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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NCF1 Gene
neutrophil cytosolic factor 1
  • 527
  • 23 Dec 2020
Topic Review
Hyperphosphatemic Familial Tumoral Calcinosis
Hyperphosphatemic familial tumoral calcinosis (HFTC) is a condition characterized by an increase in the levels of phosphate in the blood (hyperphosphatemia) and abnormal deposits of phosphate and calcium (calcinosis) in the body's tissues.
  • 380
  • 23 Dec 2020
Topic Review
Hyperparathyroidism-Jaw Tumor Syndrome
Hyperparathyroidism-jaw tumor syndrome is a condition characterized by overactivity of the parathyroid glands (hyperparathyroidism). The four parathyroid glands are located in the neck and secrete a hormone that regulates the body's use of calcium. Hyperparathyroidism disrupts the normal balance of calcium in the blood, which can lead to kidney stones, thinning of the bones (osteoporosis), nausea, vomiting, high blood pressure (hypertension), weakness, and fatigue.
  • 323
  • 23 Dec 2020
Topic Review
IDH2 Gene
Isocitrate dehydrogenase (NADP(+)) 2, mitochondrial
  • 334
  • 23 Dec 2020
Topic Review
NBN Gene
nibrin
  • 525
  • 23 Dec 2020
Topic Review
3-hydroxy-3-methylglutaryl-CoA Lyase Deficiency
3-hydroxy-3-methylglutaryl-CoA lyase deficiency (also known as HMG-CoA lyase deficiency) is an uncommon inherited disorder in which the body cannot process a particular protein building block (amino acid) called leucine. Additionally, the disorder prevents the body from making ketones, which are compounds that are used for energy during periods without food (fasting).
  • 506
  • 23 Dec 2020
Topic Review
Hypermethioninemia
Hypermethioninemia is an excess of a particular protein building block (amino acid), called methionine, in the blood. This condition can occur when methionine is not broken down (metabolized) properly in the body.
  • 1.1K
  • 23 Dec 2020
Topic Review
Hypermanganesemia with Dystonia
Hypermanganesemia with dystonia is an inherited disorder in which excessive amounts of the element manganese accumulate in the body (hypermanganesemia).
  • 418
  • 23 Dec 2020
Topic Review
NBEAL2 Gene
neurobeachin like 2
  • 355
  • 23 Dec 2020
Topic Review
Hyperlysinemia
Hyperlysinemia is an inherited condition characterized by elevated blood levels of the amino acid lysine, a building block of most proteins.
  • 471
  • 23 Dec 2020
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