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GENATLAS PHENOTYPE
last update : 11-10-2016
Symbol PDDR
Location 12q14.1
Name pseudo-vitamin D deficiency rickets, type I
Other name(s)
  • 25 (OH) D3-1 alpha hydroxylase deficiency
  • vitamin d-dependent rickets, type I
  • 1@-alpha, 25-hydroxyvitamin d3 deficiency, selective
    • Corresponding gene CYP27B1
    Other symbol(s) VDD1, VDDR, VDDR1A
    Main clinical features
  • hypotonia, muscle weakness, growth failure, hypocalcemic seizures in early infancy, and radiographic findings of rickets
  • hypocalcemia, increased serum concentrations of PTH, enamel hypoplasia, ultrastructural anomalies of enamel and dentin, and low or undetectable serum concentrations of 1,25(OH)2D despite normal or increased concentrations of 25OHD
    • Genetic determination autosomal recessive
    Function/system disorder osteo-articular
    metabolism/vitamin
    Type disease
    Gene product
    Name 25(OH)D3-1 alpha hydroxylase (CYP25D1A defect)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function mutation destroying the tertiary structure of the substrate-heme pocket
    Remark(s) 958delG and seven-nucleotide duplication/insertion in exon 8 are mostly frequent