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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Leber Congenital Amaurosis
Leber congenital amaurosis is an eye disorder that primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this disorder typically have severe visual impairment beginning in infancy. The visual impairment tends to be stable, although it may worsen very slowly over time.
  • 452
  • 23 Dec 2020
Topic Review
Leber Hereditary Optic Neuropathy
Leber hereditary optic neuropathy (LHON) is an inherited form of vision loss.
  • 380
  • 23 Dec 2020
Topic Review
MAP2K1 Gene
Mitogen-activated protein kinase kinase 1
  • 428
  • 23 Dec 2020
Topic Review
Naegeli-Franceschetti-Jadassohn Syndrome/Dermatopathia Pigmentosa Reticularis
Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis (NFJS/DPR) represents a rare type of ectodermal dysplasia, a group of about 150 conditions characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth, and sweat glands. NFJS and DPR were originally described as separate conditions; however, because they have similar features and are caused by mutations in the same gene, they are now often considered forms of the same disorder.
  • 401
  • 23 Dec 2020
Topic Review
Left Ventricular Noncompaction
Left ventricular noncompaction is a heart (cardiac) muscle disorder that occurs when the lower left chamber of the heart (left ventricle), which helps the heart pump blood, does not develop correctly.
  • 327
  • 23 Dec 2020
Topic Review
MAOA Gene
Monoamine oxidase A
  • 536
  • 23 Dec 2020
Topic Review
N-acetylglutamate Synthase Deficiency
N-acetylglutamate synthase deficiency is a disorder that causes abnormally high levels of ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The brain is especially sensitive to the effects of excess ammonia.
  • 330
  • 23 Dec 2020
Topic Review
MAGT1 Gene
Magnesium transporter 1
  • 336
  • 23 Dec 2020
Topic Review
LZTR1 Gene
Leucine zipper like transcription regulator 1
  • 416
  • 23 Dec 2020
Topic Review
Acute Necrotizing Encephalopathy Type 1
Acute necrotizing encephalopathy type 1, also known as susceptibility to infection-induced acute encephalopathy 3 or IIAE3, is a rare type of brain disease (encephalopathy) that occurs following a viral infection such as the flu.
  • 456
  • 23 Dec 2020
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