MCID: HYP108
MIFTS: 34

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 50 46 23 24 52 68 12 66
Hpt-Jt 46 23 24 52 68
Familial Primary Hyperparathyroidism with Multiple Ossifying Jaw Fibromas 46 24 68
Hyperparathyroidism 2 50 46 24
Hrpt2 46 68 48
Hereditary Hyperparathyroidism-Jaw Tumor Syndrome 46 24
 
Hyperparathyroidism Type 2 68 25
Parathyroid Adenomatosis, Familial Cystic 66
Familial Cystic Parathyroid Adenomatosis 24
Parathyroid Adenoma with Cystic Changes 50
Hyperparathyroidism Jaw Tumor Syndrome 23

Characteristics:

Orphanet epidemiological data:

52
hyperparathyroidism-jaw tumor syndrome:
Age of onset: Adolescent,Adult

HPO:

62
hyperparathyroidism-jaw tumor syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 145001
Orphanet52 ORPHA99880
ICD10 via Orphanet29 E21.0

Summaries for Hyperparathyroidism-Jaw Tumor Syndrome

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NIH Rare Diseases:46 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 and hypercalcemia, and has symptoms including polycystic kidney dysplasia, abnormality of the head and nephrolithiasis. An important gene associated with Hyperparathyroidism-Jaw Tumor Syndrome is CDC73 (Cell Division Cycle 73). Affiliated tissues include kidney, bone and uterus.

Genetics Home Reference:24 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:68 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:50 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:

idRelated DiseaseScoreTop Affiliating Genes
1hyperparathyroidism10.8
2hypercalcemia10.1
3parathyroid carcinoma10.0
4fibroma10.0
5primary hyperparathyroidism10.0
6ossifying fibroma10.0
7osteitis fibrosa10.0

Graphical network of 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 polycystic kidney dysplasia HP:0000113
2 abnormality of the head HP:0000234
3 nephrolithiasis HP:0000787
4 hyperparathyroidism HP:0000843
5 nephroblastoma HP:0002667
6 parathyroid adenoma HP:0002897
7 hypercalcemia HP:0003072
8 pancreatic adenocarcinoma HP:0006725
9 renal cortical adenoma HP:0006735
10 papillary renal cell carcinoma HP:0006766
11 parathyroid carcinoma HP:0006780
12 hurthle cell thyroid adenoma HP:0006781
13 hamartoma HP:0010566
14 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 225
2 Hyperparathyroidism-Jaw Tumor Syndrome23 CDC73

Anatomical Context for Hyperparathyroidism-Jaw Tumor Syndrome

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

34
Kidney, Bone, Uterus, Thyroid

Animal Models for Hyperparathyroidism-Jaw Tumor Syndrome or affiliated genes

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Publications for Hyperparathyroidism-Jaw Tumor Syndrome

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Articles related to Hyperparathyroidism-Jaw Tumor Syndrome:

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

68
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

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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GO Terms for genes affiliated with Hyperparathyroidism-Jaw Tumor Syndrome

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Sources for Hyperparathyroidism-Jaw Tumor Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet