| H00539 | |
| H number | H00539 |
| Name | PTEN hamartoma tumor 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 | Neoplasm |
| Network | - |
| Gene | PTEN [HSA:5728] [KO:K01110] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| 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 PMID:12938083 AUTHORS Eng C TITLE PTEN: one gene, many syndromes. JOURNAL Hum Mutat 22:183-98 (2003) DOI:10.1002/humu.10257 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 |