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
ZMPSTE24 Gene
Zinc metallopeptidase STE24: the ZMPSTE24 gene provides instructions for making a protein that acts as a protease.
  • 439
  • 24 Dec 2020
Topic Review
Adult Polyglucosan Body Disease
Adult polyglucosan body disease (APBD) is a condition that affects the nervous system. People with APBD typically first experience signs and symptoms related to the condition between ages 35 and 60. Initial symptoms of the disorder include numbness and tingling in the legs (peripheral neuropathy) and progressive muscle weakness and stiffness (spasticity). As a result, affected individuals can have an unsteady gait, poor balance, and an increased risk of falling.  
  • 546
  • 24 Dec 2020
Topic Review
Oculopharyngeal Muscular Dystrophy
Oculopharyngeal muscular dystrophy is a genetic condition characterized by muscle weakness that begins in adulthood, typically after age 40.
  • 428
  • 24 Dec 2020
Topic Review
Adolescent Idiopathic Scoliosis
Adolescent idiopathic scoliosis is an abnormal curvature of the spine that appears in late childhood or adolescence. Instead of growing straight, the spine develops a side-to-side curvature, usually in an elongated "S" or "C" shape; the bones of the spine are also slightly twisted or rotated.
  • 372
  • 24 Dec 2020
Topic Review
ZIC2 Gene
Zic family member 2
  • 419
  • 24 Dec 2020
Topic Review
ALX4 Gene
ALX homeobox 4. The ALX4 gene provides instructions for making a member of the homeobox protein family.
  • 517
  • 24 Dec 2020
Topic Review
Adiposis Dolorosa
Adiposis dolorosa is a condition characterized by painful folds of fatty (adipose) tissue or the growth of multiple noncancerous (benign) fatty tumors called lipomas. This condition occurs most often in women who are overweight or obese, and signs and symptoms typically appear between ages 35 and 50.  
  • 420
  • 24 Dec 2020
Topic Review
Pulmonary Veno-occlusive Disease
Pulmonary veno-occlusive disease (PVOD) is characterized by the blockage (occlusion) of the blood vessels that carry oxygen-rich (oxygenated) blood from the lungs to the heart (the pulmonary veins).
  • 349
  • 24 Dec 2020
Topic Review
Adenylosuccinate Lyase Deficiency
Adenylosuccinate lyase deficiency is a neurological disorder that causes brain dysfunction (encephalopathy) leading to delayed development of mental and movement abilities (psychomotor delay), autistic behaviors that affect communication and social interaction, and seizures. A characteristic feature that can help with diagnosis of this condition is the presence of chemicals called succinylaminoimidazole carboxamide riboside (SAICAr) and succinyladenosine (S-Ado) in body fluids.
  • 374
  • 24 Dec 2020
Topic Review
Adenosine Deaminase Deficiency
Adenosine deaminase (ADA) deficiency is an inherited disorder that damages the immune system and causes severe combined immunodeficiency (SCID). People with SCID lack virtually all immune protection from bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or life-threatening. These infections are often caused by "opportunistic" organisms that ordinarily do not cause illness in people with a normal immune system.
  • 550
  • 24 Dec 2020
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