Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 8 of 8 for Familial hypercholesterolemia 1
  1. Familial hypercholesterolemia 
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov HYPERCHOLESTEROLEMIA, FAMILIAL, 1; FHCL1 HYPERCHOLESTEROLEMIA, FAMILIAL, 2; FHCL2 HYPERCHOLESTEROLEMIA, FAMILIAL, 4; ...
    https://medlineplus.gov/.../condition/familial-hypercholesterolemia - Genetics
  2. LDLR gene 
    ... Kastelein JJ. Clinical, diagnostic, and therapeutic aspects of familial hypercholesterolemia. Semin Vasc Med. 2004 Feb;4(1):31-41. doi: 10.1055/s-2004-822984. ...
    https://medlineplus.gov/genetics/gene/ldlr - Genetics
  3. APOB gene 
    ... Kastelein JJ. Clinical, diagnostic, and therapeutic aspects of familial hypercholesterolemia. Semin Vasc Med. 2004 Feb;4(1):31-41. doi: 10.1055/s-2004-822984. ...
    https://medlineplus.gov/genetics/gene/apob - Genetics
  4. MTTP gene 
    ... transfer protein and lipoprotein assembly to treat homozygous familial hypercholesterolemia. Crit Rev Clin Lab Sci. 2017 Jan;54(1):26-48. doi: 10.1080/10408363.2016.1221883. ...
    https://medlineplus.gov/genetics/gene/mttp - Genetics
  5. Where can I read more about the diseases and traits covered in my direct-to-consumer genetic testing report?: ... 
    ... MUTYH-associated polyposis Age-related macular degeneration Alpha-1 antitrypsin deficiency Celiac disease Familial hypercholesterolemia Glucose-6-phosphate dehydrogenase deficiency , also called G6PD ...
    https://medlineplus.gov/.../dtcgenetictesting/dtcghrpages - Genetics
  6. 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
  7. LDLRAP1 gene 
    ... have been shown to cause a form of familial hypercholesterolemia called autosomal recessive hypercholesterolemia. These mutations lead to ... LDLRAP1 PubMed LOW DENSITY LIPOPROTEIN RECEPTOR ADAPTOR PROTEIN 1; LDLRAP1 NCBI Gene ClinVar Garcia CK, Wilund K, ...
    https://medlineplus.gov/genetics/gene/ldlrap1 - Genetics
  8. Congenital nephrotic syndrome 
    ... adolescence or early adulthood. Congenital nephrotic syndrome affects 1 to 3 per 100,000 children worldwide. In ... common, congenital nephrotic syndrome is estimated to affect 1 in 10,000 children. Mutations in the NPHS1 ...
    https://medlineplus.gov/.../condition/congenital-nephrotic-syndrome - Genetics