KEGG   DISEASE: PTEN hamartoma tumor syndrome
Entry
H00539                      Disease                                
Name
PTEN hamartoma tumor syndrome
  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
Human diseases in ICD-11 classification [BR:br08403]
 02 Neoplasms
  Benign neoplasms, except of lymphoid, haematopoietic, central nervous system or related tissues
   Benign non-mesenchymal neoplasms
    2E92  Benign neoplasm of digestive organs
     H00539  PTEN hamartoma tumor syndrome
Related
pathway
hsa04150  mTOR signaling pathway
hsa04151  PI3K-Akt signaling pathway
Gene
PTEN [HSA:5728] [KO:K01110]
Comment
See also H02119.
Other DBs
ICD-11: 2E92.40
ICD-10: Q85.8 Q87.8 Q87.3
MeSH: C566636 C567337
OMIM: 158350 153480
Reference
PMID:19668082
  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
  Authors
Eng C
  Title
PTEN: one gene, many syndromes.
  Journal
Hum Mutat 22:183-98 (2003)
DOI:10.1002/humu.10257
Reference
PMID:16379592
  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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Disease (2)   
   OMIM (2)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (3)   
   PubMed (3)   
All databases (7)   

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