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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Autoimmune Addison Disease
Autoimmune Addison disease affects the function of the adrenal glands, which are small hormone-producing glands located on top of each kidney. It is classified as an autoimmune disorder because it results from a malfunctioning immune system that attacks the adrenal glands. As a result, the production of several hormones is disrupted, which affects many body systems.
  • 388
  • 24 Dec 2020
Topic Review
PPM-X Syndrome
PPM-X syndrome is a condition characterized by psychotic disorders (most commonly bipolar disorder), a pattern of movement abnormalities known as parkinsonism, and mild to severe intellectual disability with impaired language development.
  • 688
  • 24 Dec 2020
Topic Review
Common Variable Immune Deficiency
Common variable immune deficiency (CVID) is a disorder that impairs the immune system.
  • 427
  • 24 Dec 2020
Topic Review
Raynaud Phenomenon
Raynaud phenomenon is a condition in which the body's normal response to cold or emotional stress is exaggerated, resulting in abnormal spasms (vasospasms) in small blood vessels called arterioles.
  • 343
  • 24 Dec 2020
Topic Review
PMM2-Congenital Disorder of Glycosylation
PMM2-congenital disorder of glycosylation (PMM2-CDG, also known as congenital disorder of glycosylation type Ia) is an inherited condition that affects many parts of the body. The type and severity of problems associated with PMM2-CDG vary widely among affected individuals, sometimes even among members of the same family.
  • 371
  • 07 Mar 2021
Topic Review
Combined Pituitary Hormone Deficiency
Combined pituitary hormone deficiency is a condition that causes a shortage (deficiency) of several hormones produced by the pituitary gland, which is located at the base of the brain. A lack of these hormones may affect the development of many parts of the body. The first signs of this condition include a failure to grow at the expected rate and short stature that usually becomes apparent in early childhood.
  • 354
  • 24 Dec 2020
Topic Review
PGM3-Congenital Disorder of Glycosylation
PGM3-congenital disorder of glycosylation (PGM3-CDG) is an inherited condition that primarily affects the immune system but can also involve other areas of the body. The pattern and severity of this disorder's signs and symptoms typically vary.
  • 396
  • 24 Dec 2020
Topic Review
Rapid-Onset Dystonia Parkinsonism
Rapid-onset dystonia parkinsonism is a rare movement disorder.
  • 608
  • 24 Dec 2020
Topic Review
Combined Oxidative Phosphorylation Deficiency 1
Combined oxidative phosphorylation deficiency 1 is a severe condition that primarily impairs neurological and liver function.
  • 378
  • 24 Dec 2020
Topic Review
PDGFRB-Associated Chronic Eosinophilic Leukemia
PDGFRB-associated chronic eosinophilic leukemia is a type of cancer of blood-forming cells.
  • 307
  • 24 Dec 2020
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