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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Entries
Topic Review
GCK Gene
Glucokinase
  • 437
  • 25 Dec 2020
Topic Review
Sepiapterin Reductase Deficiency
Sepiapterin reductase deficiency is a condition characterized by movement problems, most often a pattern of involuntary, sustained muscle contractions known as dystonia.
  • 401
  • 25 Dec 2020
Topic Review
Familial Glucocorticoid Deficiency
Familial glucocorticoid deficiency is a condition that occurs when the adrenal glands, which are hormone-producing glands located on top of each kidney, do not produce certain hormones called glucocorticoids. These hormones, which include cortisol and corticosterone, aid in immune system function, play a role in maintaining normal blood sugar levels, help trigger nerve cell signaling in the brain, and serve many other purposes in the body.
  • 393
  • 25 Dec 2020
Topic Review
Senior-Løken Syndrome
Senior-Løken syndrome is a rare disorder characterized by the combination of two specific features: a kidney condition called nephronophthisis and an eye condition known as Leber congenital amaurosis.
  • 453
  • 25 Dec 2020
Topic Review
GCH1 Gene
GTP cyclohydrolase 1: The GCH1 gene provides instructions for making an enzyme called GTP cyclohydrolase 1. 
  • 346
  • 25 Dec 2020
Topic Review
GCDH Gene
Glutaryl-CoA dehydrogenase
  • 417
  • 25 Dec 2020
Topic Review
GBE1 Gene
1,4-alpha-glucan branching enzyme 1
  • 427
  • 25 Dec 2020
Topic Review
Severe Congenital Neutropenia
Severe congenital neutropenia is a condition that causes affected individuals to be prone to recurrent infections.
  • 383
  • 25 Dec 2020
Topic Review
GBA Gene
Glucosylceramidase beta
  • 396
  • 25 Dec 2020
Topic Review
Familial Exudative Vitreoretinopathy
Familial exudative vitreoretinopathy is a hereditary disorder that can cause progressive vision loss. This condition affects the retina, the specialized light-sensitive tissue that lines the back of the eye. The disorder prevents blood vessels from forming at the edges of the retina, which reduces the blood supply to this tissue.
  • 351
  • 25 Dec 2020
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