MCID: HYP311
MIFTS: 37

Hyperparathyroidism 3

Categories: Rare diseases, Endocrine diseases, Genetic diseases

Aliases & Classifications for Hyperparathyroidism 3

MalaCards integrated aliases for Hyperparathyroidism 3:

Name: Hyperparathyroidism 3 53 13 69
Familial Isolated Hyperparathyroidism 49 24 55
Hyperparathyroidism 1 49 24 69
Fihp 49 24
Hyperparathyroidism, Familial Isolated Primary 49
Hyperparathyroidism, Familial Isolated 53
Familial Primary Hyperparathyroidism 49
Familial Hyperparathyroidism 69
Hrpt1 49
Hrpt3 53
Fihpt 55

Characteristics:

Orphanet epidemiological data:

55
familial isolated hyperparathyroidism
Inheritance: Autosomal dominant; Age of onset: Adult;

Classifications:

Orphanet: 55  
Rare endocrine diseases


Summaries for Hyperparathyroidism 3

NIH Rare Diseases : 49 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). Last updated: 12/22/2014

MalaCards based summary : Hyperparathyroidism 3, also known as familial isolated hyperparathyroidism, is related to hyperparathyroidism 2 with jaw tumors and primary hyperparathyroidism, and has symptoms including abdominal symptom, osteopenia and renal insufficiency. 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 kidney and bone, and related phenotype is craniofacial.

Genetics Home Reference : 24 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:

55 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abdominal symptom 55 31 occasional (7.5%) Occasional (29-5%) HP:0011458
2 osteopenia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000938
3 renal insufficiency 55 31 occasional (7.5%) Occasional (29-5%) HP:0000083
4 hypophosphatemia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002148
5 hypercalciuria 55 31 hallmark (90%) Very frequent (99-80%) HP:0002150
6 nephrocalcinosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000121
7 parathyroid adenoma 55 31 hallmark (90%) Very frequent (99-80%) HP:0002897
8 elevated circulating parathyroid hormone level 55 31 hallmark (90%) Very frequent (99-80%) HP:0003165
9 chondrocalcinosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000934
10 generalized osteoporosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0040160
11 hyperphosphaturia 55 31 hallmark (90%) Very frequent (99-80%) HP:0003109
12 infantile hypercalcemia 55 31 hallmark (90%) Very frequent (99-80%) HP:0008250
13 primary hyperparathyroidism 55 31 hallmark (90%) Very frequent (99-80%) HP:0008200
14 hypercalcemia 55 Very frequent (99-80%)

MGI Mouse Phenotypes related to Hyperparathyroidism 3:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 8.8 MEN1 CDC73 GCM2

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:

38
Kidney, Bone

Publications for Hyperparathyroidism 3

Articles related to Hyperparathyroidism 3:

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

Variations for Hyperparathyroidism 3

ClinVar genetic disease variations for Hyperparathyroidism 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MEN1 NM_130803.2(MEN1): c.1365+1G> A single nucleotide variant Pathogenic rs863223311 GRCh38 Chromosome 11, 64805033: 64805033
2 CDC73 NM_024529.4(CDC73): c.237+1G> T single nucleotide variant Pathogenic rs794727303 GRCh37 Chromosome 1, 193094348: 193094348
3 CDC73 NM_024529.4(CDC73): c.679_680insAG (p.Arg227Lysfs) insertion Pathogenic rs80356649 GRCh37 Chromosome 1, 193111146: 193111147
4 CDC73 NM_024529.4(CDC73): c.191T> C (p.Leu64Pro) single nucleotide variant Pathogenic rs121434264 GRCh37 Chromosome 1, 193094301: 193094301
5 CDC73 NM_024529.4(CDC73): c.131+1G> A single nucleotide variant Pathogenic rs587776558 GRCh37 Chromosome 1, 193091462: 193091462

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 positive regulation of transcription by RNA polymerase II GO:0045944 9.33 CDC73 GCM2 MEN1
2 negative regulation of epithelial cell proliferation GO:0050680 8.96 CDC73 MEN1
3 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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