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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LARGE1 Gene
LARGE xylosyl- and glucuronyltransferase 1
  • 373
  • 23 Dec 2020
Topic Review
Vohwinkel Syndrome
Vohwinkel syndrome is a disorder with classic and variant forms, both of which affect the skin.  
  • 451
  • 23 Dec 2020
Topic Review
Vitelliform Macular Dystrophy
Vitelliform macular dystrophy is a genetic eye disorder that can cause progressive vision loss. This disorder affects the retina, the specialized light-sensitive tissue that lines the back of the eye. Specifically, vitelliform macular dystrophy disrupts cells in a small area near the center of the retina called the macula. The macula is responsible for sharp central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. Vitelliform macular dystrophy causes a fatty yellow pigment (lipofuscin) to build up in cells underlying the macula. Over time, the abnormal accumulation of this substance can damage cells that are critical for clear central vision. As a result, people with this disorder often lose their central vision, and their eyesight may become blurry or distorted. Vitelliform macular dystrophy typically does not affect side (peripheral) vision or the ability to see at night. Researchers have described two forms of vitelliform macular dystrophy with similar features. The early-onset form (known as Best disease) usually appears in childhood; the onset of symptoms and the severity of vision loss vary widely. The adult-onset form begins later, usually in mid-adulthood, and tends to cause vision loss that worsens slowly over time. The two forms of vitelliform macular dystrophy each have characteristic changes in the macula that can be detected during an eye examination.
  • 464
  • 23 Dec 2020
Topic Review
Acatalasemia
Acatalasemia is a condition characterized by very low levels of an enzyme called catalase. Many people with acatalasemia never have any health problems related to the condition and are diagnosed because they have affected family members.
  • 714
  • 04 Feb 2021
Topic Review
LAMP2 Gene
Lysosomal associated membrane protein 2
  • 328
  • 23 Dec 2020
Topic Review
CYLD Gene
CYLD Lysine 63 Deubiquitinase
  • 300
  • 23 Dec 2020
Topic Review
LAMC2 Gene
Laminin subunit gamma 2
  • 263
  • 23 Dec 2020
Topic Review
Vitamin D-dependent Rickets
Vitamin D-dependent rickets is a disorder of bone development that leads to softening and weakening of the bones (rickets).
  • 1.0K
  • 23 Dec 2020
Topic Review
Abetalipoproteinemia
Abetalipoproteinemia is an inherited disorder that impairs the normal absorption of fats and certain vitamins from the diet. Many of the signs and symptoms of abetalipoproteinemia result from a severe shortage (deficiency) of fat-soluble vitamins (vitamins A, E, and K). The signs and symptoms of this condition primarily affect the gastrointestinal system, eyes, nervous system, and blood.
  • 504
  • 23 Dec 2020
Topic Review
LAMB3 Gene
Laminin subunit beta 3
  • 375
  • 23 Dec 2020
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