FIHPT
MCID: PRM005
MIFTS: 66

Primary Hyperparathyroidism (FIHPT) malady

Endocrine, Cancer, Genetic categories

Summaries for Primary Hyperparathyroidism

Sources:
43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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: Primary Hyperparathyroidism, also known as familial benign hypercalcemia, is related to adenoma and hypercalcemia. An important gene associated with Primary Hyperparathyroidism is MEN1 (multiple endocrine neoplasia I), and among its related pathways are Osteoblast Signaling and Development Hedgehog and PTH signaling pathways in bone and cartilage development. The compounds pge2 and deoxypyridinoline have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, whole blood and thymus, and related mouse phenotypes are endocrine/exocrine gland and homeostasis/metabolism.

Wikipedia:64 Primary hyperparathyroidism causes hypercalcemia (elevated blood calcium levels) through the excessive... more...

Description from OMIM:47 145000,610071

Aliases & Classifications for Primary Hyperparathyroidism

Sources:
8Disease Ontology, 22GTR, 61UMLS, 9diseasecard, 49Orphanet, 43NIH Rare Diseases, 45Novoseek, 35MeSH, 27ICD9CM, 57SNOMED-CT, 40NCIt, 47OMIM, 26ICD10 via Orphanet, 25ICD10
See all sources

Classifications:

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


Aliases & Descriptions:

primary hyperparathyroidism 8
familial benign hypercalcemia 8 22 61
hyperparathyroidism, primary 43 61
hyperparathyroidism, familial primary 9
familial isolated hyperparathyroidism 49
familial primary hyperparathyroidism 8
hypercalcemia, familial benign 45
parathyroid adenoma, familial 61
familial parathyroid adenoma 49
hyperparathyroidism primary 45
primary hyperthyroidism 43
fihpt 49


External Ids:

Disease Ontology8 DOID:11202
MeSH35 D049950
ICD9CM27 252.01
NCIt40 C48280
ICD10 via Orphanet26 E21.0
ICD1025 E21.0, E21.3

Related Diseases for Primary Hyperparathyroidism

Sources:
17GeneCards, 18GeneDecks
See all sources

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 211)
idRelated DiseaseScoreTop Affiliating Genes
1adenoma31.4GCM2, CALCA, CASR, GAST, MEN1, NR1I3
2hypercalcemia31.2CDC73, CHGA, NR1I3, MEN1, GAST, CASR
3multiple endocrine neoplasia31.0CALCA, GAST, MEN1, CHGA, CDC73, RET
4parathyroid carcinoma30.9CASR, MEN1, CDC73, PTH
5osteitis fibrosa30.9BGLAP, CASR, PTH, ALPP
6familial isolated hyperparathyroidism30.7CDC73, MEN1
7hyperparathyroidism, neonatal30.7NR1I3, CASR
8osteomalacia30.7BGLAP, ALPP, PTH, PTH1R, FGF23, CASR
9papillary carcinoma30.6RET, CHGA, CALCA
10osteoporosis30.6GCM2, BGLAP, ALPP, PTH, PTH1R, FGF23
11thyroid cancer30.6CALCA, CASR, RET
12pheochromocytoma30.6RET, CHGA, MEN1, CALCA
13osteoporosis, postmenopausal30.4BGLAP, CALCA, PTH
14fibrous dysplasia30.3BGLAP, FGF23, ALPP
15zollinger-ellison syndrome30.3GAST, MEN1, CHGA
16thyroiditis30.2CALCA
17acromegaly30.2BGLAP, MEN1
18mccune albright syndrome30.2FGF23
19insulin resistance30.2MIP
20nephrolithiasis30.2CASR, NR1I3, FGF23, SLC26A6, PTH
21rickets30.2BGLAP, CASR, PTH, ALPP
22glucagonoma30.2GAST, MEN1, CHGA
23hyperparathyroidism-jaw tumor syndrome30.2CDC73
24graves' disease30.2BGLAP, CASR, FGF23
25insulinoma30.2CALCA, CASR, GAST, MEN1, CHGA
26hypoparathyroidism30.2ALPP, PTH, PTH1R, FGF23, RET, NR1I3
27cholelithiasis30.2ALPP
28uremia29.9CASR, MEN1, NR1I3, PTH
29hypophosphatemia29.9BGLAP, CALCA, FGF23, PTH, ALPP
30renal osteodystrophy29.9ALPP, PTH, FGF23, CASR, CALCA, BGLAP
31adenocarcinoma29.9CASR, GAST, MEN1, CHGA, SPINK1
32atrophic gastritis29.9CHGA, MEN1, GAST
33thyroid medullary carcinoma29.9CALCA, CASR, GAST, MEN1, CHGA, RET
34carcinoid syndrome29.9CALCA, GAST, MEN1, CHGA, RET
35astrocytoma29.9NR1I3, CASR
36autosomal dominant disease29.9CALCA, RET, PTH
37cystic fibrosis29.9MIP, SLC26A6, SPINK1
38prolactinoma29.9CHGA, MEN1
39duodenal ulcer29.9GAST
40ossifying fibroma29.9CDC73
41nephrogenic diabetes insipidus29.9CASR, MIP
42pernicious anemia29.9GAST
43familial hypocalciuric hypercalcemia10.6
44hyperparathyroidism, neonatal severe primary10.5
45thyroid adenoma10.4
46acute pancreatitis10.3
47multinodular goiter10.3
48calciphylaxis10.3
49bone fracture10.3
50neurofibromatosis10.3

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



Diseases related to primary hyperparathyroidism

Clinical Features for Primary Hyperparathyroidism

Sources:
47OMIM
See all sources

Clinical features from OMIM:

145000,610071

Drugs & Therapeutics for Primary Hyperparathyroidism

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Primary Hyperparathyroidism

Drug clinical trials:

Search ClinicalTrials for Primary Hyperparathyroidism

Search NIH Clinical Center for Primary Hyperparathyroidism

Search CenterWatch for Primary Hyperparathyroidism

Genetic Tests for Primary Hyperparathyroidism

Sources:
22GTR
See all sources

Genetic tests related to Primary Hyperparathyroidism:

id Genetic test Affiliating Genes
1 Familial Benign Hypercalcemia22

Anatomical Context for Primary Hyperparathyroidism

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Primary Hyperparathyroidism:

33
Bone marrow, Whole blood, Thymus, Skeletal muscle, Colon, Kidney, Liver, Lung, Thyroid, Adrenal gland, Breast, T cells, B cells, Endothelial, Fetal liver, Fetal lung, Fetal thyroid, Pancreatic islet, Pituitary

Animal Models for Primary Hyperparathyroidism or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Primary Hyperparathyroidism

Sources:
51PubMed
See all sources

Articles related to Primary Hyperparathyroidism:

(show top 50)    (show all 896)
idTitleAuthorsYear
1
Incidence and prevalence of primary hyperparathyroidism in a racially mixed population. (23418315)
2013
2
Feasibility of video-assisted bilateral neck exploration for patients with primary hyperparathyroidism and failed or discordant localization studies. (23179320)
2013
3
The important players in primary hyperparathyroidism. (23848552)
2013
4
Coexisting primary hyperparathyroidism and sarcoidosis cause increased angiotensin-converting enzyme and decreased parathyroid hormone and phosphate levels. (23493435)
2013
5
Rapid intraoperative determination of intact parathyroid hormone during surgery for primary hyperparathyroidism. Experience at our center. (23910639)
2013
6
Dual-energy 4-phase CT scan in primary hyperparathyroidism. (23788604)
2013
7
Brown tumor and staghorn calculi in primary hyperparathyroidism. (23791214)
2013
8
Bronchial carcinoid and primary hyperparathyroidism. (24057295)
2013
9
Serial pathologic fractures of five long bones on four separate occasions in a patient with primary hyperparathyroidism, challenges of management in a developing country: a case report. (24106573)
2013
10
Simultaneous presentation of giant pheochromocytoma, primary hyperparathyroidism, and mixed-medullary-papillary thyroid cancer in MEN 2A. (23961501)
2013
11
Primary hyperparathyroidism in India: A cocktail of contemporary and classical presentations: Lesson from 47 cases. (24251161)
2013
12
Arterial Hypertension, Metabolic Syndrome and Subclinical Cardiovascular Organ Damage in Patients with Asymptomatic Primary Hyperparathyroidism before and after Parathyroidectomy: Preliminary Results. (22719761)
2012
13
Primary hyperparathyroidism: imaging to pathology. (23230541)
2012
14
Intraoperative parathyroid hormone assay during focused parathyroidectomy for primary hyperparathyroidism: is it really mandatory? (23022758)
2012
15
Synchronous papillary thyroid carcinoma and primary hyperparathyroidism: diagnosis and management issues. (23299031)
2012
16
Calciphylaxis: an uncommon manifestation of primary hyperparathyroidism. A case report. (23340152)
2012
17
AME position statement: primary hyperparathyroidism in clinical practice. (22824948)
2012
18
Normocalcemic primary hyperparathyroidism-characteristics and clinical significance of an emerging entity. (22173046)
2012
19
Thyroid cancer detection with dual-isotope parathyroid scintigraphy in primary hyperparathyroidism. (22395991)
2012
20
Intraoperative parathyroid hormone monitoring in patients with recognized multiglandular primary hyperparathyroidism. (21153816)
2011
21
Nephrolithiasis and renal calcifications in primary hyperparathyroidism. (21646371)
2011
22
Mutational analysis of GCMB, a parathyroid-specific transcription factor, in parathyroid adenoma of primary hyperparathyroidism. (21642377)
2011
23
The natural history of treated and untreated primary hyperparathyroidism: the parathyroid epidemiology and audit research study. (21266486)
2011
24
An unusual presentation of primary hyperparathyroidism: pathological fracture. (23198216)
2011
25
Molecular alterations in sporadic primary hyperparathyroidism. (22567348)
2011
26
Financial and clinical implications of low-energy CT combined with 99m Technetium-sestamibi SPECT for primary hyperparathyroidism. (21409487)
2011
27
Clinical implications of brown tumor uptake in whole-body 99mTc-sestamibi scans for primary hyperparathyroidism. (21613966)
2011
28
Accuracy of 4-dimensional computed tomography in poorly localized patients with primary hyperparathyroidism. (21134543)
2010
29
Expression and somatic mutations of SDHAF2 (SDH5), a novel endocrine tumor suppressor gene in parathyroid tumors of primary hyperparathyroidism. (20972721)
2010
30
Mutation analysis of MEN1, HRPT2, CASR, CDKN1B, and AIP genes in primary hyperparathyroidism patients with features of genetic predisposition. (19474519)
2009
31
Giant primary synchronously bilateral mesenteric dedifferentiated liposarcoma with hyperparathyroidism, hyperthyroidism, type-2 diabetes mellitus and hypertension. (19757707)
2009
32
Primary hyperparathyroidism due to parathyroid carcinoma associated with pulmonary embolism. (22964103)
2008
33
Recurrent acute pancreatitis in a child with primary hyperparathyroidism. (19189694)
2008
34
Coexisting primary hyperparathyroidism and sarcoidosis in a patient with severe hypercalcemia. (18385529)
2008
35
Primary hyperparathyroidism due to parathyroid adenoma. (17268723)
2007
36
Water-clear cell parathyroid adenoma causing primary hyperparathyroidism in a patient with neurofibromatosis type 1: report of a case. (17879040)
2007
37
Primary hyperparathyroidism. Update on pathophysiology, clinical presentation and surgical treatment. (15658669)
2004
38
Persistent elevated serum levels of intact parathyroid hormone after reoperation for primary hyperparathyroidism and after pamidronate therapy. (14696811)
2003
39
A strategy for the management of elderly women with primary hyperparathyroidism: a comparison of etidronate therapy with parathyroidectomy. (11867933)
2002
40
Undefined complications of parathyroid adenoma, parathyroid hyperplasia (primary hyperparathyroidism), thyroid follicular adenoma, thyroid papillary carcinoma, temporal astrocytoma, cerebellar meningioma, and hemangioma of external auditory meatus and oral papilloma. (11030206)
2000
41
Clinical dilemma: A parathyroid adenoma cannot be found during neck exploration of a patient with presumed primary hyperparathyroidism. How should this problem be tackled? (10383569)
1999
42
Primary hyperparathyroidism caused by a functional parathyroid adenoma in a horse. (9638193)
1998
43
The measurement of urinary amino-terminal telopeptides of type I collagen to monitor bone resorption in patients with primary hyperparathyroidism. (9413811)
1997
44
Vitamin D receptor polymorphisms correlate to parathyroid cell function in primary hyperparathyroidism. (9177380)
1997
45
A case of multiple endocrine neoplasia type I with primary hyperparathyroidism, prolactin secreting pituitary microadenoma and gastrin secreting duodenal carcinoid]. (9465604)
1997
46
Changes in bone mass and metabolism after surgery for primary hyperparathyroidism. (7621568)
1995
47
Familial isolated primary hyperparathyroidism. (7955451)
1994
48
Familial hypocalciuric hypercalcemia involving four members of a kindred including a girl with severe neonatal primary hyperparathyroidism. (6843519)
1983
49
Maximal urine-concentrating ability: familial hypocalciuric hypercalcemia versus typical primary hyperparathyroidism. (6259192)
1981
50
Nephrocalcinosis and hypertension in juvenile primary hyperparathyroidism. (4683955)
1973

Genetic Variations for Primary Hyperparathyroidism

Expression for genes affiliated with Primary Hyperparathyroidism

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Primary Hyperparathyroidism

Search GEO for disease gene expression data for Primary Hyperparathyroidism.

Pathways for genes affiliated with Primary Hyperparathyroidism

Sources:
38NCBI BioSystems Database, 12EMD Millipore, 54Reactome, 30KEGG
See all sources

Pathways related to Primary Hyperparathyroidism according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.4PTH, PTH1R, FGF23
2
Development Hedgehog and PTH signaling pathways in bone and cartilage development
Hide members
10.4BGLAP, PTH1R, PTH
3
Transcription Role of VDR in regulation of genes involved in osteoporosis
Hide members
10.4PTH, PTH1R, CALCA, BGLAP
4
Hide members
10.4PTH, PTH1R, CASR, CALCA, CCL27
5
Hide members
10.3CCL27, CALCA, CASR, GAST, MEN1, FGF23

Compounds for genes affiliated with Primary Hyperparathyroidism

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 29IUPHAR, 60Tocris Bioscience, 24HMDB, 2BitterDB
See all sources

Compounds related to Primary Hyperparathyroidism according to GeneCards/GeneDecks:

(show top 50)    (show all 85)
idCompoundScoreTop Affiliating Genes
1pge24510.8CCL27, PTH1R
2deoxypyridinoline4510.8CCL27, PTH, CALCA, BGLAP
3calcium carbonate4510.8ALPP, BGLAP, CALCA, PTH
4pamidronate45 50 1112.8PTH, ALPP, CALCA, BGLAP, CASR
5sevelamer4510.8BGLAP, CASR, FGF23
6ipriflavone4510.8ALPP, CALCA, BGLAP
7calcium gluconate4510.8CALCA, GAST, BGLAP
825-hydroxyvitamin d4510.8BGLAP, ALPP, FGF23, PTH, CASR, CALCA
9fluoride4510.8CHGA, BGLAP, SPINK1, ALPP, CALCA
1022-oxacalcitriol4510.8ALPP, BGLAP, CASR
11alendronate45 50 1112.8BGLAP, PTH, ALPP, CALCA
12cinacalcet45 29 1112.8NR1I3, CASR, CALCA
13teriparatide45 1111.8PTH1R, CALCA, BGLAP
14alfacalcidol45 60 1112.8NR1I3, BGLAP, CALCA
15etidronate4510.8BGLAP, ALPP, CALCA
16phosphorus4510.7CASR, ALPP, PTH, PTH1R, FGF23, NR1I3
17hydroxyapatite4510.7FGF23, CASR, CCL27, BGLAP, ALPP
181,25 dihydroxy vitamin d34510.7ALPP, PTH, FGF23, PTH1R, CASR, CALCA
1924,25-dihydroxyvitamin d34510.7ALPP, BGLAP, CALCA
20ribonucleic acid4510.7PTH, CASR, NR1I3, PTH1R, RET, CHGA
21calcitriol45 60 11 2413.7CASR, GAST, NR1I3, FGF23, PTH1R, PTH
22cyclic amp45 2411.7RET, MIP, PTH, CALCA, CASR, NR1I3
23inositol 1,4,5 trisphosphate4510.7CASR, CHGA, PTH1R, PTH, NR1I3
24hydroxyproline45 11 2412.7PTH, ALPP, CALCA, BGLAP
25creatinine4510.7ALPP, SPINK1, PTH, FGF23, CHGA, GAST
26tartrate4510.7ALPP, CALCA, BGLAP
27octreotide45 60 29 1113.7CALCA, FGF23, GAST, CHGA
28thyroxine45 2411.7PTH, ALPP, BGLAP, CALCA, GAST
29vitamin k24510.7BGLAP, ALPP, CALCA
30arginine4510.7BGLAP, CASR, NR1I3, ALPP, PTH, FGF23
31vegf4510.7RET, BGLAP, CALCA, GAST, MEN1, CHGA
32serine4510.7SPINK1, FGF23, NR1I3, CASR, BGLAP, PTH1R
33vitamin d4510.7ALPP, PTH, PTH1R, FGF23, SOST, CASR
34testosterone45 60 11 2413.7CHGA, ALPP, PTH, RET, NR1I3, CALCA
35dexamethasone45 50 29 1113.7ALPP, PTH, BGLAP, CCL27, GAST, NR1I3
36sodium fluoride4510.7BGLAP, CALCA, ALPP
37neomycin4510.7CASR, GAST, NR1I3, ALPP
38risedronate45 60 50 29 1114.6BGLAP, CALCA, ALPP
39alanine4510.6CCL27, BGLAP, ALPP, NR1I3, CASR, GAST
40thiazide4510.6CALCA, BGLAP, CASR
41thymidine45 2411.6ALPP, NR1I3, MEN1, GAST, PTH, PTH1R
42calcium45 50 11 2413.5MEN1, GAST, NR1I3, BGLAP, CHGA, MIP
43pyridinoline4510.5BGLAP, CALCA, ALPP
44glutamate4510.5NR1I3, CALCA, CASR, GAST, ALPP, CHGA
45tyrosine4510.4MIP, RET, CHGA, MEN1, GAST, CASR
46l-amino acid4510.4CASR, CHGA, NR1I3
47adenylate4510.4CALCA, CASR, GAST, PTH1R, PTH, CHGA
48nifedipine45 50 29 1113.4BGLAP, GAST, CHGA, ALPP
49hydrocortisone45 2 60 1113.3ALPP, GAST, CALCA, BGLAP
50zoledronic acid4510.1BGLAP, CALCA, ALPP

GO Terms for genes affiliated with Primary Hyperparathyroidism

Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:00561510.3PTH, FGF23, SOST, CALCA, CCL27, BGLAP
2extracellular regionGO:00557610.2SPINK1, FGF23, CHGA, GAST, CALCA, CCL27
3membrane-bounded vesicleGO:03198810.1BGLAP, SLC26A6

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1osteoblast developmentGO:00207610.6PTH1R, MEN1, BGLAP
2adenylate cyclase-activating G-protein coupled receptor signaling pathwayGO:00718910.5PTH, PTH1R, CALCA
3cellular phosphate ion homeostasisGO:03064310.5FGF23, GCM2
4cellular calcium ion homeostasisGO:00687410.4GCM2, CASR, PTH
5response to painGO:04826510.4RET, CALCA
6G-protein coupled receptor signaling pathwayGO:00718610.3PTH, PTH1R, GAST, CASR
7negative regulation of ossificationGO:03027910.1SOST, CALCA

Molecular functions related to Primary Hyperparathyroidism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1hormone activityGO:00517910.4PTH, GAST, CALCA

Products for genes affiliated with Primary Hyperparathyroidism

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Primary Hyperparathyroidism

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet