HRPT2
MCID: HYP108
MIFTS: 38

Hyperparathyroidism-Jaw Tumor Syndrome (HRPT2) malady

Genetic diseases, Rare diseases, Nephrological diseases, Endocrine diseases, Cancer diseases, Oral diseases categories
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Summaries for Hyperparathyroidism-Jaw Tumor Syndrome

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21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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: Hyperparathyroidism-Jaw Tumor Syndrome, also known as hyperparathyroidism 2, is related to hyperparathyroidism and parathyroid adenoma. An important gene associated with Hyperparathyroidism-Jaw Tumor Syndrome is CDC73 (cell division cycle 73). Affiliated tissues include kidney and uterus, and related mouse phenotypes are renal/urinary system and digestive/alimentary.

Genetics Home Reference:21 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:47 145001

Aliases & Classifications for Hyperparathyroidism-Jaw Tumor Syndrome

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43NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 47OMIM, 49Orphanet, 62UMLS, 45Novoseek, 22GTR, 26ICD10 via Orphanet
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Classifications:



Aliases & Descriptions:

hyperparathyroidism-jaw tumor syndrome 43 20 21 47 49 62
hyperparathyroidism 2 43 22 21
hpt-jt 43 21 49
familial primary hyperparathyroidism with multiple ossifying jaw fibromas 43 21
hereditary hyperparathyroidism-jaw tumor syndrome 43 21
hrpt2 43 45
parathyroid adenomatosis, familial cystic 62
familial cystic parathyroid adenomatosis 21


External Ids:

OMIM47 145001
ICD10 via Orphanet26 E21.0

Related Diseases for Hyperparathyroidism-Jaw Tumor Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Hyperparathyroidism-Jaw Tumor Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 13)
idRelated DiseaseScoreTop Affiliating Genes
1hyperparathyroidism31.4CASR, CDC73
2parathyroid adenoma30.4CDC73, CASR
3adenoma30.4CDC73, CASR
4parathyroid carcinoma30.4CDC73, CASR
5primary hyperparathyroidism30.4CASR, CDC73
6familial isolated hyperparathyroidism10.3
7ossifying fibroma10.2
8fibroma10.2
9fibrous dysplasia10.0
10osteosarcoma10.0
11cdc73-related disorders10.0
12wermer syndrome10.0CDC73, CASR
13hypercalcemia9.9CASR, CDC73

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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47OMIM
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Symptoms by clinical synopsis from OMIM:

145001

Clinical features from OMIM:

145001

Drugs & Therapeutics for Hyperparathyroidism-Jaw Tumor Syndrome

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Hyperparathyroidism-Jaw Tumor Syndrome

Search NIH Clinical Center for Hyperparathyroidism-Jaw Tumor Syndrome

Genetic Tests for Hyperparathyroidism-Jaw Tumor Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Hyperparathyroidism-Jaw Tumor Syndrome:

id Genetic test Affiliating Genes
1 Hyperparathyroidism-Jaw Tumor Syndrome20 CDC73
2 Hyperparathyroidism 222

Anatomical Context for Hyperparathyroidism-Jaw Tumor Syndrome

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33MalaCards
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MalaCards organs/tissues related to Hyperparathyroidism-Jaw Tumor Syndrome:

33
Kidney, Uterus

Animal Models for Hyperparathyroidism-Jaw Tumor Syndrome or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Hyperparathyroidism-Jaw Tumor Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.2CDC73, CASR
2MP:00053819.1CDC73, CASR
3MP:00107719.1CDC73, CASR
4MP:00053699.0CASR, CDC73
5MP:00053798.8CDC73, CASR

Publications for Hyperparathyroidism-Jaw Tumor Syndrome

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52PubMed
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Articles related to Hyperparathyroidism-Jaw Tumor Syndrome:

(show all 29)
idTitleAuthorsYear
1
Hyperparathyroidism-jaw tumor syndrome. (22302605)
2013
2
Aromatase inhibitor treatment ofA menorrhagia and subsequent pregnancy in a patient with familial hyperparathyroidism-jaw tumor syndrome. (22963808)
2012
3
Hyperparathyroidism-jaw tumor syndrome: a case report. (19942209)
2010
4
Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors. (20052758)
2010
5
Defective nucleolar localization and dominant interfering properties of a parafibromin L95P missense mutant causing the hyperparathyroidism-jaw tumor syndrome. (20304979)
2010
6
Hyperparathyroidism-jaw tumor syndrome: a report of three large kindred. (19529956)
2009
7
Hyperparathyroidism-jaw tumor syndrome: a case report. (19138622)
2009
8
Hyperparathyroidism-jaw tumor syndrome. (19368060)
2009
9
Hyperparathyroidism-jaw tumor syndrome. A hereditary form of primary hyperparathyroidism with parathyroid carcinoma]. (17583828)
2007
10
Dental findings in a family with hyperparathyroidism-jaw tumor syndrome and a novel HRPT2 gene mutation. (16448924)
2006
11
HRPT2, a tumor suppressor gene for hyperparathyroidism-jaw tumor syndrome. (16001331)
2005
12
A Novel IVS2-1G>A mutation causes aberrant splicing of the HRPT2 gene in a family with hyperparathyroidism-jaw tumor syndrome. (15613436)
2005
13
Parafibromin, product of the hyperparathyroidism-jaw tumor syndrome gene HRPT2, regulates cyclin D1/PRAD1 expression. (15580289)
2005
14
Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome. (14715834)
2004
15
Renal neoplasia in the hyperparathyroidism-jaw tumor syndrome. (15579037)
2004
16
Hyperparathyroidism-jaw tumor syndrome in Roma families from Portugal is due to a founder mutation of the HRPT2 gene. (15070940)
2004
17
Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome. (15046098)
2004
18
Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome. (15046102)
2004
19
Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome. (15046107)
2004
20
Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome. (15046050)
2004
21
A molecular diagnosis of hyperparathyroidism-jaw tumor syndrome in an adolescent with recurrent kidney stones. (15480389)
2004
22
Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome. (15046105)
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
HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. (12434154)
2002
26
Revised 14.7-cM locus for the hyperparathyroidism-jaw tumor syndrome gene, HRPT2. (11951180)
2002
27
A genotypic and histopathological study of a large Dutch kindred with hyperparathyroidism-jaw tumor syndrome. (10770180)
2000
28
Hyperparathyroidism-jaw tumor syndrome: the HRPT2 locus is within a 0.7-cM region on chromosome 1q. (9973288)
1999
29
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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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Hyperparathyroidism-Jaw Tumor Syndrome:

64
id Symbol AA change Variation ID SNP ID
1CDC73p.Asp379AsnVAR_064936

Clinvar genetic disease variations for Hyperparathyroidism-Jaw Tumor Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1CDC73NM_024529.4(CDC73): c.3G> A (p.Met1Ile)single nucleotide variantPathogenicrs28942098GRCh37Chr 1, 193091333: 193091333
2CDC73NM_024529.4(CDC73): c.25C> T (p.Arg9Ter)single nucleotide variantPathogenicrs121434262GRCh37Chr 1, 193091355: 193091355

Expression for genes affiliated with Hyperparathyroidism-Jaw Tumor Syndrome

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hyperparathyroidism-Jaw Tumor Syndrome

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Pathways for genes affiliated with Hyperparathyroidism-Jaw Tumor Syndrome

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Compounds 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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Products for genes affiliated with Hyperparathyroidism-Jaw Tumor Syndrome

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Sources for Hyperparathyroidism-Jaw Tumor Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet