MCID: HYP311
MIFTS: 40

Hyperparathyroidism 3

Categories: Rare diseases, Endocrine diseases, Genetic diseases

Aliases & Classifications for Hyperparathyroidism 3

MalaCards integrated aliases for Hyperparathyroidism 3:

Name: Hyperparathyroidism 3 57 13 73
Familial Isolated Hyperparathyroidism 53 25 59
Hyperparathyroidism 1 53 25 73
Fihp 53 25
Hyperparathyroidism, Familial Isolated Primary 53
Hyperparathyroidism, Familial Isolated 57
Familial Primary Hyperparathyroidism 53
Familial Hyperparathyroidism 73
Hrpt1 53
Hrpt3 57
Fihpt 59

Characteristics:

Orphanet epidemiological data:

59
familial isolated hyperparathyroidism
Inheritance: Autosomal dominant; Age of onset: Adult;

Classifications:

Orphanet: 59  
Rare endocrine diseases


Summaries for Hyperparathyroidism 3

NIH Rare Diseases : 53 Familial isolated hyperparathyroidism (FIHP) is an inherited form of primary hyperparathyroidism that is not associated with other features. The age of diagnosis varies from childhood to adulthood. In FIHP, tumors involving the parathyroid glands cause the production and release of excess parathyroid hormone, which in turn causes increased calcium in the blood (hypercalcemia). The tumors are usually benign, but a cancerous tumor can develop in rare cases. Abnormal levels of calcium cause many of the symptoms of FIHP, including kidney stones, nausea, vomiting, high blood pressure (hypertension), weakness, and fatigue. Osteoporosis often also develops. FIHP may be caused by mutations in the MEN1, CDC73 (also known as the HRPT2 gene), or CASR genes and is typically inherited in an autosomal dominant manner. In some cases, the cause is unknown. Mutations in the MEN1 and CDC73 genes cause other conditions in which hyperparathyroidism is one of many features, but some people with mutations in these genes have only isolated hyperparathyroidism. FIHP can also represent an early stage of other syndromes. Treatment for FIHP often includes surgical removal of the affected gland(s).

MalaCards based summary : Hyperparathyroidism 3, also known as familial isolated hyperparathyroidism, is related to hyperparathyroidism 2 with jaw tumors and hyperparathyroidism 1. An important gene associated with Hyperparathyroidism 3 is MEN1 (Menin 1). The drugs Calcimimetic Agents and Calcium, Dietary have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and testes, and related phenotypes are renal insufficiency and nephrocalcinosis

Genetics Home Reference : 25 Familial isolated hyperparathyroidism is an inherited condition characterized by overactivity of the parathyroid glands (hyperparathyroidism). The four parathyroid glands are located in the neck, and they release a hormone called parathyroid hormone that regulates the amount of calcium in the blood. In familial isolated hyperparathyroidism, one or more overactive parathyroid glands release excess parathyroid hormone, which causes the levels of calcium in the blood to rise (hypercalcemia). Parathyroid hormone stimulates the removal of calcium from bone and the absorption of calcium from the diet, and the mineral is then released into the bloodstream.

Description from OMIM: 610071

Related Diseases for Hyperparathyroidism 3

Graphical network of the top 20 diseases related to Hyperparathyroidism 3:



Diseases related to Hyperparathyroidism 3

Symptoms & Phenotypes for Hyperparathyroidism 3

Clinical features from OMIM:

610071

Human phenotypes related to Hyperparathyroidism 3:

59 32 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 renal insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0000083
2 nephrocalcinosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000121
3 chondrocalcinosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000934
4 osteopenia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000938
5 hypophosphatemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002148
6 hypercalciuria 59 32 hallmark (90%) Very frequent (99-80%) HP:0002150
7 parathyroid adenoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0002897
8 hyperphosphaturia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003109
9 elevated circulating parathyroid hormone level 59 32 hallmark (90%) Very frequent (99-80%) HP:0003165
10 primary hyperparathyroidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0008200
11 infantile hypercalcemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008250
12 abdominal symptom 59 32 occasional (7.5%) Occasional (29-5%) HP:0011458
13 generalized osteoporosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0040160
14 hypercalcemia 59 Very frequent (99-80%)

MGI Mouse Phenotypes related to Hyperparathyroidism 3:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 8.8 CDC73 GCM2 MEN1

Drugs & Therapeutics for Hyperparathyroidism 3

Drugs for Hyperparathyroidism 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Calcimimetic Agents Phase 3
2 Calcium, Dietary Phase 3
3 Cinacalcet Hydrochloride Phase 3
4 Hormone Antagonists Phase 3
5 Hormones Phase 3
6 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Cinacalcet to Treat Familial Primary Hyperparathyroidism Completed NCT00325104 Phase 3
2 Informed Consent for Whole Genome Sequencing: Ideals and Norms Referenced by Early Participants Completed NCT01369953

Search NIH Clinical Center for Hyperparathyroidism 3

Genetic Tests for Hyperparathyroidism 3

Anatomical Context for Hyperparathyroidism 3

MalaCards organs/tissues related to Hyperparathyroidism 3:

41
Bone, Kidney, Testes

Publications for Hyperparathyroidism 3

Articles related to Hyperparathyroidism 3:

(show all 26)
# Title Authors Year
1
Familial isolated hyperparathyroidism due to HRPT2 mutation. ( 29941370 )
2018
2
GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism. ( 27745835 )
2016
3
Genetic basis of familial isolated hyperparathyroidism: a case series and a narrative review of the literature. ( 24442824 )
2014
4
Familial isolated hyperparathyroidism: role of intra operative parathormone assay. ( 24082601 )
2012
5
HRPT2-related familial isolated hyperparathyroidism: could molecular studies direct the surgical approach? ( 19169472 )
2008
6
Parafibromin expression, single-gland involvement, and limited parathyroidectomy in familial isolated hyperparathyroidism. ( 18063086 )
2007
7
Mutations in genes causing human familial isolated hyperparathyroidism do not account for hyperparathyroidism in Keeshond dogs. ( 17158076 )
2007
8
Surveillance for early detection of aggressive parathyroid disease: carcinoma and atypical adenoma in familial isolated hyperparathyroidism associated with a germline HRPT2 mutation. ( 16995822 )
2006
9
Genetic analyses in familial isolated hyperparathyroidism: implication for clinical assessment and surgical management. ( 16430712 )
2006
10
Familial isolated hyperparathyroidism is linked to a 1.7 Mb region on chromosome 2p13.3-14. ( 16525030 )
2006
11
Genetic analyses in patients with familial isolated hyperparathyroidism and hyperparathyroidism-jaw tumour syndrome. ( 16817812 )
2006
12
Diagnosis of parathyroid tumors in familial isolated hyperparathyroidism with HRPT2 mutation: implications for cancer surveillance. ( 16720667 )
2006
13
Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome. ( 14715834 )
2004
14
Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications. ( 14985373 )
2004
15
Germline and de novo mutations in the HRPT2 tumour suppressor gene in familial isolated hyperparathyroidism (FIHP). ( 14985403 )
2004
16
Genetic analysis of the MEN1 gene and HPRT2 locus in two Italian kindreds with familial isolated hyperparathyroidism. ( 11966738 )
2002
17
Involvement of the MEN1 gene locus in familial isolated hyperparathyroidism. ( 12213668 )
2002
18
Familial isolated hyperparathyroidism: clinical and genetic characteristics of 36 kindreds. ( 11807402 )
2002
19
A case of familial isolated hyperparathyroidism with ectopic parathyroid cancer. ( 11603567 )
2001
20
[Familial isolated hyperparathyroidism: a report of two cases]. ( 10689881 )
2000
21
Familial isolated hyperparathyroidism as a variant of multiple endocrine neoplasia type 1 in a large Danish pedigree. ( 10634381 )
2000
22
Familial isolated hyperparathyroidism maps to the hyperparathyroidism-jaw tumor locus in 1q21-q32 in a subset of families. ( 9626148 )
1998
23
Familial isolated hyperparathyroidism due to multiple adenomas associated with ossifying jaw fibroma and multiple uterine adenomyomatous polyps. ( 9625369 )
1998
24
Mutation analysis of the MEN1 gene in multiple endocrine neoplasia type 1, familial acromegaly and familial isolated hyperparathyroidism. ( 9709921 )
1998
25
Familial isolated hyperparathyroidism caused by single adenoma: a distinct entity different from multiple endocrine neoplasia. ( 10395244 )
1998
26
Familial isolated hyperparathyroidism: a distinct genetic entity with an increased risk of parathyroid cancer. ( 7903311 )
1993

Variations for Hyperparathyroidism 3

Expression for Hyperparathyroidism 3

Search GEO for disease gene expression data for Hyperparathyroidism 3.

Pathways for Hyperparathyroidism 3

GO Terms for Hyperparathyroidism 3

Cellular components related to Hyperparathyroidism 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromosome, telomeric region GO:0000784 8.62 CDC73 MEN1

Biological processes related to Hyperparathyroidism 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 9.43 CDC73 GCM2 MEN1
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.33 CDC73 GCM2 MEN1
3 negative regulation of epithelial cell proliferation GO:0050680 8.96 CDC73 MEN1
4 beta-catenin-TCF complex assembly GO:1904837 8.62 CDC73 MEN1

Sources for Hyperparathyroidism 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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