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

Aliases & Descriptions for Hyperparathyroidism-Jaw Tumor Syndrome:

Name: Hyperparathyroidism-Jaw Tumor Syndrome 54 50 24 25 56 66 13 69
Hpt-Jt 50 24 25 56 66
Hyperparathyroidism 2 54 50 25 29
Familial Primary Hyperparathyroidism with Multiple Ossifying Jaw Fibromas 50 25 66
Hrpt2 50 66 52
Hereditary Hyperparathyroidism-Jaw Tumor Syndrome 50 25
Parathyroid Adenomatosis, Familial Cystic 69
Familial Cystic Parathyroid Adenomatosis 25
Parathyroid Adenoma with Cystic Changes 54
Hyperparathyroidism Jaw Tumor Syndrome 24
Hyperparathyroidism 2 with Jaw Tumors 66

Characteristics:

Orphanet epidemiological data:

56
hyperparathyroidism-jaw tumor syndrome
Age of onset: Adolescent,Adult;

HPO:

32
hyperparathyroidism-jaw tumor syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 145001
Orphanet 56 ORPHA99880
ICD10 via Orphanet 34 E21.0
MedGen 40 C1704981
MeSH 42 D049950

Summaries for Hyperparathyroidism-Jaw Tumor Syndrome

NIH Rare Diseases : 50 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 constipation, fatigue and headache. An important gene associated with Hyperparathyroidism-Jaw Tumor Syndrome is CDC73 (Cell Division Cycle 73), and among its related pathways/superpathways are Signaling by GPCR and Thyroid cancer. The drug Formaldehyde has been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and uterus, and related phenotypes are cellular and digestive/alimentary

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 : 66 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: 145001

Related Diseases for Hyperparathyroidism-Jaw Tumor Syndrome

Diseases related to Hyperparathyroidism-Jaw Tumor Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
id Related Disease Score Top Affiliating Genes
1 parathyroid carcinoma 29.6 CASR CDC73 MEN1 RET
2 hyperparathyroidism 3 10.9
3 hyperparathyroidism 10.7
4 restless legs syndrome 7 10.1 CDC73 MEN1
5 familial chronic myelocytic leukemia-like syndrome 10.1 CASR CDC73
6 immune system organ benign neoplasm 10.1 CDC73 MEN1
7 early-onset parkinson disease 10.0 MEN1 RET
8 hirschsprung disease 1 10.0 MEN1 RET
9 cowden syndrome 3 10.0 MEN1 RET
10 aneurysm 10.0 MEN1 RET
11 neutropenia, severe congenital, 5, autosomal recessive 9.9 MEN1 RET
12 endocrine gland cancer 9.9 MEN1 RET
13 neuroretinitis 9.9 CCND1 MEN1
14 caroli disease 9.9 CCND1 CDC73
15 t-cell large granular lymphocyte leukemia 9.9 MEN1 RET
16 central hypoventilation syndrome, congenital 9.9 CDC73 MEN1 RET
17 fibroma 9.9
18 ossifying fibroma 9.9
19 osteitis fibrosa 9.9
20 benign shuddering attacks 9.8 MEN1 RET
21 bladder colonic type adenocarcinoma 9.8 CCND1 CDC73 MEN1
22 erythrocytosis, familial, 2 9.7 CCND1 MEN1 RET
23 opioid abuse 9.7 CASR CDC73 MEN1 RET
24 leukemia, acute promyelocytic, somatic 9.7 CASR CDC73 MEN1 RET
25 subserous uterine fibroid 9.7 CASR CDC73 MEN1 RET
26 epidermolysis bullosa, junctional, herlitz type 9.6 CASR CCND1 CDC73 MEN1
27 vestibular gland benign neoplasm 9.6 CCND1 CDC73 MEN1 RET
28 cowper gland carcinoma 9.4 CASR CCND1 CDC73 MEN1 RET
29 hyperparathyroidism, familial primary 9.2 CASR CCND1 CDC73 MEN1 POLR2L RET

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

Symptoms by clinical synopsis from OMIM:

145001

Clinical features from OMIM:

145001

Human phenotypes related to Hyperparathyroidism-Jaw Tumor Syndrome:

56 32 (show all 44)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 constipation 56 32 Occasional (29-5%) HP:0002019
2 fatigue 56 32 Frequent (79-30%) HP:0012378
3 headache 56 32 Occasional (29-5%) HP:0002315
4 nausea and vomiting 56 32 Occasional (29-5%) HP:0002017
5 muscle weakness 56 32 Occasional (29-5%) HP:0001324
6 polydipsia 56 32 Frequent (79-30%) HP:0001959
7 bone pain 56 32 Occasional (29-5%) HP:0002653
8 dysphagia 56 32 Frequent (79-30%) HP:0002015
9 renal insufficiency 56 32 Occasional (29-5%) HP:0000083
10 hypophosphatemia 56 32 Very frequent (99-80%) HP:0002148
11 osteoporosis 56 32 Frequent (79-30%) HP:0000939
12 pancreatitis 56 32 Occasional (29-5%) HP:0001733
13 hypercalciuria 56 32 Very frequent (99-80%) HP:0002150
14 fibroma 56 32 Frequent (79-30%) HP:0010614
15 nephrocalcinosis 56 32 Frequent (79-30%) HP:0000121
16 nephrolithiasis 56 32 Frequent (79-30%) HP:0000787
17 parathyroid adenoma 56 32 Obligate (100%) HP:0002897
18 hypercalcemia 56 32 Obligate (100%) HP:0003072
19 elevated circulating parathyroid hormone level 56 32 Very frequent (99-80%) HP:0003165
20 episodic abdominal pain 56 32 Occasional (29-5%) HP:0002574
21 peptic ulcer 56 32 Occasional (29-5%) HP:0004398
22 pancreatic adenocarcinoma 56 32 Very rare (<4-1%) HP:0006725
23 lipoma 56 32 Very rare (<4-1%) HP:0012032
24 testicular neoplasm 56 32 Very rare (<4-1%) HP:0010788
25 chondrocalcinosis 56 32 Occasional (29-5%) HP:0000934
26 nephroblastoma 56 32 Very rare (<4-1%) HP:0002667
27 thyroid carcinoma 56 32 Very rare (<4-1%) HP:0002890
28 renal cyst 56 32 Occasional (29-5%) HP:0000107
29 uterine leiomyoma 56 32 Frequent (79-30%) HP:0000131
30 infantile hypercalcemia 56 32 Frequent (79-30%) HP:0008250
31 primary hyperparathyroidism 56 32 Obligate (100%) HP:0008200
32 shortened qt interval 56 32 Frequent (79-30%) HP:0012232
33 renal hamartoma 56 32 Occasional (29-5%) HP:0008696
34 mandibular pain 56 32 Occasional (29-5%) HP:0200025
35 polycystic kidney dysplasia 32 HP:0000113
36 hyperparathyroidism 32 HP:0000843
37 hamartoma 32 HP:0010566
38 recurrent pancreatitis 32 HP:0100027
39 parathyroid carcinoma 32 HP:0006780
40 abnormality of the head 32 HP:0000234
41 renal cortical adenoma 32 HP:0006735
42 papillary renal cell carcinoma 32 HP:0006766
43 abnormality of the parathyroid morphology 56 Very frequent (99-80%)
44 hurthle cell thyroid adenoma 32 HP:0006781

MGI Mouse Phenotypes related to Hyperparathyroidism-Jaw Tumor Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.72 CASR CCND1 CDC73 MEN1 RET
2 digestive/alimentary MP:0005381 9.65 CASR CCND1 CDC73 MEN1 RET
3 endocrine/exocrine gland MP:0005379 9.55 CASR CCND1 CDC73 MEN1 RET
4 immune system MP:0005387 9.35 RET CASR CCND1 CDC73 MEN1
5 muscle MP:0005369 8.92 CASR CDC73 MEN1 RET

Drugs & Therapeutics for Hyperparathyroidism-Jaw Tumor Syndrome

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Formaldehyde Approved, Vet_approved 50-00-0 712

Interventional clinical trials:


id Name Status NCT ID Phase
1 Gene Expression in Hyperparathyroidism Recruiting NCT03044600

Search NIH Clinical Center for Hyperparathyroidism-Jaw Tumor Syndrome

Genetic Tests for Hyperparathyroidism-Jaw Tumor Syndrome

Genetic tests related to Hyperparathyroidism-Jaw Tumor Syndrome:

id Genetic test Affiliating Genes
1 Hyperparathyroidism 2 29
2 Hyperparathyroidism-Jaw Tumor Syndrome 24 CDC73

Anatomical Context for Hyperparathyroidism-Jaw Tumor Syndrome

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

39
Kidney, Bone, Uterus, Thyroid

Publications for Hyperparathyroidism-Jaw Tumor Syndrome

Articles related to Hyperparathyroidism-Jaw Tumor Syndrome:

(show all 37)
id Title Authors Year
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

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

66
id Symbol AA change Variation ID SNP ID
1 CDC73 p.Asp379Asn VAR_064936

ClinVar genetic disease variations for Hyperparathyroidism-Jaw Tumor Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CDC73 NM_024529.4(CDC73): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs28942098 GRCh37 Chromosome 1, 193091333: 193091333
2 CDC73 NM_024529.4(CDC73): c.25C> T (p.Arg9Ter) single nucleotide variant Pathogenic rs121434262 GRCh37 Chromosome 1, 193091355: 193091355
3 CDC73 CDC73, 41-BP DUP/INS duplication Pathogenic
4 CDC73 NM_024529.4(CDC73): c.679_680insAG (p.Arg227Lysfs) insertion Pathogenic rs80356649 GRCh37 Chromosome 1, 193111146: 193111147
5 CDC73 CDC73, 2-BP DEL deletion Pathogenic
6 CDC73 NM_024529.4(CDC73): c.238-1G> A single nucleotide variant Pathogenic rs587776559 GRCh37 Chromosome 1, 193099303: 193099303
7 CDC73 NM_024529.4(CDC73): c.237+1G> T single nucleotide variant Pathogenic rs794727303 GRCh37 Chromosome 1, 193094348: 193094348

Expression for Hyperparathyroidism-Jaw Tumor Syndrome

Search GEO for disease gene expression data for Hyperparathyroidism-Jaw Tumor Syndrome.

Pathways for Hyperparathyroidism-Jaw Tumor Syndrome

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.13 CASR CCND1 CDC73 MEN1 POLR2L RET
2 10.09 CCND1 RET

GO Terms for Hyperparathyroidism-Jaw Tumor Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 transcription elongation from RNA polymerase II promoter GO:0006368 9.32 CDC73 POLR2L
2 response to calcium ion GO:0051592 9.26 CASR CCND1
3 negative regulation of epithelial cell proliferation GO:0050680 9.16 CDC73 MEN1
4 cellular response to glucose stimulus GO:0071333 8.96 CASR MEN1
5 beta-catenin-TCF complex assembly GO:1904837 8.62 CDC73 MEN1

Sources for Hyperparathyroidism-Jaw Tumor Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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