Skip to main content
U.S. flag

An official website of the United States government

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.

Search help
15 results
  1. Classic Ehlers-Danlos Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1244
    ... or COL5A2 . The majority of pathogenic variants in COL1A1 are associated with osteogenesis imperfecta (OI). Rarely, specific pathogenic variants in COL1A1 are associated with arthrochalasia EDS (OMIM 130060 ), EDS/OI overlap ...
  2. Hypermobile Ehlers-Danlos Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1279
    ... fragility syndrome (see Differential Diagnosis ), analysis of an associated gene or multigene connective tissue disease panel may be appropriate. Failure to identify a ...
  3. COL1A1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/col1a1
    ... of blood vessels, intestines, and other organs. One COL1A1 gene mutation that has been associated with both the classical and vascular types of ... weaken connective tissue, causing the signs and symptoms associated with these two ... in the COL1A1 gene (called a polymorphism) appears to increase the ...
  4. Loeys-Dietz Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1133
    ... rupture of the spleen and bowel and pregnancy-associated risks is recommended. Prevention of Secondary Complications Use of subacute bacterial endocarditis prophylaxis should be considered for individuals with connective tissue disorders and documented evidence of mitral and/or aortic ...
  5. Dermatofibrosarcoma protuberans: MedlinePlus Genetics 
    https://medlineplus.gov/.../dermatofibrosarcoma-protuberans
    ... identified. Learn more about the genes and chromosomes associated with Dermatofibrosarcoma protuberans COL1A1 PDGFB chromosome 17 chromosome 22 Inheritance Dermatofibrosarcoma protuberans ...
  6. COL1A2 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/col1a2
    ... collagen is incorporated into developing bones and other connective tissues, it causes the serious medical problems associated with severe forms of osteogenesis imperfecta. More About This Health Condition Other disorders People with certain COL1A2 mutations exhibit the signs ...
  7. Osteogenesis imperfecta: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/osteogenesis-imperfecta
    ... to fracture easily. Learn more about the genes associated with Osteogenesis imperfecta COL1A1 COL1A2 FKBP10 Additional Information from NCBI Gene: BMP1 ...
  8. Caffey disease: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/caffey-disease
    ... of Caffey disease. Learn more about the gene associated with Caffey disease COL1A1 Inheritance This condition is inherited in an autosomal ...
  9. Ehlers-Danlos syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/ehlers-danlos-syndrome
    ... of these conditions. Learn more about the genes associated with Ehlers-Danlos syndrome ADAMTS2 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 FKBP14 PLOD1 TNXB Additional ...
  10. Carpal tunnel syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/carpal-tunnel-syndrome
    ... related health conditions. Learn more about the genes associated with Carpal tunnel syndrome COL11A1 COL1A1 COL5A1 TTR Additional Information from NCBI Gene: BGN ...
previous · 1 · 2 · next