Terminology Service for NFDI4Health
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PTEN Deficiency

Go to external page http://purl.obolibrary.org/obo/NCIT_C153467

A condition of decreased or absent presence or activity of phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN, which is associated with multiple hamartoma syndrome (Cowden syndrome) and increased risk for development of several types of malignant cancers, including head and neck, breast, lung and prostate cancer and glioblastoma. [ ]

Term info

Label

PTEN Deficiency

Synonyms
  • MMAC1 Deficiency
  • Mutated in Multiple Advanced Cancers 1 Deficiency
  • PTEN Deficiency
  • PTEN Tyrosine Phosphatase Deficiency
  • PTEN1 Deficiency
  • Phosphatase and Tensin Homolog Deficiency
  • Phosphatidylinositol 3,4,5-Trisphosphate 3-Phosphatase and Dual-Specificity Protein Phosphatase PTEN Deficiency
  • TEP1 Deficiency
Subsets

NCIT_C116977, NCIT_C142800, NCIT_C142799

Display Name

PTEN Deficiency

NCI META CUI

CL554968

Preferred Name

PTEN Deficiency

Related To Genetic Biomarker

http://purl.obolibrary.org/obo/NCIT_C18256

Semantic Type

Laboratory or Test Result

code

C153467

Term relations