Hypocalciuric Hypercalcemia, Familial, Type I (HHC1)

Alias:
Familial Hypocalciuric Hypercalcemia 1
Hypocalciuric Hypercalcemia, Type I
Familial Benign Hypercalcemia 1
Hypercalcemia, Familial Benign
Fhh Type 1
Hhc1
Familial Hypocalciuric Hypercalcemia Type 1
Hypocalciuric Hypercalcemia Type I
Fhh1
Fbh1
Hhc
Fhh
Familial Benign Hypocalciuric Hypercalcemia 1
Hypocalciuric Hypercalcemia, Familial, Type 1
Familial Hypocalciuric Hypercalcemia Type I
Hypocalciuric Hypercalcemia, Familial 1
Hypercalcemia, Familial Benign Type 1
Fbhh1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hypocalciuric Hypercalcemia, Familial, Type I, also known as familial hypocalciuric hypercalcemia 1, is related to hypocalciuric hypercalcemia, familial, type iii and familial hypocalciuric hypercalcemia. An important gene associated with Hypocalciuric Hypercalcemia, Familial, Type I is CASR (Calcium Sensing Receptor), and among its related pathways/superpathways are Signal Transduction and Signaling by WNT. Affiliated tissues include bone and kidney, and related phenotypes are hypercalciuria and hypercalcemia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
All ages
1-9/100000
10
61
76

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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