Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia.
Comprehensive, easy-to-understand information about this condition
How we create this content →Inheritance patterns describe how genetic conditions are passed from parents to children.
Inheritance patterns describe how genetic conditions are passed from parents to children.
The documentation for autosomal dominant hypophosphatemic rickets is limited primarily due to its extreme rarity, which restricts the number of individuals studied and the availability of comprehensive clinical data. Additionally, the genetic basis was identified relatively recently, and ongoing efforts are needed to better characterize the clinical features associated with this condition. This can be frustrating, but it also highlights the importance of patient experiences in advancing understanding.
To navigate your care effectively, consider consulting with a nephrologist who specializes in hereditary renal disorders. Genetic counseling is also recommended due to the known involvement of the FGF23 gene; you can find a genetic counselor through the National Society of Genetic Counselors at findageneticcounselor.com. While there are currently no patient organizations specifically for ADHR, engaging with broader rare disease communities may provide support and resources. Participating in research studies can also be a valuable way to contribute to the understanding of this condition.
Currently, there are no orphan drug designations for autosomal dominant hypophosphatemic rickets, but there is one active clinical trial. You can explore the details of this trial and see if you might be eligible for participation by visiting the ClinicalTrials.gov search page: https://clinicaltrials.gov/search?cond=autosomal%20dominant%20hypophosphatemic%20rickets. Participation in clinical trials can provide access to new therapies and contribute to research that may benefit others in the future.
Actionable guidance for navigating care for autosomal dominant hypophosphatemic rickets
To navigate your care effectively, consider consulting with a nephrologist who specializes in hereditary renal disorders. Genetic counseling is also recommended due to the known involvement of the FGF23 gene; you can find a genetic counselor through the National Society of Genetic Counselors at findageneticcounselor.com. While there are currently no patient organizations specifically for ADHR, engaging with broader rare disease communities may provide support and resources. Participating in research studies can also be a valuable way to contribute to the understanding of this condition.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Inheritance patterns describe how genetic conditions are passed from parents to children.
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 6, 2026
Consider asking your healthcare providers these condition-specific questions
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Always consult with qualified healthcare providers for medical guidance.
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.