FIHP
MCID: FML075
MIFTS: 52

Familial Isolated Hyperparathyroidism (FIHP) malady

Genetic diseases, Rare diseases, Endocrine diseases, Cancer diseases categories

Summaries for Familial Isolated Hyperparathyroidism

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22Genetics Home Reference, 48OMIM, 34MalaCards
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Genetics Home Reference:22 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 hyperparathyroidism and hyperparathyroidism-jaw tumor syndrome. An important gene associated with Familial Isolated Hyperparathyroidism is CDC73 (cell division cycle 73), and among its related pathways is Signaling by GPCR. The compounds peptone and neomycin have been mentioned in the context of this disorder. Affiliated tissues include testes, and related mouse phenotypes are tumorigenesis and muscle.

Description from OMIM:48 145000

Aliases & Classifications for Familial Isolated Hyperparathyroidism

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50Orphanet, 48OMIM, 44NIH Rare Diseases, 22Genetics Home Reference, 21GeneTests, 23GTR, 63UMLS, 60SNOMED-CT via Orphanet, 27ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
familial primary hyperparathyroidism:
Inheritance: Autosomal dominant; Age of onset: Childhood


Aliases & Descriptions:

familial isolated hyperparathyroidism 44 22
hyperparathyroidism 1 44 21 23 22 63
fihp 44 22
hyperparathyroidism, familial isolated primary 44
hyperparathyroidism, familial, primary 44
hyperparathyroidism, familial primary 48
familial primary hyperparathyroidism 50
hrpt1 44


External Ids:

SNOMED-CT via Orphanet60 237653008
ICD10 via Orphanet27 E21.0

Related Diseases for Familial Isolated Hyperparathyroidism

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18GeneCards, 19GeneDecks
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Diseases in the Familial Isolated Hyperparathyroidism family:

Cdc73-Related Familial Isolated Hyperparathyroidism

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

(show top 50)    (show all 56)
idRelated DiseaseScoreTop Affiliating Genes
1hyperparathyroidism30.9PTH, RET, MEN1, CASR, GAST, CDC73
2hyperparathyroidism-jaw tumor syndrome30.4CDC73
3multiple endocrine neoplasia30.3RET, MEN1, GAST, CDC73
4adenoma30.1RET, MEN1, CDC73, GAST, PTH, CASR
5primary hyperparathyroidism29.9RET, MEN1, CASR, GAST, CDC73, PTH
6cdc73-related familial isolated hyperparathyroidism10.3
7fibroma10.1
8acromegaly10.1
9long qt syndrome10.1
10familial colorectal cancer10.0MEN1, RET
11von hippel-lindau disease10.0RET, MEN1
12neurofibromatosis10.0RET, MEN1
13hemangioma10.0RET, MEN1
14rickets10.0PTH, CASR
15osteitis fibrosa10.0CASR, PTH
16cushing's syndrome10.0RET, MEN1
17autosomal dominant disease10.0RET, PTH
18renal osteodystrophy10.0PTH, CASR
19calcinosis10.0CASR, PTH
20hyperphosphatemia10.0PTH, CASR
21osteomalacia10.0CASR, PTH
22papillary thyroid carcinoma10.0MEN1, RET
23nephrolithiasis10.0PTH, CASR
24goiter10.0PTH, RET
25vipoma10.0MEN1, GAST
26zollinger-ellison syndrome10.0GAST, MEN1
27atrophic gastritis10.0MEN1, GAST
28glucagonoma10.0MEN1, GAST
29serotonin syndrome10.0GAST, MEN1
30secondary syphilis10.0PTH, CASR
31endocrine gland cancer10.0GAST, RET
32neuroendocrine carcinoma10.0GAST, MEN1
33hypothyroidism10.0CASR, PTH
34pituitary adenoma10.0MEN1, RET, CASR
35glucose intolerance10.0PTH, GAST
36primary hyperoxaluria10.0CASR, PTH
37thyroid cancer10.0RET, PTH
38secondary hyperparathyroidism of renal origin10.0PTH, CASR, MEN1
39uremia10.0MEN1, CASR, PTH
40chronic kidney failure10.0MEN1, CASR, PTH
41hypoparathyroidism10.0PTH, RET, CASR
42wermer syndrome10.0CDC73, GAST, MEN1
43pancreatic islet cell tumors10.0RET, MEN1, GAST
44gastrinoma10.0MEN1, CASR, GAST
45paraganglioma10.0RET, MEN1, GAST
46neuroendocrine tumor10.0GAST, MEN1, RET
47carcinoid syndrome10.0MEN1, GAST, RET
48insulinoma10.0MEN1, CASR, GAST
49osteoporosis10.0CASR, PTH
50parathyroid carcinoma9.9CASR, CDC73, PTH, MEN1

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



Diseases related to familial isolated hyperparathyroidism

Symptoms for Familial Isolated Hyperparathyroidism

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48OMIM
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Symptoms by clinical synopsis from OMIM:

145000

Clinical features from OMIM:

145000

Drugs & Therapeutics for Familial Isolated Hyperparathyroidism

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Familial Isolated Hyperparathyroidism

Drug clinical trials:

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Search NIH Clinical Center for Familial Isolated Hyperparathyroidism

Search CenterWatch for Familial Isolated Hyperparathyroidism

Genetic Tests for Familial Isolated Hyperparathyroidism

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21GeneTests, 23GTR
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Genetic tests related to Familial Isolated Hyperparathyroidism:

id Genetic test Affiliating Genes
1 Hyperparathyroidism 121 23 MEN1

Anatomical Context for Familial Isolated Hyperparathyroidism

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34MalaCards
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MalaCards organs/tissues related to Familial Isolated Hyperparathyroidism:

34
Testes

Animal Models for Familial Isolated Hyperparathyroidism or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Familial Isolated Hyperparathyroidism:

38 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.6GAST, MEN1, RET
2MP:00053698.4CDC73, CASR, MEN1, RET
3MP:00053848.3CDC73, CASR, MEN1, RET
4MP:00053858.2PTH, RET, MEN1, CDC73
5MP:00053817.9RET, MEN1, CASR, GAST, CDC73
6MP:00053977.8PTH, RET, CASR, CDC73
7MP:00053787.7PTH, RET, MEN1, CASR, CDC73
8MP:00053797.4CDC73, GAST, CASR, MEN1, RET, PTH
9MP:00053877.3PTH, RET, MEN1, CASR, GAST, CDC73
10MP:00053767.3PTH, RET, MEN1, CASR, GAST, CDC73
11MP:00107687.3PTH, RET, MEN1, CASR, GAST, CDC73

Publications for Familial Isolated Hyperparathyroidism

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53PubMed
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Articles related to Familial Isolated Hyperparathyroidism:

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

Variations for Familial Isolated Hyperparathyroidism

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Familial Isolated Hyperparathyroidism:

65
id Symbol AA change Variation ID 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

Clinvar genetic disease variations for Familial Isolated Hyperparathyroidism:

1
id Gene Name Type Significance SNP ID Assembly Location
1MEN1NM_000244.3(MEN1): c.778G> A (p.Glu260Lys)single nucleotide variantPathogenicrs104894268GRCh37Chr 11, 64575044: 64575044
2MEN1NM_000244.3(MEN1): c.566T> A (p.Val189Glu)single nucleotide variantPathogenicrs104894262GRCh37Chr 11, 64575466: 64575466
3CDC73NM_024529.4(CDC73): c.191T> C (p.Leu64Pro)single nucleotide variantPathogenicrs121434264GRCh37Chr 1, 193094301: 193094301

Expression for genes affiliated with Familial Isolated Hyperparathyroidism

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2BioGPS, 16Gene 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

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51PathCards, 56Reactome
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Pathways related to Familial Isolated Hyperparathyroidism according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
8.4GAST, CASR, MEN1, PTH

Compounds for genes affiliated with Familial Isolated Hyperparathyroidism

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46Novoseek, 52PharmGKB, 12DrugBank, 30IUPHAR, 25HMDB, 62Tocris Bioscience
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Compounds related to Familial Isolated Hyperparathyroidism according to GeneCards/GeneDecks:

(show all 30)
idCompoundScoreTop Affiliating Genes
1peptone469.8GAST, CASR
2neomycin469.7GAST, CASR
3pamidronate46 52 1211.7CASR, PTH
425-hydroxyvitamin d469.7PTH, CASR
5phosphorus469.7PTH, CASR
6bicarbonate469.6GAST, PTH
7ag 1478469.6PTH, GAST
81,25 dihydroxy vitamin d3469.5PTH, CASR
9carbachol46 30 1211.4PTH, GAST
10bromodeoxyuridine469.4PTH, GAST
11thyroxine46 2510.3GAST, PTH
12inositol 1,4,5 trisphosphate469.2PTH, CASR
13thymidine46 2510.2GAST, MEN1, PTH
14calcitriol46 62 25 1212.2GAST, CASR, PTH
15pge2469.1GAST, CASR, PTH
16creatinine469.1PTH, CASR, GAST
17adenylate469.1GAST, CASR, PTH
18isoproterenol46 1210.0GAST, PTH
19ribonucleic acid468.9CASR, RET, PTH
20glucose468.8GAST, CASR, PTH
21cyclic amp46 259.8PTH, RET, CASR
22alanine468.8GAST, CASR, RET
23vitamin d468.7GAST, CASR, MEN1, PTH
24testosterone46 62 25 1211.7GAST, RET, PTH
25estrogen468.7PTH, MEN1, CASR, GAST
26arginine468.7CASR, RET, PTH
27serine468.5GAST, CASR, MEN1, RET
28vegf468.4PTH, RET, MEN1, GAST
29tyrosine467.9PTH, RET, MEN1, CASR, GAST
30calcium46 52 25 1210.9PTH, RET, MEN1, CASR, GAST

GO Terms for genes affiliated with Familial Isolated Hyperparathyroidism

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17Gene Ontology
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Biological processes related to Familial Isolated Hyperparathyroidism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1MAPK cascadeGO:0001659.2MEN1, RET
2cellular calcium ion homeostasisGO:0068749.0PTH, CASR
3positive regulation of transcription from RNA polymerase II promoterGO:0459449.0CDC73, MEN1, PTH
4negative regulation of transcription from RNA polymerase II promoterGO:0001228.9CDC73, MEN1, PTH
5G-protein coupled receptor signaling pathwayGO:0071868.9PTH, CASR, GAST

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

idNameGO IDScoreTop Affiliating Genes
1hormone activityGO:0051799.0GAST, PTH
2protein bindingGO:0055157.7CDC73, GAST, CASR, MEN1, RET

Products for genes affiliated with Familial Isolated Hyperparathyroidism

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Sources for Familial Isolated Hyperparathyroidism

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet