Dominant hypophosphatemia

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Dominant hypophosphatemia with nephrolithiasis or osteoporosis

ORPHA:244305Disease

What it is

A rare, genetic renal tubular disease characterized by phosphate loss in the proximal tubule, leading to hypercalciuria and recurrent urolithiasis and/or osteoporosis.

Key facts

Prevalence
<1 / 1 000 000
Age of onset
Adult
Inheritance
Autosomal dominant
Classified as
Disease

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Genes

NHERF1Disease-causing germline mutation(s)
SLC34A1Disease-causing germline mutation(s)

ICD-10 codes

N25.8filed under a broader ICD-10 category — shared with 17 other rare diseases

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.

Benefit programs to look at

Programs whose eligibility touches the same ICD-10 categories. Eligibility is decided by the administering agency, never by this page.

Cross-references

MONDO 0016579OMIM 612286OMIM 612287UMLS C5191009

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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