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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XPA Gene
XPA, DNA damage recognition and repair factor: The XPA gene provides instructions for making a protein that is involved in repairing damaged DNA. DNA can be damaged by ultraviolet (UV) rays from the sun and by toxic chemicals, radiation, and unstable molecules called free radicals.
  • 458
  • 24 Dec 2020
Topic Review
Noonan Syndrome with Multiple Lentigines
Noonan syndrome with multiple lentigines (formerly called LEOPARD syndrome) is a condition that affects many areas of the body. As the condition name suggests, Noonan syndrome with multiple lentigines is very similar to a condition called Noonan syndrome, and it can be difficult to tell the two disorders apart in early childhood. However, the features of these two conditions differ later in life. The characteristic features of Noonan syndrome with multiple lentigines include brown skin spots called lentigines that are similar to freckles, heart defects, widely spaced eyes (ocular hypertelorism), a sunken chest (pectus excavatum) or protruding chest (pectus carinatum), and short stature. These features vary, however, even among affected individuals in the same family. Not all individuals with Noonan syndrome with multiple lentigines have all the characteristic features of this condition.
  • 370
  • 24 Dec 2020
Topic Review
XDH Gene
Xanthine dehydrogenase
  • 491
  • 24 Dec 2020
Topic Review
Noonan Syndrome
Noonan syndrome is a condition that affects many areas of the body. It is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms.
  • 589
  • 24 Dec 2020
Topic Review
WT1 Gene
Wilms tumor 1: the WT1 gene provides instructions for making a protein that is necessary for the development of the kidneys and gonads (ovaries in females and testes in males) before birth. After birth, WT1 protein activity is limited to a structure known as the glomerulus, which filters blood through the kidneys. 
  • 437
  • 24 Dec 2020
Topic Review
Nonsyndromic Paraganglioma
Paraganglioma is a type of noncancerous (benign) tumor that occurs in structures called paraganglia.
  • 414
  • 24 Dec 2020
Topic Review
WRN Gene
Werner syndrome RecQ like helicase: the WRN gene provides instructions for producing the Werner protein, which plays a critical role in repairing damaged DNA. The Werner protein functions as a type of enzyme called a helicase.
  • 475
  • 24 Dec 2020
Topic Review
Nonsyndromic Holoprosencephaly
Nonsyndromic holoprosencephaly is an abnormality of brain development that also affects the head and face.
  • 393
  • 24 Dec 2020
Topic Review
SUCLG1 Gene
Succinate-CoA ligase alpha subunit: The SUCLG1 gene provides instructions for making one part, the alpha subunit, of an enzyme called succinate-CoA ligase.
  • 352
  • 24 Dec 2020
Topic Review
Cherubism
Cherubism is a disorder characterized by abnormal bone tissue in the jaw. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths. These growths give the cheeks a swollen, rounded appearance and often interfere with normal tooth development. In some people the condition is so mild that it may not be noticeable, while other cases are severe enough to cause problems with vision, breathing, speech, and swallowing. Enlargement of the jaw usually continues throughout childhood and stabilizes during puberty. The abnormal growths are gradually replaced with normal bone in early adulthood. As a result, many affected adults have a normal facial appearance.
  • 530
  • 24 Dec 2020
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