448924)
2006
15
HRPT2, a tumor suppressor gene for hyperparathyroidism-jaw tumor syndrome. (16001331)
2005
16
A Novel IVS2-1G>A mutation causes aberrant splicing of the HRPT2 gene in a family with hyperparathyroidism-jaw tumor syndrome. (15613436)
2005
17
Parafibromin, product of the hyperparathyroidism-jaw tumor syndrome gene HRPT2, regulates cyclin D1/PRAD1 expression. (15580289)
2005
18
Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome. (14715834)
2004
19
Renal neoplasia in the hyperparathyroidism-jaw tumor syndrome. (15579037)
2004
20
Hyperparathyroidism-jaw tumor syndrome in Roma families from Portugal is due to a founder mutation of the HRPT2 gene. (15070940)
2004
21
Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome. (15046098)
2004
22
Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome. (15046102)
2004
23
Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome. (15046107)
2004
24
Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome. (15046050)
2004
25
A molecular diagnosis of hyperparathyroidism-jaw tumor syndrome in an adolescent with recurrent kidney stones. (15480389)
2004
26
Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome. (15046105)
2004
27
Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome. (15046109)
2004
28
Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome. (15046094)
2004
29
HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. (12434154)
2002
30
Revised 14.7-cM locus for the hyperparathyroidism-jaw tumor syndrome gene, HRPT2. (11951180)
2002
31
A genotypic and histopathological study of a large Dutch kindred with hyperparathyroidism-jaw tumor syndrome. (10770180)
2000
32
Hyperparathyroidism-jaw tumor syndrome: the HRPT2 locus is within a 0.7-cM region on chromosome 1q. (9973288)
1999
33
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
127097APCbone,mandible,carcinoma,ameloblastic carcinoma1

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 pathways (with members indented)ScoreTop Affiliating Genes
19.0CCND1, 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
1transcription elongation from RNA polymerase II promoterGO:00063689.5CDC73, POLR2L
2negative regulation of epithelial cell proliferationGO:00506809.3CDC73, 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