hereditary hypophosphatemic rickets with hypercalciuria
Findings
No curated finding names hereditary hypophosphatemic rickets with hypercalciuria yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia.
Definition from the Mondo Disease Ontology (MONDO:0009431), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
25 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.
- Elevated circulating alkaline phosphatase concentrationHPOHP:0003155
- 7 of 7 reported patients
- HypercalciuriaHPO · MondoHP:0002150
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- HypophosphatemiaHPOHP:0002148
- 7 of 7 reported patients
- Very frequent (80% to 99% of cases)
- Hypophosphatemic ricketsHPOHP:0004912
- 7 of 7 reported patients
- Very frequent (80% to 99% of cases)
- Renal phosphate wastingHPOHP:0000117
- 4 of 4 reported patients
- Decreased circulating parathyroid hormone levelHPOHP:0031817
Show the remaining 13
- Bone painHPOHP:0002653
- Frequent (30% to 79% of cases)
- Growth delayHPOHP:0001510
- Frequent (30% to 79% of cases)
- Kidney stoneHPOHP:0000787
- Frequent (30% to 79% of cases)
- Medullary nephrocalcinosisHPOHP:0012408
- Frequent (30% to 79% of cases)
- OsteomalaciaHPOHP:0002749
- Frequent (30% to 79% of cases)
- Reduced bone mineral densityHPOHP:0004349
- Frequent (30% to 79% 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.
- SLC34A3HGNC:20305
- Definitive · Ambry Genetics · Semidominant · 2024
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: hereditary hypophosphatemic rickets with hypercalciuria
- Also called
- HHRHhypercalciuric hypophosphatemic ricketshypophosphatemic hypercalciuric ricketshypophosphatemic rickets with hypercalciuria