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Bloom syndrome

ORPHA:125 · Disease · Disorder

HPO 表現型（共 67 項）

Very frequent (99-80%)(7)

  • Abnormality of the immune systemHP:0002715
  • Adipose tissue lossHP:0008887
  • Decreased circulating immunoglobulin concentrationHP:0004313
  • Growth delayHP:0001510
  • Intrauterine growth retardationHP:0001511
  • Severe postnatal growth retardationHP:0008850
  • Small for gestational ageHP:0001518

Frequent (79-30%)(22)

  • Abnormal total CD8+ T cell numberHP:0031393
  • Cafe-au-lait spotHP:0000957
  • Cutaneous photosensitivityHP:0000992
  • Decreased circulating IgA concentrationHP:0002720
  • Decreased circulating IgG concentrationHP:0004315
  • Decreased circulating IgM concentrationHP:0002850
  • Decreased head circumferenceHP:0040195
  • Decreased total CD4+ T cell proportionHP:0032218
  • Gastroesophageal refluxHP:0002020
  • Hypopigmentation of the skinHP:0001010
  • Insulin resistanceHP:0000855
  • Malar flatteningHP:0000272
  • Male infertilityHP:0003251
  • MicrognathiaHP:0000347
  • Narrow faceHP:0000275
  • NeoplasmHP:0002664
  • Otitis mediaHP:0000388
  • Poor appetiteHP:0004396
  • Premature ovarian insufficiencyHP:0008209
  • Recurrent infectionsHP:0002719
  • RetrognathiaHP:0000278
  • Skin rashHP:0000988

Occasional (29-5%)(33)

  • Abdominal obesityHP:0012743
  • Abnormal blistering of the skinHP:0008066
  • AbscessHP:0025615
  • Acute lymphoblastic leukemiaHP:0006721
  • Acute myeloid leukemiaHP:0004808
  • AzoospermiaHP:0000027
  • BronchitisHP:0012387
  • CheilitisHP:0100825
  • Chronic pulmonary obstructionHP:0006510
  • Diabetes mellitusHP:0000819
  • Gastrostomy tube feeding in infancyHP:0011471
  • LymphomaHP:0002665
  • Malignant genitourinary tract tumorHP:0006758
  • MyelodysplasiaHP:0002863
  • Neoplasm of the breastHP:0100013
  • Neoplasm of the colonHP:0100273
  • Neoplasm of the skinHP:0008069
  • OligozoospermiaHP:0000798
  • ParonychiaHP:0001818
  • Patchy alopeciaHP:0002232
  • PneumoniaHP:0002090
  • PoikilodermaHP:0001029
  • Recurrent gastroenteritisHP:0031123
  • Recurrent herpesHP:0005353
  • Recurrent tonsillitisHP:0011110
  • Recurrent urinary tract infectionsHP:0000010
  • Respiratory tract infectionHP:0011947
  • RhinitisHP:0012384
  • Severe Toxoplasma infectionHP:0020105
  • Severe varicella zoster infectionHP:0032170
  • Sparse eyelashesHP:0000653
  • TelangiectasiaHP:0001009
  • UveitisHP:0000554

Very rare (<4-1%)(5)

  • Esophageal neoplasmHP:0100751
  • NephroblastomaHP:0002667
  • Respiratory failureHP:0002878
  • RetinopathyHP:0000488
  • Stomach cancerHP:0012126