MCID: HYP108
MIFTS: 36

Hyperparathyroidism-Jaw Tumor Syndrome malady

Categories: Genetic diseases, Rare diseases, Nephrological diseases, Endocrine diseases, Cancer 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 49 11 45 22 23 51 67 65
Hpt-Jt 45 22 23 51 67
Familial Primary Hyperparathyroidism with Multiple Ossifying Jaw Fibromas 45 23 67
Hrpt2 45 47 67
Hereditary Hyperparathyroidism-Jaw Tumor Syndrome 45 23
Hyperparathyroidism Type 2 67 24
 
Hyperparathyroidism 2 45 23
Parathyroid Adenomatosis, Familial Cystic 65
Familial Cystic Parathyroid Adenomatosis 23
Parathyroid Adenoma with Cystic Changes 49
Hyperparathyroidism Jaw Tumor Syndrome 22

Characteristics:

HPO:

61
hyperparathyroidism-jaw tumor syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 145001
Orphanet51 99880
ICD10 via Orphanet28 E21.0
UMLS65 C1704981, C1840394

Summaries for Hyperparathyroidism-Jaw Tumor Syndrome

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NIH Rare Diseases:45 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 3 and leukemia, and has symptoms including recurrent pancreatitis, hamartoma and hurthle cell thyroid adenoma. 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 endocrine/exocrine gland.

UniProtKB/Swiss-Prot:67 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.

Genetics Home Reference:23 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:49 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:

(show top 50)    (show all 59)
idRelated DiseaseScoreTop Affiliating Genes
1hyperparathyroidism 330.8CDC73, MEN1
2leukemia10.6
3basal cell carcinoma10.6
4myeloid leukemia10.6
5schizophrenia10.2
6myocardial infarction10.2
7lung cancer10.2
8breast cancer10.2
9wiskott-aldrich syndrome10.2
10acute myocardial infarction10.2
11ischemic heart disease10.2
12keloids10.2
13giardiasis10.2
14pertussis10.2
15acute hemorrhagic conjunctivitis10.2
16corneal neovascularization10.2
17heart disease10.2
18leiomyoma10.2
19dementia10.2
20patent ductus arteriosus10.2
21prostatitis10.2
22cheilitis10.2
23cystic teratoma10.2
24adenocarcinoma10.2
25teratoma10.2
26laryngitis10.2
27retrograde amnesia10.2
28pneumonia10.2
29lymphoepithelioma-like carcinoma10.2
30conjunctivitis10.2
31thyroiditis10.2
32vascular dementia10.2
33acute mountain sickness10.2
34cheilitis glandularis10.2
35vulvar intraepithelial neoplasia10.2
36hyperparathyroidism, familial primary10.2CDC73, MEN1
37central nervous system organ benign neoplasm10.1CDC73, MEN1
38leukodystrophy10.1CASR, CDC73
39central hypoventilation syndrome, congenital10.0MEN1, RET
40myopathy with deficiency of iron-sulfur cluster assembly enzyme10.0MEN1, RET
41qazi markouizos syndrome10.0MEN1, RET
42nephrocalcinosis10.0CASR, CDC73
43steroid inherited metabolic disorder10.0MEN1, RET
44medullary thyroid carcinoma, familial9.9MEN1, RET
45autosomal recessive disease9.9MEN1, RET
46frontotemporal dementia and/or amyotrophic lateral sclerosis 49.8MEN1, RET
47multiple endocrine neoplasia iib9.8CDC73, MEN1, RET
48chorea, hereditary benign9.6CCND1, RET
49von hippel-lindau syndrome9.5CCND1, MEN1, RET
50primary hyperparathyroidism9.5CASR, CDC73, MEN1, RET

Graphical network of the top 20 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 recurrent pancreatitis HP:0100027
2 hamartoma HP:0010566
3 hurthle cell thyroid adenoma HP:0006781
4 parathyroid carcinoma HP:0006780
5 papillary renal cell carcinoma HP:0006766
6 renal cortical adenoma HP:0006735
7 pancreatic adenocarcinoma HP:0006725
8 hypercalcemia HP:0003072
9 parathyroid adenoma HP:0002897
10 nephroblastoma (wilms tumor) HP:0002667
11 hyperparathyroidism HP:0000843
12 nephrolithiasis HP:0000787
13 abnormality of the head HP:0000234
14 polycystic kidney dysplasia HP:0000113

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-Jaw Tumor Syndrome22 CDC73

Anatomical Context for Hyperparathyroidism-Jaw Tumor Syndrome

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

33
Kidney, Bone, Uterus, Thyroid, Brain, Thymus, Colon

Animal Models for Hyperparathyroidism-Jaw Tumor Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Hyperparathyroidism-Jaw Tumor Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.2CASR, CDC73, MEN1, RET
2MP:00053797.9CASR, CCND1, CDC73, MEN1, RET
3MP:00053817.7CASR, CCND1, CDC73, MEN1, RET
4MP:00053847.6CASR, CCND1, CDC73, MEN1, RET
5MP:00053877.6CASR, CCND1, CDC73, MEN1, RET

Publications for Hyperparathyroidism-Jaw Tumor Syndrome

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Articles related to Hyperparathyroidism-Jaw Tumor Syndrome:

(show all 34)
idTitleAuthorsYear
1
Use of TachoSilAr to Prevent Symptomatic Lymphocele after an Aggressive Tumor Debulking with Lymphadenectomy for Advanced Stage Ovarian Cancer. A Pilot Study. (27046053)
2016
2
Public awareness of melioidosis in Thailand and potential use of video clips as educational tools. (25803048)
2015
3
The role of hematopoietic stem cell transplantation for relapsed and refractory Hodgkin Lymphoma. (25382792)
2014
4
Translational approaches for pharmacotherapy development for acute diarrhea. (22266149)
2012
5
Atypical presentation of tuberous sclerosis and obsessive compulsive disorder in an adult male. (22566737)
2012
6
The role of demyelination in neuromyelitis optica damage: diffusion-tensor MR imaging study. (22438446)
2012
7
Young woman with thymoma metastatic to the brain controlled with gross total resection and stereotactic radiosurgery, with a subsequent uncomplicated pregnancy. (20940185)
2011
8
The scaffold protein Shoc2/SUR-8 accelerates the interaction of Ras and Raf. (20051520)
2010
9
Expression of human cathepsin L or human cathepsin V in mouse thymus mediates positive selection of T helper cells in cathepsin L knock-out mice. (20347002)
2010
10
Prognostic biomarkers for esophageal adenocarcinoma identified by analysis of tumor transcriptome. (21152079)
2010
11
Pentalogy of Cantrell : successful early correction. (17885784)
2008
12
Immunobiology of the TAM receptors. (18421305)
2008
13
Tumor-targeting nanocomplex delivery of novel tumor suppressor RB94 chemosensitizes bladder carcinoma cells in vitro and in vivo. (18381961)
2008
14
A comparative study between honey and povidone iodine as dressing solution for Wagner type II diabetic foot ulcers. (18935732)
2008
15
Extended right trisegmentectomy using in situ hypothermic perfusion with modified HTK solution for a large intrahepatic cholangiocarcinoma. (17226825)
2007
16
MYC activation associated with the integration of HPV DNA at the MYC locus in genital tumors. (16682952)
2006
17
Rules for nuclear localization sequence recognition by karyopherin beta 2. (16901787)
2006
18
Role of superoxide dismutase in vascular inflammation and in coronary artery disease. (16820996)
2006
19
Thymidylate synthase gene polymorphism as a prognostic factor for colon cancer. (15749593)
2005
20
Stimulation of transforming activity of DJ-1 by Abstrakt, a DJ-1-binding protein. (15703824)
2005
21
Polymorphism of quinone-metabolizing enzymes and susceptibility to ozone-induced acute effects. (11371413)
2001
22
Surfactant protein A (SP-A)-mediated bacterial clearance: SP-A and cystic fibrosis. (11726390)
2001
23
Activation of the IkappaB kinase complex by TRAF6 requires a dimeric ubiquitin-conjugating enzyme complex and a unique polyubiquitin chain. (11057907)
2000
24
Cold injury in 2 patients with connective tissue disease--frostbite arthritis plus. (11036861)
2000
25
Protein-damaging stresses activate c-Jun N-terminal kinase via inhibition of its dephosphorylation: a novel pathway controlled by HSP72. (10082520)
1999
26
Prolonged benefit following ultraviolet A phototherapy for solar urticaria. (9274644)
1997
27
Johanson-Blizzard syndrome facial anomaly and its correction using a microsurgical bone graft and tripartite osteotomy. (9020718)
1995
28
Interleukin-6: a sensitive parameter for the early diagnosis of neonatal bacterial infection. (8265324)
1994
29
Infantile histiocytoid cardiomyopathy--myocardial or conduction system hamartoma: what is the cell type involved? (8244322)
1993
30
Effectiveness of using recombinant interferon alfa2 (reaferon) combined with antioxidants in children with acute hepatitis B]. (1614804)
1992
31
Insulin secretion and insulin resistance in pregnancy and GDM. Implications for diagnosis and management. (1748255)
1991
32
Antithrombin activity of a peptide corresponding to residues 54-75 of heparin cofactor II. (2760054)
1989
33
Adult onset Still's disease or coxsackie polyarthritis? (3039956)
1987
34
Two factors in the differentiation of rheumatic and non-rheumatic types of Sydenham's chorea; a study of 97 cases. (18151062)
1949

Variations for Hyperparathyroidism-Jaw Tumor Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Hyperparathyroidism-Jaw Tumor Syndrome:

67
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

Cosmic variations for Hyperparathyroidism-Jaw Tumor Syndrome:

7
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
1COSM24747CTNNB1bone,mandible,carcinoma,NS3
2COSM24747CTNNB1bone,mandible,carcinoma,NS3
3COSM5673CTNNB1bone,maxilla,carcinoma,NS3
4COSM5673CTNNB1bone,maxilla,carcinoma,NS3

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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Cellular components related to Hyperparathyroidism-Jaw Tumor Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1neuronal cell bodyGO:00430259.3CASR, RET

Biological processes related to Hyperparathyroidism-Jaw Tumor Syndrome according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1beta-catenin-TCF complex assemblyGO:19048379.9CDC73, MEN1
2cellular response to glucose stimulusGO:00713339.7CASR, MEN1
3DNA repairGO:00062819.4MEN1, POLR2L
4response to calcium ionGO:00515929.4CASR, CCND1
5response to organic cyclic compoundGO:00140709.1CASR, CCND1
6Wnt signaling pathwayGO:00160558.9CCND1, CDC73
7negative regulation of transcription from RNA polymerase II promoterGO:00001228.9CCND1, CDC73, MEN1

Sources for Hyperparathyroidism-Jaw Tumor Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet