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
Pyruvate Carboxylase Deficiency
Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid and other potentially toxic compounds to accumulate in the blood. High levels of these substances can damage the body's organs and tissues, particularly in the nervous system.
  • 401
  • 24 Dec 2020
Topic Review
DHCR7 Gene
7-Dehydrocholesterol Reductase: The DHCR7 gene provides instructions for making an enzyme called 7-dehydrocholesterol reductase. 
  • 456
  • 24 Dec 2020
Topic Review
Cockayne Syndrome
Cockayne syndrome is a rare disorder characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development.
  • 545
  • 24 Dec 2020
Topic Review
Asparagine Synthetase Deficiency
Asparagine synthetase deficiency is a condition that causes neurological problems in affected individuals starting soon after birth. Most people with this condition have an unusually small head size (microcephaly) that worsens over time due to loss (atrophy) of brain tissue. They also have severe developmental delay that affects both mental and motor skills (psychomotor delay). Affected individuals cannot sit, crawl, or walk and are unable to communicate verbally or nonverbally. The few affected children who achieve developmental milestones often lose these skills over time (developmental regression).
  • 489
  • 24 Dec 2020
Topic Review
DHCR24 Gene
24-Dehydrocholesterol Reductase
  • 358
  • 24 Dec 2020
Topic Review
Coats Plus Syndrome
Coats plus syndrome is an inherited condition characterized by an eye disorder called Coats disease plus abnormalities of the brain, bones, gastrointestinal system, and other parts of the body.
  • 453
  • 24 Dec 2020
Topic Review
SAA1 Gene
serum amyloid A1
  • 356
  • 24 Dec 2020
Topic Review
Arts Syndrome
Arts syndrome is a disorder that causes serious neurological problems in males. Females can also be affected by this condition, but they typically have much milder symptoms.
  • 609
  • 24 Dec 2020
Topic Review
ATP1A2 Gene
ATPase Na+/K+ transporting subunit alpha 2
  • 400
  • 24 Dec 2020
Topic Review
Cleidocranial Dysplasia
Cleidocranial dysplasia is a condition that primarily affects development of the bones and teeth. Signs and symptoms of cleidocranial dysplasia can vary widely in severity, even within the same family.
  • 409
  • 24 Dec 2020
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