MCID: HYP108
MIFTS: 39

Hyperparathyroidism-Jaw Tumor Syndrome malady

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

Summaries for Hyperparathyroidism-Jaw Tumor Syndrome

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NIH Rare Diseases:41 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 hyperparathyroidism 2, is related to hyperparathyroidism and parathyroid adenoma, 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). 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:45 145001

Aliases & Classifications for Hyperparathyroidism-Jaw Tumor Syndrome

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 47Orphanet, 60UMLS, 22GTR, 43Novoseek, 26ICD10 via Orphanet
See all sources

Hyperparathyroidism-Jaw Tumor Syndrome, Aliases & Descriptions:

Name: Hyperparathyroidism-Jaw Tumor Syndrome 45 10 41 20 21 47 60
Hyperparathyroidism 2 45 41 21 22
Hpt-Jt 41 21 47
Familial Primary Hyperparathyroidism with Multiple Ossifying Jaw Fibromas 41 21
Hereditary Hyperparathyroidism-Jaw Tumor Syndrome 41 21
 
Hrpt2 41 43
Parathyroid Adenomatosis, Familial Cystic 60
Familial Cystic Parathyroid Adenomatosis 21
Parathyroid Adenoma with Cystic Changes 45


Classifications:



External Ids:

OMIM45 145001
Orphanet47 99880
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 Suite gene sharing:

(show all 14)
idRelated DiseaseScoreTop Affiliating Genes
1hyperparathyroidism31.3CDC73, CASR
2parathyroid adenoma30.4CDC73, CASR
3parathyroid carcinoma30.3CASR, CDC73
4adenoma30.3CDC73, CASR
5primary hyperparathyroidism30.3CDC73, CASR
6osteitis fibrosa10.3
7ossifying fibroma10.2
8fibroma10.2
9hyperparathyroidism, familial primary10.0
10fibrous dysplasia10.0
11cdc73-related disorders10.0
12parathyroid gland disease9.9CDC73, CASR
13multiple endocrine neoplasia 19.9CASR, CDC73
14hypercalcemia9.7CDC73, CASR

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:

31
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:

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

62
id Symbol AA change Variation ID SNP ID
1CDC73p.Asp379AsnVAR_064936

Clinvar genetic disease variations for Hyperparathyroidism-Jaw Tumor Syndrome:

6
id Gene Variation 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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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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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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet