FIHP
MCID: FML075
MIFTS: 46

Familial Isolated Hyperparathyroidism (FIHP)

Categories: Blood diseases, Bone diseases, Endocrine diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Familial Isolated Hyperparathyroidism

MalaCards integrated aliases for Familial Isolated Hyperparathyroidism:

Name: Familial Isolated Hyperparathyroidism 53 25 59 6
Hyperparathyroidism 1 53 25
Fihp 53 25
Hyperparathyroidism, Familial Isolated Primary 53
Familial Primary Hyperparathyroidism 53
Hrpt1 53
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 Familial Isolated Hyperparathyroidism

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 : Familial Isolated Hyperparathyroidism, also known as hyperparathyroidism 1, is related to hyperparathyroidism 1 and multiple endocrine neoplasia, type i. An important gene associated with Familial Isolated Hyperparathyroidism is CDC73 (Cell Division Cycle 73), and among its related pathways/superpathways is Parathyroid hormone synthesis, secretion and action. The drugs Calcium, Dietary and Cinacalcet Hydrochloride have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and thyroid, and related phenotypes are osteopenia and renal insufficiency

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.

Related Diseases for Familial Isolated Hyperparathyroidism

Diseases related to Familial Isolated Hyperparathyroidism via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 hyperparathyroidism 1 32.2 CDC73 MEN1
2 multiple endocrine neoplasia, type i 30.8 CASR CDC73 GAST JUND MEN1 PTH
3 multiple endocrine neoplasia 30.3 MEN1 RET
4 adenoma 29.8 CASR CDC73 MEN1 RET
5 hyperparathyroidism 29.7 CASR CDC73 GAST GCM2 MEN1 PTH
6 hyperparathyroidism 2 with jaw tumors 29.6 CASR CDC73 MEN1 RET
7 parathyroid carcinoma 29.2 CASR CDC73 MEN1 PTH RET
8 primary hyperparathyroidism 29.1 CASR CDC73 GAST GCM2 MEN1 PTH
9 hyperparathyroidism 4 11.1
10 hyperparathyroidism 3 11.1
11 multiple endocrine neoplasia, type iib 10.1 MEN1 RET
12 pancreatic gastrinoma 10.1 MEN1 PYGM
13 ectopic cushing syndrome 10.1 MEN1 RET
14 multiple endocrine neoplasia, type iv 10.1 MEN1 RET
15 parathyroid transitional clear cell adenoma 10.1 MEN1 PTH
16 clear cell adenoma 10.1 MEN1 PTH
17 thyroid gland disease 10.1 PTH RET
18 chief cell adenoma 10.1 GCM2 PTH
19 connective tissue benign neoplasm 10.1 CDC73 PTH
20 hypocalciuric hypercalcemia, familial, type i 10.1 CASR PTH
21 hypocalciuric hypercalcemia, familial, type ii 10.1 CASR PTH
22 hypocalciuric hypercalcemia, familial, type iii 10.1 CASR PTH
23 calciphylaxis 10.0 CASR PTH
24 hypercalcemia, infantile, 1 10.0 CASR PTH
25 osteitis fibrosa 10.0 CASR PTH
26 phosphorus metabolism disease 10.0 CASR PTH
27 secondary hyperparathyroidism of renal origin 10.0 CASR PTH
28 gastrinoma 10.0 GAST MEN1
29 metal metabolism disorder 10.0 CASR PTH
30 pancreatic cholera 10.0 GAST MEN1
31 duodenal gastrinoma 10.0 GAST MEN1
32 cell type benign neoplasm 10.0 CDC73 MEN1 PTH
33 zollinger-ellison syndrome 10.0 GAST MEN1
34 familial hypocalciuric hypercalcemia 10.0 CASR CDC73 PTH
35 renal osteodystrophy 10.0 CASR PTH
36 hypoparathyroidism, familial isolated 9.9 CASR GCM2 PTH
37 hypoparathyroidism 9.9 CASR GCM2 PTH
38 mineral metabolism disease 9.9 CASR PTH
39 hypocalcemia, autosomal dominant 1 9.9 CASR GCM2 PTH
40 hyperphosphatemia 9.9 CASR GCM2 PTH
41 endocrine organ benign neoplasm 9.9 MEN1 PTH RET
42 islet cell tumor 9.9 GAST MEN1
43 gastrointestinal system benign neoplasm 9.9 GAST MEN1
44 serotonin syndrome 9.9 GAST MEN1
45 endocrine gland cancer 9.9 GAST MEN1 RET
46 thyroid carcinoma, familial medullary 9.9 GAST MEN1 RET
47 multiple endocrine neoplasia, type iia 9.8 CDC73 MEN1 PTH RET
48 peptic ulcer disease 9.8 GAST MEN1
49 osteomalacia 9.8 CASR PTH
50 acromegaly 9.8

Graphical network of the top 20 diseases related to Familial Isolated Hyperparathyroidism:



Diseases related to Familial Isolated Hyperparathyroidism

Symptoms & Phenotypes for Familial Isolated Hyperparathyroidism

Human phenotypes related to Familial Isolated Hyperparathyroidism:

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

MGI Mouse Phenotypes related to Familial Isolated Hyperparathyroidism:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.98 CASR CDC73 GCM2 JUND MEN1 PTH
2 endocrine/exocrine gland MP:0005379 9.97 CASR CDC73 GAST GCM2 JUND MEN1
3 homeostasis/metabolism MP:0005376 9.97 CASR CDC73 GAST GCM2 JUND MEN1
4 digestive/alimentary MP:0005381 9.8 CASR CDC73 GAST MEN1 RET
5 immune system MP:0005387 9.8 CASR CDC73 GAST JUND MEN1 PTH
6 mortality/aging MP:0010768 9.76 CASR CDC73 GAST GCM2 JUND MEN1
7 muscle MP:0005369 9.43 CASR CDC73 JUND MEN1 PYGM RET
8 renal/urinary system MP:0005367 9.02 CASR CDC73 GCM2 PYGM RET

Drugs & Therapeutics for Familial Isolated Hyperparathyroidism

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

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

Genetic Tests for Familial Isolated Hyperparathyroidism

Anatomical Context for Familial Isolated Hyperparathyroidism

MalaCards organs/tissues related to Familial Isolated Hyperparathyroidism:

41
Bone, Kidney, Thyroid, Testes

Publications for Familial Isolated Hyperparathyroidism

Articles related to Familial Isolated Hyperparathyroidism:

(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 Familial Isolated Hyperparathyroidism

ClinVar genetic disease variations for Familial Isolated Hyperparathyroidism:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MEN1 NM_000244.3(MEN1): c.1356T> G (p.Phe452Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 64572515: 64572515
2 MEN1 NM_000244.3(MEN1): c.1356T> G (p.Phe452Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 64805043: 64805043

Expression for Familial Isolated Hyperparathyroidism

Search GEO for disease gene expression data for Familial Isolated Hyperparathyroidism.

Pathways for Familial Isolated Hyperparathyroidism

Pathways related to Familial Isolated Hyperparathyroidism according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.95 CASR GCM2 JUND PTH

GO Terms for Familial Isolated Hyperparathyroidism

Biological processes related to Familial Isolated Hyperparathyroidism according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.73 CDC73 JUND MEN1 PTH
2 transcription by RNA polymerase II GO:0006366 9.71 ATF1 CDC73 GCM2 JUND
3 response to drug GO:0042493 9.63 JUND PTH RET
4 negative regulation of epithelial cell proliferation GO:0050680 9.49 CDC73 MEN1
5 cellular response to glucose stimulus GO:0071333 9.48 CASR MEN1
6 response to organic cyclic compound GO:0014070 9.43 ATF1 CASR JUND
7 beta-catenin-TCF complex assembly GO:1904837 9.37 CDC73 MEN1
8 cellular calcium ion homeostasis GO:0006874 9.33 CASR GCM2 PTH
9 osteoblast development GO:0002076 9.32 JUND MEN1
10 positive regulation of transcription by RNA polymerase II GO:0045944 9.1 ATF1 CDC73 GCM2 JUND MEN1 PTH
11 response to fibroblast growth factor GO:0071774 8.96 CASR PTH

Sources for Familial Isolated Hyperparathyroidism

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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