HRPT3
MCID: HYP311
MIFTS: 26

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 57 13 73
Familial Hyperparathyroidism 73
Hyperparathyroidism 1 73
Hrpt3 57

Classifications:



External Ids:

OMIM 57 610071
MedGen 42 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). Affiliated tissues include bone, kidney and colon.

Description from OMIM: 610071

Related Diseases for Hyperparathyroidism 3

Diseases in the Hyperparathyroidism family:

Hyperparathyroidism 1 Hyperparathyroidism 3
Hyperparathyroidism 4 Primary Hyperparathyroidism

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

# Related Disease Score Top Affiliating Genes
1 hyperparathyroidism 11.2
2 hyperparathyroidism 1 11.1

Symptoms & Phenotypes for Hyperparathyroidism 3

Clinical features from OMIM:

610071

Drugs & Therapeutics for Hyperparathyroidism 3

Search Clinical Trials , NIH Clinical Center for Hyperparathyroidism 3

Genetic Tests for Hyperparathyroidism 3

Anatomical Context for Hyperparathyroidism 3

MalaCards organs/tissues related to Hyperparathyroidism 3:

41
Bone, Kidney, Colon, Testes

Publications for Hyperparathyroidism 3

Articles related to Hyperparathyroidism 3:

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