KEGG   DISEASE: H00539Help
Entry
H00539                      Disease                                

Name
PTEN hamartoma tumor syndrome (PHTS), including:
Cowden syndrome;
Bannayan-Riley-Ruvalcaba syndrome;
Proteus syndrome;
Proteus-like syndrome
Description
PTEN hamartoma tumor syndrome (PHTS) is a spectrum of disorders associated with the formation of hamartomas caused by mutations of the tumor suppressor PTEN. The hamartomas tend to be both benign and malignant tumors, especially in Cowden syndrome.
Category
Developmental disorder; Cancer
Brite
Human diseases [BR:br08402]
 Other congenital disorders
  Congenital disorders of development
   H00539  PTEN hamartoma tumor syndrome
Human diseases in ICD-10 classification [BR:br08403]
 17. Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99)
  Q80-Q89  Other congenital malformations
   Q85  Phakomatoses, not elsewhere classified
    H00539  Cowden syndrome
   Q87  Other specified congenital malformation syndromes affecting multiple systems
    H00539  PTEN hamartoma tumor syndrome (PHTS)
 21. Factors influencing health status and contact with health services (Z00-Z99)
  Z80-Z99  Persons with potential health hazards related to family and personal history and certain conditions influencing health status
   Z80  Family history of malignant neoplasm
    H00539  PTEN hamartoma tumor syndrome (PHTS)
BRITE hierarchy
Pathway
MAPK signaling pathway
ErbB signaling pathway
Chemokine signaling pathway
mTOR signaling pathway
Apoptosis
VEGF signaling pathway
Focal adhesion
Jak-STAT signaling pathway
Gene
PTEN [HSA:207] [KO:K04456]
Other DBs
Reference
PMID:19668082 (description, gene)
  Authors
Hobert JA, Eng C
  Title
PTEN hamartoma tumor syndrome: an overview.
  Journal
Genet Med 11:687-94 (2009)
Reference
PMID:12938083 (description, gene)
  Authors
Eng C
  Title
PTEN: one gene, many syndromes.
  Journal
Hum Mutat 22:183-98 (2003)
Reference
PMID:16379592 (description, gene)
  Authors
Wang QK
  Title
Update on the molecular genetics of vascular anomalies.
  Journal
Lymphat Res Biol 3:226-33 (2005)

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