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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Familial Erythrocytosis
Familial erythrocytosis is an inherited condition characterized by an increased number of red blood cells (erythrocytes).
  • 596
  • 25 Dec 2020
Topic Review
GATA1 Gene
GATA binding protein 1
  • 385
  • 25 Dec 2020
Topic Review
Familial Dysautonomia
Familial dysautonomia is a genetic disorder that affects the development and survival of certain nerve cells. The disorder disturbs cells in the autonomic nervous system, which controls involuntary actions such as digestion, breathing, production of tears, and the regulation of blood pressure and body temperature. It also affects the sensory nervous system, which controls activities related to the senses, such as taste and the perception of pain, heat, and cold. Familial dysautonomia is also called hereditary sensory and autonomic neuropathy, type III.
  • 410
  • 25 Dec 2020
Topic Review
GAN Gene
Gigaxonin
  • 406
  • 25 Dec 2020
Topic Review
Familial Dilated Cardiomyopathy
Familial dilated cardiomyopathy is a genetic form of heart disease. It occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure.
  • 336
  • 25 Dec 2020
Topic Review
Sheldon-Hall Syndrome
Sheldon-Hall syndrome, also known as distal arthrogryposis type 2B, is a disorder characterized by joint deformities (contractures) that restrict movement in the hands and feet.
  • 668
  • 25 Dec 2020
Topic Review
Shprintzen-Goldberg Syndrome
Shprintzen-Goldberg syndrome is a disorder that affects many parts of the body.
  • 559
  • 25 Dec 2020
Topic Review
GALT Gene
Galactose-1-phosphate uridylyltransferase
  • 434
  • 25 Dec 2020
Topic Review
Familial Cylindromatosis
Familial cylindromatosis is a condition involving multiple skin tumors that develop from structures associated with the skin (skin appendages), such as hair follicles and sweat glands. People with familial cylindromatosis typically develop large numbers of tumors called cylindromas. While previously thought to derive from sweat glands, cylindromas are now generally believed to begin in hair follicles.
  • 470
  • 25 Dec 2020
Topic Review
Short/Branched Chain Acyl-CoA Dehydrogenase Deficiency
Short/branched chain acyl-CoA dehydrogenase (SBCAD) deficiency (also known as 2-methylbutyryl-CoA dehydrogenase deficiency) is a rare disorder in which the body is unable to process proteins properly.
  • 419
  • 25 Dec 2020
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