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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GH1 Gene
Growth hormone 1
  • 605
  • 25 Dec 2020
Topic Review
GFM1 Gene
G elongation factor mitochondrial 1
  • 459
  • 25 Dec 2020
Topic Review
GFAP Gene
Glial fibrillary acidic protein: The GFAP gene provides instructions for making a protein called glial fibrillary acidic protein. 
  • 377
  • 25 Dec 2020
Topic Review
Familial Hypercholesterolemia
Familial hypercholesterolemia is an inherited condition characterized by very high levels of cholesterol in the blood. Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods that come from animals (particularly egg yolks, meat, poultry, fish, and dairy products). The body needs this substance to build cell membranes, make certain hormones, and produce compounds that aid in fat digestion. In people with familial hypercholesterolemia, the body is unable to get rid of extra cholesterol, and it builds up in the blood. Too much cholesterol increases a person's risk of developing heart disease.
  • 449
  • 25 Dec 2020
Topic Review
Familial Hyperaldosteronism
Familial hyperaldosteronism is a group of inherited conditions in which the adrenal glands, which are small glands located on top of each kidney, produce too much of the hormone aldosterone. Aldosterone helps control the amount of salt retained by the kidneys. Excess aldosterone causes the kidneys to retain more salt than normal, which in turn increases the body's fluid levels and blood pressure. People with familial hyperaldosteronism may develop severe high blood pressure (hypertension), often early in life. Without treatment, hypertension increases the risk of strokes, heart attacks, and kidney failure.
  • 414
  • 25 Dec 2020
Topic Review
GDF6 Gene
Growth differentiation factor 6
  • 331
  • 25 Dec 2020
Topic Review
Familial Hemophagocytic Lymphohistiocytosis
Familial hemophagocytic lymphohistiocytosis is a disorder in which the immune system produces too many activated immune cells (lymphocytes) called T cells, natural killer cells, B cells, and macrophages (histiocytes). Excessive amounts of immune system proteins called cytokines are also produced. This overactivation of the immune system causes fever and damages the liver and spleen, resulting in enlargement of these organs.
  • 371
  • 25 Dec 2020
Topic Review
GDF3 Gene
Growth differentiation factor 3
  • 469
  • 25 Dec 2020
Topic Review
Septo-Optic Dysplasia
Septo-optic dysplasia is a disorder of early brain development.
  • 438
  • 25 Dec 2020
Topic Review
Familial Hemiplegic Migraine
Familial hemiplegic migraine is a form of migraine headache that runs in families. Migraines usually cause intense, throbbing pain in one area of the head, often accompanied by nausea, vomiting, and extreme sensitivity to light and sound. These recurrent headaches typically begin in childhood or adolescence and can be triggered by certain foods, emotional stress, and minor head trauma. Each headache may last from a few hours to a few days.
  • 501
  • 25 Dec 2020
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