KEGG DISEASE: PTEN hamartoma tumor syndrome (PHTS)

DISEASE: PTEN hamartoma tumor syndrome (PHTS)

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)

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

» Japanese version

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Ontology (2)   
   KEGG BRITE (2)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (3)   
   PubMed (3)   
All databases (7)   

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