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.

Expand All
Entries
Topic Review
ETHE1 Gene
ETHE1, persulfide dioxygenase
  • 334
  • 24 Dec 2020
Topic Review
Primary Carnitine Deficiency
Primary carnitine deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy.
  • 476
  • 24 Dec 2020
Topic Review
Duane-radial Ray Syndrome
Duane-radial ray syndrome is a disorder that affects the eyes and causes abnormalities of bones in the arms and hands. This condition is characterized by a particular problem with eye movement called Duane anomaly (also known as Duane syndrome). This abnormality results from the improper development of certain nerves that control eye movement. Duane anomaly limits outward eye movement (toward the ear), and in some cases may limit inward eye movement (toward the nose). Also, as the eye moves inward, the eye opening becomes narrower and the eyeball may pull back (retract) into its socket.
  • 433
  • 24 Dec 2020
Topic Review
SLCO1B1 Gene
solute carrier organic anion transporter family member 1B1
  • 494
  • 24 Dec 2020
Topic Review
ALAS2 Gene
5'-aminolevulinate synthase 2
  • 392
  • 24 Dec 2020
Topic Review
AKT3 Gene
AKT serine/threonine kinase 3
  • 387
  • 24 Dec 2020
Topic Review
Dowling-Degos Disease
Dowling-Degos disease is a skin condition characterized by a lacy or net-like (reticulate) pattern of abnormally dark skin coloring (hyperpigmentation), particularly in the body's folds and creases. These skin changes typically first appear in the armpits and groin area and can later spread to other skin folds such as the crook of the elbow, back of the knee, and under the breasts. Less commonly, pigmentation changes can also occur on the neck, wrists, back of the hands, face, scalp, scrotum, and vulva. These areas of hyperpigmentation typically cause no health problems.
  • 342
  • 24 Dec 2020
Topic Review
Prader-Willi Syndrome
Prader-Willi syndrome is a complex genetic condition that affects many parts of the body. In infancy, this condition is characterized by weak muscle tone (hypotonia), feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating (hyperphagia) and obesity. Some people with Prader-Willi syndrome, particularly those with obesity, also develop type 2 diabetes (the most common form of diabetes).
  • 357
  • 24 Dec 2020
Topic Review
AKT1 Gene
AKT serine/threonine kinase 1
  • 574
  • 24 Dec 2020
Topic Review
ESCO2 Gene
Establishment of sister chromatid cohesion N-acetyltransferase 2
  • 419
  • 24 Dec 2020
  • Page
  • of
  • 215

Featured Entry Collections

>>