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Lysinuric protein intolerance

ORPHA:470 · Disease · Disorder

HPO 表現型（共 77 項）

Very frequent (99-80%)(1)

  • Failure to thriveHP:0001508

Frequent (79-30%)(48)

  • Abnormal bleedingHP:0001892
  • Abnormal circulating serine concentrationHP:0012278
  • Abnormal pulmonary interstitial morphologyHP:0006530
  • Abnormal renal tubule morphologyHP:0000091
  • AnemiaHP:0001903
  • ArgininuriaHP:0003268
  • Bone marrow hypercellularityHP:0031020
  • Chronic kidney diseaseHP:0012622
  • CirrhosisHP:0001394
  • Cognitive impairmentHP:0100543
  • Decreased circulating HDL-C concentrationHP:0003233
  • Decreased glomerular filtration rateHP:0012213
  • Decreased total leukocyte countHP:0001882
  • Delayed skeletal maturationHP:0002750
  • DiarrheaHP:0002014
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • Elevated circulating LDL-C concentrationHP:0003141
  • Elevated plasma citrullineHP:0011966
  • Feeding difficultiesHP:0011968
  • Floppy infantHP:0008947
  • GlomerulonephritisHP:0000099
  • Growth delayHP:0001510
  • HematuriaHP:0000790
  • HemophagocytosisHP:0012156
  • Hepatic failureHP:0001399
  • HepatomegalyHP:0002240
  • HepatosplenomegalyHP:0001433
  • HyperalaninemiaHP:0003348
  • HyperammonemiaHP:0001987
  • HypercholesterolemiaHP:0003124
  • HyperglutaminemiaHP:0003217
  • HyperglycinemiaHP:0002154
  • HyperlysinuriaHP:0003297
  • HyperprolinemiaHP:0008358
  • HypertriglyceridemiaHP:0002155
  • Increased circulating lactate dehydrogenase concentrationHP:0025435
  • Intellectual disabilityHP:0001249
  • Intraalveolar phospholipid accumulationHP:0006517
  • NephrocalcinosisHP:0000121
  • Oral aversionHP:0012523
  • OsteopeniaHP:0000938
  • OsteoporosisHP:0000939
  • ProteinuriaHP:0000093
  • Renal tubular dysfunctionHP:0000124
  • Respiratory insufficiencyHP:0002093
  • SteatorrheaHP:0002570
  • ThrombocytopeniaHP:0001873
  • VomitingHP:0002013

Occasional (29-5%)(21)

  • Abnormal circulating immunoglobulin concentrationHP:0010701
  • Abnormal heart morphologyHP:0001627
  • Abnormality of humoral immunityHP:0005368
  • Anti-dsDNA antibody positivityHP:0020151
  • ComaHP:0001259
  • Hepatic amyloidosisHP:0012280
  • HypertensionHP:0000822
  • HypofibrinogenemiaHP:0011900
  • Increased circulating ferritin concentrationHP:0003281
  • Increased serum zincHP:0011424
  • LethargyHP:0001254
  • MegakaryocytopeniaHP:0005548
  • Membranous nephropathyHP:0012578
  • OrnithinuriaHP:0003532
  • OroticaciduriaHP:0003218
  • PancreatitisHP:0001733
  • Pulmonary fibrosisHP:0002206
  • Renal amyloidosisHP:0001917
  • Renal fibrosisHP:0030760
  • Renal tubular acidosisHP:0001947
  • Tubulointerstitial nephritisHP:0001970

Very rare (<4-1%)(7)

  • Antinuclear antibody positivityHP:0003493
  • Decreased circulating immunoglobulin concentrationHP:0004313
  • Decreased response to growth hormone stimulation testHP:0000824
  • Increased circulating immunoglobulin concentrationHP:0010702
  • Pathologic fractureHP:0002756
  • Recurrent bacterial infectionsHP:0002718
  • Reduced circulating complement concentrationHP:0004431