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Neurofibromatosis type 1

ORPHA:636 · Disease · Disorder

HPO 表現型（共 77 項）

Very frequent (99-80%)(15)

  • Abnormality of the nervous systemHP:0000707
  • AstrocytomaHP:0009592
  • Delayed pubertyHP:0000823
  • Generalized hyperpigmentationHP:0007440
  • Lisch nodulesHP:0009737
  • MaculeHP:0012733
  • Melanocytic nevusHP:0000995
  • MeningiomaHP:0002858
  • Mild intellectual disabilityHP:0001256
  • Multiple cafe-au-lait spotsHP:0007565
  • Multiple lipomasHP:0001012
  • Neoplasm of the skinHP:0008069
  • Plexiform neurofibromaHP:0009732
  • Specific learning disabilityHP:0001328
  • Subcutaneous noduleHP:0001482

Frequent (79-30%)(20)

  • Abnormal speech patternHP:0002167
  • Abnormality of the eyeHP:0000478
  • Abnormality of visionHP:0000504
  • AtaxiaHP:0001251
  • Attention deficit hyperactivity disorderHP:0007018
  • Axillary frecklingHP:0000997
  • CryptorchidismHP:0000028
  • Genu valgumHP:0002857
  • HeadacheHP:0002315
  • Hearing abnormalityHP:0000364
  • Hearing impairmentHP:0000365
  • Heterochromia iridisHP:0001100
  • Inguinal frecklingHP:0030052
  • Memory impairmentHP:0002354
  • ParesthesiaHP:0003401
  • ProptosisHP:0000520
  • Recurrent fracturesHP:0002757
  • Skeletal dysplasiaHP:0002652
  • Slender long boneHP:0003100
  • Tall statureHP:0000098

Occasional (29-5%)(39)

  • Abnormal electroretinogramHP:0000512
  • Abnormal eyelid morphologyHP:0000492
  • Abnormal hair quantityHP:0011362
  • Abnormal hip bone morphologyHP:0003272
  • Abnormal retinal pigmentationHP:0007703
  • Abnormality of the endocrine systemHP:0000818
  • Abnormality of the respiratory systemHP:0002086
  • Abnormality of the skeletal systemHP:0000924
  • Abnormality of the upper urinary tractHP:0010935
  • Arterial stenosisHP:0100545
  • Autistic behaviorHP:0000729
  • CataractHP:0000518
  • Chorioretinal colobomaHP:0000567
  • Chronic myelogenous leukemiaHP:0005506
  • Corneal opacityHP:0007957
  • Gastrointestinal stroma tumorHP:0100723
  • Genu varumHP:0002970
  • GlaucomaHP:0000501
  • HydrocephalusHP:0000238
  • HypertensionHP:0000822
  • Hypopigmented skin patchesHP:0001053
  • Joint stiffnessHP:0001387
  • KyphosisHP:0002808
  • MacrocephalyHP:0000256
  • MyopiaHP:0000545
  • NeoplasmHP:0002664
  • Neoplasm of the breastHP:0100013
  • Neoplasm of the gastrointestinal tractHP:0007378
  • Optic nerve gliomaHP:0009734
  • OsteopeniaHP:0000938
  • PheochromocytomaHP:0002666
  • Precocious pubertyHP:0000826
  • SarcomaHP:0100242
  • ScoliosisHP:0002650
  • SeizureHP:0001250
  • Short statureHP:0004322
  • Spinal neurofibromaHP:0009735
  • Urinary tract neoplasmHP:0010786
  • Visual impairmentHP:0000505

Very rare (<4-1%)(3)

  • Carcinoid tumorHP:0100570
  • LeukemiaHP:0001909
  • RhabdomyosarcomaHP:0002859