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Shwachman-Diamond syndrome

ORPHA:811 · Disease · Disorder

HPO 表現型（共 69 項）

Very frequent (99-80%)(7)

  • Abnormality of blood and blood-forming tissuesHP:0001871
  • Abnormality of the gastrointestinal tractHP:0011024
  • Abnormality of the skeletal systemHP:0000924
  • AnemiaHP:0001903
  • Decreased total neutrophil countHP:0001875
  • Exocrine pancreatic insufficiencyHP:0001738
  • Fat malabsorptionHP:0002630

Frequent (79-30%)(22)

  • Atypical behaviorHP:0000708
  • Decreased circulating vitamin D concentrationHP:0100512
  • Decreased circulating vitamin E concentrationHP:0100513
  • Decreased circulating vitamin K concentrationHP:0011892
  • Delayed skeletal maturationHP:0002750
  • Failure to thriveHP:0001508
  • Growth delayHP:0001510
  • HypoamylasemiaHP:0410289
  • Impaired neutrophil chemotaxisHP:0040238
  • Increased mean corpuscular volumeHP:0005518
  • Increased serum bile acid concentrationHP:0012202
  • Macrocytic anemiaHP:0001972
  • MalnutritionHP:0004395
  • MyelodysplasiaHP:0002863
  • Normocytic anemiaHP:0001897
  • Pancreatic hypoplasiaHP:0002594
  • Persistently decreased total neutrophil countHP:0410252
  • Reduced circulating vitamin A concentrationHP:0004905
  • Short statureHP:0004322
  • SteatorrheaHP:0002570
  • ThrombocytopeniaHP:0001873
  • Transiently decreased total neutrophil countHP:0410255

Occasional (29-5%)(24)

  • Abnormal heart morphologyHP:0001627
  • Abnormal joint morphologyHP:0001367
  • Abnormality of the thoracic cavityHP:0045027
  • Acute myeloid leukemiaHP:0004808
  • Aplastic anemiaHP:0001915
  • Autistic behaviorHP:0000729
  • Bone marrow hypocellularityHP:0005528
  • Carious teethHP:0000670
  • Decreased total leukocyte countHP:0001882
  • Deformed rib cageHP:0000886
  • Intellectual disabilityHP:0001249
  • LeukemiaHP:0001909
  • Metaphyseal chondrodysplasiaHP:0005871
  • Metaphyseal irregularityHP:0003025
  • Metaphyseal wideningHP:0003016
  • OsteopeniaHP:0000938
  • PancytopeniaHP:0001876
  • PneumoniaHP:0002090
  • Recurrent bacterial infectionsHP:0002718
  • Recurrent viral infectionsHP:0004429
  • Short attention spanHP:0000736
  • SinusitisHP:0000246
  • Skin rashHP:0000988
  • Vertebral compression fractureHP:0002953

Very rare (<4-1%)(16)

  • Abnormal finger morphologyHP:0001167
  • Abnormality of the outer earHP:0000356
  • Decreased response to growth hormone stimulation testHP:0000824
  • Delayed eruption of teethHP:0000684
  • Diabetes mellitusHP:0000819
  • Eczematoid dermatitisHP:0000964
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • Hearing impairmentHP:0000365
  • HepatomegalyHP:0002240
  • HypopituitarismHP:0040075
  • IchthyosisHP:0008064
  • ImmunodeficiencyHP:0002721
  • Oral ulcerHP:0000155
  • OsteomyelitisHP:0002754
  • Proximal femoral epiphysiolysisHP:0006461
  • SepsisHP:0100806