HRPT2
MCID: HYP108
MIFTS: 32

Hyperparathyroidism-Jaw Tumor Syndrome (HRPT2) malady

Nephrological diseases, Endocrine diseases, Cancer diseases, Oral diseases, Genetic diseases categories

Summaries for Hyperparathyroidism-Jaw Tumor Syndrome

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42NIH Rare Diseases, 21Genetics Home Reference, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Hyperparathyroidism-jaw tumor syndrome is an inherited condition characterized by overactivity of the parathyroid glands (hyperparathyroidism), which regulate the body's use of calcium. in people with this condition, hyperparathyroidism is caused by benign tumors (adenomas) that form in the parathyroid glands. about 15 percent of people with this condition develop a cancerous tumor called parathyroid carcinoma. about 25 to 50 percent of affected individuals can also develop a benign tumor called a fibroma in the jaw. other benign or cancerous tumors can also develop, including tumors of the uterus in women; benign kidney cysts; and rarely, wilms tumor. this condition is caused by mutations in the cdc73 gene and is inherited in an autosomal dominant fashion. last updated: 11/29/2011

MalaCards: Hyperparathyroidism-Jaw Tumor Syndrome, also known as hyperparathyroidism 2, is related to hyperparathyroidism and parathyroid adenoma. An important gene associated with Hyperparathyroidism-Jaw Tumor Syndrome is CDC73 (cell division cycle 73). Affiliated tissues include kidney, bone and uterus, and related mouse phenotype renal/urinary system.

Genetics Home Reference:21 Hyperparathyroidism-jaw tumor syndrome is a condition characterized by overactivity of the parathyroid glands (hyperparathyroidism). The four parathyroid glands are located in the neck and secrete a hormone that regulates the body's use of calcium. Hyperparathyroidism disrupts the normal balance of calcium in the blood, which can lead to kidney stones, thinning of the bones (osteoporosis), nausea, vomiting, high blood pressure (hypertension), weakness, and fatigue.

Description from OMIM:46 145001

Aliases & Classifications for Hyperparathyroidism-Jaw Tumor Syndrome

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42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 46OMIM, 60UMLS, 48Orphanet, 44Novoseek, 22GTR, 26ICD10 via Orphanet
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Classifications:



Aliases & Descriptions:

hyperparathyroidism-jaw tumor syndrome 42 20 21 46 60
hyperparathyroidism 2 42 22 21
hpt-jt 42 21 48
familial primary hyperparathyroidism with multiple ossifying jaw fibromas 42 21
hereditary hyperparathyroidism-jaw tumor syndrome 42 21
hrpt2 42 44
parathyroid adenomatosis, familial cystic 60
familial cystic parathyroid adenomatosis 21
hyperparathyroidism - jaw tumor syndrome 48


External Ids:

OMIM46 145001
ICD10 via Orphanet26 E21.0

Related Diseases for Hyperparathyroidism-Jaw Tumor Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Hyperparathyroidism-Jaw Tumor Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 14)
idRelated DiseaseScoreTop Affiliating Genes
1hyperparathyroidism31.4CDC73, CASR
2parathyroid adenoma30.3CASR, CDC73
3parathyroid carcinoma30.3CDC73, CASR
4primary hyperparathyroidism30.3CASR, CDC73
5adenoma10.2
6ossifying fibroma10.1
7primary hyperoxaluria10.0CASR
8multiple endocrine neoplasia10.0CDC73
9wermer syndrome10.0CASR, CDC73
10hypercalcemia10.0CASR, CDC73
11fibrous dysplasia10.0
12osteosarcoma10.0
13cdc73-related disorders10.0
14cdc73-related familial isolated hyperparathyroidism9.9

Graphical network of diseases related to Hyperparathyroidism-Jaw Tumor Syndrome:



Diseases related to hyperparathyroidism-jaw tumor syndrome

Clinical Features for Hyperparathyroidism-Jaw Tumor Syndrome

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46OMIM
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Clinical features from OMIM:

145001

Clinical synopsis from OMIM:

145001

Drugs & Therapeutics for Hyperparathyroidism-Jaw Tumor Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Hyperparathyroidism-Jaw Tumor Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Hyperparathyroidism-Jaw Tumor Syndrome:

id Genetic test Affiliating Genes
1 Hyperparathyroidism-Jaw Tumor Syndrome20 CDC73
2 Hyperparathyroidism 222

Anatomical Context for Hyperparathyroidism-Jaw Tumor Syndrome

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32MalaCards
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MalaCards organs/tissues related to Hyperparathyroidism-Jaw Tumor Syndrome:

32
Kidney, Bone, Uterus

Animal Models for Hyperparathyroidism-Jaw Tumor Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Hyperparathyroidism-Jaw Tumor Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.1CDC73, CASR

Publications for Hyperparathyroidism-Jaw Tumor Syndrome

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Genetic Variations for Hyperparathyroidism-Jaw Tumor Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Hyperparathyroidism-Jaw Tumor Syndrome:

62
id Symbol AA change Variation ID SNP ID
1CDC73p.Asp379AsnVAR_064936

Expression for genes affiliated with Hyperparathyroidism-Jaw Tumor Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hyperparathyroidism-Jaw Tumor Syndrome

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Pathways for genes affiliated with Hyperparathyroidism-Jaw Tumor Syndrome

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Compounds for genes affiliated with Hyperparathyroidism-Jaw Tumor Syndrome

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GO Terms for genes affiliated with Hyperparathyroidism-Jaw Tumor Syndrome

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Products for genes affiliated with Hyperparathyroidism-Jaw Tumor Syndrome

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  • Antibodies
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Sources for Hyperparathyroidism-Jaw Tumor Syndrome

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet