Hyperparathyroidism 1 (HRPT1)

Alias:
Familial Isolated Hyperparathyroidism
Fihp
Hyperparathyroidism, Familial Primary
Hrpt1
Hyperparathyroidism, Familial, Isolated, Primary
Hyperparathyroidism, Familial Isolated Primary
Hyperparathyroidism, Familial Primary, Type 1
Hyperparathyroidism, Familial, Primary
Parathyroid Adenoma, Familial
Hyperparathyroidism 3
Fihpt
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hyperparathyroidism 1, also known as familial isolated hyperparathyroidism, is related to multiple endocrine neoplasia, type i and hyperparathyroidism 2 with jaw tumors. An important gene associated with Hyperparathyroidism 1 is CDC73 (Cell Division Cycle 73). Affiliated tissues include kidney and bone, and related phenotypes are osteopenia and hypophosphatemia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Adult
--
3
27
35

Medical Symptom

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

Gene & Mutation

#
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
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