HRPT2
MCID: HYP108
MIFTS: 40

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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NIH Rare Diseases:42 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 familial primary hyperparathyroidism with multiple ossifying jaw fibromas, is related to hyperparathyroidism and parathyroid adenoma, and has symptoms including An important gene associated with Hyperparathyroidism-Jaw Tumor Syndrome is CDC73 (cell division cycle 73). Affiliated tissues include kidney, bone 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:46 145001

Aliases & Classifications for Hyperparathyroidism-Jaw Tumor Syndrome

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Sources:
42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 46OMIM, 48Orphanet, 62UMLS, 44Novoseek, 22GTR, 26ICD10 via Orphanet
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Hyperparathyroidism-Jaw Tumor Syndrome, Aliases & Descriptions:

Name: Hyperparathyroidism-Jaw Tumor Syndrome 42 20 21 46 48 62
Familial Primary Hyperparathyroidism with Multiple Ossifying Jaw Fibromas 42 21 62
Hereditary Hyperparathyroidism-Jaw Tumor Syndrome 42 21 62
Hyperparathyroidism 2 42 22 21
 
Hpt-Jt 42 21 48
Hrpt2 42 44
Parathyroid Adenomatosis, Familial Cystic 62
Familial Cystic Parathyroid Adenomatosis 21


Classifications:



External Ids:

OMIM46 145001
ICD10 via Orphanet26 E21.0

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/GeneDecks gene sharing:

(show all 13)
idRelated DiseaseScoreTop Affiliating Genes
1hyperparathyroidism31.3CASR, CDC73
2parathyroid adenoma30.4CDC73, CASR
3parathyroid carcinoma30.3CDC73, CASR
4adenoma30.3CDC73, CASR
5primary hyperparathyroidism30.3CASR, CDC73
6familial isolated hyperparathyroidism10.3
7ossifying fibroma10.2
8fibroma10.2
9fibrous dysplasia10.0
10osteosarcoma10.0
11cdc73-related disorders10.0
12wermer syndrome9.9CDC73, CASR
13hypercalcemia9.8CASR, 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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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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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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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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MalaCards organs/tissues related to Hyperparathyroidism-Jaw Tumor Syndrome:

32
Kidney, Bone, Uterus

Animal Models for Hyperparathyroidism-Jaw Tumor Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Hyperparathyroidism-Jaw Tumor Syndrome:

36
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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Articles related to Hyperparathyroidism-Jaw Tumor Syndrome:

(show all 30)
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
Nuclear localization of the parafibromin tumor suppressor protein implicated in the hyperparathyroidism-jaw tumor syndrome enhances its proapoptotic function. (17314275)
2007
11
Dental findings in a family with hyperparathyroidism-jaw tumor syndrome and a novel HRPT2 gene mutation. (16448924)
2006
12
HRPT2, a tumor suppressor gene for hyperparathyroidism-jaw tumor syndrome. (16001331)
2005
13
A Novel IVS2-1G>A mutation causes aberrant splicing of the HRPT2 gene in a family with hyperparathyroidism-jaw tumor syndrome. (15613436)
2005
14
Parafibromin, product of the hyperparathyroidism-jaw tumor syndrome gene HRPT2, regulates cyclin D1/PRAD1 expression. (15580289)
2005
15
Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome. (14715834)
2004
16
Renal neoplasia in the hyperparathyroidism-jaw tumor syndrome. (15579037)
2004
17
Hyperparathyroidism-jaw tumor syndrome in Roma families from Portugal is due to a founder mutation of the HRPT2 gene. (15070940)
2004
18
Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome. (15046098)
2004
19
Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome. (15046102)
2004
20
Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome. (15046107)
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. (15046105)
2004
24
Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome. (15046109)
2004
25
Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome. (15046094)
2004
26
HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. (12434154)
2002
27
Revised 14.7-cM locus for the hyperparathyroidism-jaw tumor syndrome gene, HRPT2. (11951180)
2002
28
A genotypic and histopathological study of a large Dutch kindred with hyperparathyroidism-jaw tumor syndrome. (10770180)
2000
29
Hyperparathyroidism-jaw tumor syndrome: the HRPT2 locus is within a 0.7-cM region on chromosome 1q. (9973288)
1999
30
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:

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

Clinvar genetic disease variations for Hyperparathyroidism-Jaw Tumor Syndrome:

6
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
3CDC73CDC73, 41-BP DUP/INSduplicationPathogenic
4CDC73CDC73, 2-BP DELdeletionPathogenic
5CDC73NM_024529.4(CDC73): c.238-1G> Asingle nucleotide variantPathogenicGRCh37Chr 1, 193099303: 193099303

Expression for genes affiliated with Hyperparathyroidism-Jaw Tumor Syndrome

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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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet