MCID: HYP615
MIFTS: 34

Hyperparathyroidism, Familial Primary malady

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

Summaries for Hyperparathyroidism, Familial Primary

About this section


NIH Rare Diseases:41 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 multiple endocrine neoplasia and hyperparathyroidism-jaw tumor syndrome, 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: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.

Description from OMIM:45 145000

Aliases & Classifications for Hyperparathyroidism, Familial Primary

About this section

Hyperparathyroidism, Familial Primary, Aliases & Descriptions:

Name: Hyperparathyroidism, Familial Primary 45 10
Hyperparathyroidism 1 45 41 20 21 22 60
Familial Isolated Hyperparathyroidism 41 21 47
Fihp 41 21
Hyperparathyroidism, Familial Isolated Primary 41
 
Familial Primary Hyperparathyroidism 41
Familial Hyperparathyroidism 60
Hyperparathyroidism 3 60
Fihpt 47
Hrpt1 41


Classifications:

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


External Ids:

OMIM45 145000
Orphanet47 99879
ICD10 via Orphanet26 E21.0

Related Diseases for Hyperparathyroidism, Familial Primary

About this section

Graphical network of diseases related to Hyperparathyroidism, Familial Primary:



Diseases related to hyperparathyroidism, familial primary

Symptoms for Hyperparathyroidism, Familial Primary

About this section

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

About this section

Drug clinical trials:

Search ClinicalTrials for Hyperparathyroidism, Familial Primary

Search NIH Clinical Center for Hyperparathyroidism, Familial Primary

Genetic Tests for Hyperparathyroidism, Familial Primary

About this section

Genetic tests related to Hyperparathyroidism, Familial Primary:

id Genetic test Affiliating Genes
1 Hyperparathyroidism 120 22 MEN1

Anatomical Context for Hyperparathyroidism, Familial Primary

About this section

MalaCards organs/tissues related to Hyperparathyroidism, Familial Primary:

31
Bone, Kidney

Animal Models for Hyperparathyroidism, Familial Primary or affiliated genes

About this section

MGI Mouse Phenotypes related to Hyperparathyroidism, Familial Primary:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.1CDC73, MEN1
2MP:00053709.0CDC73, MEN1
3MP:00053818.8CDC73, MEN1

Publications for Hyperparathyroidism, Familial Primary

About this section

Variations for Hyperparathyroidism, Familial Primary

About this section

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

62
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:

6
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

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

Pathways for genes affiliated with Hyperparathyroidism, Familial Primary

About this section

Compounds for genes affiliated with Hyperparathyroidism, Familial Primary

About this section

GO Terms for genes affiliated with Hyperparathyroidism, Familial Primary

About this section

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

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Hyperparathyroidism, Familial Primary

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet