Hyperparathyroidism 2 with Jaw Tumors (HRPT2)

Alias:
Hyperparathyroidism-Jaw Tumor Syndrome
Hpt-Jt
Hrpt2
Familial Primary Hyperparathyroidism with Multiple Ossifying Jaw Fibromas
Parathyroid Adenoma with Cystic Changes
Hyperparathyroidism, Familial Primary, with Multiple Ossifying Jaw Fibromas
Hyperparathyroidism-Jaw Tumor Syndrome, Hereditary
Hereditary Hyperparathyroidism-Jaw Tumor Syndrome
Hyperparathyroidism-Jaw Tumor Syndrome, Type 2
Parathyroid Adenomatosis, Familial Cystic
Familial Cystic Parathyroid Adenomatosis
Hyperparathyroidism 2
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hyperparathyroidism 2 with Jaw Tumors, also known as hyperparathyroidism-jaw tumor syndrome, is related to hyperparathyroidism 1 and hyperparathyroidism. An important gene associated with Hyperparathyroidism 2 with Jaw Tumors is CDC73 (Cell Division Cycle 73), and among its related pathways/superpathways are Gene expression (Transcription) and Signal Transduction. Affiliated tissues include kidney and thyroid, and related phenotypes are hypercalcemia and parathyroid adenoma
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Adolescent
<1/1000000
6
100
22

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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