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Prolidase deficiency

ORPHA:742 · Disease · Disorder

HPO 表現型（共 39 項）

Very frequent (99-80%)(19)

  • Abnormal facial shapeHP:0001999
  • Abnormal hip bone morphologyHP:0003272
  • Abnormality of the immune systemHP:0002715
  • Abnormality of the middle earHP:0000370
  • Aplasia/Hypoplasia of the skinHP:0008065
  • Carious teethHP:0000670
  • Crusting erythematous dermatitisHP:0007473
  • Cutaneous photosensitivityHP:0000992
  • Depressed nasal bridgeHP:0005280
  • Dry skinHP:0000958
  • ErythemaHP:0010783
  • Hearing impairmentHP:0000365
  • HyperkeratosisHP:0000962
  • Palmoplantar keratodermaHP:0000982
  • PapuleHP:0200034
  • PruritusHP:0000989
  • Recurrent respiratory infectionsHP:0002205
  • Skin ulcerHP:0200042
  • Thin skinHP:0000963

Frequent (79-30%)(13)

  • Abnormal fingernail morphologyHP:0001231
  • Abnormal retinal pigmentationHP:0007703
  • ArachnodactylyHP:0001166
  • Bilateral single transverse palmar creasesHP:0007598
  • Depressed nasal ridgeHP:0000457
  • Generalized hirsutismHP:0002230
  • Genu valgumHP:0002857
  • HirsutismHP:0001007
  • HypertelorismHP:0000316
  • Low anterior hairlineHP:0000294
  • MicrognathiaHP:0000347
  • Visual impairmentHP:0000505
  • White forelockHP:0002211

Occasional (29-5%)(7)

  • HepatomegalyHP:0002240
  • Hypoplasia of the zygomatic boneHP:0010669
  • Intellectual disabilityHP:0001249
  • ProptosisHP:0000520
  • Recurrent cystitisHP:0012786
  • Reduced bone mineral densityHP:0004349
  • SplenomegalyHP:0001744