HRPT3
MCID: HYP311
MIFTS: 25

Hyperparathyroidism 3 (HRPT3)

Categories: Bone diseases, Cancer diseases, Endocrine diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Hyperparathyroidism 3

MalaCards integrated aliases for Hyperparathyroidism 3:

Name: Hyperparathyroidism 3 58 13 74
Familial Hyperparathyroidism 74
Hyperparathyroidism 1 74
Hrpt3 58

Classifications:



External Ids:

OMIM 58 610071
MedGen 43 C1864729

Summaries for Hyperparathyroidism 3

MalaCards based summary : Hyperparathyroidism 3, also known as familial hyperparathyroidism, is related to hyperparathyroidism and hyperparathyroidism 1. An important gene associated with Hyperparathyroidism 3 is HRPT3 (Hyperparathyroidism 3). The drugs Parathyroid hormone and Cinacalcet have been mentioned in the context of this disorder. Affiliated tissues include colon and testes.

Description from OMIM: 610071

Related Diseases for Hyperparathyroidism 3

Diseases in the Hyperparathyroidism family:

Hyperparathyroidism 1 Hyperparathyroidism 3
Hyperparathyroidism 4 Primary Hyperparathyroidism
Secondary Hyperparathyroidism

Diseases related to Hyperparathyroidism 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hyperparathyroidism 11.3
2 hyperparathyroidism 1 11.1

Symptoms & Phenotypes for Hyperparathyroidism 3

Clinical features from OMIM:

610071

Drugs & Therapeutics for Hyperparathyroidism 3

Drugs for Hyperparathyroidism 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Parathyroid hormone Approved, Investigational Phase 3 9002-64-6
2
Cinacalcet Approved Phase 3 226256-56-0 156419
3
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
4 Hormones Phase 3
5 Hormone Antagonists Phase 3
6 Calcium, Dietary Phase 3
7 Calcimimetic Agents Phase 3
8 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Cinacalcet to Treat Familial Primary Hyperparathyroidism Completed NCT00325104 Phase 3
2 Studies of Inherited Diseases of Metabolism Recruiting NCT00001345

Search NIH Clinical Center for Hyperparathyroidism 3

Genetic Tests for Hyperparathyroidism 3

Anatomical Context for Hyperparathyroidism 3

MalaCards organs/tissues related to Hyperparathyroidism 3:

42
Colon, Testes

Publications for Hyperparathyroidism 3

Articles related to Hyperparathyroidism 3:

(show all 45)
# Title Authors Year
1
Management of familial hyperparathyroidism syndromes: MEN1, MEN2, MEN4, HPT-Jaw tumour, Familial isolated hyperparathyroidism, FHH, and neonatal severe hyperparathyroidism. ( 30665551 )
2018
2
Correction: Familial Hyperparathyroidism - Disorders of Growth and Secretion in Hormone-Secretory Tissue. ( 29879737 )
2017
3
Familial Hyperparathyroidism - Disorders of Growth and Secretion in Hormone-Secretory Tissue. ( 29136674 )
2017
4
An adolescent case of familial hyperparathyroidism with a germline frameshift mutation of the CDC73 gene. ( 26568659 )
2015
5
Missense mutation in the MEN1 gene discovered through whole exome sequencing co-segregates with familial hyperparathyroidism. ( 24074368 )
2013
6
Aromatase inhibitor treatment ofA menorrhagia and subsequent pregnancy in a patient with familial hyperparathyroidism-jaw tumor syndrome. ( 22963808 )
2012
7
Familial hyperparathyroidism due to a germline mutation of the CDC73 gene: implications for management and age-appropriate testing of relatives at risk. ( 21324824 )
2011
8
Surgical therapy for familial hyperparathyroidism. ( 19655601 )
2009
9
Familial hyperparathyroidism: surgical outcome after 30 years of follow-up in three families with germline HRPT2 mutations. ( 18436011 )
2008
10
Clinical, genetic, and histopathologic investigation of CDC73-related familial hyperparathyroidism. ( 18755853 )
2008
11
Re: Familial hyperparathyroidism: surgical outcome after 30 years of follow-up in three families with germline HRPT2 mutations. ( 19081034 )
2008
12
Radioguided parathyroidectomy in patients with familial hyperparathyroidism. ( 17122990 )
2007
13
Surgical management of familial hyperparathyroidism. ( 17285397 )
2007
14
Surgical approach to the patient with familial hyperparathyroidism. ( 16916493 )
2006
15
Isolated familial hyperparathyroidism with a novel mutation of the MEN1 gene. ( 11421544 )
2000
16
Familial hyperparathyroidism. ( 10914986 )
2000
17
Familial hyperparathyroidism: report of a case. ( 9934834 )
1999
18
Novel V184E MEN1 germline mutation in a Japanese kindred with familial hyperparathyroidism. ( 9843042 )
1998
19
Familial hyperparathyroidism without multiple endocrine neoplasia. ( 8943173 )
1997
20
Is familial hyperparathyroidism a unique disease? ( 9426416 )
1997
21
Familial hyperparathyroidism associated with jaw fibroma: case report and literature review. ( 7554319 )
1995
22
Self-limited neonatal familial hyperparathyroidism associated with hypercalciuria and renal tubular acidosis in three siblings. ( 2167460 )
1990
23
Familial hyperparathyroidism in association with colonic carcinoma. ( 3594382 )
1987
24
Familial hyperparathyroidism associated with cementifying fibromas of the jaws in two siblings. ( 3856818 )
1985
25
Lindau's disease and familial hyperparathyroidism. ( 6539508 )
1984
26
Autosomal recessive inheritance of familial hyperparathyroidism. ( 6888431 )
1983
27
Familial hyperparathyroidism caused by solitary adenomas. ( 7112400 )
1982
28
Familial hyperparathyroidism. ( 7377835 )
1980
29
Multiple endocrine adenomatosis (Type I) and familial hyperparathyroidism. ( 24836 )
1978
30
Parathyroid carcinoma in familial hyperparathyroidism. ( 412876 )
1977
31
Familial hyperparathyroidism. ( 984613 )
1976
32
Familial hyperparathyroidism. Description of a large kindred with physiologic observations and a review of the literature. ( 1244790 )
1976
33
Parathyroid carcinoma in familial hyperparathyroidism. ( 4372885 )
1974
34
Familial hyperparathyroidism. ( 4135089 )
1974
35
Familial hyperparathyroidism. Mild hypercalcemia in at least nine members of a kindred. ( 4144405 )
1973
36
Familial hyperparathyroidism. ( 5090827 )
1971
37
Familial hyperparathyroidism. ( 5145323 )
1971
38
Jaw lesions in familial hyperparathyroidism. ( 5279024 )
1971
39
Familial hyperparathyroidism (report of three cases). ( 5263029 )
1970
40
Myopathy in primary familial hyperparathyroidism. Clinical and morphologic studies. ( 5420555 )
1970
41
Psychiatric illness in a large family with familial hyperparathyroidism. ( 5492180 )
1970
42
Familial hyperparathyroidism. Medical and surgical considerations. ( 5694438 )
1968
43
Familial hyperparathyroidism. ( 6021148 )
1967
44
Familial hyperparathyroidism. ( 5938607 )
1966
45
FAMILIAL HYPERPARATHYROIDISM. A KINDRED INVOLVING ELEVEN CASES, WITH A DISCUSSION OF PRIMARY CHIEF-CELL HYPERPLASIA. ( 14110030 )
1964

Variations for Hyperparathyroidism 3

Expression for Hyperparathyroidism 3

Search GEO for disease gene expression data for Hyperparathyroidism 3.

Pathways for Hyperparathyroidism 3

GO Terms for Hyperparathyroidism 3

Sources for Hyperparathyroidism 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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