← 返回搜尋

Leukocyte adhesion deficiency

ORPHA:2968 · Disease · Disorder

HPO 表現型（共 52 項）

Very frequent (99-80%)(3)

  • Abnormal neutrophil physiologyHP:0011990
  • Impaired neutrophil chemotaxisHP:0040238
  • Recurrent bacterial infectionsHP:0002718

Frequent (79-30%)(16)

  • Bone marrow hypocellularityHP:0005528
  • Delayed umbilical cord separationHP:0032434
  • GingivitisHP:0000230
  • Increased total leukocyte countHP:0001974
  • Lymphocytic interstitial pneumoniaHP:0006527
  • Neonatal omphalitisHP:0032435
  • Otitis mediaHP:0000388
  • PeritonitisHP:0002586
  • PneumoniaHP:0002090
  • Recurrent aphthous stomatitisHP:0011107
  • Recurrent fungal infectionsHP:0002841
  • Recurrent oral thrushHP:0009098
  • Recurrent skin infectionsHP:0001581
  • Recurrent staphylococcal infectionsHP:0007499
  • Recurrent urinary tract infectionsHP:0000010
  • Respiratory tract infectionHP:0011947

Occasional (29-5%)(29)

  • Abnormal bleedingHP:0001892
  • Abnormality of the dentitionHP:0000164
  • AutismHP:0000717
  • BCGosisHP:0020087
  • BronchiectasisHP:0002110
  • Cerebral atrophyHP:0002059
  • Coarse facial featuresHP:0000280
  • ConjunctivitisHP:0000509
  • GlomerulonephritisHP:0000099
  • Growth delayHP:0001510
  • Hemolytic-uremic syndromeHP:0005575
  • Hyperinsulinemic hypoglycemiaHP:0000825
  • Impaired platelet aggregationHP:0003540
  • Intellectual disabilityHP:0001249
  • MeningitisHP:0001287
  • Nail dystrophyHP:0008404
  • Nasolacrimal sac granulomaHP:0500035
  • OsteomyelitisHP:0002754
  • Perianal abscessHP:0009789
  • PolycythemiaHP:0001901
  • Pyoderma gangrenosumHP:0025452
  • Recurrent bacterial vaginosisHP:0030683
  • Recurrent tonsillitisHP:0011110
  • SeizureHP:0001250
  • SepsisHP:0100806
  • Severe periodontitisHP:0000166
  • Short statureHP:0004322
  • SinusitisHP:0000246
  • ThrombocytosisHP:0001894

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

  • Acute myeloid leukemiaHP:0004808
  • Coronal craniosynostosisHP:0004440
  • Intrauterine growth retardationHP:0001511
  • MicrocephalyHP:0000252