Hypophosphatemic Rickets, Autosomal Dominant (ADHR)

Alias:
Autosomal Dominant Hypophosphatemic Rickets
Adhr
Autosomal Dominant Hypophosphatemia
Vitamin D-Resistant Rickets, Autosomal Dominant
Autosomal Dominant Vitamin D-Resistant Rickets
Rickets, Hypophosphatemic, Autosomal Dominant
Hypophosphatemia, Autosomal Dominant
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hypophosphatemic Rickets, Autosomal Dominant, also known as autosomal dominant hypophosphatemic rickets, is related to secondary hyperparathyroidism and hyperparathyroidism. An important gene associated with Hypophosphatemic Rickets, Autosomal Dominant is FGF23 (Fibroblast Growth Factor 23), and among its related pathways/superpathways are Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) and Signaling by FGFR2. The drugs Ferrous gluconate and Iron have been mentioned in the context of this disorder. Affiliated tissues include bone and kidney, and related phenotypes are hypophosphatemia and hyperphosphaturia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Infant
<1/1000000
14
120
36

Medical Symptom

#
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

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PMID
Journal
Year
IF
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