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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Carnitine-Acylcarnitine Translocase Deficiency
Carnitine-acylcarnitine translocase (CACT) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). Signs and symptoms of this disorder usually begin soon after birth and may include breathing problems, seizures, and an irregular heartbeat (arrhythmia). Affected individuals typically have low blood sugar (hypoglycemia) and a low level of ketones, which are produced during the breakdown of fats and used for energy. Together these signs are called hypoketotic hypoglycemia. People with CACT deficiency also usually have excess ammonia in the blood (hyperammonemia), an enlarged liver (hepatomegaly), and a weakened heart muscle (cardiomyopathy).
  • 350
  • 19 Apr 2021
Topic Review
Czech Dysplasia
Czech dysplasia is an inherited condition that affects joint function and bone development.
  • 418
  • 19 Apr 2021
Topic Review
SDHA Gene
succinate dehydrogenase complex flavoprotein subunit A
  • 468
  • 19 Apr 2021
Topic Review
COG4 Gene
component of oligomeric golgi complex 4
  • 360
  • 19 Apr 2021
Topic Review
Rotor Syndrome
Rotor syndrome is a relatively mild condition characterized by elevated levels of a substance called bilirubin in the blood (hyperbilirubinemia).
  • 471
  • 19 Apr 2021
Topic Review
Carnitine Palmitoyltransferase II Deficiency
Carnitine palmitoyltransferase II (CPT II) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). There are three main types of CPT II deficiency: a lethal neonatal form, a severe infantile hepatocardiomuscular form, and a myopathic form.
  • 370
  • 19 Apr 2021
Topic Review
CNGB3 Gene
cyclic nucleotide gated channel beta 3
  • 363
  • 19 Apr 2021
Topic Review
SCNN1G Gene
sodium channel epithelial 1 gamma subunit
  • 306
  • 24 Dec 2020
Topic Review
Carnitine Palmitoyltransferase I Deficiency
Carnitine palmitoyltransferase I (CPT I) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). The severity of this condition varies among affected individuals.
  • 330
  • 24 Dec 2020
Topic Review
CNGA3 Gene
cyclic nucleotide gated channel alpha 3
  • 322
  • 24 Dec 2020
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