HRPT3
MCID: HYP311
MIFTS: 17

Hyperparathyroidism 3 (HRPT3)

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

Aliases & Classifications for Hyperparathyroidism 3

MalaCards integrated aliases for Hyperparathyroidism 3:

Name: Hyperparathyroidism 3 57 13 70
Familial Hyperparathyroidism 70
Hyperparathyroidism 1 70
Hrpt3 57

Classifications:



External Ids:

OMIM® 57 610071
OMIM Phenotypic Series 57 PS145000
MedGen 41 C1864729
UMLS 70 C0271846 C1840402 C1864729

Summaries for Hyperparathyroidism 3

MalaCards based summary : Hyperparathyroidism 3, also known as familial hyperparathyroidism, is related to hyperparathyroidism 1 and rickets. An important gene associated with Hyperparathyroidism 3 is HRPT3 (Hyperparathyroidism 3).

More information from OMIM: 610071 PS145000

Related Diseases for Hyperparathyroidism 3

Diseases in the Hyperparathyroidism family:

Hyperparathyroidism 1 Hyperparathyroidism 3
Hyperparathyroidism 4 Primary Hyperparathyroidism
Secondary Hyperparathyroidism Rare Hyperparathyroidism

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

# Related Disease Score Top Affiliating Genes
1 hyperparathyroidism 1 11.1
2 rickets 9.8
3 hyperparathyroidism 9.8
4 hyperthyroidism 9.8
5 hypotonia 9.8

Graphical network of the top 20 diseases related to Hyperparathyroidism 3:



Diseases related to Hyperparathyroidism 3

Symptoms & Phenotypes for Hyperparathyroidism 3

Clinical features from OMIM®:

610071 (Updated 20-May-2021)

Drugs & Therapeutics for Hyperparathyroidism 3

Search Clinical Trials , NIH Clinical Center for Hyperparathyroidism 3

Genetic Tests for Hyperparathyroidism 3

Anatomical Context for Hyperparathyroidism 3

Publications for Hyperparathyroidism 3

Articles related to Hyperparathyroidism 3:

(show all 33)
# Title Authors PMID Year
1
Familial isolated hyperparathyroidism is linked to a 1.7 Mb region on chromosome 2p13.3-14. 57
16525030 2006
2
Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications. 57
14985373 2004
3
Parathyroid adenoma in a young female presenting as recurrent acute pancreatitis with a brown tumour of the mandible-A case study. 61
25574767 2015
4
Predictors of tertiary hyperparathyroidism: Who will benefit from parathyroidectomy? 61
25456966 2014
5
Near total parathyroidectomy is effective therapy for tertiary hyperparathyroidism. 61
24987894 2014
6
Current management of the Zollinger-Ellison syndrome. 61
24298844 2013
7
Protocol-based metabolic evaluation in high-risk patients with renal stones in North India. 61
22470869 2012
8
Cardiovascular events in chronic dialysis patients: emphasizing the importance of vascular disease prevention. 61
20574691 2010
9
Tertiary hyperparathyroidism: is less than a subtotal resection ever appropriate? A study of long-term outcomes. 61
19958940 2009
10
Pseudoclubbing: is it different from clubbing? 61
18378280 2009
11
[The incidence of tertiary hyperparathyroidism after renal transplantation]. 61
18282456 2008
12
Primary hyperparathyroidism and osteosarcoma: examination of a large cohort identifies three cases of fibroblastic osteosarcoma. 61
16059628 2005
13
[Results of bone scintigraphy, densitometry and radiography in secondary hyperparathyroidism in patients with chronic renal failure]. 61
12879775 2003
14
10 Swiss kindreds with multiple endocrine neoplasia type 1: assessment of screening methods. 61
11524904 2001
15
TGF-beta isoform and receptor expression in giant cell tumor and giant cell lesions of bone. 61
11396635 2001
16
Relative contributions of technetium Tc 99m sestamibi scintigraphy, intraoperative gamma probe detection, and the rapid parathyroid hormone assay to the surgical management of hyperparathyroidism. 61
10807279 2000
17
Parathyroid function after successful renal transplantation. 61
9429326 1997
18
'Pulse oral' versus intravenous calcitriol therapy in chronic hemodialysis patients. A prospective and randomized study. 61
9375818 1997
19
Renal bone disease in pediatric and young adult patients on hemodialysis in a children's hospital. 61
8338926 1993
20
[Re-evaluation of ultrasonographic localization in primary hyperparathyroidism (report of 55 cases)]. 61
1363900 1992
21
Primary hyperparathyroidism or hypercalcaemia of malignancy? 61
1439519 1992
22
Diagnosis and management of asymptomatic hyperparathyroidism: safety, efficacy, and deficiencies in our knowledge. 61
1763665 1991
23
Oral calcium load test: diagnostic and physiologic implications in hyperparathyroidism. 61
2174192 1990
24
Plasma osteocalcin levels in stone disease. A potential aid in the differential diagnosis of calcium nephrolithiasis. 61
2826825 1988
25
[Congenital hyperparathyroidism. 3 cases]. 61
3813273 1986
26
[Urinary excretion of hydroxyproline in parathyroid disorders, with special reference to its changes before and after parathyroidectomy in primary hyperparathyroidism]. 61
6685063 1983
27
Secondary hyperparathyroidism in patients on maintenance hemodialysis: study of optimal hemopurification and parathyroidectomy. 61
6670109 1983
28
Shoulder arthropathy in primary hyperparathyroidism. 61
7163829 1982
29
Parathyrin measured concurrently with free or total calcium in the differential diagnosis of hypercalcemia. 61
7471425 1981
30
Hypoparathyroidism during pregnancy: treatment with calcitriol. 61
6894151 1981
31
[Determination of plasma parathyroid hormone in the differential diagnosis of hypercalcemias associated with malignant tumors]. 61
663597 1978
32
Parathyroid hormone-like biological activity in urine. 61
639465 1978
33
The direct effect of calcium on the hyperparathyroidism of chronic renal failure. 61
1192706 1975

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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