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Systemic sclerosis

ORPHA:90291 · Disease · Disorder

HPO 表現型（共 86 項）

Very frequent (99-80%)(7)

  • Abnormality of the gastrointestinal tractHP:0011024
  • Antinuclear antibody positivityHP:0003493
  • ArthralgiaHP:0002829
  • Cutaneous sclerotic plaqueHP:0031359
  • MyalgiaHP:0003326
  • Raynaud phenomenonHP:0030880
  • Thickened skinHP:0001072

Frequent (79-30%)(44)

  • Abnormal esophagus morphologyHP:0002031
  • Abnormal phalangeal joint morphology of the handHP:0006261
  • Abnormal pulmonary interstitial morphologyHP:0006530
  • Abnormality of the kidneyHP:0000077
  • Acral ulcerationHP:0006121
  • Anti-angiotensin receptor type-1 antibody positivityHP:0034094
  • Anti-angiotensin-converting enzyme 2 antibody positivityHP:0034117
  • Anti-B23 antibody positivityHP:0034089
  • Anti-bicaudal D2 antibody positivityHP:0034082
  • Anti-carbonic anhydrase II antibody positivityHP:0033394
  • Anti-centromere antibody positivityHP:0030873
  • Anti-centromere protein A antibody positivityHP:0034078
  • Anti-centromere protein B antibody positivityHP:0034079
  • Anti-endothelin-1 type A receptor antibody positivityHP:0034095
  • Anti-Ku antibody positivityHP:0034088
  • Anti-nucleolus-organizing region antibody positivityHP:0034083
  • Anti-platelet antigen antibody positivityHP:4000170
  • Anti-platelet derived growth factor receptorHP:0034091
  • Anti-PM-Scl antibody positivityHP:0033560
  • Anti-PM-Scl100 antibody positivityHP:0034085
  • Anti-PM-Scl75 antibody positivityHP:0034086
  • Anti-RNA-polymerase-III-autoantibody positivityHP:0033038
  • Anti-Ro52/TRIM21 antibody positivityHP:0034093
  • Anti-RuvBL1/2 antibody positivityHP:0034090
  • Anti-Th/To antibody positivityHP:0034081
  • Anti-topoisomerase I antibody positivityHP:0030859
  • Anti-U11/U12 RNP antibody positivityHP:0034087
  • Anti-U3 RNP antibody positivityHP:0034080
  • Anti-voltage-gated potassium channel antibody positivityHP:4000171
  • Calcinosis cutisHP:0025520
  • Digital pitting scarHP:0031293
  • Digital ulcerHP:0031917
  • Elevated circulating creatine kinase activityHP:0003236
  • Finger swellingHP:0025131
  • Irregular hyperpigmentationHP:0007400
  • Joint swellingHP:0001386
  • Muscle weaknessHP:0001324
  • Nail bed telangiectasiaHP:0001232
  • Narrow mouthHP:0000160
  • PainHP:0012531
  • Pulmonary fibrosisHP:0002206
  • SclerodactylyHP:0011838
  • Spotty hypopigmentationHP:0005590
  • TelangiectasiaHP:0001009

Occasional (29-5%)(34)

  • Abnormal large intestine morphologyHP:0002250
  • Abnormal small intestine morphologyHP:0002244
  • Abnormal stomach morphologyHP:0002577
  • Abnormality of facial soft tissueHP:0011799
  • Acute kidney injuryHP:0001919
  • AlbuminuriaHP:0012592
  • AlopeciaHP:0001596
  • ArthritisHP:0001369
  • Barrett esophagusHP:0100580
  • Bowel incontinenceHP:0002607
  • Chronic kidney diseaseHP:0012622
  • Constrictive median neuropathyHP:0012185
  • DysphagiaHP:0002015
  • DyspneaHP:0002094
  • Flexion contractureHP:0001371
  • Gastroesophageal refluxHP:0002020
  • Gastrointestinal telangiectasiaHP:0002604
  • GastroparesisHP:0002578
  • GlomerulonephritisHP:0000099
  • HypohidrosisHP:0000966
  • Interstitial cardiac fibrosisHP:0031329
  • Intestinal bleedingHP:0002584
  • MyocarditisHP:0012819
  • Osteolytic defects of the phalanges of the handHP:0009771
  • OsteomyelitisHP:0002754
  • PericarditisHP:0001701
  • ProteinuriaHP:0000093
  • PruritusHP:0000989
  • Pulmonary arterial hypertensionHP:0002092
  • Recurrent skin infectionsHP:0001581
  • Renal insufficiencyHP:0000083
  • Right ventricular failureHP:0001708
  • SyncopeHP:0001279
  • Vascular dilatationHP:0002617

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

  • GangreneHP:0100758