Deposits in the heart impair pumping while skin involvement brings rash and itching; a technetium-99m pyrophosphate scan plus TTR testing can establish the diagnosis.
Reported in Iraq and Jordan, this recessive form of congenital analbuminemia can cause swelling, growth delay and infections; carriers show no symptoms.
Discover the importance of genetic testing for Anonychia, a rare genetic disorder affecting nails. Learn about diagnosis, carrier status, prenatal testing, and treatment options.
Low levels of this HDL protein have been associated with familial combined hyperlipidemia, insulin resistance and type 2 diabetes, along with raised triglycerides.
Twisted, elongated arteries, joint hypermobility and abnormal facial features mark ATS, and loss-of-function EMILIN1 variants confirm this recessive diagnosis.
Serum aspartate aminotransferase levels are shaped by the AST1 locus, a quantitative trait locus discussed here alongside genetic findings in IBD, gout and NAFLD.
Germline and somatic changes both matter in atrial fibrillation: TRβ L266S, an NPPA mutation and Nup155 R391H have each been linked to the arrhythmia in studies.
Heart rate, blood pressure, digestion and temperature control can all falter. The page reviews studies on heredity, heart rate variability and ROHHAD syndrome.