FIHPT
MCID: PRM005
MIFTS: 72

Primary Hyperparathyroidism (FIHPT) malady

Endocrine diseases, Cancer diseases, Genetic diseases categories

Summaries for Primary Hyperparathyroidism

About this section
Sources:
42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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: Primary Hyperparathyroidism, also known as familial benign hypercalcemia, is related to hyperparathyroidism and adenoma. 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, thyroid and testes, and related mouse phenotypes are endocrine/exocrine gland and digestive/alimentary.

Wikipedia:63 Primary hyperparathyroidism causes hypercalcemia (elevated blood calcium levels) through the excessive... more...

Description from OMIM:46 145000,610071

Aliases & Classifications for Primary Hyperparathyroidism

About this section
Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 22GTR, 44Novoseek, 48Orphanet, 60UMLS, 34MeSH, 27ICD9CM, 56SNOMED-CT, 39NCIt, 57SNOMED-CT via Orphanet, 46OMIM, 26ICD10 via Orphanet, 25ICD10
See all sources

Classifications:

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


Aliases & Descriptions:

primary hyperparathyroidism 8
familial benign hypercalcemia 8 22 60
hyperparathyroidism, primary 42 60
familial isolated hyperparathyroidism 48
hyperparathyroidism, familial primary 9
familial primary hyperparathyroidism 8
hypercalcemia, familial benign 44
parathyroid adenoma, familial 60
familial parathyroid adenoma 48
hyperparathyroidism primary 44
primary hyperthyroidism 42
fihpt 48


External Ids:

Disease Ontology8 DOID:11202
MeSH34 D049950
ICD9CM27 252.01
NCIt39 C48280
SNOMED-CT via Orphanet57 237653008
ICD10 via Orphanet26 E21.0
ICD1025 E21.0, E21.3

Related Diseases for Primary Hyperparathyroidism

About this section
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 236)
idRelated DiseaseScoreTop Affiliating Genes
1hyperparathyroidism32.1ALPP, PTH, SLPI, FGF23, RET, CDC73
2adenoma31.3GAST, CASR, CALCA, GCM2, MEN1, NR1I3
3parathyroid adenoma31.3MEN1, CASR, CALCA, CHGA, CDC73, ALPP
4hypercalcemia31.2CHGA, NR1I3, MEN1, GAST, CASR, CALCA
5thyroiditis31.0CALCA
6parathyroid carcinoma30.9CASR, MEN1, CDC73, PTH
7osteitis fibrosa30.8ALPP, PTH, CASR, BGLAP
8pancreatitis30.7ALPP, SPINK1, CASR
9goiter30.7PTH, RET, CALCA, BGLAP
10osteomalacia30.6CASR, CALCA, BGLAP, FGF23, SLPI, PTH1R
11papillary carcinoma30.6CALCA, CHGA, RET
12papillary thyroid carcinoma30.6CALCA, MEN1, RET
13osteoporosis30.5ALPP, PTH, PTH1R, SLPI, FGF23, NR1I3
14thyroid cancer30.5CALCA, CASR, RET
15pheochromocytoma30.5RET, CHGA, MEN1, CALCA
16hypertension30.5PTH, CALCA
17hyperthyroidism30.4BGLAP, FGF23, SLPI, PTH, ALPP
18acute pancreatitis30.4SPINK1
19osteosclerosis30.4SOST, PTH, ALPP
20giant cell tumor30.4BGLAP, CALCA, FGF23
21hyperparathyroidism-jaw tumor syndrome30.3CDC73
22fibrous dysplasia30.3BGLAP, FGF23, ALPP
23familial isolated hyperparathyroidism30.3MEN1, CDC73
24zollinger-ellison syndrome30.3CHGA, MEN1, GAST
25paget's disease of bone30.3BGLAP, CALCA
26breast cancer30.3CALCA, CASR, MEN1, NR1I3, PTH1R, PTH
27hyperparathyroidism, neonatal30.3CASR, NR1I3
28acromegaly30.1MEN1, BGLAP
29mccune albright syndrome30.1FGF23
30myeloma30.1ALPP, BGLAP
31nephrolithiasis30.1CASR, NR1I3, FGF23, SLC26A6, PTH
32rickets30.1ALPP, PTH, CASR, BGLAP
33graves' disease30.1FGF23, CASR, BGLAP
34pseudohypoparathyroidism30.1BGLAP, CALCA, PTH1R, PTH
35insulinoma30.1CALCA, CASR, GAST, MEN1, CHGA
36cholelithiasis30.1ALPP
37hypoparathyroidism30.1ALPP, PTH, PTH1R, FGF23, RET, NR1I3
38duodenitis30.1GAST
39peritonitis29.9SLPI
40hypothyroidism29.9PTH, CASR
41uremia29.9CASR, MEN1, NR1I3, PTH
42obesity29.9NR1I3, MIP
43lung cancer29.9CHGA
44hypophosphatemia29.9FGF23, CALCA, BGLAP, PTH, ALPP
45hemangioma29.9RET, MEN1
46von hippel-lindau disease29.9RET, MEN1
47pituitary adenoma29.9CASR, MEN1, CHGA, RET
48adenocarcinoma29.9CASR, GAST, MEN1, CHGA, SPINK1
49liver cirrhosis29.9SLPI, MIP
50thyroid medullary carcinoma29.9CALCA, CASR, GAST, MEN1, CHGA, RET

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



Diseases related to primary hyperparathyroidism

Clinical Features for Primary Hyperparathyroidism

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

145000,610071

Drugs & Therapeutics for Primary Hyperparathyroidism

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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

About this section
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

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Primary Hyperparathyroidism:

32
Bone, Thyroid, Testes, Kidney, Endothelial, Breast, Pituitary, Lung, Thymus, Liver, Colon, Pancreatic islet

Animal Models for Primary Hyperparathyroidism or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Primary Hyperparathyroidism:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537910.5GCM2, GAST, MEN1, CDC73, RET, SLC26A6
2MP:000538110.4CASR, GAST, MEN1, CDC73, RET, FGF23
3MP:000537610.3SPINK1, GCM2, CALCA, CASR, SOST, GAST
4MP:000538010.3CALCA, MEN1, CDC73, RET, PTH1R, ALPP
5MP:001076810.3NR1I3, MEN1, GAST, CASR, CALCA, GCM2
6MP:000536710.3GCM2, CALCA, CASR, CHGA, CDC73, RET
7MP:000537810.3CHGA, NR1I3, MEN1, SOST, CASR, CDC73
8MP:000538710.2CASR, GAST, MEN1, CDC73, RET, FGF23
9MP:000539010.1FGF23, GCM2

Publications for Primary Hyperparathyroidism

About this section
Sources:
50PubMed
See all sources

Articles related to Primary Hyperparathyroidism:

(show top 50)    (show all 896)
idTitleAuthorsYear
1
Epidemiology of Primary Hyperparathyroidism and its Non-classical Manifestations in the City of Recife, Brazil. (24348080)
2013
2
Predictors of Recurrence in Primary Hyperparathyroidism: An Analysis of 1386 Cases. (24263316)
2013
3
Evaluation of parathyroid levels and bone densitometry after cinacalcet treatment in severe primary hyperparathyroidism. (24126554)
2013
4
When would I use medical therapies for the treatment of primary hyperparathyroidism? (24111629)
2013
5
Resolution of hypertension and secondary aldosteronism after surgical treatment of primary hyperparathyroidism. (23666430)
2013
6
Recurrent urolithiasis following parathyroidectomy for primary hyperparathyroidism. (24112502)
2013
7
Pseudoarthrosis and fracture: interaction between severe vitamin D deficiency and primary hyperparathyroidism. (24276109)
2013
8
Primary hyperparathyroidism-related brown tumors mimicking other giant cell-containing skeletal tumors: role of correlative imaging in diagnosis. (23385541)
2013
9
A higher calcium intake reduces risk of primary hyperparathyroidism in women. (24422042)
2013
10
New insights into the effects of primary hyperparathyroidism on the cortical and trabecular compartments of bone. (23541782)
2013
11
Primary hyperparathyroidism in adolescents: the same but different. (23184264)
2013
12
Primary hyperparathyroidism is associated with abnormal cortical and trabecular microstructure and reduced bone stiffness in postmenopausal women. (23225022)
2013
13
A comparative study of pre-operative imaging methods in patients with primary hyperparathyroidism: ultrasonography, 99mTc sestamibi, single photon emission computed tomography, and magnetic resonance imaging. (21623148)
2012
14
Predictive factors for postoperative severe hypocalcaemia after parathyroidectomy for primary hyperparathyroidism. (22524777)
2012
15
Hypercalcaemic crisis due to primary hyperparathyroidism - a systematic literature review and case report. (23339009)
2012
16
Primary hyperparathyroidism associated with vitamin D toxicity in a patient with severe osteoporosis receiving teriparatide. (23087890)
2012
17
Frequent germ-line mutations of the MEN1, CASR, and HRPT2/CDC73 genes in young patients with clinically non-familial primary hyperparathyroidism. (22187299)
2012
18
Parathyroidectomy improves bone geometry and microarchitecture in female patients with primary hyperparathyroidism: a one-year prospective controlled study using high-resolution peripheral quantitative computed tomography. (22228118)
2012
19
Sestamibi imaging for primary hyperparathyroidism: the impact of surgeon interpretation and radiologist volume. (22868920)
2012
20
Acute kidney injury from bilateral ureteral calcium stones in the setting of primary hyperparathyroidism. (22100476)
2012
21
Effect of renal function on skeletal health in primary hyperparathyroidism. (22399521)
2012
22
Increased calcium intake may reduce risk of primary hyperparathyroidism. (23080544)
2012
23
The importance of measuring ionized calcium in characterizing calcium status and diagnosing primary hyperparathyroidism. (22745247)
2012
24
Differences in metabolic urinary abnormalities in stone forming and nonstone forming patients with primary hyperparathyroidism. (21893327)
2012
25
Lithium use and primary hyperparathyroidism. (21247849)
2011
26
Significance of elevated parathyroid hormone after parathyroidectomy for primary hyperparathyroidism. (21247842)
2011
27
Patients with surgically cured primary hyperparathyroidism have a reduced quality of life compared with population-based healthy sex-, age-, and season-matched controls. (21862666)
2011
28
Tc-99m-MIBI-negative parathyroid adenoma in primary hyperparathyroidism detected by C-11-methionine PET/CT after previous thyroid surgery. (22064100)
2011
29
Vitamin D treatment in primary hyperparathyroidism. (21524245)
2011
30
Diagnosis and treatment of primary hyperparathyroidism in a bobcat (Lynx rufus). (22950324)
2011
31
Solitary parathyroid adenoma: a rare cause of primary hyperparathyroidism in children. (17473702)
2007
32
The association of neurofibromatosis, bilateral pheochromocytoma and primary hyperparathyroidism. (17647146)
2007
33
Normocalcemic primary hyperparathyroidism in patients with recurrent kidney stones: pathological analysis of parathyroid glands. (16670929)
2006
34
A case of adrenocorticotropin-independent bilateral adrenal macronodular hyperplasia (AIMAH) with primary hyperparathyroidism (PHPT). (16543680)
2006
35
The effect of parathyroidectomy on bone fracture risk in patients with primary hyperparathyroidism. (16983032)
2006
36
If you see primary hyperparathyroidism in mothers with vitamin-D deficiency osteomalacia: think of tertiary. (15857004)
2005
37
Primary hyperparathyroidism: can parathyroid carcinoma be anticipated on clinical and biochemical grounds? Report of nine cases and review of the literature. (15889214)
2005
38
Fibroblast growth factor (FGF)-23 in patients with primary hyperparathyroidism. (15248822)
2004
39
Slipped capital femoral epiphysis associated with primary hyperparathyroidism and severe hypercalcemia. (12862348)
2003
40
Oral alendronate increases bone mineral density in postmenopausal women with primary hyperparathyroidism. (12574184)
2003
41
Bisphosphonates and primary hyperparathyroidism. (12412793)
2002
42
You're the flight surgeon. Parathyroid adenoma with primary hyperparathyroidism, recurrent renal calculi, and brown tumor. (9773908)
1998
43
Remission of primary hyperparathyroidism due to spontaneous infarction of a parathyroid adenoma. Case report and review of the literature. (9854603)
1998
44
Vitamin D receptor gene polymorphism and parathyroid calcium sensor protein (CAS/gp330) expression in primary hyperparathyroidism. (9606285)
1998
45
Tumor-specific decreased expression of calcium sensing receptor messenger ribonucleic acid in sporadic primary hyperparathyroidism. (9329389)
1997
46
Primary hyperparathyroidism secondary to parathyroid carcinoma: report of a case. (8515201)
1993
47
Salmon calcitonin treatment by nasal spray in primary hyperparathyroidism. (1782100)
1991
48
Cerebellar hemangioblastoma and primary hyperparathyroidism. (2711311)
1989
49
Nephrocalcinosis, hypercalcemia, sarcoidosis or primary hyperparathyroidism? (3983783)
1985
50
PRIMARY HYPERPARATHYROIDISM WITH OSTEOSCLEROSIS AND CALCIFICATION IN ARTICULAR CARTILAGE. (14237435)
1964

Genetic Variations for Primary Hyperparathyroidism

About this section

Expression for genes affiliated with Primary Hyperparathyroidism

About this section
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

About this section
Sources:
37NCBI BioSystems Database, 12EMD Millipore, 53Reactome, 29KEGG
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

About this section
Sources:
44Novoseek, 49PharmGKB, 11DrugBank, 59Tocris Bioscience, 28IUPHAR, 24HMDB, 2BitterDB
See all sources

Compounds related to Primary Hyperparathyroidism according to GeneCards/GeneDecks:

(show top 50)    (show all 102)
idCompoundScoreTop Affiliating Genes
1pge24410.8PTH1R, CCL27
2deoxypyridinoline4410.8BGLAP, CCL27, CALCA, PTH
3pamidronate44 49 1112.8BGLAP, CALCA, CASR, PTH, ALPP
4ipriflavone4410.8BGLAP, CALCA, SLPI, ALPP
5alfacalcidol44 59 1112.8BGLAP, CALCA, NR1I3, SLPI
6calcium carbonate4410.8BGLAP, CALCA, PTH, ALPP
7etidronate4410.8BGLAP, CALCA, SLPI, ALPP
825-hydroxyvitamin d4410.8BGLAP, CALCA, CASR, FGF23, SLPI, PTH
9fluoride4410.7BGLAP, CALCA, CHGA, SLPI, SPINK1, ALPP
10sevelamer4410.7BGLAP, CASR, FGF23
11alendronate44 49 1112.7BGLAP, CALCA, SLPI, PTH, ALPP
12vitamin k24410.7BGLAP, CALCA, SLPI, ALPP
13calcium gluconate4410.7BGLAP, CALCA, GAST
14tartrate4410.7BGLAP, CALCA, SLPI, ALPP
151,25 dihydroxy vitamin d34410.7BGLAP, CALCA, CASR, NR1I3, FGF23, PTH1R
16hydroxyapatite4410.7BGLAP, CCL27, CASR, FGF23, SLPI, ALPP
17risedronate44 59 49 28 1114.7BGLAP, CALCA, SLPI, ALPP
18hydroxyproline44 11 2412.7BGLAP, CALCA, SLPI, PTH, ALPP
19phosphorus4410.7BGLAP, CALCA, CASR, NR1I3, FGF23, SLPI
20pyridinoline4410.7BGLAP, CALCA, SLPI, ALPP
2122-oxacalcitriol4410.7BGLAP, CASR, ALPP
22zoledronic acid4410.7BGLAP, CALCA, SLPI, ALPP
23cinacalcet44 28 1112.7CALCA, CASR, NR1I3
24calcitriol44 59 11 2413.7FGF23, SLPI, PTH1R, PTH, ALPP, NR1I3
2524,25-dihydroxyvitamin d34410.7ALPP, CALCA, BGLAP
26cyclic amp44 2411.7CALCA, CASR, NR1I3, CHGA, MIP, RET
27teriparatide44 1111.7PTH1R, CALCA, BGLAP
28ribonucleic acid4410.7CASR, NR1I3, CHGA, RET, PTH1R, PTH
29serine4410.7BGLAP, CASR, MEN1, NR1I3, RET, FGF23
30creatinine4410.7BGLAP, CCL27, CASR, GAST, CHGA, FGF23
31vegf4410.6BGLAP, CALCA, GAST, MEN1, CHGA, MIP
32hydrocortisone44 2 59 1113.6ALPP, SLPI, GAST, CALCA, BGLAP
33testosterone44 59 11 2413.6BGLAP, CALCA, GAST, NR1I3, CHGA, RET
34arginine4410.6BGLAP, CASR, NR1I3, CHGA, MIP, RET
35dexamethasone44 49 28 1113.6BGLAP, CCL27, GAST, NR1I3, CHGA, MIP
36vitamin d4410.6BGLAP, CALCA, CASR, SOST, GAST, MEN1
37thymidine44 2411.6GAST, MEN1, NR1I3, SLPI, PTH1R, PTH
38thyroxine44 2411.6BGLAP, CALCA, GAST, PTH, ALPP
39inositol 1,4,5 trisphosphate4410.6CASR, NR1I3, CHGA, PTH1R, PTH
40alanine4410.6BGLAP, CCL27, CASR, GAST, NR1I3, RET
41alizarin4410.6ALPP, SLPI, BGLAP
42octreotide44 59 28 1113.5CALCA, GAST, CHGA, FGF23
43calcium44 49 11 2413.5ALPP, MEN1, NR1I3, CHGA, MIP, RET
44tyrosine4410.5CASR, GAST, MEN1, NR1I3, CHGA, MIP
45procollagen4410.4ALPP
46cysteine4410.4CASR, SOST, CHGA, MIP, RET, SLPI
47cyclosporin a44 28 5912.4BGLAP, CALCA, CASR, NR1I3, SLPI, ALPP
48neomycin4410.4ALPP, NR1I3, GAST, CASR
49sodium fluoride4410.3BGLAP, CALCA, ALPP
50hydrogen44 2411.0PTH1R, SLPI, MIP, CHGA, GAST, CASR

GO Terms for genes affiliated with Primary Hyperparathyroidism

About this section
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, SLPI, FGF23, CHGA, GAST, CALCA
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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Primary Hyperparathyroidism

About this section
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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet