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Pseudohypoparathyroidism type 1B

ORPHA:94089 · Disease · Disorder

HPO 表現型（共 39 項）

Obligate (100%)(1)

  • PseudohypoparathyroidismHP:0000852

Very frequent (99-80%)(4)

  • Elevated circulating parathyroid hormone levelHP:0003165
  • HyperphosphatemiaHP:0002905
  • HypocalcemiaHP:0002901
  • Low urinary cyclic AMP response to PTH administrationHP:0003456

Frequent (79-30%)(9)

  • CataractHP:0000518
  • Delayed eruption of teethHP:0000684
  • Depressed nasal bridgeHP:0005280
  • Enamel hypoplasiaHP:0006297
  • Full cheeksHP:0000293
  • NystagmusHP:0000639
  • Round faceHP:0000311
  • Short neckHP:0000470
  • Short statureHP:0004322

Occasional (29-5%)(19)

  • Abdominal symptomHP:0011458
  • AnxietyHP:0000739
  • Chest painHP:0100749
  • ConjunctivitisHP:0000509
  • Cortical subperiosteal resorption of humeral metaphysesHP:0003909
  • DepressionHP:0000716
  • Diaphyseal sclerosisHP:0003034
  • DyskinesiaHP:0100660
  • DyspneaHP:0002094
  • Hypocalcemic tetanyHP:0003472
  • HyporeflexiaHP:0001265
  • Increased bone density with cystic changesHP:0005700
  • Increased bone mineral densityHP:0011001
  • IrritabilityHP:0000737
  • Laryngeal dystoniaHP:0012049
  • Muscle spasmHP:0003394
  • Myoclonic spasmsHP:0003739
  • ParesthesiaHP:0003401
  • Prolonged QT intervalHP:0001657

Very rare (<4-1%)(3)

  • Decreased response to growth hormone stimulation testHP:0000824
  • Hypocalcemic seizuresHP:0002199
  • Pituitary resistance to thyroid hormoneHP:0008227

Excluded (0%)(3)

  • Autoimmune antibody positivityHP:0030057
  • CalcinosisHP:0003761
  • Ectopic calcificationHP:0010766