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Congenital intrinsic factor deficiency

ORPHA:332 · Disease · Disorder

HPO 表現型（共 17 項）

Obligate (100%)(1)

  • Absence of intrinsic factorHP:0005219

Very frequent (99-80%)(2)

  • Decreased circulating vitamin B12 concentrationHP:0100502
  • Megaloblastic anemiaHP:0001889

Frequent (79-30%)(6)

  • AstheniaHP:0025406
  • DementiaHP:0000726
  • HyperhomocystinemiaHP:0002160
  • Methylmalonic acidemiaHP:0002912
  • Recurrent infectionsHP:0002719
  • Specific learning disabilityHP:0001328

Occasional (29-5%)(7)

  • Atrophy of the spinal cordHP:0006827
  • Growth delayHP:0001510
  • HeadacheHP:0002315
  • Megaloblastic erythroid hyperplasiaHP:0200143
  • Methylmalonic aciduriaHP:0012120
  • ParesthesiaHP:0003401
  • Peripheral neuropathyHP:0009830

Excluded (0%)(1)

  • Anti-intrinsic factor antibody positivityHP:6000344