" /> Hypophosphatemic rickets, autosomal dominant - CISMeF





Preferred Label : Hypophosphatemic rickets, autosomal dominant;

Symbol : ADHR;

CISMeF acronym : ADHR;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Vitamin D-resistant rickets, autosomal dominant; Hypophosphatemia, autosomal dominant;

Description : 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 (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).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the fibroblast growth factor 23 gene (FGF23, 605380.0001);

Laboratory abnormalities : Hypophosphatemia; Normal serum parathyroid hormone (PTH); Increased serum alkaline phosphatase; Normocalcemia; Inappropriately normal serum 1,25-dihydroxyvitamin D3;

Prefixed ID : #193100;

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26/05/2025


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