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Table 1 Causes of rickets/osteomalacia.

From: Fibroblast Growth Factor 23 (FGF23) and Disorders of Phosphate Metabolism

 

Genetic diseases

FGF23-related rickets

Autosomal dominant hypophosphatemic rickets/osteomalacia

 

(mutations in FGF23 gene)

 

Autosomal recessive hypophosphatemic rickets/osteomalacia

 

(mutations in DMP1 gene)

 

X-linked hypophosphatemic rickets/osteomalacia

 

(mutations in PHEX gene)

 

McCune-Albright syndrome/Fibrous dysplasia

 

(somatic mutations in GNAS1 gene)

Deficient action of 1,25(OH)2D

Vitamin D-dependent rickets type 1

 

(mutations in CYP27B1 gene)

 

Vitamin D-dependent rickets type 2 (mutations in VDR gene)

Dysfunction of renal tubules

Fanconi syndrome

 

Dent disease (mutations in CLCN5 gene)

 

Some renal tubular acidosis

Others

Hereditary hypophosphatemic rickets/osteomalacia with hypercalcemia

 

(mutations in SLC34A3 gene)

 

Hypophosphatasia (mutations in TNALP gene)

 

Acquired diseases

FGF23-related rickets/osteomalacia

Tumor-induced hypophosphatemic rickets/osteomalacia

Deficiency of vitamin D or phosphate

Premature birth

 

Undernutrition

 

Vitamin D deficiency, shortage of daylight

Drug-induced rickets/osteomalacia

Antiepileptic drugs, Saccharated ferric oxide (Iron polymaltose), Aluminum, and so forth

Others

Chronic renal disease, and so forth

  1. FGF23: fibroblast growth factor 23; DMP1: dentin matrix protein 1; PHEX: phosphate-regulating gene with homologies to endopeptidases on the X chromosome; VDR: vitamin D receptor; GNAS1: guanine nucleotide binding protein, alpha stimulating 1; TNALP: Tissue nonspecific alkaline phosphatase.