Familial Hypocalciuric Hypercalcemia (FBH)

Alias:
Familial Benign Hypercalcemia
Familial Benign Hypocalciuric Hypercalcemia
Fbhh
Fhh
Fbh
Hypocalciuric Hypercalcemia, Familial, Type 1
Hypocalciuric Hypercalcemia, Familial
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Familial Hypocalciuric Hypercalcemia, also known as familial benign hypercalcemia, is related to hypocalciuric hypercalcemia, familial, type iii and hypocalciuric hypercalcemia, familial, type i. An important gene associated with Familial Hypocalciuric Hypercalcemia is CASR (Calcium Sensing Receptor), and among its related pathways/superpathways are Signal Transduction and Vitamin D receptor pathway. Affiliated tissues include bone and pancreas, and related phenotypes are hypercalcemia and hypocalciuria
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
All ages
--
22
202
140

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
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