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Results 1 - 8 of 8 for Familial hypercholesterolemia
  1. Familial hypercholesterolemia 
    Familial hypercholesterolemia is an inherited condition characterized by very high levels of cholesterol in the blood. Cholesterol is ... that aid in fat digestion. In people with familial hypercholesterolemia, the body is unable to get rid of ...
    https://medlineplus.gov/.../condition/familial-hypercholesterolemia - Genetics
  2. LDLR gene 
    ... gene cause a form of high cholesterol called familial hypercholesterolemia. More than 2,000 mutations have been identified ... of having a heart attack.Most people with familial hypercholesterolemia inherit one altered copy of the LDLR gene ...
    https://medlineplus.gov/genetics/gene/ldlr - Genetics
  3. PCSK9 gene 
    ... more than 50 PCSK9 gene mutations that cause familial hypercholesterolemia. Most of these mutations change single protein building ... PCSK9 protein. Researchers describe the mutations responsible for familial hypercholesterolemia as "gain-of-function" because they appear to ...
    https://medlineplus.gov/genetics/gene/pcsk9 - Genetics
  4. APOB gene 
    ... in the APOB gene are known to cause familial hypercholesterolemia. This condition is characterized by very high levels ... of having a heart attack.Most people with familial hypercholesterolemia inherit one altered copy of the APOB gene ...
    https://medlineplus.gov/genetics/gene/apob - Genetics
  5. LDLRAP1 gene 
    ... have been shown to cause a form of familial hypercholesterolemia called autosomal recessive hypercholesterolemia. These mutations lead to ...
    https://medlineplus.gov/genetics/gene/ldlrap1 - Genetics
  6. Where can I read more about the diseases and traits covered in my direct-to-consumer genetic testing report?: ... 
    ... macular degeneration Alpha-1 antitrypsin deficiency Celiac disease Familial hypercholesterolemia Glucose-6-phosphate dehydrogenase deficiency , also called G6PD ...
    https://medlineplus.gov/.../dtcgenetictesting/dtcghrpages - Genetics
  7. MTTP gene 
    ... transfer protein and lipoprotein assembly to treat homozygous familial hypercholesterolemia. Crit Rev Clin Lab Sci. 2017 Jan;54( ...
    https://medlineplus.gov/genetics/gene/mttp - Genetics
  8. Congenital nephrotic syndrome 
    ... the urine (proteinuria), increased cholesterol in the blood (hypercholesterolemia), an ... Genetic Testing Registry: Finnish congenital nephrotic ...
    https://medlineplus.gov/.../condition/congenital-nephrotic-syndrome - Genetics