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GENATLAS PHENOTYPE
last update : 21-08-2015
Symbol ARHP
Location 4q21
Name hypophosphatemia, autosomal recessive
Other name(s) hypophosphatemic rickets
Corresponding gene DMP1
Other symbol(s) ARHR
Main clinical features
  • osteomalacia with coxa vera, genu vara, and rachitic rosary; despite treatment with vitamin D and phosphate supplementations, bowing of the legs did not improve and required repeated osteotomies
  • rickets and osteomalacia with isolated renal phosphate wasting associated with elevated FGF23 levels and normocalciuria
  • Genetic determination autosomal recessive
    Function/system disorder osteo-articular
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    deletion   abnormal protein/loss of function results in defective osteocyte maturation and increased FGF23 expression, leading to pathological changes in bone mineralization
    Remark(s)
  • loss of function of DMP1 associated to defects in odontoblast and osteoblast differentiation, matrix mineralization and hypophosphatemia resulting from elevated levels of circulating fibroblast growth factor 23 (FGF23), a potent phosphaturic hormone (PMID: 22813642))