HRPT2
MCID: HYP108
MIFTS: 24

Hyperparathyroidism-Jaw Tumor Syndrome (HRPT2) malady

Nephrological, Endocrine, Cancer, Oral, Genetic categories

Summaries for Hyperparathyroidism-Jaw Tumor Syndrome

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 parathyroid carcinoma and primary hyperparathyroidism. An important gene associated with Hyperparathyroidism-Jaw Tumor Syndrome is CDC73 (cell division cycle 73). Affiliated tissues include kidney 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:47 145001

Aliases & Classifications for Hyperparathyroidism-Jaw Tumor Syndrome

Sources:
43NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 47OMIM, 61UMLS, 49Orphanet, 45Novoseek, 22GTR, 26ICD10 via Orphanet
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Classifications:

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


Aliases & Descriptions:

hyperparathyroidism-jaw tumor syndrome 43 20 21 47 61
hyperparathyroidism 2 43 22 21
hpt-jt 43 21 49
familial primary hyperparathyroidism with multiple ossifying jaw fibromas 43 21
hereditary hyperparathyroidism-jaw tumor syndrome 43 21
hrpt2 43 45
parathyroid adenomatosis, familial cystic 61
familial cystic parathyroid adenomatosis 21
hyperparathyroidism - jaw tumor syndrome 49


External Ids:

OMIM47 145001
ICD10 via Orphanet26 E21.0

Related Diseases for Hyperparathyroidism-Jaw Tumor Syndrome

Sources:
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 15)
idRelated DiseaseScoreTop Affiliating Genes
1parathyroid carcinoma30.3CASR, CDC73
2primary hyperparathyroidism30.3CASR, CDC73
3n syndrome10.5
4adenoma10.3
5familial isolated hyperparathyroidism10.3
6kid syndrome10.3
7ossifying fibroma10.1
8fibrous dysplasia10.0
9cdc73-related disorders10.0
10primary hyperoxaluria10.0CASR
11multiple endocrine neoplasia10.0CDC73
12wermer syndrome10.0CASR, CDC73
13parathyroid adenoma10.0CDC73, CASR
14hypercalcemia10.0CASR, CDC73
15hyperparathyroidism10.0CASR, CDC73

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



Diseases related to hyperparathyroidism-jaw tumor syndrome

Clinical Features for Hyperparathyroidism-Jaw Tumor Syndrome

Sources:
47OMIM
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Clinical features from OMIM:

145001

Clinical synopsis from OMIM:

145001

Drugs & Therapeutics for Hyperparathyroidism-Jaw Tumor Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Hyperparathyroidism-Jaw Tumor Syndrome

Drug clinical trials:

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Search NIH Clinical Center for Hyperparathyroidism-Jaw Tumor Syndrome

Search CenterWatch for Hyperparathyroidism-Jaw Tumor Syndrome

Genetic Tests for Hyperparathyroidism-Jaw Tumor Syndrome

Sources:
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

Sources:
33MalaCards
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MalaCards organs/tissues related to Hyperparathyroidism-Jaw Tumor Syndrome:

33
Kidney, Uterus

Animal Models for Hyperparathyroidism-Jaw Tumor Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Hyperparathyroidism-Jaw Tumor Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.1CDC73, CASR

Publications for Hyperparathyroidism-Jaw Tumor Syndrome

Genetic Variations for Hyperparathyroidism-Jaw Tumor Syndrome

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Hyperparathyroidism-Jaw Tumor Syndrome:

63
id Symbol AA change Variation SNP ID
1CDC73p.Asp379AsnVAR_064936

Expression for genes affiliated with Hyperparathyroidism-Jaw Tumor Syndrome

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

Search GEO for disease gene expression data for Hyperparathyroidism-Jaw Tumor Syndrome.

Pathways for genes affiliated with Hyperparathyroidism-Jaw Tumor Syndrome

Compounds for genes affiliated with Hyperparathyroidism-Jaw Tumor Syndrome

GO Terms for genes affiliated with Hyperparathyroidism-Jaw Tumor Syndrome

Products for genes affiliated with Hyperparathyroidism-Jaw Tumor Syndrome

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  • Lysates
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Sources for Hyperparathyroidism-Jaw Tumor Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet