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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Partington Syndrome
Partington syndrome is a neurological disorder that causes intellectual disability along with a condition called focal dystonia that particularly affects movement of the hands. Partington syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe.
  • 971
  • 17 Jun 2021
Topic Review
CHRNA4 Gene
cholinergic receptor nicotinic alpha 4 subunit
  • 349
  • 24 Dec 2020
Topic Review
CHRNA2 Gene
cholinergic receptor nicotinic alpha 2 subunit
  • 347
  • 24 Dec 2020
Topic Review
Cyclic Neutropenia
Cyclic neutropenia is a disorder that causes frequent infections and other health problems in affected individuals.
  • 393
  • 24 Dec 2020
Topic Review
Wolfram Syndrome
Wolfram syndrome is a condition that affects many of the body's systems.
  • 485
  • 24 Dec 2020
Topic Review
Caffey Disease
Caffey disease, also called infantile cortical hyperostosis, is a bone disorder that most often occurs in babies. Excessive new bone formation (hyperostosis) is characteristic of Caffey disease. The bone abnormalities mainly affect the jawbone, shoulder blades (scapulae), collarbones (clavicles), and the shafts (diaphyses) of long bones in the arms and legs. Affected bones may double or triple in width, which can be seen by x-ray imaging. In some cases two bones that are next to each other, such as two ribs or the pairs of long bones in the forearms (radius and ulna) or lower legs (tibia and fibula) become fused together. Babies with Caffey disease also have swelling of joints and of soft tissues such as muscles, with pain and redness in the affected areas. Affected infants can also be feverish and irritable.
  • 338
  • 24 Dec 2020
Topic Review
CHMP2B Gene
charged multivesicular body protein 2B
  • 254
  • 24 Dec 2020
Topic Review
NPM1 Gene
nucleophosmin 1
  • 369
  • 24 Dec 2020
Topic Review
COL4A1-Related Brain Small-Vessel Disease
COL4A1-related brain small-vessel disease is part of a group of conditions called the COL4A1-related disorders. The conditions in this group have a range of signs and symptoms that involve fragile blood vessels. COL4A1-related brain small-vessel disease is characterized by weakening of the blood vessels in the brain. Stroke is often the first symptom of this condition, typically occurring in mid-adulthood. In affected individuals, stroke is usually caused by bleeding in the brain (hemorrhagic stroke) rather than a lack of blood flow in the brain (ischemic stroke), although either type can occur. Individuals with this condition are at increased risk of having more than one stroke in their lifetime. People with COL4A1-related brain small vessel disease also have leukoencephalopathy, which is a change in a type of brain tissue called white matter that can be seen with magnetic resonance imaging (MRI). Affected individuals may also experience seizures and migraine headaches accompanied by visual sensations known as auras.
  • 544
  • 24 Dec 2020
Topic Review
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome is a condition characterized by abnormal electrical pathways in the heart that cause a disruption of the heart's normal rhythm (arrhythmia).  
  • 465
  • 24 Dec 2020
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