Summary

MedlinePlus is an online health information resource. It is a service of the National Library of Medicine (NLM), the world's largest medical library, which is part of the National Institutes of Health (NIH). To promote the transmission of knowledge, this entry collection contains information about the effects of genetic variation on human health transferred from MedlinePlus.

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Achondroplasia
Achondroplasia is a form of short-limbed dwarfism. The word achondroplasia literally means "without cartilage formation." Cartilage is a tough but flexible tissue that makes up much of the skeleton during early development. However, in achondroplasia the problem is not in forming cartilage but in converting it to bone (a process called ossification), particularly in the long bones of the arms and legs. Achondroplasia is similar to another skeletal disorder called hypochondroplasia, but the features of achondroplasia tend to be more severe.
  • 586
  • 23 Dec 2020
Topic Review
LCAT Gene
Lecithin-cholesterol acyltransferase
  • 430
  • 23 Dec 2020
Topic Review
Multiple Sulfatase Deficiency
Multiple sulfatase deficiency is a condition that mainly affects the brain, skin, and skeleton. Because the signs and symptoms of multiple sulfatase deficiency vary widely, researchers have split the condition into three types: neonatal, late-infantile, and juvenile.
  • 314
  • 23 Dec 2020
Topic Review
Von Willebrand Disease
Von Willebrand disease is a bleeding disorder that slows the blood clotting process, causing prolonged bleeding after an injury.
  • 393
  • 23 Dec 2020
Topic Review
Achondrogenesis
Achondrogenesis is a group of severe disorders that affect cartilage and bone development. These conditions are characterized by a small body, short limbs, and other skeletal abnormalities. As a result of serious health problems, infants with achondrogenesis usually die before birth, are stillborn, or die soon after birth from respiratory failure. However, some infants have lived for a short time with intensive medical support.
  • 521
  • 23 Dec 2020
Topic Review
CYP11B1 Gene
Cytochrome P450 Family 11 Subfamily B Member 1: The CYP11B1 gene provides instructions for making an enzyme called 11-beta-hydroxylase. 
  • 373
  • 23 Dec 2020
Topic Review
Juvenile Primary Osteoporosis
Juvenile primary osteoporosis is a skeletal disorder characterized by thinning of the bones (osteoporosis) that begins in childhood. Osteoporosis is caused by a shortage of calcium and other minerals in bones (decreased bone mineral density), which makes the bones brittle and prone to fracture.
  • 314
  • 23 Dec 2020
Topic Review
LBR Gene
Lamin B receptor
  • 410
  • 23 Dec 2020
Topic Review
Von Hippel-Lindau Syndrome
Von Hippel-Lindau syndrome is an inherited disorder characterized by the formation of tumors and fluid-filled sacs (cysts) in many different parts of the body. Tumors may be either noncancerous or cancerous and most frequently appear during young adulthood; however, the signs and symptoms of von Hippel-Lindau syndrome can occur throughout life.  
  • 380
  • 23 Dec 2020
Topic Review
Aceruloplasminemia
Aceruloplasminemia is a disorder in which iron gradually accumulates in the brain and other organs. Iron accumulation in the brain results in neurological problems that generally appear in adulthood and worsen over time.
  • 626
  • 23 Dec 2020
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