MCID: HYP069
MIFTS: 57

Hyperparathyroidism malady

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

Summaries for Hyperparathyroidism

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Disease Ontology:9 A parathyroid gland disease characterized by an overactivity of the parathyroid glands, leading to an excess of parathyroid hormone in the body.

MalaCards based summary: Hyperparathyroidism is related to hyperparathyroidism-jaw tumor syndrome and hyperparathyroidism, familial primary. An important gene associated with Hyperparathyroidism is CDC73 (cell division cycle 73), and among its related pathways are Drug Induction of Bile Acid Pathway and Osteoblast Signaling. The drugs dihydrotachysterol and calcitriol and the compounds calcifediol and pyridinoline have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and thyroid, and related mouse phenotypes are craniofacial and integument.

Wikipedia:63 Hyperparathyroidism is overactivity of the parathyroid glands resulting in excess production of... more...

Aliases & Classifications for Hyperparathyroidism

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Sources:
9Disease Ontology, 11DISEASES, 43Novoseek, 60UMLS, 55SNOMED-CT, 27ICD9CM, 33MeSH, 38NCIt
See all sources

Hyperparathyroidism, Aliases & Descriptions:

Name: Hyperparathyroidism 9 11 43 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:13543
ICD9CM27 252.0, 252.00
MeSH33 D006961
NCIt38 C48259

Related Diseases for Hyperparathyroidism

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Diseases in the Hyperparathyroidism family:

Hyperparathyroidism 3 Hyperparathyroidism, Familial Primary
Primary Hyperparathyroidism

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

(show top 50)    (show all 300)
idRelated DiseaseScoreTop Affiliating Genes
1hyperparathyroidism-jaw tumor syndrome32.0CDC73
2hyperparathyroidism, familial primary31.6MEN1, CDC73
3parathyroid carcinoma31.3PTH, MEN1, CASR, CDC73
4kidney disease31.3FGF23, CASR, VDR
5nephrocalcinosis31.1CASR, NR1I3
6osteitis fibrosa31.0ALPP, CASR, PTH, BGLAP
7ossifying fibroma30.9CDC73
8nephrolithiasis30.8VDR, CASR
9uremia30.8VDR, PTH, MEN1, CASR, NR1I3
10hyperparathyroidism, neonatal30.8NR1I3, CASR, PRKAR1A
11rickets, vitamin d-resistant, type iia30.8VDR, CYP27B1
12giant cell tumor30.6CALCA
13hypophosphatasia30.6ALPP
14thyroid cancer30.6RET, CASR, CALCA
15hyperphosphatemia30.5VDR, PTH, CASR, ALPP, FGF23
16goiter30.5BGLAP, PTH, RET, CALCA
17multiple endocrine neoplasia30.5PRKAR1A, RET, MEN1, CALCA, CDC73
18pheochromocytoma30.5RET, MEN1, CALCA
19calcinosis30.5FGF23, ALPP, CASR, PTH
20insulinoma30.5MEN1, CASR, CALCA
21fibrous dysplasia30.4BGLAP, ALPP, FGF23
22nodular goiter30.4RET, CALCA
23pseudohypoparathyroidism30.4BGLAP, PTH, PTHLH, CALCA
24hypervitaminosis d30.4FGF23, CYP27B1
25brachydactyly30.3PTH
26multiple endocrine neoplasia 130.2PRKAR1A, MEN1, CDC73
27gastrinoma30.2CASR, MEN1
28hyperostosis30.2BGLAP, FGF23
29paget disease of bone30.2BGLAP, CALCA
30mccune-albright syndrome, somatic, mosaic30.2PRKAR1A, FGF23
31hyperthyroidism30.2BGLAP, PTH, ACP5, ALPP, FGF23
32graves' disease30.2VDR, CYP27B1, BGLAP, CASR, FGF23
33acromegaly30.1BGLAP, PRKAR1A, MEN1
34adenoma30.1VDR, PTH, PRKAR1A, RET, MEN1, CASR
35hypothyroidism30.0RET, CALCA
36multiple endocrine neoplasia iia30.0PTH, RET, MEN1, CALCA, CDC73
37prolactinoma30.0MEN1, PRKAR1A, PTHLH
38rickets30.0VDR, CYP27B1, BGLAP, PTH, ACP5, ALPP
39thyroid adenoma30.0PRKAR1A, RET
40pseudohypoparathyroidism, type ib30.0BGLAP, PTH, PTHLH
41osteogenesis imperfecta30.0ALPP, BGLAP
42gaucher's disease30.0BGLAP, ACP5
43myeloma29.9BGLAP, PTHLH, ACP5, ALPP
44thyroid carcinoma, follicular29.9RET, CALCA
45renal osteodystrophy29.9VDR, BGLAP, PTH, ACP5, CASR, CALCA
46adrenal adenoma29.9MEN1, PRKAR1A
47osteomalacia29.8FGF23, ALPP, CALCA, CASR, VDR, CYP27B1
48dwarfism29.7PTH, PTHLH
49arthritis29.7VDR, BGLAP, ACP5, CALCA, ALPP
50parathyroid gland disease29.6MEN1, CASR, CDC73, RET, PTHLH, PTH

Graphical network of the top 20 diseases related to Hyperparathyroidism:



Diseases related to hyperparathyroidism

Symptoms for Hyperparathyroidism

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Drugs & Therapeutics for Hyperparathyroidism

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Drug clinical trials:

Search ClinicalTrials for Hyperparathyroidism

Search NIH Clinical Center for Hyperparathyroidism

Inferred drug relations via UMLS60/NDF-RT39:

Genetic Tests for Hyperparathyroidism

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Anatomical Context for Hyperparathyroidism

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MalaCards organs/tissues related to Hyperparathyroidism:

31
Bone, Kidney, Thyroid, Testes, Endothelial, Liver, Lung, Breast, Bone marrow, Pituitary, Pancreatic islet, Eye, Thymus, Brain, Colon, Skin, Prostate, Neutrophil

Animal Models for Hyperparathyroidism or affiliated genes

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MGI Mouse Phenotypes related to Hyperparathyroidism:

35 (show all 18)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.9MEN1, PRKAR1A, PTHLH, PTH, VDR
2MP:00107718.6VDR, CYP27B1, PTHLH, CASR, CALCA, CDC73
3MP:00053698.6VDR, PRKAR1A, RET, MEN1, CASR, CDC73
4MP:00053678.4VDR, CYP27B1, PTHLH, RET, CASR, CALCA
5MP:00053888.4PTHLH, PRKAR1A, RET, CALCA, CDC73, FGF23
6MP:00053718.3VDR, CYP27B1, PTH, PTHLH, RET, ACP5
7MP:00053818.2VDR, PTHLH, PRKAR1A, RET, MEN1, CASR
8MP:00053798.1VDR, CYP27B1, PTH, PTHLH, PRKAR1A, RET
9MP:00053808.0PRKAR1A, RET, MEN1, CALCA, ALPP, CDC73
10MP:00053847.9VDR, CYP27B1, PTHLH, PRKAR1A, RET, MEN1
11MP:00053907.8VDR, CYP27B1, PTH, PTHLH, PRKAR1A, ACP5
12MP:00053857.8VDR, PTH, PTHLH, PRKAR1A, RET, MEN1
13MP:00053897.5PRKAR1A, PTHLH, CYP27B1, VDR, RET, MEN1
14MP:00053977.4VDR, CYP27B1, PTH, PTHLH, PRKAR1A, RET
15MP:00053877.3VDR, CYP27B1, PTH, PTHLH, PRKAR1A, RET
16MP:00053767.2PRKAR1A, PTHLH, PTH, CYP27B1, VDR, RET
17MP:00053787.0FGF23, VDR, CYP27B1, PTH, PTHLH, PRKAR1A
18MP:00107686.8RET, PRKAR1A, PTHLH, PTH, VDR, MEN1

Publications for Hyperparathyroidism

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Articles related to Hyperparathyroidism:

(show top 50)    (show all 1768)
idTitleAuthorsYear
1
Parathyroid adenoma in third pharyngeal pouch cyst as a rare case of primary hyperparathyroidism. (25245714)
2014
2
Differentiating familial hypocalciuric hypercalcemia from primary hyperparathyroidism. (23425644)
2013
3
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
4
Intraoperative PTH cutoff definition to predict successful parathyroidectomy in secondary and tertiary hyperparathyroidism. (23929152)
2013
5
Secondary and tertiary hyperparathyroidism. (23267748)
2013
6
The prevalence of undiagnosed and unrecognized primary hyperparathyroidism: a population-based analysis from the electronic medical record. (24383100)
2013
7
The diagnostic value of parathyroid hormone washout after fine-needle aspiration of suspicious cervical lesions in patients with hyperparathyroidism. (23553068)
2013
8
Radiographical appearance of osteitis fibrosa cystica in primary hyperparathyroidism before and after parathyroidectomy. (23365170)
2013
9
Epidemiology of Primary Hyperparathyroidism and its Non-classical Manifestations in the City of Recife, Brazil. (24348080)
2013
10
Arterial Hypertension, Metabolic Syndrome and Subclinical Cardiovascular Organ Damage in Patients with Asymptomatic Primary Hyperparathyroidism before and after Parathyroidectomy: Preliminary Results. (22719761)
2012
11
A comparison of outcomes for younger and older adult patients undergoing surgery for primary hyperparathyroidism. (22207049)
2012
12
Accidental discovery of lung metastases from differentiated thyroid cancer by 99mTc sodium pertechnetate scan in a patient with secondary hyperparathyroidism. (22889782)
2012
13
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
14
Primary hyperparathyroidism and familial hypocalciuric hypercalcemia: relationships and clinical implications. (22232026)
2012
15
Transient hyperthyroidism after surgery for secondary hyperparathyroidism: a common problem. (21813380)
2011
16
CDC73-related hereditary hyperparathyroidism: five new mutations and the clinical spectrum. (21652691)
2011
17
Forearm bone mineral density in familial hypocalciuric hypercalcemia and primary hyperparathyroidism: a comparative study. (21785908)
2011
18
Primary hyperparathyroidism patients with positive preoperative sestamibi scan and negative ultrasound are more likely to have posteriorly located upper gland adenomas (PLUGs). (21207169)
2011
19
An association between invasive breast cancer and familial idiopathic hyperparathyroidism: a case series and review of the literature. (18500673)
2009
20
Phosphatemic effect of cinacalcet in kidney transplant recipients with persistent hyperparathyroidism. (18950915)
2008
21
Unusual case of calciphylaxis associated with primary hyperparathyroidism without coexistent renal failure. (18463046)
2008
22
Tc-99m sestamibi uptake mimicking parathyroid adenoma in a patient with primary hyperparathyroidism and occult multiple myeloma. (18287846)
2008
23
Normocalcemic, subclinical, asymptomatic primary hyperparathyroidism in patients with goiter or papillary thyroid cancer--preliminary report. Normocalcemic primary hyperparathyroidism and thyroid pathology. (17966885)
2007
24
Primary hyperparathyroidism due to parathyroid adenoma. (17268723)
2007
25
Regulation of plasma fibroblast growth factor 23 by calcium in primary hyperparathyroidism. (16381997)
2006
26
Prevalence of secondary hyperparathyroidism (SHPT) and causal factors in adult population in ReykjavA-k area]. (16155312)
2005
27
Assessment of therapeutic effect in patients with secondary hyperparathyroidism using bone scintigraphy. (16164192)
2005
28
Inhibition of growth hormone secretion in mild primary hyperparathyroidism. (15249740)
2004
29
The parathyroid hormone-2 receptor is expressed on human leukocytes and down-regulated in hyperparathyroidism. (12834174)
2003
30
The role of hyperparathyroidism, erythropoietin therapy, and CMV infection in the failure of arteriovenous fistula in hemodialysis. (12846770)
2003
31
Regulation of the calcium-sensing receptor. Influence of secondary hyperparathyroidism]. (12778846)
2003
32
Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism. (12699448)
2003
33
Recovery pattern of patients with osteitis fibrosa cystica in primary hyperparathyroidism after successful parathyroidectomy. (12490858)
2002
34
Pathogenesis of refractory secondary hyperparathyroidism. (11982830)
2002
35
Visual vignette. Hyperparathyroidism due to a parathyroid adenoma. (11441818)
2000
36
Vitamin D deficiency and secondary hyperparathyroidism: clinical and biochemical associations in older non-institutionalised Southern Tasmanians. (10833112)
2000
37
Familial isolated hyperparathyroidism: a report of two cases]. (10689881)
2000
38
Molecular mechanisms of primary hyperparathyroidism. (11706744)
2000
39
A randomized trial of sevelamer hydrochloride (RenaGel) with and without supplemental calcium. Strategies for the control of hyperphosphatemia and hyperparathyroidism in hemodialysis patients. (9988142)
1999
40
Lack of relationship between BsmI vitamin D receptor polymorphism and primary hyperparathyroidism in a Spanish female population. (10441653)
1999
41
Novel V184E MEN1 germline mutation in a Japanese kindred with familial hyperparathyroidism. (9843042)
1998
42
Plasma chromogranin A in pheochromocytoma, primary hyperparathyroidism and pituitary adenoma in comparison with catecholamine, parathyroid hormone and pituitary hormones. (9228469)
1997
43
Prediction of bone mass in renal hyperparathyroidism by newly developed bone metabolic markers: evaluation of serum levels of carboxy-terminal pyridinoline cross-linked telopeptide of type I collagen and carboxy-terminal propeptide of type I procollagen. (8678946)
1996
44
Lack of influence of recombinant human erythropoietin on parathyroid function in hemodialysis patients with secondary hyperparathyroidism. (7566308)
1995
45
Renal function in hyperparathyroidism with complicating nephrocalcinosis. (8453206)
1993
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
Calciphylaxis in a renal dialysis patient with secondary hyperparathyroidism. (3452312)
1987
49
Nephrocalcinosis, hypercalcemia, sarcoidosis or primary hyperparathyroidism? (3983783)
1985
50
Intracranial calcification in hyperparathyroidism associated with gait apraxia and parkinsonism. (7191528)
1980

Variations for Hyperparathyroidism

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Expression for genes affiliated with Hyperparathyroidism

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Search GEO for disease gene expression data for Hyperparathyroidism.

Pathways for genes affiliated with Hyperparathyroidism

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Compounds for genes affiliated with Hyperparathyroidism

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Compounds related to Hyperparathyroidism according to GeneCards Suite gene sharing:

(show top 50)    (show all 123)
idCompoundScoreTop Affiliating Genes
1calcifediol5910.0VDR, CYP27B1, NR1I3
2pyridinoline4310.0ALPP, CALCA
3sevelamer439.9FGF23, CASR, BGLAP
4paricalcitol43 1210.9VDR, CYP27B1, PTH
5calcipotriol43 59 28 1212.7NR1I3, BGLAP, CYP27B1, VDR
6thiazide439.7VDR, BGLAP, CASR, CALCA
7etidronic acid43 49 1211.6VDR, CALCA, ALPP
8ipriflavone439.6ALPP, CALCA, BGLAP
9cinacalcet43 28 1211.5PRKAR1A, CASR, CALCA, NR1I3
10gadolinium439.5PRKAR1A, CASR, NR1I3
11alfacalcidol43 59 1211.5CYP27B1, VDR, BGLAP, CALCA, NR1I3
12eb 108943 5910.4VDR, CYP27B1, BGLAP, PTHLH, NR1I3
13etidronate439.4BGLAP, CALCA, ALPP
1424,25-dihydroxyvitamin d3439.2ALPP, CALCA, BGLAP, CYP27B1, VDR
1522-oxacalcitriol439.2VDR, BGLAP, PTHLH, CASR, ALPP
16zoledronic acid439.2BGLAP, PTHLH, CALCA, ALPP
17clodronate43 49 1211.1VDR, BGLAP, PTHLH, ACP5, CALCA
18calcium carbonate439.1BGLAP, PTH, PTHLH, CALCA, ALPP
19neomycin439.0PTHLH, PRKAR1A, CASR, ALPP, NR1I3
20pamidronate43 49 1210.9BGLAP, PTH, PTHLH, CASR, CALCA, ALPP
21procollagen438.8ALPP, ACP5, PTH, BGLAP
22alendronate43 49 1210.8VDR, BGLAP, PTH, PTHLH, CALCA, ALPP
23tartrate438.8BGLAP, PTHLH, ACP5, CALCA, ALPP
24forskolin43 49 1210.8CYP27B1, PTH, PTHLH, PRKAR1A, CASR, CALCA
25thyroxine43 249.8VDR, BGLAP, PTH, PTHLH, CALCA, ALPP
26estradiol43 24 1210.7CYP27B1, BGLAP, PTH, PTHLH, ACP5, NR1I3
27deoxypyridinoline438.7ALPP, CALCA, ACP5, PTH, BGLAP, VDR
28hydroxyapatite438.6BGLAP, PTHLH, ACP5, CASR, ALPP, FGF23
29hydroxyproline43 24 1210.5BGLAP, PTH, PTHLH, ACP5, CALCA, ALPP
30cyclosporin a43 28 5910.4VDR, BGLAP, ACP5, CASR, CALCA, ALPP
31paraffin438.3CYP27B1, BGLAP, PTHLH, RET, ACP5, ALPP
32cyclic amp43 249.3CYP27B1, PTH, PTHLH, PRKAR1A, RET, CASR
33thymidine43 249.2VDR, PTH, PTHLH, MEN1, ALPP, NR1I3
34vegf438.0BGLAP, PTH, PTHLH, RET, MEN1, CALCA
35alanine438.0VDR, BGLAP, PTHLH, RET, CASR, ALPP
36testosterone43 59 24 1210.9VDR, CYP27B1, BGLAP, PTH, PTHLH, RET
37pge2437.8VDR, CYP27B1, BGLAP, PTH, PTHLH, ACP5
38dexamethasone43 49 28 1210.8VDR, BGLAP, PTH, PTHLH, PRKAR1A, ACP5
39cysteine437.8VDR, CYP27B1, BGLAP, PRKAR1A, RET, ACP5
40serine437.8VDR, BGLAP, PTHLH, RET, MEN1, CASR
41tyrosine437.8CYP27B1, PTH, PTHLH, RET, MEN1, ACP5
42creatinine437.8VDR, BGLAP, PTH, PTHLH, ACP5, CASR
4325-hydroxyvitamin d437.6VDR, CYP27B1, BGLAP, PTH, PTHLH, ACP5
44arginine437.5VDR, BGLAP, PTH, PTHLH, PRKAR1A, RET
45estrogen437.3VDR, CYP27B1, BGLAP, PTH, PTHLH, MEN1
46phosphorus437.3ACP5, CASR, CALCA, ALPP, NR1I3, FGF23
471,25 dihydroxy vitamin d3437.3VDR, CYP27B1, BGLAP, PTH, PTHLH, ACP5
48calcitriol43 59 24 1210.3FGF23, NR1I3, VDR, CYP27B1, BGLAP, PTH
49vitamin d436.6FGF23, VDR, CYP27B1, BGLAP, PTH, PTHLH
50calcium43 49 24 129.2PRKAR1A, PTHLH, PTH, BGLAP, CYP27B1, VDR

GO Terms for genes affiliated with Hyperparathyroidism

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

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:00056158.9FGF23, CALCA, PTHLH, PTH, BGLAP

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

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of keratinocyte differentiationGO:004561810.2CYP27B1, VDR
2vitamin D catabolic processGO:004236910.2CYP27B1, FGF23
3decidualizationGO:004669710.1CYP27B1, VDR
4cAMP metabolic processGO:004605810.1PTH, PTHLH
5regulation of bone mineralizationGO:003050010.1CYP27B1, BGLAP
6positive regulation of vitamin D 24-hydroxylase activityGO:001098010.0FGF23, CYP27B1, VDR
7response to vitamin DGO:003328010.0PTH, BGLAP, CYP27B1
8cellular calcium ion homeostasisGO:000687410.0CASR, PTH, VDR
9bone mineralizationGO:00302829.9BGLAP, CYP27B1
10response to painGO:00482659.9RET, CALCA
11osteoblast developmentGO:00020769.8BGLAP, PTHLH, MEN1
12positive regulation of cAMP biosynthetic processGO:00308199.8CALCA, PTHLH, PTH
13adenylate cyclase-activating G-protein coupled receptor signaling pathwayGO:00071899.8PTH, PTHLH, CALCA
14bone resorptionGO:00454539.7ACP5, PTH
15transcription initiation from RNA polymerase II promoterGO:00063679.6VDR, MEN1, NR1I3
16skeletal system developmentGO:00015019.6PTHLH, PTH, BGLAP, VDR
17negative regulation of cell proliferationGO:00082859.5VDR, CYP27B1, PTHLH, MEN1, CDC73
18negative regulation of transcription, DNA-templatedGO:00458929.4VDR, MEN1, CALCA, NR1I3
19negative regulation of transcription from RNA polymerase II promoterGO:00001229.2CDC73, MEN1, PTH, VDR

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

idNameGO IDScoreTop Affiliating Genes
1peptide hormone receptor bindingGO:00514289.8PTHLH, PTH
2hormone activityGO:00051799.2CALCA, PTHLH, PTH

Products for genes affiliated with Hyperparathyroidism

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Sources for 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