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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Propionic Acidemia
Propionic acidemia is an inherited disorder in which the body is unable to process certain parts of proteins and lipids (fats) properly. It is classified as an organic acid disorder, which is a condition that leads to an abnormal buildup of particular acids known as organic acids. Abnormal levels of organic acids in the blood (organic acidemia), urine (organic aciduria), and tissues can be toxic and can cause serious health problems.
  • 333
  • 24 Dec 2020
Topic Review
F13B Gene
Coagulation factor XIII B chain
  • 338
  • 24 Dec 2020
Topic Review
Proopiomelanocortin Deficiency
Proopiomelanocortin (POMC) deficiency causes severe obesity that begins at an early age. In addition to obesity, people with this condition have low levels of a hormone known as adrenocorticotropic hormone (ACTH) and tend to have red hair and pale skin.
  • 731
  • 24 Dec 2020
Topic Review
F13A1 Gene
Coagulation factor XIII A chain
  • 2.4K
  • 24 Dec 2020
Topic Review
Prolidase Deficiency
Prolidase deficiency is a disorder that causes a wide variety of symptoms. The disorder typically becomes apparent during infancy. Affected individuals may have enlargement of the spleen (splenomegaly); in some cases, both the spleen and liver are enlarged (hepatosplenomegaly). Diarrhea, vomiting, and dehydration may also occur. People with prolidase deficiency are susceptible to severe infections of the skin or ears, or potentially life-threatening respiratory tract infections. Some individuals with prolidase deficiency have chronic lung disease.
  • 294
  • 24 Dec 2020
Topic Review
F12 Gene
Coagulation factor XII
  • 360
  • 24 Dec 2020
Topic Review
Progressive Supranuclear Palsy
Progressive supranuclear palsy is a brain disorder that affects movement, vision, speech, and thinking ability (cognition). The signs and symptoms of this disorder usually become apparent in mid- to late adulthood, most often in a person's 60s. Most people with progressive supranuclear palsy survive 5 to 9 years after the disease first appears, although a few affected individuals have lived for more than a decade.
  • 440
  • 24 Dec 2020
Topic Review
F11 Gene
Coagulation factor XI
  • 354
  • 24 Dec 2020
Topic Review
EZH2 Gene
Enhancer of zeste 2 polycomb repressive complex 2 subunit
  • 401
  • 29 Dec 2020
Topic Review
PABPN1 Gene
poly(A) binding protein nuclear 1
  • 324
  • 24 Dec 2020
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