← 返回搜尋

Syndromic multisystem autoimmune disease due to Itch deficiency

ORPHA:228426 · Disease · Disorder

HPO 表現型（共 38 項）

Very frequent (99-80%)(6)

  • Abnormal facial shapeHP:0001999
  • Chronic lung diseaseHP:0006528
  • Failure to thrive in infancyHP:0001531
  • Global developmental delayHP:0001263
  • HepatosplenomegalyHP:0001433
  • Relative macrocephalyHP:0004482

Frequent (79-30%)(10)

  • Anti-thyroid peroxidase antibody positivityHP:0025379
  • AutoimmunityHP:0002960
  • Floppy infantHP:0008947
  • Gastrostomy tube feeding in infancyHP:0011471
  • HepatitisHP:0012115
  • HypersplenismHP:0001971
  • HypothyroidismHP:0000821
  • ProptosisHP:0000520
  • Recurrent infectionsHP:0002719
  • ThyroiditisHP:0100646

Occasional (29-5%)(22)

  • Abnormal intestine morphologyHP:0002242
  • Acute hepatic failureHP:0006554
  • Anti-glutamic acid decarboxylase antibody positivityHP:0025329
  • Anti-smooth muscle antibody positivityHP:0003262
  • Antineutrophil antibody positivityHP:0003453
  • Autoimmune neutropeniaHP:0001904
  • CamptodactylyHP:0012385
  • Choanal atresiaHP:0000453
  • CholangitisHP:0030151
  • CirrhosisHP:0001394
  • ClinodactylyHP:0030084
  • DolichocephalyHP:0000268
  • Frontal bossingHP:0002007
  • Insulin receptor antibody positivityHP:0031104
  • Midface retrusionHP:0011800
  • PancytopeniaHP:0001876
  • Portal hypertensionHP:0001409
  • Posteriorly rotated earsHP:0000358
  • Prominent occiputHP:0000269
  • PtosisHP:0000508
  • Short chinHP:0000331
  • Type I diabetes mellitusHP:0100651