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Pearson syndrome

ORPHA:699 · Disease · Disorder

HPO 表現型（共 70 項）

Very frequent (99-80%)(8)

  • Abnormal bone marrow cell morphologyHP:0005561
  • Bone marrow hypocellularityHP:0005528
  • Decreased total neutrophil countHP:0001875
  • Elevated lactate:pyruvate ratioHP:0032653
  • HyperalaninemiaHP:0003348
  • LacticaciduriaHP:0003648
  • ReticulocytosisHP:0001923
  • Severe infectionHP:0032169

Frequent (79-30%)(14)

  • Abnormal heart morphologyHP:0001627
  • Abnormality of the nervous systemHP:0000707
  • AnemiaHP:0001903
  • CardiomyopathyHP:0001638
  • Corneal stromal edemaHP:0012040
  • Exocrine pancreatic insufficiencyHP:0001738
  • HepatomegalyHP:0002240
  • Increased circulating lactate concentrationHP:0002151
  • Increased CSF lactateHP:0002490
  • Postnatal growth retardationHP:0008897
  • Renal insufficiencyHP:0000083
  • Small for gestational ageHP:0001518
  • SplenomegalyHP:0001744
  • ThrombocytopeniaHP:0001873

Occasional (29-5%)(37)

  • Abnormality of the liverHP:0001392
  • AtaxiaHP:0001251
  • Axial hypotoniaHP:0008936
  • Cardiac conduction abnormalityHP:0031546
  • CataractHP:0000518
  • Chronic diarrheaHP:0002028
  • Decreased response to growth hormone stimulation testHP:0000824
  • Decreased serum bicarbonate concentrationHP:0032066
  • DehydrationHP:0001944
  • Developmental regressionHP:0002376
  • Diabetes mellitusHP:0000819
  • DysphagiaHP:0002015
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • Global developmental delayHP:0001263
  • GlycosuriaHP:0003076
  • Growth delayHP:0001510
  • Hearing impairmentHP:0000365
  • Hepatic failureHP:0001399
  • Hepatic steatosisHP:0001397
  • Hydrops fetalisHP:0001789
  • HypocalcemiaHP:0002901
  • HypokalemiaHP:0002900
  • HypomagnesemiaHP:0002917
  • HypophosphatemiaHP:0002148
  • HypothyroidismHP:0000821
  • HypotoniaHP:0001252
  • Lactic acidosisHP:0003128
  • Malabsorption of Vitamin B12HP:0200118
  • OphthalmoplegiaHP:0000602
  • Pancreatic fibrosisHP:0100732
  • PancytopeniaHP:0001876
  • Pigmentary retinopathyHP:0000580
  • Poor suckHP:0002033
  • ProteinuriaHP:0000093
  • PtosisHP:0000508
  • SeizureHP:0001250
  • SteatorrheaHP:0002570

Very rare (<4-1%)(11)

  • Adrenal insufficiencyHP:0000846
  • Cafe-au-lait spotHP:0000957
  • Cutaneous photosensitivityHP:0000992
  • Hyperpigmentation of the skinHP:0000953
  • HypoparathyroidismHP:0000829
  • Hypoplastic spleenHP:0006270
  • Macronodular cirrhosisHP:0006577
  • Median cleft palateHP:0009099
  • MicrocephalyHP:0000252
  • NystagmusHP:0000639
  • Renal cystHP:0000107