autosomal recessive hypophosphatemic rickets
Findings
No curated finding names autosomal recessive hypophosphatemic rickets yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth.
Definition from the Mondo Disease Ontology (MONDO:0017324), read 2026-09-29. CC BY 4.0.
Features
34 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.
- Hypophosphatemic ricketsHPOHP:0004912
- Obligate (100% of cases)
- Abnormal circulating vitamin D concentrationHPOHP:0100511
- Very frequent (80% to 99% of cases)
- Abnormal trabecular bone morphologyHPOHP:0100671
- Very frequent (80% to 99% of cases)
- Abnormality of renal excretionHPOHP:0011036
- Very frequent (80% to 99% of cases)
- Abnormality of the lower limbHPOHP:0002814
- Very frequent (80% to 99% of cases)
- Bone painHPOHP:0002653
- Very frequent (80% to 99% of cases)
- Coxa varaHPOHP:0002812
- Very frequent (80% to 99% of cases)
- Decreased circulating calcitriol concentrationHPOHP:0012052
- Very frequent (80% to 99% of cases)
- Delayed eruption of teethHPOHP:0000684
- Very frequent (80% to 99% of cases)
- Distal femoral bowingHPOHP:0005096
- Very frequent (80% to 99% of cases)
- Elevated alkaline phosphatase of bone originHPOHP:0010639
- Very frequent (80% to 99% of cases)
- Enlargement of the wristsHPOHP:0003020
- Very frequent (80% to 99% of cases)
Reported absent (3)
- Hypocalcemic tetanyHPOHP:0003472
- Muscle weaknessHPOHP:0001324
- SeizureHPOHP:0001250
Show the remaining 22
- Genu varumHPOHP:0002970
- Very frequent (80% to 99% of cases)
- Growth delayHPOHP:0001510
- Very frequent (80% to 99% of cases)
- HyperphosphaturiaHPOHP:0003109
- Very frequent (80% to 99% of cases)
- Increased bone mineral densityHPOHP:0011001
- Very frequent (80% to 99% of cases)
- Lower limb asymmetryHPOHP:0100559
- Very frequent (80% to 99% of cases)
- OsteomalaciaHPOHP:0002749
- Very frequent (80% to 99% of cases)
Genes
2 genes
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.
Where it sits
Other names
4 names
Resolves to: autosomal recessive hypophosphatemic rickets
- Also called
- ARHRautosomal recessive hereditary hypophosphatemic ricketshereditary hypophosphatemic rickets, autosomal recessivehypophosphatemic rickets, autosomal recessive