※ PTMD 2.0 database Online Browse Options

Browse result for Recessive metabolic bone disorder

※ introduction

    Osteogenesis imperfecta, colloquially known as brittle bone disease, is a group of genetic disorders that all result in bones that break easily.[1]:?85?[9] The range of symptoms¡ªon the skeleton as well as on the body's other organs¡ªmay be mild to severe.[5]:?1512? Symptoms found in various types of OI include whites of the eye (sclerae) that are blue instead, short stature, loose joints, hearing loss, breathing problems[10] and problems with the teeth (dentinogenesis imperfecta).[5] Potentially life-threatening complications, all of which become more common in more severe OI, include: tearing (dissection) of the major arteries, such as the aorta;[1]:?333?[11] pulmonary valve insufficiency secondary to distortion of the ribcage;[1]:?335¨C341?[12] and basilar invagination.

Reference
Wiki: Recessive metabolic bone disorder



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD00863P024521277
COL1A1
Collagen alpha-1 chain
Homo sapiens