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Diamond-Blackfan anemia

ORPHA:124 · Disease · Disorder

HPO 表現型（共 59 項）

Very frequent (99-80%)(2)

  • Elevated red cell adenosine deaminase activityHP:0030270
  • Pure red cell aplasiaHP:0012410

Frequent (79-30%)(10)

  • Abnormality of the headHP:0000234
  • Erythroid hypoplasiaHP:0012133
  • Growth delayHP:0001510
  • Increased mean corpuscular volumeHP:0005518
  • LethargyHP:0001254
  • Macrocytic dyserythropoietic anemiaHP:0005532
  • PallorHP:0000980
  • Persistence of hemoglobin FHP:0011904
  • ReticulocytopeniaHP:0001896
  • Small for gestational ageHP:0001518

Occasional (29-5%)(25)

  • Abnormal heart morphologyHP:0001627
  • Abnormality of the genitourinary systemHP:0000119
  • Abnormality of the thenar eminenceHP:0001227
  • Abnormality of the upper limbHP:0002817
  • Absent thumbHP:0009777
  • Atrial septal defectHP:0001631
  • Cleft lipHP:0410030
  • Cleft soft palateHP:0000185
  • Decreased total leukocyte countHP:0001882
  • High palateHP:0000218
  • Horseshoe kidneyHP:0000085
  • HypospadiasHP:0000047
  • MyelodysplasiaHP:0002863
  • Neurodevelopmental delayHP:0012758
  • Normochromic anemiaHP:0001895
  • Partial duplication of thumb phalanxHP:0009944
  • Radial artery aplasiaHP:0020118
  • Renal agenesisHP:0000104
  • Short neckHP:0000470
  • Short statureHP:0004322
  • Short thumbHP:0009778
  • Sprengel anomalyHP:0000912
  • Triphalangeal thumbHP:0001199
  • Ventricular septal defectHP:0001629
  • Webbed neckHP:0000465

Very rare (<4-1%)(22)

  • Acute myeloid leukemiaHP:0004808
  • Adenocarcinoma of the colonHP:0040276
  • Coarctation of aortaHP:0001680
  • Decreased total neutrophil countHP:0001875
  • Depressed nasal bridgeHP:0005280
  • Developmental cataractHP:0000519
  • Developmental glaucomaHP:0001087
  • EpicanthusHP:0000286
  • HypertelorismHP:0000316
  • Low anterior hairlineHP:0000294
  • Low-set earsHP:0000369
  • Malignant genitourinary tract tumorHP:0006758
  • MicrocephalyHP:0000252
  • MicrognathiaHP:0000347
  • MicrotiaHP:0008551
  • Nonimmune hydrops fetalisHP:0001790
  • OsteosarcomaHP:0002669
  • PtosisHP:0000508
  • StrabismusHP:0000486
  • ThrombocytopeniaHP:0001873
  • ThrombocytosisHP:0001894
  • Wide nasal bridgeHP:0000431