Misfolded transthyretin forms amyloid deposits in the heart, nerves and gut when the TTR gene is mutated; the leptomeningeal form affects the brain and spinal cord.
Fewer red blood cells or low hemoglobin can stem from autoimmune destruction or inherited bone marrow failure, as in AIHA and Fanconi anemia.
Absence of one or both eyes at birth has been linked to PRR12 and ALDH1A3 variants, with prenatal ultrasound and carrier testing available to families.
VX15/2503 binds SEMA4D, also called CD100, a protein involved in immune regulation, angiogenesis and axonal growth, and is studied in cancer and multiple sclerosis.
A tear in an artery's inner lining lets blood force the layers apart. CT, MRI and echocardiography confirm it, while genetic findings guide family screening.
Born with a collodion membrane, children with ARCI5 go on to develop scaling and hyperkeratosis tied to the CYP4F22, CERS3, PNPLA1 and NIPAL4 genes.
Bacteria breaking down apocrine sweat create the smell. The page covers diagnosis, the link to trimethylaminuria, and treatments from hygiene to surgery.
Acid and bile reflux can trigger genetic changes in Barrett's esophagus cells, and reduced EGF expression or aberrant AID activity is linked to cancer development.