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Pseudohypoparathyroidism type 1A

ORPHA:79443 · Disease · Disorder

HPO 表現型（共 68 項）

Obligate (100%)(1)

  • PseudohypoparathyroidismHP:0000852

Very frequent (99-80%)(7)

  • Elevated circulating parathyroid hormone levelHP:0003165
  • HyperphosphatemiaHP:0002905
  • HypocalcemiaHP:0002901
  • Low urinary cyclic AMP response to PTH administrationHP:0003456
  • Pituitary resistance to thyroid hormoneHP:0008227
  • Round faceHP:0000311
  • Short statureHP:0004322

Frequent (79-30%)(24)

  • Basal ganglia calcificationHP:0002135
  • BrachydactylyHP:0001156
  • Broad 1st metacarpalHP:0010027
  • CataractHP:0000518
  • Choroid plexus calcificationHP:0006960
  • Constrictive median neuropathyHP:0012185
  • Decreased response to growth hormone stimulation testHP:0000824
  • Delayed eruption of teethHP:0000684
  • Depressed nasal bridgeHP:0005280
  • Ectopic ossificationHP:0011986
  • Enamel hypoplasiaHP:0006297
  • Full cheeksHP:0000293
  • Increased bone mineral densityHP:0011001
  • Intellectual disabilityHP:0001249
  • NystagmusHP:0000639
  • ObesityHP:0001513
  • PolyphagiaHP:0002591
  • Short 4th metacarpalHP:0010044
  • Short 5th metacarpalHP:0010047
  • Short fifth metatarsalHP:0004704
  • Short metacarpalHP:0010049
  • Short metatarsalHP:0010743
  • Short neckHP:0000470
  • Thickened calvariaHP:0002684

Occasional (29-5%)(32)

  • Abdominal symptomHP:0011458
  • Abnormal platelet functionHP:0011869
  • AnxietyHP:0000739
  • Band keratopathyHP:0000585
  • Broad distal phalanx of the thumbHP:0009642
  • CalcinosisHP:0003761
  • Cerebral calcificationHP:0002514
  • Chest painHP:0100749
  • ChoreoathetosisHP:0001266
  • ConfusionHP:0001289
  • ConjunctivitisHP:0000509
  • DepressionHP:0000716
  • DyspneaHP:0002094
  • Hypergonadotropic hypogonadismHP:0000815
  • Hyperostosis frontalis internaHP:0004438
  • HypertensionHP:0000822
  • Hypocalcemic tetanyHP:0003472
  • HyporeflexiaHP:0001265
  • Involuntary movementsHP:0004305
  • IrritabilityHP:0000737
  • Laryngeal dystoniaHP:0012049
  • Muscle spasmHP:0003394
  • Myoclonic spasmsHP:0003739
  • OligomenorrheaHP:0000876
  • Osteoma cutisHP:0025027
  • ParesthesiaHP:0003401
  • Prolonged QT intervalHP:0001657
  • Reduced bone mineral densityHP:0004349
  • Sensorineural hearing impairmentHP:0000407
  • Short 3rd metacarpalHP:0010041
  • Spinal cord compressionHP:0002176
  • StrabismusHP:0000486

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

  • Elevated circulating calcitonin concentrationHP:0003528
  • Hypocalcemic seizuresHP:0002199
  • Reduced circulating prolactin concentrationHP:0008202

Excluded (0%)(1)

  • Autoimmune antibody positivityHP:0030057