MedGen

An extremely rare, complex type of hereditary spastic paraplegia, with onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. Caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function. [from SNOMEDCT_US]

The estrogen receptor level measured in a primary tumor or in metastases. There are essentially two distinct forms of breast cancer, one that tends to have an early onset and is characterized by an ER- status, and one that tends to have a late onset and is characterized by an ER+ status. However, these two variants tend to overlap with respect to age, so it is possible for a young woman to have a ""late-onset"" form of breast cancer and for an older woman to have an ""early-onset"" variant of the disease. [from NCI]

A biologic subset of breast carcinoma defined by high expression of genes characteristic of luminal epithelial cells, including estrogen receptor (ER), estrogen regulated protein LIV-1, and the transcription factors hepatocyte nuclear factor 3, HNF3A, XBP1, and GATA 3. This subtype of breast cancer is associated with a good prognosis. [from NCI]