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Enamel-renal syndrome

ORPHA:1031 · Malformation syndrome · Disorder

HPO 表現型（共 26 項）

Very frequent (99-80%)(10)

  • Abnormal circulating calcium-phosphate regulating hormone concentrationHP:0100530
  • Abnormal dental enamel morphologyHP:0000682
  • Abnormality of dental colorHP:0011073
  • Amelogenesis imperfectaHP:0000705
  • Delayed eruption of teethHP:0000684
  • Gingival overgrowthHP:0000212
  • Increased circulating osteocalcin levelHP:0031428
  • NephrocalcinosisHP:0000121
  • NephropathyHP:0000112
  • Yellow-brown discoloration of the teethHP:0006286

Frequent (79-30%)(10)

  • Elevated circulating alkaline phosphatase concentrationHP:0003155
  • EnuresisHP:0000805
  • Gingival fibromatosisHP:0000169
  • HypocalciuriaHP:0003127
  • HypocitraturiaHP:0012405
  • HypophosphaturiaHP:0012365
  • Impacted toothHP:0011079
  • Impaired renal concentrating abilityHP:0004727
  • Pulp calcificationHP:0003771
  • Renal insufficiencyHP:0000083

Occasional (29-5%)(5)

  • Anterior open-bite malocclusionHP:0009102
  • Decreased serum creatinineHP:0012101
  • MacroglossiaHP:0000158
  • PeriodontitisHP:0000704
  • Tooth agenesisHP:0009804

Very rare (<4-1%)(1)

  • Supernumerary toothHP:0011069