FIHPT
MCID: PRM005
MIFTS: 71

Primary Hyperparathyroidism (FIHPT) malady

Genetic diseases, Rare diseases, Endocrine diseases, Cancer diseases categories
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Summaries for Primary Hyperparathyroidism

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NIH Rare Diseases:42 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 familial benign hypercalcemia, is related to osteitis fibrosa and hyperparathyroidism-jaw tumor syndrome. An important gene associated with Primary Hyperparathyroidism is MEN1 (multiple endocrine neoplasia I), and among its related pathways are Development Hedgehog and PTH signaling pathways in bone and cartilage development and Osteoblast Signaling. The drugs sodium iodide and sodium iodide i123 and the compounds gadolinium and 22-oxacalcitriol have been mentioned in the context of this disorder. Affiliated tissues include bone, thyroid and kidney, and related mouse phenotypes are immune system and endocrine/exocrine gland.

Wikipedia:65 Primary hyperparathyroidism It is usually caused by a tumour within the parathyroid gland. The symptoms... more...

Descriptions from OMIM:46 145000,610071

Aliases & Classifications for Primary Hyperparathyroidism

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Sources:
8Disease Ontology, 62UMLS, 22GTR, 9diseasecard, 48Orphanet, 42NIH Rare Diseases, 44Novoseek, 57SNOMED-CT, 34MeSH, 27ICD9CM, 39NCIt, 46OMIM, 26ICD10 via Orphanet, 35MESH via Orphanet, 63UMLS via Orphanet, 25ICD10
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Primary Hyperparathyroidism, Aliases & Descriptions:

Name: Primary Hyperparathyroidism 8
Familial Benign Hypercalcemia 8 22 62
Familial Isolated Hyperparathyroidism 48 62
Familial Primary Hyperparathyroidism 8 62
Hyperparathyroidism, Primary 42 62
Primary Hyperthyroidism 42 62
 
Hyperparathyroidism, Familial Primary 9
Hypercalcemia, Familial Benign 44
Parathyroid Adenoma, Familial 62
Familial Parathyroid Adenoma 48
Hyperparathyroidism Primary 44
Fihpt 48


Classifications:

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


External Ids:

Disease Ontology8 DOID:11202
MeSH34 D049950
ICD9CM27 252.01
NCIt39 C48280
ICD10 via Orphanet26 E21.0
MESH via Orphanet35 C564166
UMLS via Orphanet63 C1840403
ICD1025 E21.0, E21.3

Related Diseases for Primary Hyperparathyroidism

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Diseases in the Primary Hyperparathyroidism family:

Hyperparathyroidism Hyperparathyroidism 3

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

(show top 50)    (show all 201)
idRelated DiseaseScoreTop Affiliating Genes
1osteitis fibrosa31.4CASR, PTH, BGLAP
2hyperparathyroidism-jaw tumor syndrome31.3CDC73
3parathyroid carcinoma31.2PTH, MEN1, CASR, CDC73
4hyperparathyroidism31.2BGLAP, PTH, MEN1, FGF23, CDC73, NR1I3
5multiple endocrine neoplasia31.2MEN1, CALCA, CDC73
6parathyroid adenoma31.1CDC73, CALCA, CASR, MEN1, PTH
7osteosclerosis31.0SOST, PTH
8hyperparathyroidism, neonatal31.0CASR, NR1I3
9nephrocalcinosis31.0CASR, NR1I3
10goiter30.9BGLAP, PTH, CALCA
11pancreatitis30.8SPINK1, PRSS2, CASR, CTRC
12hyperthyroidism30.7BGLAP, PTH, FGF23
13ossifying fibroma30.7CDC73
14fibrous dysplasia30.7FGF23, BGLAP
15paget's disease of bone30.6CALCA
16familial isolated hyperparathyroidism30.6MEN1, CDC73
17calcinosis30.5FGF23, CASR, PTH
18acromegaly30.5BGLAP, MEN1
19adenoma30.4SPINK1, PTH, MEN1, CASR, CALCA, NR1I3
20rickets30.4FGF23, PTH, BGLAP
21multiple endocrine neoplasia type 2a30.4PTH, MEN1, CALCA, CDC73
22graves' disease30.4BGLAP, CASR, FGF23
23uremia30.3NR1I3, CASR, MEN1, PTH
24pseudohypoparathyroidism30.3BGLAP, PTH, CALCA
25insulinoma30.3CALCA, CASR, MEN1
26osteomalacia30.3BGLAP, PTH, CASR, CALCA, FGF23
27nephrolithiasis30.0PTH, CASR, NR1I3, SLC26A6, FGF23
28breast cancer29.9PTH, MEN1, CASR, CALCA, NR1I3
29hypercalcemia29.9FGF23, SPINK1, BGLAP, PTH, MEN1, CASR
30giant cell tumor29.8BGLAP, CALCA, FGF23
31osteoporosis29.6BGLAP, PTH, SOST, CASR, CALCA, NR1I3
32renal osteodystrophy29.5BGLAP, PTH, CASR, CALCA, FGF23
33hypoparathyroidism29.4BGLAP, PTH, CASR, CALCA, NR1I3, GCM2
34thyroiditis10.7
35familial hypocalciuric hypercalcemia10.6
36vipoma10.5MEN1
37osteonecrosis10.5BGLAP
38pheochromocytoma10.5
39tropical calcific pancreatitis10.4SPINK1
40thyroid cancer10.4
41hypoparathyroidism familial isolated10.4PTH, GCM2
42hypertension10.4
43multinodular goiter10.4
44papillary thyroid carcinoma10.4
45endotheliitis10.4
46pseudohypoparathyroidism type 1b10.4PTH, BGLAP
47hypervitaminosis d10.4FGF23
48acute pancreatitis10.4
49calciphylaxis10.4
50gastrinoma10.3CASR, MEN1

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



Diseases related to primary hyperparathyroidism

Symptoms for Primary Hyperparathyroidism

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Clinical features from OMIM:

145000,610071

Drugs & Therapeutics for Primary Hyperparathyroidism

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Drug clinical trials:

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Search NIH Clinical Center for Primary Hyperparathyroidism

Inferred drug relations via UMLS62/NDF-RT40:

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:

32
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:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053878.3FGF23, CDC73, CASR, MEN1, PTH, SPINK1
2MP:00053798.2SPINK1, PTH, MEN1, CASR, GCM2, CDC73
3MP:00053818.1SPINK1, MEN1, CASR, CDC73, SLC26A6, FGF23
4MP:00053677.8CASR, CALCA, GCM2, CDC73, SLC26A6, FGF23
5MP:00107717.7SPINK1, CASR, CALCA, CDC73, FGF23
6MP:00053907.7PTH, SOST, CASR, CALCA, GCM2, FGF23
7MP:00053787.6SPINK1, PTH, SOST, MEN1, CASR, NR1I3
8MP:00107687.0SPINK1, PTH, MEN1, CASR, CALCA, NR1I3
9MP:00053766.1FGF23, SPINK1, PTH, SOST, MEN1, CASR

Publications for Primary Hyperparathyroidism

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Articles related to Primary Hyperparathyroidism:

(show top 50)    (show all 887)
idTitleAuthorsYear
1
Parathyroid adenoma in third pharyngeal pouch cyst as a rare case of primary hyperparathyroidism. (25245714)
2014
2
Surgical treatment of primary hyperparathyroidism: description of techniques and advances in the field. (25278656)
2014
3
Humeral brown tumor as first presentation of primary hyperparathyroidism caused by ectopic parathyroid adenomas: report of two cases and review of literature. (25400803)
2014
4
Multiphase computed tomography forA localization of parathyroid disease in patients with primary hyperparathyroidism: How many phases do we really need? (25262222)
2014
5
Differentiating familial hypocalciuric hypercalcemia from primary hyperparathyroidism. (23425644)
2013
6
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
7
The prevalence of undiagnosed and unrecognized primary hyperparathyroidism: a population-based analysis from the electronic medical record. (24383100)
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
Safety of vitamin D replacement in patients with primary hyperparathyroidism and concomitant vitamin D deficiency. (23337136)
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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Expression patterns in normal tissues for genes affiliated with Primary Hyperparathyroidism

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Pathways for genes affiliated with Primary Hyperparathyroidism

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Compounds for genes affiliated with Primary Hyperparathyroidism

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Compounds related to Primary Hyperparathyroidism according to GeneCards/GeneDecks:

(show top 50)    (show all 58)
idCompoundScoreTop Affiliating Genes
1gadolinium4410.2CASR, NR1I3
222-oxacalcitriol4410.2CASR, BGLAP
3calcipotriol44 61 28 1112.9NR1I3, BGLAP
4estrone44 28 24 1112.9NR1I3, PTH, BGLAP
5inositol 1,4,5 trisphosphate449.8PTH, CASR, NR1I3
6strontium ranelate449.8CASR, CALCA
7ipriflavone449.7CALCA, BGLAP
8calcium gluconate449.7CALCA, BGLAP
9sevelamer449.7FGF23, CASR, BGLAP
1024,25-dihydroxyvitamin d3449.7BGLAP, CALCA
11teriparatide44 1110.7BGLAP, CALCA
12denosumab44 1110.7SOST, CALCA
13etidronate449.7BGLAP, CALCA
14nandrolone decanoate44 1110.6BGLAP, CALCA
15ibandronate44 1110.6BGLAP, CALCA
16hydroxyapatite449.6FGF23, CASR, BGLAP
17l-tryptophan50 28 44 24 1113.6CASR, NR1I3
18vitamin k2449.6CALCA, BGLAP
19tartrate449.6CALCA, BGLAP
20sodium fluoride449.6BGLAP, CALCA
21cinacalcet44 28 1111.5CASR, CALCA, NR1I3
22risedronate44 50 28 61 1113.5CALCA, BGLAP
23trypsinogen449.5SPINK1, PRSS2, CTRC
24clodronate44 50 1111.5CALCA, BGLAP
25thiazide449.5BGLAP, CASR, CALCA
26calcium carbonate449.4BGLAP, PTH, CALCA
27alfacalcidol44 61 1111.4NR1I3, CALCA, BGLAP
28deoxypyridinoline449.4BGLAP, PTH, CALCA
29alendronate44 50 1111.4CALCA, PTH, BGLAP
30hydroxyproline44 24 1111.4BGLAP, PTH, CALCA
31tibolone449.4CALCA, BGLAP
32pyridinoline449.3BGLAP, CALCA
33phenylalanine449.3FGF23, NR1I3, CASR
34thyroxine44 2410.3CALCA, PTH, BGLAP
35pamidronate44 50 1111.2BGLAP, PTH, CASR, CALCA
36fluoride449.2SPINK1, BGLAP, CALCA
37pge2449.1BGLAP, PTH, CASR, CALCA
38cyclosporin a44 28 6111.0BGLAP, CASR, CALCA, NR1I3
39arginine449.0BGLAP, PTH, CASR, NR1I3, FGF23
40cyclic amp44 2410.0PTH, CASR, CALCA, NR1I3
41testosterone44 61 24 1111.6NR1I3, CALCA, PTH, BGLAP
4225-hydroxyvitamin d448.6BGLAP, PTH, CASR, CALCA, FGF23
43phosphorus448.3FGF23, BGLAP, PTH, CASR, CALCA, NR1I3
441,25 dihydroxy vitamin d3448.3BGLAP, PTH, CASR, CALCA, NR1I3, FGF23
45calcitriol44 61 24 1111.3BGLAP, PTH, CASR, CALCA, NR1I3, FGF23
46estrogen448.3BGLAP, PTH, SOST, MEN1, CASR, CALCA
47creatinine448.0SPINK1, BGLAP, PTH, CASR, CALCA, FGF23
48serine447.7SPINK1, BGLAP, PRSS2, MEN1, CASR, NR1I3
49vitamin d447.7BGLAP, PTH, SOST, MEN1, CASR, CALCA
50calcium44 50 24 119.0PRSS2, SOST, PTH, BGLAP, SPINK1, MEN1

GO Terms for genes affiliated with Primary Hyperparathyroidism

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Cellular components related to Primary Hyperparathyroidism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1membrane-bounded vesicleGO:0319889.6SLC26A6, BGLAP
2extracellular spaceGO:0056157.5FGF23, CALCA, PRSS2, SOST, PTH, BGLAP
3extracellular regionGO:0055767.1SPINK1, BGLAP, PTH, PRSS2, CALCA, FGF23

Biological processes related to Primary Hyperparathyroidism according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1response to vitamin DGO:03328010.0BGLAP, PTH
2osteoblast developmentGO:00207610.0BGLAP, MEN1
3cellular calcium ion homeostasisGO:0068749.8GCM2, CASR, PTH
4response to mechanical stimulusGO:0096129.8SOST, BGLAP
5cellular phosphate ion homeostasisGO:0306439.7FGF23, GCM2
6negative regulation of osteoblast differentiationGO:0456689.6FGF23, MEN1
7negative regulation of ossificationGO:0302799.4SOST, CALCA
8positive regulation of cAMP biosynthetic processGO:0308199.3CALCA, PTH
9adenylate cyclase-activating G-protein coupled receptor signaling pathwayGO:0071899.1CALCA, PTH

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
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet