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Juvenile polyposis syndrome

ORPHA:2929 · Disease · Disorder

HPO 表現型（共 52 項）

Obligate (100%)(3)

  • Juvenile colonic polyposisHP:0012198
  • Juvenile gastrointestinal polyposisHP:0004784
  • Rectal polyposisHP:0100896

Very frequent (99-80%)(1)

  • Intestinal polypHP:0005266

Frequent (79-30%)(4)

  • Abdominal painHP:0002027
  • AnemiaHP:0001903
  • Hamartomatous polyposisHP:0004390
  • Small intestinal polyposisHP:0030256

Occasional (29-5%)(21)

  • Abnormal facial shapeHP:0001999
  • Chronic fatigueHP:0012432
  • Clubbing of fingersHP:0100759
  • Colon cancerHP:0003003
  • DiarrheaHP:0002014
  • EdemaHP:0000969
  • Failure to thriveHP:0001508
  • Gastrointestinal hemorrhageHP:0002239
  • Growth delayHP:0001510
  • Hamartomatous stomach polypsHP:0004795
  • HematocheziaHP:0002573
  • IntussusceptionHP:0002576
  • Large foreheadHP:0002003
  • MacrocephalyHP:0000256
  • Mild intellectual disabilityHP:0001256
  • Neoplasm of the gastrointestinal tractHP:0007378
  • Neoplasm of the small intestineHP:0100833
  • RectoceleHP:0100822
  • Short chinHP:0000331
  • Spontaneous, recurrent epistaxisHP:0004406
  • Stomach cancerHP:0012126

Very rare (<4-1%)(23)

  • Abnormal onset of bleedingHP:0040231
  • AnasarcaHP:0012050
  • Arteriovenous malformationHP:0100026
  • Brain abscessHP:0030049
  • Cerebral arteriovenous malformationHP:0002408
  • Depressed nasal bridgeHP:0005280
  • Downslanted palpebral fissuresHP:0000494
  • EpistaxisHP:0000421
  • Extrahepatic portal hypertensionHP:0004941
  • HemangioblastomaHP:0010797
  • Hepatic arteriovenous malformationHP:0006574
  • HypertelorismHP:0000316
  • HypoproteinemiaHP:0003075
  • Low-set earsHP:0000369
  • Mucosal telangiectasiaeHP:0100579
  • Multiple lipomasHP:0001012
  • Narrow mouthHP:0000160
  • Neoplasm of the pancreasHP:0002894
  • Protein-losing enteropathyHP:0002243
  • Pulmonary arterial hypertensionHP:0002092
  • Pulmonary arteriovenous malformationHP:0006548
  • Transient ischemic attackHP:0002326
  • Visceral angiomatosisHP:0100761