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Tuberous sclerosis complex

ORPHA:805 · Disease · Disorder

HPO 表現型（共 62 項）

Very frequent (99-80%)(8)

  • Abnormality of the kidneyHP:0000077
  • Atypical behaviorHP:0000708
  • Cortical dysplasiaHP:0002539
  • Cortical tubersHP:0009717
  • Generalized abnormality of skinHP:0011354
  • Hypomelanotic maculeHP:0009719
  • SeizureHP:0001250
  • Subependymal nodulesHP:0009716

Frequent (79-30%)(27)

  • Abnormal social behaviorHP:0012433
  • Aggressive behaviorHP:0000718
  • AngiofibromasHP:0010615
  • AutismHP:0000717
  • Autistic behaviorHP:0000729
  • Cardiac rhabdomyomaHP:0009729
  • Chorioretinal hypopigmentationHP:0040030
  • Chronic kidney diseaseHP:0012622
  • Confetti-like hypopigmented maculesHP:0007449
  • DepressionHP:0000716
  • Epileptic spasmHP:0011097
  • Focal-onset seizureHP:0007359
  • HyperactivityHP:0000752
  • ImpulsivityHP:0100710
  • Infantile spasmsHP:0012469
  • Intellectual disabilityHP:0001249
  • Neurodevelopmental delayHP:0012758
  • Pulmonary lymphangiomyomatosisHP:0012798
  • Renal cystHP:0000107
  • Repetitive compulsive behaviorHP:0008762
  • Retinal hamartomaHP:0009594
  • Self-injurious behaviorHP:0100716
  • Shagreen patchHP:0009721
  • Skin plaqueHP:0200035
  • Sleep disturbanceHP:0002360
  • Specific learning disabilityHP:0001328
  • Status epilepticusHP:0002133

Occasional (29-5%)(14)

  • AnxietyHP:0000739
  • Attention deficit hyperactivity disorderHP:0007018
  • Epidermoid cystHP:0200040
  • HemoptysisHP:0002105
  • Hepatic cystsHP:0001407
  • HypertensionHP:0000822
  • Noncommunicating hydrocephalusHP:0010953
  • Poor speechHP:0002465
  • Renal angiomyolipomaHP:0006772
  • Renal insufficiencyHP:0000083
  • Respiratory distressHP:0002098
  • Respiratory tract infectionHP:0011947
  • Subependymal giant-cell astrocytomaHP:0009718
  • Ungual fibromaHP:0100804

Very rare (<4-1%)(13)

  • Aortic aneurysmHP:0004942
  • Carcinoid tumorHP:0100570
  • Internal hemorrhageHP:0011029
  • Pancreatic endocrine tumorHP:0030405
  • Parathyroid adenomaHP:0002897
  • Parathyroid hyperplasiaHP:0008208
  • PheochromocytomaHP:0002666
  • Pituitary adenomaHP:0002893
  • Polycystic kidney dysplasiaHP:0000113
  • Renal cell carcinomaHP:0005584
  • Respiratory failureHP:0002878
  • Retinal astrocytic hamartomaHP:0012778
  • Stage 5 chronic kidney diseaseHP:0003774