MedGen

Congenital disorders of glycosylation (CDGs) comprise a group of multisystem diseases with mostly severe psychomotor and mental retardation. Type I CDG comprises those disorders in which there are defects that affect biosynthesis of dolichol-linked oligosaccharides in the cytosol or the endoplasmic reticulum (ER), as well as defects involving the transfer of oligosaccharides onto nascent glycoproteins. Type II CDG comprises all defects of further trimming and elongation of N-linked oligosaccharides in the ER and Golgi (Schwarz et al., 2004). CDG1K is a type I CDG characterized by predominant neurologic involvement. Survival ranges from the second day of life to adulthood. The liver is affected in a minority of patients and shows hepatomegaly, edema, ascites, cholestatic jaundice, portal hypertension, and Budd-Chiari syndrome (summary by Marques-da-Silva et al., 2017). For a general discussion of CDGs, see CDG1A (212065). [from OMIM]

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]

A breast carcinoma which is positive for expression of estrogen receptor (ER), progesterone receptor (PR), and is negative for expression of human epidermal growth factor receptor 2 (HER2). [from MONDO]

A breast carcinoma which is positive for expression of estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2). [from MONDO]

A biologic subset of breast carcinoma defined by high expression of genes characteristic of basal epithelial cells, including KRT5 and KRT17, annexin 8, CX3CL1, and TRIM29, and usually by lack of expression of the estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2). It is the most common subtype of breast cancer associated with BRCA1 mutations, and is associated with a poor prognosis. [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]

A biologic subset of breast carcinoma defined by high expression of HER2, GRB7, and TRAP100, and by lack of expression of estrogen receptor (ER). [from NCI]

A biologic subset of breast carcinoma defined by low to moderate expression of genes characteristic of luminal epithelial cells including estrogen receptor (ER), and high expression of GGH, LAPTM4B, and CCNE1. This subtype of breast cancer is associated with a good prognosis, although not as favorable as the luminal A subtype. [from NCI]

Triple-negative breast cancer finding is a negative test result that occurs when the cells in the tumor of a breast cancer patient lack the receptors for both estrogen and progesterone and the human epidermal growth factor receptor 2. [from NCI]

The absence of staining for estrogen receptor, progesterone receptor, and hormone epidermal growth factor receptor 2 (HER2/neu). [from SNOMEDCT_US]

A subtype of breast cancer that is estrogen-receptor positive [from MONDO]

A subtype of breast cancer that is estrogen-receptor negative [from MONDO]