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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Tyrosinemia
Tyrosinemia is a genetic disorder characterized by disruptions in the multistep process that breaks down the amino acid tyrosine, a building block of most proteins. If untreated, tyrosine and its byproducts build up in tissues and organs, which can lead to serious health problems.    
  • 440
  • 23 Dec 2020
Topic Review
KDM6A Gene
Lysine demethylase 6A
  • 326
  • 23 Dec 2020
Topic Review
Tyrosine Hydroxylase Deficiency
Tyrosine hydroxylase (TH) deficiency is a disorder that primarily affects movement, with symptoms that may range from mild to severe.  
  • 518
  • 23 Dec 2020
Topic Review
Mucopolysaccharidosis Type I
Mucopolysaccharidosis type I (MPS I) is a condition that affects many parts of the body. This disorder was once divided into three separate syndromes: Hurler syndrome (MPS I-H), Hurler-Scheie syndrome (MPS I-H/S), and Scheie syndrome (MPS I-S), listed from most to least severe. Because there is so much overlap between each of these three syndromes, MPS I is currently divided into the severe and attenuated types.
  • 346
  • 23 Dec 2020
Topic Review
KCNT1 Gene
Potassium sodium-activated channel subfamily T member 1
  • 357
  • 23 Dec 2020
Topic Review
Type A Insulin Resistance Syndrome
Type A insulin resistance syndrome is a rare disorder characterized by severe insulin resistance, a condition in which the body's tissues and organs do not respond properly to the hormone insulin.
  • 456
  • 23 Dec 2020
Topic Review
Mucolipidosis Type IV
Mucolipidosis type IV is an inherited disorder characterized by delayed development and vision impairment that worsens over time. The severe form of the disorder is called typical mucolipidosis type IV, and the mild form is called atypical mucolipidosis type IV.
  • 366
  • 23 Dec 2020
Topic Review
KCNQ4 Gene
Potassium voltage-gated channel subfamily Q member 4
  • 364
  • 23 Dec 2020
Topic Review
Type 2 Diabetes
Type 2 diabetes is a disorder characterized by abnormally high blood sugar levels. In this form of diabetes, the body stops using and making insulin properly. Insulin is a hormone produced in the pancreas that helps regulate blood sugar levels. Specifically, insulin controls how much glucose (a type of sugar) is passed from the blood into cells, where it is used as an energy source. When blood sugar levels are high (such as after a meal), the pancreas releases insulin to move the excess glucose into cells, which reduces the amount of glucose in the blood.
  • 846
  • 07 Apr 2023
Topic Review
KCNQ3 Gene
Potassium voltage-gated channel subfamily Q member 3
  • 399
  • 23 Dec 2020
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