autosomal dominant hypophosphatemic rickets
Findings
No curated finding names autosomal dominant hypophosphatemic rickets yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia.
Definition from the Mondo Disease Ontology (MONDO:0008660), read 2026-09-29. CC BY 4.0.
Features
15 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- HyperphosphaturiaHPOHP:0003109
- Very frequent (80% to 99% of cases)
- HypophosphatemiaHPOHP:0002148
- Very frequent (80% to 99% of cases)
- Bone painHPOHP:0002653
- Frequent (30% to 79% of cases)
- Bowing of the legsHPOHP:0002979
- Frequent (30% to 79% of cases)
- Decreased circulating vitamin D concentrationHPOHP:0100512
- Frequent (30% to 79% of cases)
- Elevated circulating alkaline phosphatase concentrationHPOHP:0003155
- Frequent (30% to 79% of cases)
- FatigueHPOHP:0012378
- Frequent (30% to 79% of cases)
- Growth delayHPOHP:0001510
- Frequent (30% to 79% of cases)
- Iron deficiency anemiaHPOHP:0001891
- Frequent (30% to 79% of cases)
- Muscle weaknessHPOHP:0001324
- Frequent (30% to 79% of cases)
- OsteomalaciaHPOHP:0002749
- Frequent (30% to 79% of cases)
- RicketsHPOHP:0002748
- Frequent (30% to 79% of cases)
Show the remaining 3
- Tooth abscessHPOHP:0030757
- Frequent (30% to 79% of cases)
- Bone fractureHPOHP:0020110
- Occasional (5% to 29% of cases)
- HypocalcemiaHPOHP:0002901
- Very rare (1% to 4% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- FGF23HGNC:3680
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
5 names
Resolves to: autosomal dominant hypophosphatemic rickets
- Also called
- ADHRautosomal dominant hereditary hypophosphatemic ricketsautosomal dominant hypophosphatemiahereditary hypophosphatemic rickets, autosomal dominanthypophosphatemic rickets, autosomal dominant