X-linked dominant hypophosphatemic rickets
Findings
No curated finding names X-linked dominant hypophosphatemic rickets yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth.
Definition from the Mondo Disease Ontology (MONDO:0010619), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
60 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.
- Bowing of the legsHPOHP:0002979
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Cupped metaphyses of hand bonesHPOHP:0004273
- 1 of 1 reported patient
- Delayed ability to walkHPOHP:0031936
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Delayed gross motor developmentHPOHP:0002194
- 1 of 1 reported patient
- Elevated circulating alkaline phosphatase concentrationHPOHP:0003155
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Femoral bowingHPOHP:0002980
- 1 of 1 reported patient
Show the remaining 48
- RicketsHPOHP:0002748
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- Tibial bowingHPOHP:0002982
- 1 of 1 reported patient
- Waddling gaitHPOHP:0002515
- 1 of 1 reported patient
- Abnormal lower-limb metaphysis morphologyHPOHP:0006490
- Very frequent (80% to 99% of cases)
- HypocalciuriaHPOHP:0003127
- Very frequent (80% to 99% of cases)
- Renal phosphate wastingHPOHP:0000117
- Very frequent (80% to 99% 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.
- PHEXHGNC:8918
- Definitive · ClinGen · X-linked · 2025
- Definitive · Illumina · X-linked · 2019
- Definitive · G2P · X-linked · 2025
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2023
- Strong · PanelApp Australia · X-linked · 2025
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
7 names
Resolves to: X-linked dominant hypophosphatemic rickets
- Also called
- hereditary hypophosphatemic rickets, X-linkedhypophosphatemic rickets, X-linkedhypophosphatemic rickets, X-linked dominant, X-linked dominantrickets, vitamin D-resistantvitamin D-resistant rickets, X-linkedX-linked hereditary hypophosphatemic ricketsXLH