FIHP
MCID: FML075
MIFTS: 40

Familial Isolated Hyperparathyroidism (FIHP) malady

Endocrine, Cancer, Genetic categories

Summaries for Familial Isolated Hyperparathyroidism

Sources:
21Genetics Home Reference, 47OMIM, 33MalaCards
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Genetics Home Reference:21 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.

MalaCards: Familial Isolated Hyperparathyroidism, also known as hyperparathyroidism 1, is related to multiple endocrine neoplasia and adenoma. An important gene associated with Familial Isolated Hyperparathyroidism is CDC73 (cell division cycle 73). The compounds pamidronate and 25-hydroxyvitamin d have been mentioned in the context of this disorder. Related mouse phenotypes are muscle and digestive/alimentary.

Description from OMIM:47 145000

Aliases & Classifications for Familial Isolated Hyperparathyroidism

Sources:
49Orphanet, 47OMIM, 43NIH Rare Diseases, 21Genetics Home Reference, 20GeneTests, 22GTR, 61UMLS, 26ICD10 via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
familial primary hyperparathyroidism:
Inheritance: Autosomal dominant; Age of onset: Childhood


Aliases & Descriptions:

familial isolated hyperparathyroidism 43 21
hyperparathyroidism 1 43 20 22 21 61
fihp 43 21
hyperparathyroidism, familial isolated primary 43
hyperparathyroidism, familial, primary 43
hyperparathyroidism, familial primary 47
familial primary hyperparathyroidism 49
hrpt1 43


External Ids:

ICD10 via Orphanet26 E21.0

Related Diseases for Familial Isolated Hyperparathyroidism

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Familial Isolated Hyperparathyroidism via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 74)
idRelated DiseaseScoreTop Affiliating Genes
1multiple endocrine neoplasia30.5GAST, MEN1, CDC73, RET
2adenoma30.4PTH, RET, CDC73, MEN1, GAST, CASR
3hyperparathyroidism-jaw tumor syndrome30.3CDC73
4acromegaly30.1MEN1
5parathyroid carcinoma30.1CASR, MEN1, CDC73, PTH
6primary hyperparathyroidism30.1CASR, GAST, MEN1, CDC73, PTH, RET
7cdc73-related familial isolated hyperparathyroidism10.3
8ossifying fibroma10.1
9pituitary tumors10.0MEN1
10pancreatitis10.0CASR
11wilms tumor10.0CDC73
12adrenal adenoma10.0MEN1
13astrocytoma10.0CASR
14renal dysplasia10.0RET
15prostate cancer10.0CASR
16hypophosphatemia10.0PTH
17neuroma10.0RET
18hypertension10.0PTH
19somatostatinoma10.0GAST
20hyperinsulinemic hypoglycemia10.0GAST
21meningioma10.0MEN1
22short bowel syndrome10.0GAST
23pyloric stenosis10.0GAST
24achalasia10.0GAST
25von hippel-lindau disease10.0RET, MEN1
26hemangioma10.0RET, MEN1
27familial colorectal cancer10.0RET, MEN1
28rickets10.0PTH
29esophagitis10.0GAST
30neurofibromatosis10.0RET, MEN1
31osteomalacia10.0PTH, CASR
32hypoparathyroidism familial isolated10.0PTH, CASR
33osteitis fibrosa10.0CASR, PTH
34cushing's syndrome10.0RET, MEN1
35hypothyroidism10.0PTH, CASR
36hyperphosphatemia10.0PTH, CASR
37diabetes mellitus10.0CASR, PTH
38renal osteodystrophy10.0PTH, CASR
39calcinosis10.0PTH, CASR
40vipoma10.0MEN1, GAST
41zollinger-ellison syndrome10.0GAST, MEN1
42atrophic gastritis10.0MEN1, GAST
43autosomal dominant disease10.0RET, PTH
44papillary thyroid carcinoma10.0RET, MEN1
45serotonin syndrome10.0MEN1, GAST
46glucagonoma10.0MEN1, GAST
47endocrine gland cancer10.0GAST, RET
48secondary syphilis10.0PTH, CASR
49neuroendocrine carcinoma10.0MEN1, GAST
50pituitary adenoma10.0CASR, MEN1, RET

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



Diseases related to familial isolated hyperparathyroidism

Clinical Features for Familial Isolated Hyperparathyroidism

Sources:
47OMIM
See all sources

Clinical features from OMIM:

145000

Clinical synopsis from OMIM:

145000

Drugs & Therapeutics for Familial Isolated Hyperparathyroidism

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Familial Isolated Hyperparathyroidism

Drug clinical trials:

Search ClinicalTrials for Familial Isolated Hyperparathyroidism

Search NIH Clinical Center for Familial Isolated Hyperparathyroidism

Search CenterWatch for Familial Isolated Hyperparathyroidism

Genetic Tests for Familial Isolated Hyperparathyroidism

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Familial Isolated Hyperparathyroidism:

id Genetic test Affiliating Genes
1 Hyperparathyroidism 120 22 MEN1

Anatomical Context for Familial Isolated Hyperparathyroidism

Animal Models for Familial Isolated Hyperparathyroidism or affiliated genes

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

MGI Mouse Phenotypes related to Familial Isolated Hyperparathyroidism:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.5RET, CDC73, MEN1, CASR
2MP:00053817.9CASR, GAST, MEN1, CDC73, RET
3MP:00053767.7MEN1, CASR, CDC73, RET, GAST
4MP:00053787.6RET, CDC73, MEN1, PTH, CASR
5MP:00053797.3MEN1, CDC73, RET, PTH, CASR, GAST
6MP:00053877.2CASR, GAST, MEN1, RET, PTH, CDC73
7MP:00107687.1CASR, PTH, RET, CDC73, GAST, MEN1

Publications for Familial Isolated Hyperparathyroidism

Sources:
51PubMed
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Articles related to Familial Isolated Hyperparathyroidism:

(show all 33)
idTitleAuthorsYear
1
Familial isolated primary hyperparathyroidism due to HRPT2 mutation. (24121387)
2013
2
Familial isolated hyperparathyroidism: role of intra operative parathormone assay. (24082601)
2012
3
Familial isolated primary hyperparathyroidism caused by mutations of the MEN1 gene. (18084346)
2008
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 familial isolated hyperparathyroidism: implication for clinical assessment and surgical management. (16430712)
2006
11
Genetic analyses in patients with familial isolated hyperparathyroidism and hyperparathyroidism-jaw tumour syndrome. (16817812)
2006
12
Utilisation of a cryptic non-canonical donor splice site of the gene encoding PARAFIBROMIN is associated with familial isolated primary hyperparathyroidism. (16061557)
2005
13
Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome. (14715834)
2004
14
Novel intronic mutation of MEN1 gene causing familial isolated primary hyperparathyroidism. (15292357)
2004
15
Germline and de novo mutations in the HRPT2 tumour suppressor gene in familial isolated hyperparathyroidism (FIHP). (14985403)
2004
16
Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications. (14985373)
2004
17
Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism. (12699448)
2003
18
Genetic analysis of the MEN1 gene and HPRT2 locus in two Italian kindreds with familial isolated hyperparathyroidism. (11966738)
2002
19
Familial isolated hyperparathyroidism: clinical and genetic characteristics of 36 kindreds. (11807402)
2002
20
Involvement of the MEN1 gene locus in familial isolated hyperparathyroidism. (12213668)
2002
21
Familial isolated primary hyperparathyroidism--a multiple endocrine neoplasia type 1 variant? (11454510)
2001
22
A case of familial isolated hyperparathyroidism with ectopic parathyroid cancer. (11603567)
2001
23
Familial isolated hyperparathyroidism: a report of two cases]. (10689881)
2000
24
Familial isolated hyperparathyroidism as a variant of multiple endocrine neoplasia type 1 in a large Danish pedigree. (10634381)
2000
25
A novel mutation of the MEN1 gene in a Japanese kindred with familial isolated primary hyperparathyroidism. (10664521)
2000
26
Isolated familial hyperparathyroidism with a novel mutation of the MEN1 gene. (11421544)
2000
27
Familial isolated hyperparathyroidism maps to the hyperparathyroidism-jaw tumor locus in 1q21-q32 in a subset of families. (9626148)
1998
28
Familial isolated hyperparathyroidism caused by single adenoma: a distinct entity different from multiple endocrine neoplasia. (10395244)
1998
29
Mutation analysis of the MEN1 gene in multiple endocrine neoplasia type 1, familial acromegaly and familial isolated hyperparathyroidism. (9709921)
1998
30
Familial isolated primary hyperparathyroidism with parathyroid carcinomas: clinical and molecular features. (9509070)
1998
31
Familial isolated hyperparathyroidism due to multiple adenomas associated with ossifying jaw fibroma and multiple uterine adenomyomatous polyps. (9625369)
1998
32
Familial isolated primary hyperparathyroidism. (7955451)
1994
33
Familial isolated hyperparathyroidism: a distinct genetic entity with an increased risk of parathyroid cancer. (7903311)
1993

Genetic Variations for Familial Isolated Hyperparathyroidism

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Familial Isolated Hyperparathyroidism:

63
id Symbol AA change Variation SNP ID
1CDC73p.Leu64ProVAR_024082
2MEN1p.Val189GluVAR_005445
3MEN1p.Glu260LysVAR_005448
4MEN1p.Leu272ProVAR_005450
5MEN1p.Asp158ValVAR_039592
6MEN1p.Gln265ProVAR_039612
7MEN1p.Pro282HisVAR_039615
8MEN1p.Gly310AspVAR_039618
9MEN1p.Ala416ProVAR_039634

Expression for genes affiliated with Familial Isolated Hyperparathyroidism

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Familial Isolated Hyperparathyroidism

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

Pathways for genes affiliated with Familial Isolated Hyperparathyroidism

Compounds for genes affiliated with Familial Isolated Hyperparathyroidism

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 24HMDB, 60Tocris Bioscience
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Compounds related to Familial Isolated Hyperparathyroidism according to GeneCards/GeneDecks:

(show all 18)
idCompoundScoreTop Affiliating Genes
1pamidronate45 50 1111.6PTH, CASR
225-hydroxyvitamin d459.6PTH, CASR
3phosphorus459.5PTH, CASR
4peptone459.4CASR, GAST
5neomycin459.2CASR, GAST
6ribonucleic acid459.1PTH, RET, CASR
7ag 1478458.9PTH, GAST
8cyclic amp45 249.8PTH, RET, CASR
9calcitriol45 60 11 2411.8CASR, GAST, PTH
10thymidine45 249.8GAST, MEN1, PTH
11creatinine458.7GAST, PTH, CASR
12adenylate458.6PTH, GAST, CASR
13testosterone45 60 11 2411.5GAST, RET, PTH
14vitamin d458.4MEN1, CASR, GAST, PTH
15vegf458.3PTH, RET, MEN1, GAST
16serine457.9CASR, RET, GAST, MEN1
17tyrosine457.8PTH, CASR, GAST, MEN1, RET
18calcium45 50 11 2410.8RET, CASR, GAST, MEN1, PTH

GO Terms for genes affiliated with Familial Isolated Hyperparathyroidism

Sources:
16Gene Ontology
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Biological processes related to Familial Isolated Hyperparathyroidism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1MAPK cascadeGO:0001659.4RET, MEN1
2cellular calcium ion homeostasisGO:0068749.0CASR, PTH
3negative regulation of transcription from RNA polymerase II promoterGO:0001229.0MEN1, CDC73, PTH
4G-protein coupled receptor signaling pathwayGO:0071868.5CASR, GAST, PTH

Molecular functions related to Familial Isolated Hyperparathyroidism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1hormone activityGO:0051799.0PTH, GAST

Products for genes affiliated with Familial Isolated Hyperparathyroidism

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Sources for Familial Isolated 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