Primary Hyperparathyroidism

Alias:
Familial Primary Hyperparathyroidism
Hyperparathyroidism, Primary
Hypocalciuric Hypercalcemia, Familial, Type 1
Familial Benign Hypercalcemia
Familial Hyperparathyroidism
Hyperparathyroidism Primary
Parathyroid Enlargement
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Primary Hyperparathyroidism, also known as familial primary hyperparathyroidism, is related to hyperparathyroidism, neonatal severe and hyperparathyroidism 2 with jaw tumors. An important gene associated with Primary Hyperparathyroidism is MEN1 (Menin 1), and among its related pathways/superpathways are Signal Transduction and G alpha (s) signalling events. The drugs Salmon calcitonin and Cinacalcet have been mentioned in the context of this disorder. Affiliated tissues include bone and kidney, and related phenotypes are homeostasis/metabolism and endocrine/exocrine gland
Related ID:
MESH:D049950
ICD11:817194045

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Child
--
40
627
2

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

Name
CAS Number
Status
Phase
No data available

Disease Model

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

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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