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Start free with EleplanAutosomal recessive hypophosphatemic rickets
ORPHA:289176Disease
Also called ARHR
What it is
A rare, autosomal recessive renal phosphate-wasting disorder characterized by childhood-onset hypophosphatemia that clinically manifests with rickets and/or osteomalacia, slow growth/short stature, bone pain and skeletal deformities. Additional findings may include fatigue, muscle weakness and repeated bone fractures.
Key facts
- Age of onset
- Childhood, Infancy
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Signs and symptoms
Very common80–99%
25- Abnormality of renal excretion
- Abnormality of the lower limb
- Abnormality of vitamin D metabolism
- Abnormal trabecular bone morphology
- Bone pain
- Coxa vara
- Delayed eruption of teeth
- Distal femoral bowing
- Elevated alkaline phosphatase of bone origin
- Enlargement of the wrists
- Genu varum
- Growth delay
- Hyperphosphaturia
- Increased bone mineral density
- Lower limb asymmetry
- Low serum calcitriol
- Osteomalacia
- Polyarticular arthritis
- Renal hypophosphatemia
- Renal phosphate wasting
- Rickets of the lower limbs
- Sclerotic vertebral endplates
- Sensorineural hearing impairment
- Short stature
- Skeletal dysplasia
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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