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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Topic Review
SLC6A3 Gene
solute carrier family 6 member 3
  • 323
  • 24 Dec 2020
Topic Review
Dopamine Transporter Deficiency Syndrome
Dopamine transporter deficiency syndrome is a rare movement disorder. The condition is also known as infantile parkinsonism-dystonia because the problems with movement (dystonia and parkinsonism, described below) usually start in infancy and worsen over time. However, the features of the condition sometimes do not appear until childhood or later.
  • 476
  • 24 Dec 2020
Topic Review
Potocki-Shaffer Syndrome
Potocki-Shaffer syndrome is a disorder that affects development of the bones, nerve cells in the brain, and other tissues.
  • 655
  • 24 Dec 2020
Topic Review
ERCC8 Gene
ERCC excision repair 8, CSA ubiquitin ligase complex subunit
  • 306
  • 24 Dec 2020
Topic Review
AIRE Gene
autoimmune regulator
  • 399
  • 24 Dec 2020
Topic Review
Dopamine Beta-hydroxylase Deficiency
Dopamine beta (β)-hydroxylase deficiency is a condition that affects the autonomic nervous system, which controls involuntary body processes such as the regulation of blood pressure and body temperature. Problems related to this disorder can first appear during infancy. Early signs and symptoms may include episodes of vomiting, dehydration, decreased blood pressure (hypotension), difficulty maintaining body temperature, and low blood sugar (hypoglycemia).
  • 405
  • 24 Dec 2020
Topic Review
AIP Gene
aryl hydrocarbon receptor interacting protein
  • 399
  • 24 Dec 2020
Topic Review
SLC5A5 Gene
solute carrier family 5 member 5
  • 460
  • 24 Dec 2020
Topic Review
ERCC6 Gene
ERCC excision repair 6, chromatin remodeling factor
  • 441
  • 24 Dec 2020
Topic Review
Potocki-Lupski Syndrome
Potocki-Lupski syndrome is a condition that results from having an extra copy (duplication) of a small piece of chromosome 17 in each cell. The duplication occurs on the short (p) arm of the chromosome at a position designated p11.2. This condition is also known as 17p11.2 duplication syndrome.
  • 898
  • 24 Dec 2020
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