Hypophosphatemic Rickets, X-Linked Recessive (XLRHR)

Alias:
Hypophosphatemic Rickets
X-Linked Recessive Hypophosphatemic Rickets
Rickets, Hypophosphatemic, X-Linked Recessive
Hypophosphatemic Rickets Disorders
Familial Hypophosphatemic Rickets
Rickets Hypophosphatemic
Xlrhr
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hypophosphatemic Rickets, X-Linked Recessive, also known as hypophosphatemic rickets, is related to hypophosphatemic rickets, autosomal dominant and dent disease 1. An important gene associated with Hypophosphatemic Rickets, X-Linked Recessive is CLCN5 (Chloride Voltage-Gated Channel 5), and among its related pathways/superpathways are Vitamin D receptor pathway and Non-genomic actions of 1,25 dihydroxyvitamin D3. The drugs Cholecalciferol and Antibodies, Monoclonal have been mentioned in the context of this disorder. Affiliated tissues include bone and kidney, and related phenotypes are short stature and hypophosphatemia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
XL
XLD
AR
XLR
All ages
--
25
189
7

Medical Symptom

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

Gene & Mutation

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Function
Score
Mutations
No data available

Related Drugs

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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
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IF
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