MCID: PRM005
MIFTS: 58

Primary Hyperparathyroidism malady

Genetic diseases, Rare diseases, Endocrine diseases, Cancer diseases categories

Summaries for Primary Hyperparathyroidism

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NIH Rare Diseases:41 Hyperparathyroidism is an endocrine disorder in which the parathyroid glands in the neck produce too much parathyroid hormone (pth). signs and symptoms are often mild and nonspecific, such as a feeling of weakness and fatigue, depression, or aches and pains. with more severe disease, a person may have a loss of appetite, nausea, vomiting, constipation, confusion or impaired thinking and memory, and increased thirst and urination. patients may have thinning of the bones without symptoms, but with risk of fractures. there are two main types of hyperparathyroidism: primary hyperparathyroidism and secondary hyperparathyroidism. surgery to remove the parathyroid gland(s) is the main treatment for the disorder. some patients with mild disease do not require treatment. last updated: 4/2/2012

MalaCards based summary: Primary Hyperparathyroidism, also known as hypercalcemia, familial benign, is related to hyperparathyroidism and parathyroid adenoma. An important gene associated with Primary Hyperparathyroidism is CASR (calcium-sensing receptor), and among its related pathways are Development Hedgehog and PTH signaling pathways in bone and cartilage development and Transcription Role of VDR in regulation of genes involved in osteoporosis. The drugs sodium iodide and sodium iodide i123 and the compounds cinacalcet and gadolinium have been mentioned in the context of this disorder. Affiliated tissues include bone, thyroid and kidney, and related mouse phenotypes are endocrine/exocrine gland and homeostasis/metabolism.

Wikipedia:63 Primary hyperparathyroidism is usually caused by a tumor within the parathyroid gland. The symptoms of... more...

Aliases & Classifications for Primary Hyperparathyroidism

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Primary Hyperparathyroidism, Aliases & Descriptions:

Name: Primary Hyperparathyroidism 9
Hypercalcemia, Familial Benign 43 22
Familial Benign Hypercalcemia 9 60
Hyperparathyroidism, Primary 41 60
Hypocalciuric Hypercalcemia, Familial, Type 1 60
 
Familial Primary Hyperparathyroidism 9
Familial Hyperparathyroidism 60
Hyperparathyroidism Primary 43
Primary Hyperthyroidism 41
Hyperthyroidism 60


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Cancer diseases
Anatomical: Endocrine diseases


External Ids:

Disease Ontology9 DOID:11202
ICD9CM27 252.01
MeSH33 D049950
NCIt38 C48280
ICD1025 E21.0, E21.3

Related Diseases for Primary Hyperparathyroidism

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Diseases in the Hyperparathyroidism family:

Hyperparathyroidism 3 Hyperparathyroidism, Familial Primary
primary hyperparathyroidism

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

(show top 50)    (show all 178)
idRelated DiseaseScoreTop Affiliating Genes
1hyperparathyroidism32.0PTH, NR1I3, CASR, MEN1, BGLAP
2parathyroid adenoma31.7CASR, MEN1, PTH
3parathyroid carcinoma31.3MEN1, CASR, PTH
4adenoma31.3CASR, MEN1, NR1I3, PTH, GCM2
5goiter31.2PTH, BGLAP
6osteitis fibrosa31.2PTH, CASR, BGLAP
7hyperparathyroidism, neonatal31.1CASR, NR1I3
8hypercalcemia31.1MEN1, CASR, BGLAP, PTH, NR1I3
9osteoporosis31.0BGLAP, PTH
10hyperparathyroidism-jaw tumor syndrome31.0CASR, MEN1
11osteomalacia31.0PTH, CASR, BGLAP
12nephrocalcinosis30.9NR1I3, CASR
13hyperthyroidism30.8PTH, BGLAP
14calcinosis30.7PTH, CASR
15pseudohypoparathyroidism30.6PTH, BGLAP
16pancreatitis30.6CTRC, CASR, PRSS2
17rickets30.6PTH, BGLAP
18acromegaly30.5BGLAP, MEN1
19insulinoma30.5MEN1, CASR
20hypophosphatemia30.4PTH, BGLAP
21nephrolithiasis30.3SLC26A6, PTH, CASR, NR1I3
22parathyroid gland disease30.3MEN1, CASR, PTH
23metabolic acidosis30.3PTH, BGLAP
24renal osteodystrophy30.3BGLAP, PTH, CASR
25uremia30.1PTH, CASR, MEN1, NR1I3
26hypothyroidism30.1CASR, PTH
27hypoparathyroidism30.0GCM2, BGLAP, PTH, CASR, NR1I3
28multiple endocrine neoplasia10.8
29thyroiditis10.7
30familial hypocalciuric hypercalcemia10.7
31pheochromocytoma10.5
32hyperparathyroidism, familial primary10.4
33thyroid cancer10.4
34osteonecrosis10.4BGLAP
35multinodular goiter10.4
36endotheliitis10.4
37acute pancreatitis10.4
38calciphylaxis10.4
39hyperphosphatemia10.3PTH, CASR
40multiple endocrine neoplasia iia10.3MEN1, PTH
41gastrinoma10.3CASR, MEN1
42hypoparathyroidism, familial isolated10.3PTH, GCM2
43neurofibromatosis10.3
44hyperaldosteronism10.3
45medullary thyroid carcinoma, familial10.3CASR, MEN1
46pseudohypoparathyroidism, type ib10.3PTH, BGLAP
47hyperostosis, endosteal10.3SOST, PTH
48breast cancer10.2
49celiac disease10.2
50multiple myeloma10.2

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



Diseases related to primary hyperparathyroidism

Symptoms for Primary Hyperparathyroidism

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Drugs & Therapeutics for Primary Hyperparathyroidism

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Drug clinical trials:

Search ClinicalTrials for Primary Hyperparathyroidism

Search NIH Clinical Center for Primary Hyperparathyroidism

Inferred drug relations via UMLS60/NDF-RT39:

Genetic Tests for Primary Hyperparathyroidism

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Genetic tests related to Primary Hyperparathyroidism:

id Genetic test Affiliating Genes
1 Familial Benign Hypercalcemia22

Anatomical Context for Primary Hyperparathyroidism

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MalaCards organs/tissues related to Primary Hyperparathyroidism:

31
Bone, Thyroid, Kidney, Testes, Endothelial, Breast, Pituitary, Bone marrow, Thymus, Colon, Liver, Lung, Pancreatic islet

Animal Models for Primary Hyperparathyroidism or affiliated genes

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MGI Mouse Phenotypes related to Primary Hyperparathyroidism:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.6SLC26A6, GCM2, CASR, MEN1, PTH
2MP:00053767.4SLC26A6, PTH, SOST, MEN1, CASR, NR1I3

Publications for Primary Hyperparathyroidism

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Articles related to Primary Hyperparathyroidism:

(show top 50)    (show all 913)
idTitleAuthorsYear
1
Parathyroid adenoma in third pharyngeal pouch cyst as a rare case of primary hyperparathyroidism. (25245714)
2014
2
Humeral brown tumor as first presentation of primary hyperparathyroidism caused by ectopic parathyroid adenomas: report of two cases and review of literature. (25400803)
2014
3
Multiphase computed tomography forA localization of parathyroid disease in patients with primary hyperparathyroidism: How many phases do we really need? (25262222)
2014
4
Differentiating familial hypocalciuric hypercalcemia from primary hyperparathyroidism. (23425644)
2013
5
Is there a link between Hashimoto's thyroiditis and primary hyperparathyroidism? A study of serum parathormone and anti-TPO antibodies in 2267 patients. (23865082)
2013
6
The prevalence of undiagnosed and unrecognized primary hyperparathyroidism: a population-based analysis from the electronic medical record. (24383100)
2013
7
Radiographical appearance of osteitis fibrosa cystica in primary hyperparathyroidism before and after parathyroidectomy. (23365170)
2013
8
Epidemiology of Primary Hyperparathyroidism and its Non-classical Manifestations in the City of Recife, Brazil. (24348080)
2013
9
Safety of vitamin D replacement in patients with primary hyperparathyroidism and concomitant vitamin D deficiency. (23337136)
2013
10
Increasing incidence of primary hyperparathyroidism in Denmark. (23461985)
2013
11
Does the pre-operative serum phosphate level predict early hypocalcaemia following parathyroidectomy for primary hyperparathyroidism? (23312554)
2013
12
Vitamin D status in normocalcaemic primary hyperparathyroidism. (23260223)
2013
13
Incidence and prevalence of primary hyperparathyroidism in a racially mixed population. (23418315)
2013
14
Aggressive pulmonary calcification developed after living donor kidney transplantation in a patient with primary hyperparathyroidism. (24034059)
2013
15
Focused parathyroidectomy with intraoperative parathyroid hormone monitoring in patients with lithium-associated primary hyperparathyroidism. (23352236)
2013
16
Arterial Hypertension, Metabolic Syndrome and Subclinical Cardiovascular Organ Damage in Patients with Asymptomatic Primary Hyperparathyroidism before and after Parathyroidectomy: Preliminary Results. (22719761)
2012
17
A comparison of outcomes for younger and older adult patients undergoing surgery for primary hyperparathyroidism. (22207049)
2012
18
Preoperative a8^a8^mTc-sestamibi scintigraphy in patients with primary hyperparathyroidism and concomitant nodular goiter: comparison of SPECT-CT, SPECT, and planar imaging. (22825041)
2012
19
Primary hyperparathyroidism and familial hypocalciuric hypercalcemia: relationships and clinical implications. (22232026)
2012
20
The association of primary hyperparathyroidism with pancreatitis. (22874807)
2012
21
Functioning glucagonoma associated with primary hyperparathyroidism: multiple endocrine neoplasia type 1 or incidental association? (23259638)
2012
22
Forearm bone mineral density in familial hypocalciuric hypercalcemia and primary hyperparathyroidism: a comparative study. (21785908)
2011
23
Primary hyperparathyroidism patients with positive preoperative sestamibi scan and negative ultrasound are more likely to have posteriorly located upper gland adenomas (PLUGs). (21207169)
2011
24
Can biochemical abnormalities predict symptomatology in patients with primary hyperparathyroidism? (21723154)
2011
25
Breast cancer associated with primary hyperparathyroidism: a nested case control study. (21487450)
2011
26
Lithium use and primary hyperparathyroidism. (21247849)
2011
27
Unusual case of calciphylaxis associated with primary hyperparathyroidism without coexistent renal failure. (18463046)
2008
28
Tc-99m sestamibi uptake mimicking parathyroid adenoma in a patient with primary hyperparathyroidism and occult multiple myeloma. (18287846)
2008
29
Normocalcemic, subclinical, asymptomatic primary hyperparathyroidism in patients with goiter or papillary thyroid cancer--preliminary report. Normocalcemic primary hyperparathyroidism and thyroid pathology. (17966885)
2007
30
Primary hyperparathyroidism due to parathyroid adenoma. (17268723)
2007
31
Primary hyperparathyroidism--what the nephrologist should know--an update. (17138574)
2007
32
Regulation of plasma fibroblast growth factor 23 by calcium in primary hyperparathyroidism. (16381997)
2006
33
Utilisation of a cryptic non-canonical donor splice site of the gene encoding PARAFIBROMIN is associated with familial isolated primary hyperparathyroidism. (16061557)
2005
34
Inhibition of growth hormone secretion in mild primary hyperparathyroidism. (15249740)
2004
35
Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism. (12699448)
2003
36
Recovery pattern of patients with osteitis fibrosa cystica in primary hyperparathyroidism after successful parathyroidectomy. (12490858)
2002
37
An unusual presentation of calciphylaxis due to primary hyperparathyroidism. (11570914)
2001
38
Molecular mechanisms of primary hyperparathyroidism. (11706744)
2000
39
Lack of relationship between BsmI vitamin D receptor polymorphism and primary hyperparathyroidism in a Spanish female population. (10441653)
1999
40
Increased biochemical markers of bone formation and resorption in primary hyperparathyroidism with special reference to patients with mild disease. (9566639)
1998
41
Plasma chromogranin A in pheochromocytoma, primary hyperparathyroidism and pituitary adenoma in comparison with catecholamine, parathyroid hormone and pituitary hormones. (9228469)
1997
42
Primary hyperparathyroidism due to parathyroid carcinoma. (9204627)
1997
43
Increased plasma levels of islet amyloid polypeptide in patients with primary hyperparathyroidism. (8616529)
1996
44
Coexisting hyperthyroidism and primary hyperparathyroidism with vitamin D-deficient osteomalacia in a Vietnamese immigrant. (15251523)
1996
45
Vitamin D receptor genotypes in primary hyperparathyroidism. (7489414)
1995
46
Plasma intact parathyroid hormone (PTH) and PTH-related peptide in familial benign hypercalcemia: greater responsiveness to endogenous PTH than in primary hyperparathyroidism. (1997510)
1991
47
Chromogranin A and B in parathyroid tissue of cases of primary hyperparathyroidism: an immunohistochemical study. (2024450)
1991
48
Nephrocalcinosis, hypercalcemia, sarcoidosis or primary hyperparathyroidism? (3983783)
1985
49
Primary hyperparathyroidism in infancy associated with familial hypocalciuric hypercalcemia. (6312730)
1983
50
Primary hyperparathyroidism: possible cause of primary hyperaldosteronism in a 60-year-old woman. (6991517)
1980

Variations for Primary Hyperparathyroidism

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Expression for genes affiliated with Primary Hyperparathyroidism

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Search GEO for disease gene expression data for Primary Hyperparathyroidism.

Pathways for genes affiliated with Primary Hyperparathyroidism

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Pathways related to Primary Hyperparathyroidism according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7PTH, BGLAP
29.7PTH, BGLAP
39.6NR1I3, BGLAP

Compounds for genes affiliated with Primary Hyperparathyroidism

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Compounds related to Primary Hyperparathyroidism according to GeneCards Suite gene sharing:

(show all 42)
idCompoundScoreTop Affiliating Genes
1cinacalcet43 28 1212.2NR1I3, CASR
2gadolinium4310.2NR1I3, CASR
3l-tryptophan49 28 43 24 1214.1NR1I3, CASR
4l-amino acid4310.1NR1I3, CASR
5sevelamer4310.1CASR, BGLAP
622-oxacalcitriol4310.1CASR, BGLAP
7thiazide4310.1CASR, BGLAP
8calcium carbonate4310.1PTH, BGLAP
9dehydroepiandrosterone sulfate4310.1PTH, NR1I3
10spermine28 43 24 1213.0NR1I3, CASR
11hydrochlorothiazide43 28 49 24 1214.0CASR, BGLAP
12alfacalcidol43 59 1212.0BGLAP, NR1I3
13calcipotriol43 59 28 1213.0NR1I3, BGLAP
14deoxypyridinoline4310.0BGLAP, PTH
15alendronate43 49 1212.0PTH, BGLAP
16eb 108943 5911.0NR1I3, BGLAP
17hydroxyproline43 24 1211.9PTH, BGLAP
18neomycin439.9CASR, NR1I3
19hydroxyapatite439.9CASR, BGLAP
20inositol 1,4,5 trisphosphate439.9PTH, CASR, NR1I3
21pamidronate43 49 1211.8BGLAP, PTH, CASR
22ribonucleic acid439.8PTH, CASR, NR1I3
2325-hydroxyvitamin d439.8BGLAP, PTH, CASR
24estrone43 28 24 1212.7NR1I3, PTH, BGLAP
25estradiol43 24 1211.6NR1I3, PTH, BGLAP
26pge2439.6CASR, PTH, BGLAP
27cyclosporin a43 28 5911.5BGLAP, CASR, NR1I3
28thymidine43 2410.5NR1I3, MEN1, PTH
29sodium43 2410.5NR1I3, CASR, PTH
30cyclic amp43 2410.5NR1I3, CASR, PTH
31phosphorus439.5NR1I3, CASR, PTH, BGLAP
321,25 dihydroxy vitamin d3439.4NR1I3, CASR, PTH, BGLAP
33calcitriol43 59 24 1212.4NR1I3, CASR, PTH, BGLAP
34procollagen439.4PTH, BGLAP
35trypsinogen439.4CTRC, PRSS2
36arginine439.4BGLAP, PTH, CASR, NR1I3
37creatinine439.3BGLAP, PTH, CASR
38cysteine438.7CASR, PRSS2, SOST, BGLAP
39vitamin d438.6NR1I3, BGLAP, PTH, SOST, MEN1, CASR
40estrogen438.6BGLAP, PTH, SOST, MEN1, CASR, NR1I3
41serine438.0BGLAP, PRSS2, MEN1, CASR, NR1I3, CTRC
42calcium43 49 24 129.7BGLAP, PTH, SOST, PRSS2, MEN1, CASR

GO Terms for genes affiliated with Primary Hyperparathyroidism

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Cellular components related to Primary Hyperparathyroidism according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1membrane-bounded vesicleGO:00319889.2SLC26A6, BGLAP
2extracellular spaceGO:00056158.4PRSS2, SOST, PTH, BGLAP

Biological processes related to Primary Hyperparathyroidism according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1response to vitamin DGO:00332809.8PTH, BGLAP
2response to ethanolGO:00454719.7PTH, BGLAP
3osteoblast developmentGO:00020769.7BGLAP, MEN1
4cellular calcium ion homeostasisGO:00068749.6GCM2, CASR, PTH
5response to mechanical stimulusGO:00096129.4SOST, BGLAP
6ossificationGO:00015039.4CASR, SOST

Molecular functions related to Primary Hyperparathyroidism according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA bindingGO:00435659.3GCM2, NR1I3, MEN1

Products for genes affiliated with Primary Hyperparathyroidism

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Sources for Primary Hyperparathyroidism

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet