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Cowden syndrome

ORPHA:201 · Clinical subtype · Subtype of disorder

HPO 表現型（共 57 項）

Very frequent (99-80%)(10)

  • Breast carcinomaHP:0003002
  • Colorectal polyposisHP:0200063
  • Conjunctival hamartomaHP:0100780
  • Generalized hyperkeratosisHP:0005595
  • GoiterHP:0000853
  • MaculeHP:0012733
  • Neoplasm of the skinHP:0008069
  • Palmoplantar keratodermaHP:0000982
  • PapillomaHP:0012740
  • PapuleHP:0200034

Frequent (79-30%)(19)

  • Abnormal penis morphologyHP:0000036
  • Abnormality of the thyroid glandHP:0000820
  • Adenoma sebaceumHP:0009720
  • AtaxiaHP:0001251
  • Cavernous hemangiomaHP:0001048
  • Cognitive impairmentHP:0100543
  • FibromaHP:0010614
  • Furrowed tongueHP:0000221
  • Global developmental delayHP:0001263
  • Hamartomatous polyposisHP:0004390
  • Intellectual disabilityHP:0001249
  • LipomaHP:0012032
  • MacrocephalyHP:0000256
  • MacroglossiaHP:0000158
  • Melanocytic nevusHP:0000995
  • MeningiomaHP:0002858
  • Mucosal telangiectasiaeHP:0100579
  • NeoplasmHP:0002664
  • Subcutaneous noduleHP:0001482

Occasional (29-5%)(28)

  • Abnormal cerebellum morphologyHP:0001317
  • Abnormality of the kidneyHP:0000077
  • Abnormality of the uterusHP:0000130
  • AutismHP:0000717
  • Bone cystHP:0012062
  • BrachydactylyHP:0001156
  • CataractHP:0000518
  • Cellular immunodeficiencyHP:0005374
  • Endometrial carcinomaHP:0012114
  • Enlarged polycystic ovariesHP:0008675
  • Failure to thriveHP:0001508
  • Follicular thyroid carcinomaHP:0006731
  • GynecomastiaHP:0000771
  • Hearing impairmentHP:0000365
  • High palateHP:0000218
  • Hypopigmented skin patchesHP:0001053
  • Increased intracranial pressureHP:0002516
  • KyphosisHP:0002808
  • MelanomaHP:0002861
  • Multiple cafe-au-lait spotsHP:0007565
  • MyopiaHP:0000545
  • Neoplasm of the central nervous systemHP:0100006
  • Neoplasm of the thyroid glandHP:0100031
  • Pectus excavatumHP:0000767
  • Renal cell carcinomaHP:0005584
  • ScoliosisHP:0002650
  • SeizureHP:0001250
  • Short statureHP:0004322