Hypophosphatemic rickets, autosomal dominant

Common Name(s)

Hypophosphatemic rickets, autosomal dominant

Autosomal dominant hypophosphatemic rickets is characterized by isolated renal phosphate wasting, hypophosphatemia, and inappropriately normal 1,25-dihydroxyvitamin D3 (calcitriol) levels. Patients frequently present with bone pain, rickets, and tooth abscesses. In contrast to X-linked dominant hypophosphatemic rickets (XLH; {307800}), ADHR shows incomplete penetrance, variable age at onset (childhood to adult), and resolution of the phosphate-wasting defect in rare cases ({6:Econs et al., 1997}). See also hypophosphatemic bone disease ({146350}). Genetic Heterogeneity of Hypophosphatemic Rickets Other forms of hypophosphatemic rickets include an autosomal recessive forms, i.e., ARHR1 ({241520}), caused by mutation in the DMP1 gene ({600980}) on chromosome 4q21, and ARHR2 ({613312}), caused by mutation in the ENPP1 gene ({173335}) on chromosome 6q22-q23. An X-linked dominant form ({307800}) is caused by mutation in the PHEX gene ({300550}), and an X-linked recessive form ({300554}) is caused by mutation in the CLCN5 gene ({300008}). Clinical Variability of Hypophosphatemic Rickets Hypophosphatemic rickets can be caused by disorders of vitamin D metabolism or action (see VDDR1A, {264700}). A form of hypophosphatemic rickets with hypercalciuria (HHRH; {241530}) is caused by mutation in the SLC34A3 gene ({609826}), and there is evidence that a form of hypophosphatemic rickets with hyperparathyroidism ({612089}) may be caused by a translocation that results in an increase in alpha-klotho levels (KLOTHO; {604824}).
 

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Scientific Literature

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Iron Therapy for Autosomal Dominant Hypophosphatemic Rickets: A Pilot Project.
 

Status: Recruiting

Condition Summary: Autosomal Dominant Hypophosphatemic Rickets

 

Last Updated: 2 Sep 2014

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