← 返回搜尋

Chylomicron retention disease

ORPHA:71 · Disease · Disorder

HPO 表現型（共 20 項）

Obligate (100%)(2)

  • DiarrheaHP:0002014
  • HypocholesterolemiaHP:0003146

Very frequent (99-80%)(4)

  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • Fat malabsorptionHP:0002630
  • RetinopathyHP:0000488
  • SteatorrheaHP:0002570

Frequent (79-30%)(6)

  • Abdominal distentionHP:0003270
  • Abnormality of vitamin metabolismHP:0100508
  • Failure to thriveHP:0001508
  • Growth delayHP:0001510
  • Increased hepatocellular lipid dropletsHP:0006565
  • VomitingHP:0002013

Occasional (29-5%)(3)

  • EMG: myopathic abnormalitiesHP:0003458
  • Hepatic steatosisHP:0001397
  • Visual impairmentHP:0000505

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

  • AcanthocytosisHP:0001927
  • AreflexiaHP:0001284
  • Impaired proprioceptionHP:0010831
  • MyopathyHP:0003198

Excluded (0%)(1)

  • HypertriglyceridemiaHP:0002155