TP73L gene mutation; p63 gene mutation

Clinical significance

• defects in TP63 are the cause of
  • acro-dermato-ungual-acrimal-tooth syndrome (ADULT syndrome)
  • ankyloblepharon-ectodermal defects-cleft lip/palate
  • ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3)
  • split-hand/foot malformation 4
  • limb-mammary syndrome
  • ectodermal dysplasia Rapp-Hodgkin type
  • non-syndromic orofacial cleft type 8
  • cervical cancer, colon cancer, head & neck cancer, lung cancer & ovarian cancer

More general terms

• gene mutation testing; gene mutation analysis

Additional terms

• p63 protein; p53 homolog p63; tumor protein p73-like; p73L; TP63; p51; p40; keratinocyte transcription factor KET; chronic ulcerative stomatitis protein (CUSP, TP73L, KET, p63, P73H)