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Hypocalcemic vitamin D-dependent rickets

ORPHA:289157 · Disease · Disorder

HPO 表現型（共 46 項）

Obligate (100%)(3)

  • Decreased circulating calcitriol concentrationHP:0012052
  • HypocalcemiaHP:0002901
  • RicketsHP:0002748

Very frequent (99-80%)(28)

  • Bone painHP:0002653
  • Deformed rib cageHP:0000886
  • Delayed epiphyseal ossificationHP:0002663
  • Elevated alkaline phosphatase of bone originHP:0010639
  • Elevated circulating parathyroid hormone levelHP:0003165
  • Enlargement of the anklesHP:0003029
  • Enlargement of the costochondral junctionHP:0000920
  • Enlargement of the wristsHP:0003020
  • Failure to thriveHP:0001508
  • Femoral bowingHP:0002980
  • Flat occiputHP:0005469
  • Generalized aminoaciduriaHP:0002909
  • Genu varumHP:0002970
  • HypophosphatemiaHP:0002148
  • Increased susceptibility to fracturesHP:0002659
  • Irregular, rachitic-like metaphysesHP:0005042
  • Motor delayHP:0001270
  • Muscle weaknessHP:0001324
  • OsteomalaciaHP:0002749
  • Postnatal growth retardationHP:0008897
  • Rachitic rosaryHP:0000897
  • Secondary hyperparathyroidismHP:0000867
  • Sparse bone trabeculaeHP:0002752
  • Subperiosteal bone resorptionHP:0003106
  • TetanyHP:0001281
  • Thin bony cortexHP:0002753
  • Tibial bowingHP:0002982
  • Wide cranial suturesHP:0010537

Frequent (79-30%)(7)

  • CardiomyopathyHP:0001638
  • Elevated circulating alkaline phosphatase concentrationHP:0003155
  • Frontal bossingHP:0002007
  • Gait disturbanceHP:0001288
  • Generalized hypotoniaHP:0001290
  • Hypochromic anemiaHP:0001931
  • Short statureHP:0004322

Occasional (29-5%)(8)

  • Delayed eruption of teethHP:0000684
  • Enamel hypoplasiaHP:0006297
  • HepatomegalyHP:0002240
  • Hypocalcemic seizuresHP:0002199
  • Increased total leukocyte countHP:0001974
  • IrritabilityHP:0000737
  • Protuberant abdomenHP:0001538
  • SplenomegalyHP:0001744