MCID: HYP615
MIFTS: 38

Hyperparathyroidism, Familial Primary malady

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

Summaries for Hyperparathyroidism, Familial Primary

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NIH Rare Diseases:43 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, Familial Primary, also known as hyperparathyroidism 1, is related to hyperparathyroidism and multiple endocrine neoplasia, and has symptoms including autosomal dominant inheritance, hypercalcemia and primary hyperparathyroidism. An important gene associated with Hyperparathyroidism, Familial Primary is CDC73 (cell division cycle 73). Affiliated tissues include bone and kidney, and related mouse phenotypes are muscle and liver/biliary system.

Genetics Home Reference:23 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:47 145000

Aliases & Classifications for Hyperparathyroidism, Familial Primary

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Hyperparathyroidism, Familial Primary, Aliases & Descriptions:

Name: Hyperparathyroidism, Familial Primary 47 11
Hyperparathyroidism 1 47 43 22 23 24
Familial Isolated Hyperparathyroidism 43 23 49
Fihp 43 23
 
Hyperparathyroidism, Familial Isolated Primary 43
Familial Primary Hyperparathyroidism 43
Hrpt1 43
Fihpt 49


Classifications:

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


External Ids:

OMIM47 145000
Orphanet49 99879
ICD10 via Orphanet28 E21.0

Related Diseases for Hyperparathyroidism, Familial Primary

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Diseases in the Hyperparathyroidism family:

Hyperparathyroidism 3 hyperparathyroidism, familial primary
Primary Hyperparathyroidism

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

(show all 15)
idRelated DiseaseScoreTop Affiliating Genes
1hyperparathyroidism30.6MEN1, CDC73
2multiple endocrine neoplasia30.5MEN1, CDC73
3adenoma30.5CDC73, MEN1
4hyperparathyroidism-jaw tumor syndrome30.5CDC73, MEN1
5primary hyperparathyroidism30.4CDC73, MEN1
6parathyroid carcinoma30.2CDC73, MEN1
7cdc73-related familial isolated hyperparathyroidism10.3
8fibroma10.1
9acromegaly10.1
10long qt syndrome10.1
11hyperparathyroidism 310.0MEN1, CDC73
12multiple endocrine neoplasia iia10.0CDC73, MEN1
13parathyroid adenoma10.0MEN1, CDC73
14multiple endocrine neoplasia 110.0CDC73, MEN1
15hypercalcemia10.0CDC73, MEN1

Graphical network of diseases related to Hyperparathyroidism, Familial Primary:



Diseases related to hyperparathyroidism, familial primary

Symptoms for Hyperparathyroidism, Familial Primary

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Symptoms by clinical synopsis from OMIM:

145000

Clinical features from OMIM:

145000

HPO human phenotypes related to Hyperparathyroidism, Familial Primary:

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

Drugs & Therapeutics for Hyperparathyroidism, Familial Primary

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Drug clinical trials:

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Search NIH Clinical Center for Hyperparathyroidism, Familial Primary

Genetic Tests for Hyperparathyroidism, Familial Primary

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Genetic tests related to Hyperparathyroidism, Familial Primary:

id Genetic test Affiliating Genes
1 Hyperparathyroidism 122 24 MEN1

Anatomical Context for Hyperparathyroidism, Familial Primary

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MalaCards organs/tissues related to Hyperparathyroidism, Familial Primary:

33
Bone, Kidney

Animal Models for Hyperparathyroidism, Familial Primary or affiliated genes

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MGI Mouse Phenotypes related to Hyperparathyroidism, Familial Primary:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.1CDC73, MEN1
2MP:00053709.0CDC73, MEN1
3MP:00053818.8CDC73, MEN1

Publications for Hyperparathyroidism, Familial Primary

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Variations for Hyperparathyroidism, Familial Primary

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

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 Hyperparathyroidism, Familial Primary:

7
id Gene Variation 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 Hyperparathyroidism, Familial Primary

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Search GEO for disease gene expression data for Hyperparathyroidism, Familial Primary.

Pathways for genes affiliated with Hyperparathyroidism, Familial Primary

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Compounds for genes affiliated with Hyperparathyroidism, Familial Primary

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GO Terms for genes affiliated with Hyperparathyroidism, Familial Primary

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Biological processes related to Hyperparathyroidism, Familial Primary according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of transcription from RNA polymerase II promoterGO:00459449.1CDC73, MEN1
2negative regulation of cell proliferationGO:00082859.0CDC73, MEN1
3negative regulation of transcription from RNA polymerase II promoterGO:00001228.8CDC73, MEN1

Products for genes affiliated with Hyperparathyroidism, Familial Primary

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Sources for Hyperparathyroidism, Familial Primary

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4CDC
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16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
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37MGI
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47OMIM
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52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet