HRPT2
MCID: HYP108
MIFTS: 47

Hyperparathyroidism-Jaw Tumor Syndrome (HRPT2) 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 52 48 24 25 54 70 12 68
Hpt-Jt 48 24 25 54 70
Hyperparathyroidism 2 52 48 25 27
Familial Primary Hyperparathyroidism with Multiple Ossifying Jaw Fibromas 48 25 70
Hrpt2 48 70 50
Hereditary Hyperparathyroidism-Jaw Tumor Syndrome 48 25
 
Parathyroid Adenomatosis, Familial Cystic 68
Familial Cystic Parathyroid Adenomatosis 25
Parathyroid Adenoma with Cystic Changes 52
Hyperparathyroidism Jaw Tumor Syndrome 24
Hyperparathyroidism 2 with Jaw Tumors 70

Characteristics:

Orphanet epidemiological data:

54
hyperparathyroidism-jaw tumor syndrome:
Age of onset: Adolescent,Adult

HPO:

64
hyperparathyroidism-jaw tumor syndrome:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 145001
Orphanet54 ORPHA99880
ICD10 via Orphanet31 E21.0
MedGen37 C1704981
MeSH39 D049950

Summaries for Hyperparathyroidism-Jaw Tumor Syndrome

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NIH Rare Diseases:48 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 parathyroid carcinoma and hyperparathyroidism 3, 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.

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.

UniProtKB/Swiss-Prot:70 Hyperparathyroidism 2 with jaw tumors: An autosomal dominant neoplasia syndrome characterized by primary hyperparathyroidism, ossifying fibroma of the maxilla and/or mandible, renal tumor, and uterine tumors. It is associated with increased risk of parathyroid cancer.

Description from OMIM:52 145001

Related Diseases for Hyperparathyroidism-Jaw Tumor Syndrome

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



Diseases related to hyperparathyroidism-jaw tumor syndrome

Symptoms & Phenotypes 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:

 54 64 (show all 44)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 parathyroid adenoma64 54 Obligate (100%) HP:0002897
2 hypercalcemia64 54 Obligate (100%) HP:0003072
3 primary hyperparathyroidism64 54 Obligate (100%) HP:0008200
4 hypophosphatemia64 54 Very frequent (99-80%) HP:0002148
5 hypercalciuria64 54 Very frequent (99-80%) HP:0002150
6 elevated circulating parathyroid hormone level64 54 Very frequent (99-80%) HP:0003165
7 abnormality of the parathyroid morphology54 Very frequent (99-80%)
8 nephrocalcinosis64 54 Frequent (79-30%) HP:0000121
9 uterine leiomyoma64 54 Frequent (79-30%) HP:0000131
10 nephrolithiasis64 54 Frequent (79-30%) HP:0000787
11 osteoporosis64 54 Frequent (79-30%) HP:0000939
12 polydipsia64 54 Frequent (79-30%) HP:0001959
13 dysphagia64 54 Frequent (79-30%) HP:0002015
14 infantile hypercalcemia64 54 Frequent (79-30%) HP:0008250
15 fibroma64 54 Frequent (79-30%) HP:0010614
16 shortened qt interval64 54 Frequent (79-30%) HP:0012232
17 fatigue64 54 Frequent (79-30%) HP:0012378
18 renal insufficiency64 54 Occasional (29-5%) HP:0000083
19 renal cyst64 54 Occasional (29-5%) HP:0000107
20 chondrocalcinosis64 54 Occasional (29-5%) HP:0000934
21 muscle weakness64 54 Occasional (29-5%) HP:0001324
22 pancreatitis64 54 Occasional (29-5%) HP:0001733
23 nausea and vomiting64 54 Occasional (29-5%) HP:0002017
24 constipation64 54 Occasional (29-5%) HP:0002019
25 headache64 54 Occasional (29-5%) HP:0002315
26 episodic abdominal pain64 54 Occasional (29-5%) HP:0002574
27 bone pain64 54 Occasional (29-5%) HP:0002653
28 peptic ulcer64 54 Occasional (29-5%) HP:0004398
29 renal hamartoma64 54 Occasional (29-5%) HP:0008696
30 mandibular pain64 54 Occasional (29-5%) HP:0200025
31 nephroblastoma64 54 Very rare (<4-1%) HP:0002667
32 thyroid carcinoma64 54 Very rare (<4-1%) HP:0002890
33 pancreatic adenocarcinoma64 54 Very rare (<4-1%) HP:0006725
34 testicular neoplasm64 54 Very rare (<4-1%) HP:0010788
35 lipoma64 54 Very rare (<4-1%) HP:0012032
36 polycystic kidney dysplasia64 HP:0000113
37 abnormality of the head64 HP:0000234
38 hyperparathyroidism64 HP:0000843
39 renal cortical adenoma64 HP:0006735
40 papillary renal cell carcinoma64 HP:0006766
41 parathyroid carcinoma64 HP:0006780
42 hurthle cell thyroid adenoma64 HP:0006781
43 hamartoma64 HP:0010566
44 recurrent pancreatitis64 HP:0100027

MGI Mouse Phenotypes related to Hyperparathyroidism-Jaw Tumor Syndrome according to GeneCards Suite gene sharing:

41
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

Drugs & Therapeutics for Hyperparathyroidism-Jaw Tumor Syndrome

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Drugs for Hyperparathyroidism-Jaw Tumor Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Formaldehydeapproved, vet_approved9350-00-0712
Synonyms:
Aldeide formica
Fannoform
Formaldehyde
Formalin
Formalina
Formaline
Formalith
Formic aldehyde
Formol
 
Methaldehyde
Methanal
Methyl aldehyde
Methylene glycol
Methylene oxide
Oxomethane
Oxomethylene
Oxymethylene
Paraform
Paraformaldehyde

Interventional clinical trials:

idNameStatusNCT IDPhase
1Gene Expression in HyperparathyroidismRecruitingNCT03044600

Search 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 227
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:

36
Kidney, Bone, Uterus, Thyroid

Publications for Hyperparathyroidism-Jaw Tumor Syndrome

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Articles related to Hyperparathyroidism-Jaw Tumor Syndrome:

(show all 37)
idTitleAuthorsYear
1
Hyperparathyroidism-jaw Tumor Syndrome: An Overlooked Cause of Severe Hypercalcemia. (27650236)
2016
2
Recurrence of Hyperparathyroid Hypercalcemia in a Patient With the HRPT-2 Mutation and a Previous Parathyroid Carcinoma in Hyperparathyroidism-Jaw Tumor Syndrome. (27679651)
2016
3
Primary hyperparathyroidism-jaw tumor syndrome: a confusing and forgotten diagnosis. (27857527)
2016
4
Management of Ossifying Fibroma in a Suspicious Case of Hyperparathyroid-Jaw Tumor Syndrome. (26269732)
2015
5
Hyperparathyroidism-Jaw Tumor Syndrome-An Overlooked Cause of Severe Hypercalcemia. (26445301)
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. (19368060)
2009
15
Hyperparathyroidism-jaw tumor syndrome: a case report. (19138622)
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
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. (15046098)
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. (15046105)
2004
27
Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome. (15046094)
2004
28
Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome. (14715834)
2004
29
Hyperparathyroidism-jaw tumor syndrome in Roma families from Portugal is due to a founder mutation of the HRPT2 gene. (15070940)
2004
30
Renal neoplasia in the hyperparathyroidism-jaw tumor syndrome. (15579037)
2004
31
A molecular diagnosis of hyperparathyroidism-jaw tumor syndrome in an adolescent with recurrent kidney stones. (15480389)
2004
32
Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome. (15046050)
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:

70
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)SNVPathogenicrs28942098GRCh37Chr 1, 193091333: 193091333
3CDC73NM_ 024529.4(CDC73): c.25C> T (p.Arg9Ter)SNVPathogenicrs121434262GRCh37Chr 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> 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
1beta-catenin-TCF complex assemblyGO:190483710.2CDC73, MEN1
2negative regulation of epithelial cell proliferationGO:005068010.2CDC73, MEN1
3cellular response to glucose stimulusGO:007133310.1CASR, MEN1
4response to calcium ionGO:00515929.7CASR, CCND1
5transcription elongation from RNA polymerase II promoterGO:00063689.5CDC73, POLR2L

Sources for Hyperparathyroidism-Jaw Tumor Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet