hypophosphatemic rickets
Findings
No curated finding names hypophosphatemic rickets yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Rickets due to low serum phosphate concentrations, the cause of which can be nutritional or genetic. This condition is characterized by normal parathyroid hormone concentrations, usually caused by renal phosphate wasting occurring in isolation or as part of a renal tubular disorder, and characterized by resistance to treatment with ultraviolet radiation or vitamin D.
Definition from the Mondo Disease Ontology (MONDO:0024300), read 2026-09-29. CC BY 4.0.
Features
2 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, hp/releases/2026-09-01.
- HypophosphatemiaMondoHP:0002148
- RicketsMondoHP:0002748
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.
- SGK3HGNC:10812
- Limited · Ambry Genetics · Autosomal dominant · 2019
- Limited · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
- Narrower terms (1)
Other names
1 name
Resolves to: hypophosphatemic rickets
- Also called
- Phosphopenic rickets