← 返回搜尋

Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form

ORPHA:89842 · Disease · Disorder

HPO 表現型（共 46 項）

Very frequent (99-80%)(7)

  • Abnormal blistering of the skinHP:0008066
  • Abnormal circulating selenium concentrationHP:0031903
  • AnemiaHP:0001903
  • Atypical scarring of skinHP:0000987
  • Decreased body weightHP:0004325
  • Fragile skinHP:0001030
  • Growth delayHP:0001510

Frequent (79-30%)(21)

  • Abnormal esophagus morphologyHP:0002031
  • Carious teethHP:0000670
  • Chronic cutaneous woundHP:0032676
  • ConstipationHP:0002019
  • Decreased circulating carnitine concentrationHP:0003234
  • Decreased circulating iron concentrationHP:0040303
  • Decreased circulating vitamin D concentrationHP:0100512
  • Decreased serum zincHP:0031831
  • DysphagiaHP:0002015
  • Esophageal stenosisHP:0010450
  • Esophageal strictureHP:0002043
  • Failure to thriveHP:0001508
  • Feeding difficultiesHP:0011968
  • Gastroesophageal refluxHP:0002020
  • HypoalbuminemiaHP:0003073
  • Irregular hyperpigmentationHP:0007400
  • MalnutritionHP:0004395
  • MiliaHP:0001056
  • Recurrent skin infectionsHP:0001581
  • Skeletal muscle atrophyHP:0003202
  • Skin erosionHP:0200041

Occasional (29-5%)(17)

  • Absent toenailHP:0001802
  • Anal fissureHP:0012390
  • AnkyloglossiaHP:0010296
  • AnonychiaHP:0001798
  • AnxietyHP:0000739
  • Aplasia cutis congenitaHP:0001057
  • Corneal erosionHP:0200020
  • Delayed pubertyHP:0000823
  • DepressionHP:0000716
  • Dilated cardiomyopathyHP:0001644
  • Flexion contractureHP:0001371
  • Gastrostomy tube feeding in infancyHP:0011471
  • Mitten deformityHP:0004057
  • Nail dysplasiaHP:0002164
  • Narrow mouthHP:0000160
  • NevusHP:0003764
  • Visual lossHP:0000572

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

  • Squamous cell carcinomaHP:0002860