FIHP
MCID: FML075
MIFTS: 52

Familial Isolated Hyperparathyroidism (FIHP) malady

Genetic diseases, Rare diseases categories
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Summaries for Familial Isolated Hyperparathyroidism

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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 based summary: Familial Isolated Hyperparathyroidism, also known as hyperparathyroidism 1, is related to hyperparathyroidism-jaw tumor syndrome and multiple endocrine neoplasia, and has symptoms including 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 bone and testes, and related mouse phenotypes are tumorigenesis and muscle.

Description from OMIM:46 145000

Aliases & Classifications for Familial Isolated Hyperparathyroidism

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Familial Isolated Hyperparathyroidism, Aliases & Descriptions:

Name: Familial Isolated Hyperparathyroidism 42 21 62
Hyperparathyroidism 1 42 20 22 21 62
Fihp 42 21
Hyperparathyroidism, Familial Isolated Primary 42
 
Hyperparathyroidism, Familial, Primary 42
Hyperparathyroidism, Familial Primary 46
Hrpt1 42


Classifications:

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


Related Diseases for Familial Isolated Hyperparathyroidism

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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 55)
idRelated DiseaseScoreTop Affiliating Genes
1hyperparathyroidism-jaw tumor syndrome30.9CDC73
2multiple endocrine neoplasia30.1RET, MEN1, GAST, CDC73
3hyperparathyroidism30.0CDC73, GAST, CASR, MEN1, RET, PTH
4adenoma29.4PTH, RET, MEN1, CASR, GAST, CDC73
5primary hyperparathyroidism29.2CDC73, GAST, CASR, MEN1, RET, PTH
6cdc73-related familial isolated hyperparathyroidism10.3
7familial colorectal cancer10.2MEN1, RET
8von hippel-lindau disease10.2RET, MEN1
9neurofibromatosis10.2MEN1, RET
10hemangioma10.2RET, MEN1
11rickets10.1CASR, PTH
12osteitis fibrosa10.1PTH, CASR
13acromegaly10.1
14fibroma10.1
15cushing's syndrome10.1MEN1, RET
16autosomal dominant disease10.1PTH, RET
17renal osteodystrophy10.1CASR, PTH
18calcinosis10.1CASR, PTH
19hyperphosphatemia10.1PTH, CASR
20osteomalacia10.1CASR, PTH
21papillary thyroid carcinoma10.1MEN1, RET
22nephrolithiasis10.1CASR, PTH
23goiter10.1RET, PTH
24vipoma10.1GAST, MEN1
25zollinger-ellison syndrome10.1MEN1, GAST
26atrophic gastritis10.1MEN1, GAST
27glucagonoma10.1MEN1, GAST
28serotonin syndrome10.1MEN1, GAST
29secondary syphilis10.1CASR, PTH
30endocrine gland cancer10.1RET, GAST
31neuroendocrine carcinoma10.0MEN1, GAST
32hypothyroidism10.0CASR, PTH
33pituitary adenoma10.0RET, MEN1, CASR
34glucose intolerance10.0GAST, PTH
35primary hyperoxaluria10.0CASR, PTH
36thyroid hurthle cell carcinoma10.0RET, PTH
37secondary hyperparathyroidism of renal origin10.0CASR, MEN1, PTH
38uremia10.0PTH, MEN1, CASR
39chronic kidney failure9.9CASR, MEN1, PTH
40hypoparathyroidism9.9PTH, RET, CASR
41wermer syndrome9.9CDC73, GAST, MEN1
42pancreatic islet cell tumors9.9GAST, MEN1, RET
43gastrinoma9.9GAST, CASR, MEN1
44paraganglioma9.9GAST, MEN1, RET
45neuroendocrine tumor9.9GAST, MEN1, RET
46carcinoid syndrome9.9GAST, MEN1, RET
47insulinoma9.9MEN1, CASR, GAST
48osteoporosis9.8CASR, PTH
49parathyroid carcinoma9.8PTH, MEN1, CASR, CDC73
50multiple endocrine neoplasia type 2a9.8PTH, RET, MEN1, CDC73

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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Symptoms by clinical synopsis from OMIM:

145000

Clinical features from OMIM:

145000

HPO human phenotypes related to Familial Isolated Hyperparathyroidism:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 hypercalcemia HP:0003072
3 primary hyperparathyroidism HP:0008200

Drugs & Therapeutics for Familial Isolated Hyperparathyroidism

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Drug clinical trials:

Search ClinicalTrials for Familial Isolated Hyperparathyroidism

Search NIH Clinical Center for Familial Isolated Hyperparathyroidism

Genetic Tests for Familial Isolated Hyperparathyroidism

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Genetic tests related to Familial Isolated Hyperparathyroidism:

id Genetic test Affiliating Genes
1 Hyperparathyroidism 120 22 MEN1

Anatomical Context for Familial Isolated Hyperparathyroidism

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MalaCards organs/tissues related to Familial Isolated Hyperparathyroidism:

32
Bone, Testes

Animal Models for Familial Isolated Hyperparathyroidism or affiliated genes

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MGI Mouse Phenotypes related to Familial Isolated Hyperparathyroidism:

36 (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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Articles related to Familial Isolated Hyperparathyroidism:

(show all 23)
idTitleAuthorsYear
1
Genetic basis of familial isolated hyperparathyroidism: a case series and a narrative review of the literature. (24442824)
2014
2
Familial isolated hyperparathyroidism: role of intra operative parathormone assay. (24082601)
2012
3
HRPT2-related familial isolated hyperparathyroidism: could molecular studies direct the surgical approach? (19169472)
2008
4
Mutations in genes causing human familial isolated hyperparathyroidism do not account for hyperparathyroidism in Keeshond dogs. (17158076)
2007
5
Parafibromin expression, single-gland involvement, and limited parathyroidectomy in familial isolated hyperparathyroidism. (18063086)
2007
6
Surveillance for early detection of aggressive parathyroid disease: carcinoma and atypical adenoma in familial isolated hyperparathyroidism associated with a germline HRPT2 mutation. (16995822)
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
Familial isolated hyperparathyroidism caused by single adenoma: a distinct entity different from multiple endocrine neoplasia. (10395244)
1998
21
Mutation analysis of the MEN1 gene in multiple endocrine neoplasia type 1, familial acromegaly and familial isolated hyperparathyroidism. (9709921)
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: a distinct genetic entity with an increased risk of parathyroid cancer. (7903311)
1993

Variations for Familial Isolated Hyperparathyroidism

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UniProtKB/Swiss-Prot genetic disease variations for Familial Isolated Hyperparathyroidism:

64
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:

6
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
3MEN1MEN1, IVS9, G-A, +1single nucleotide variantPathogenic
4CDC73NM_024529.4(CDC73): c.679_680insAG (p.Arg227Lysfs)insertionPathogenicrs80356649GRCh37Chr 1, 193111146: 193111147
5CDC73NM_024529.4(CDC73): c.191T> C (p.Leu64Pro)single nucleotide variantPathogenicrs121434264GRCh37Chr 1, 193094301: 193094301
6CDC73NM_024529.4(CDC73): c.131+1G> Asingle nucleotide variantPathogenicGRCh37Chr 1, 193091462: 193091462

Expression for genes affiliated with Familial Isolated Hyperparathyroidism

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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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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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Compounds related to Familial Isolated Hyperparathyroidism according to GeneCards/GeneDecks:

(show all 30)
idCompoundScoreTop Affiliating Genes
1peptone449.8GAST, CASR
2neomycin449.7GAST, CASR
3pamidronate44 50 1111.7CASR, PTH
425-hydroxyvitamin d449.7PTH, CASR
5phosphorus449.7PTH, CASR
6bicarbonate449.6GAST, PTH
7ag 1478449.6PTH, GAST
81,25 dihydroxy vitamin d3449.5PTH, CASR
9carbachol44 28 1111.4PTH, GAST
10bromodeoxyuridine449.4PTH, GAST
11thyroxine44 2410.3GAST, PTH
12inositol 1,4,5 trisphosphate449.2PTH, CASR
13thymidine44 2410.2GAST, MEN1, PTH
14calcitriol44 61 24 1112.2GAST, CASR, PTH
15pge2449.1GAST, CASR, PTH
16creatinine449.1PTH, CASR, GAST
17adenylate449.1GAST, CASR, PTH
18isoproterenol44 1110.0GAST, PTH
19ribonucleic acid448.9CASR, RET, PTH
20glucose448.8GAST, CASR, PTH
21cyclic amp44 249.8PTH, RET, CASR
22alanine448.8GAST, CASR, RET
23vitamin d448.7GAST, CASR, MEN1, PTH
24testosterone44 61 24 1111.7GAST, RET, PTH
25estrogen448.7PTH, MEN1, CASR, GAST
26arginine448.7CASR, RET, PTH
27serine448.5GAST, CASR, MEN1, RET
28vegf448.4PTH, RET, MEN1, GAST
29tyrosine447.9PTH, RET, MEN1, CASR, GAST
30calcium44 50 24 1110.9PTH, RET, MEN1, CASR, GAST

GO Terms for genes affiliated with Familial Isolated Hyperparathyroidism

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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:0068749.0CASR, PTH
3positive regulation of transcription from RNA polymerase II promoterGO:0459449.0CDC73, MEN1, PTH
4negative regulation of transcription from RNA polymerase II promoterGO:0001228.9PTH, MEN1, CDC73
5G-protein coupled receptor signaling pathwayGO:0071868.9GAST, CASR, PTH

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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet