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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EIF2AK4 Gene
Eukaryotic translation initiation factor 2 alpha kinase 4
  • 374
  • 25 Dec 2020
Topic Review
Familial Partial Lipodystrophy
Familial partial lipodystrophy is a rare condition characterized by an abnormal distribution of fatty (adipose) tissue. Adipose tissue is normally found in many parts of the body, including beneath the skin and surrounding the internal organs. It stores fat as a source of energy and also provides cushioning. In people with familial partial lipodystrophy, adipose tissue is lost from the arms, legs, and hips, giving these parts of the body a very muscular appearance. The fat that cannot be stored in the limbs builds up around the face and neck, and inside the abdomen. Excess fat in these areas gives individuals an appearance described as "cushingoid," because it resembles the physical features associated with a hormonal disorder called Cushing disease. This abnormal fat distribution can begin anytime from childhood to adulthood.
  • 365
  • 25 Dec 2020
Topic Review
Familial Paroxysmal Nonkinesigenic Dyskinesia
Familial paroxysmal nonkinesigenic dyskinesia is a disorder of the nervous system that causes episodes of involuntary movement. Paroxysmal indicates that the abnormal movements come and go over time. Nonkinesigenic means that episodes are not triggered by sudden movement. Dyskinesia broadly refers to involuntary movement of the body.
  • 399
  • 25 Dec 2020
Topic Review
DCN Gene
Decorin
  • 425
  • 25 Dec 2020
Topic Review
Familial Paroxysmal Kinesigenic Dyskinesia
Familial paroxysmal kinesigenic dyskinesia is a disorder characterized by episodes of abnormal movement that range from mild to severe. In the condition name, the word paroxysmal indicates that the abnormal movements come and go over time, kinesigenic means that episodes are triggered by movement, and dyskinesia refers to involuntary movement of the body.
  • 418
  • 25 Dec 2020
Topic Review
Familial Osteochondritis Dissecans
Familial osteochondritis dissecans is a condition that affects the joints and is associated with abnormal cartilage. Cartilage is a tough but flexible tissue that covers the ends of the bones at joints and is also part of the developing skeleton.
  • 400
  • 25 Dec 2020
Topic Review
GLB1 Gene
Galactosidase beta 1
  • 446
  • 25 Dec 2020
Topic Review
Familial Male-limited Precocious Puberty
Familial male-limited precocious puberty is a condition that causes early sexual development in males; females are not affected.
  • 640
  • 20 Apr 2023
Topic Review
Familial Lipoprotein Lipase Deficiency
Familial lipoprotein lipase deficiency is an inherited condition that disrupts the normal breakdown of fats in the body, resulting in an increase of certain kinds of fats.
  • 394
  • 25 Dec 2020
Topic Review
GJC2 Gene
Gap junction protein gamma 2
  • 376
  • 25 Dec 2020
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