KEGG   DISEASE: PTEN hamartoma tumor syndrome (PHTS)Help
Entry
H00539                      Disease                                

Name
PTEN hamartoma tumor syndrome (PHTS)
  Subgroup
Cowden syndrome [DS:H01222]
Bannayan-Riley-Ruvalcaba 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
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H00539  PTEN hamartoma tumor syndrome (PHTS)
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
Gene
PTEN [HSA:5728] [KO:K01110]
Comment
See also H02119.
Other DBs
ICD-10: Q85.8 Q87.8 Q87.3
MeSH: C566636 C567337
OMIM: 158350 153480
Reference
PMID:19668082 (description, gene)
  Authors
Hobert JA, Eng C
  Title
PTEN hamartoma tumor syndrome: an overview.
  Journal
Genet Med 11:687-94 (2009)
DOI:10.1097/GIM.0b013e3181ac9aea
Reference
PMID:12938083 (description, gene)
  Authors
Eng C
  Title
PTEN: one gene, many syndromes.
  Journal
Hum Mutat 22:183-98 (2003)
DOI:10.1002/humu.10257
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)
DOI:10.1089/lrb.2005.3.226

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