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Unstable beta globin chain variant disease

ORPHA:231226 · Disease · Disorder

HPO 表現型（共 49 項）

Very frequent (99-80%)(2)

  • Persistence of hemoglobin FHP:0011904
  • Reduced hemoglobin AHP:0011905

Frequent (79-30%)(7)

  • AnisocytosisHP:0011273
  • Decreased mean corpuscular hemoglobin concentrationHP:0025547
  • Decreased mean corpuscular volumeHP:0025066
  • Extramedullary hematopoiesisHP:0001978
  • HypersplenismHP:0001971
  • Hypochromic microcytic anemiaHP:0004840
  • PallorHP:0000980

Occasional (29-5%)(30)

  • Abnormal skeletal morphologyHP:0011842
  • Abnormality of iron homeostasisHP:0011031
  • Abnormality of the dentitionHP:0000164
  • ArthralgiaHP:0002829
  • Bowing of the long bonesHP:0006487
  • Chronic hepatitisHP:0200123
  • Chronic infectionHP:0031035
  • CirrhosisHP:0001394
  • Delayed pubertyHP:0000823
  • Diabetes mellitusHP:0000819
  • DiarrheaHP:0002014
  • DyspneaHP:0002094
  • Failure to thrive in infancyHP:0001531
  • Feeding difficultiesHP:0011968
  • Genu valgumHP:0002857
  • Growth delayHP:0001510
  • Hepatic fibrosisHP:0001395
  • HepatosplenomegalyHP:0001433
  • Hyperpigmentation of the skinHP:0000953
  • HypoparathyroidismHP:0000829
  • HypopituitarismHP:0040075
  • Hypoplasia of the musculatureHP:0009004
  • HypothyroidismHP:0000821
  • IrritabilityHP:0000737
  • JaundiceHP:0000952
  • OsteoporosisHP:0000939
  • Recurrent feverHP:0001954
  • Skin ulcerHP:0200042
  • SplenomegalyHP:0001744
  • Venous thrombosisHP:0004936

Very rare (<4-1%)(10)

  • Adrenal insufficiencyHP:0000846
  • ArrhythmiaHP:0011675
  • Depressed nasal bridgeHP:0005280
  • Dilated cardiomyopathyHP:0001644
  • Frontal bossingHP:0002007
  • Hepatocellular carcinomaHP:0001402
  • High-output congestive heart failureHP:0001722
  • Hyperplasia of the maxillaHP:0430028
  • Malar prominenceHP:0010620
  • Upslanted palpebral fissureHP:0000582