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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Wilms Tumor
Wilms tumor is a form of kidney cancer that primarily develops in children. Nearly all cases of Wilms tumor are diagnosed before the age of 10, with two-thirds being found before age 5.  
  • 534
  • 24 Dec 2020
Topic Review
CEBPA Gene
CCAAT enhancer binding protein alpha
  • 421
  • 24 Dec 2020
Topic Review
Crouzon Syndrome
Crouzon syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.
  • 457
  • 24 Dec 2020
Topic Review
Williams Syndrome
Williams syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems.  
  • 552
  • 24 Dec 2020
Topic Review
Crohn Disease
Crohn disease is a complex, long-lasting (chronic) disorder that primarily affects the digestive system. This condition involves an abnormal immune response that causes excess inflammation. It most often affects the intestinal walls, particularly in the lower part of the small intestine (the ileum) and portions of the large intestine (the colon). However, inflammation can occur in any part of the digestive system, from the mouth to the anus. The inflamed tissues become thick and swollen, and the inner surfaces of the digestive system may develop open sores (ulcers).
  • 421
  • 24 Dec 2020
Topic Review
CLN4 Disease
CLN4 disease is a condition that primarily affects the nervous system, causing problems with movement and intellectual function that worsen over time. The signs and symptoms of CLN4 disease typically appear around age 30, but they can develop anytime between adolescence and late adulthood.
  • 421
  • 24 Dec 2020
Topic Review
CDKN2A Gene
cyclin dependent kinase inhibitor 2A
  • 474
  • 24 Dec 2020
Topic Review
CLN3 Disease
CLN3 disease is an inherited disorder that primarily affects the nervous system. After 4 to 6 years of normal development, children with this condition develop vision impairment, intellectual disability, movement problems, speech difficulties, and seizures, which worsen over time.
  • 368
  • 24 Dec 2020
Topic Review
Critical Congenital Heart Disease
Critical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. CCHD prevents the heart from pumping blood effectively or reduces the amount of oxygen in the blood. As a result, organs and tissues throughout the body do not receive enough oxygen, which can lead to organ damage and life-threatening complications. Individuals with CCHD usually require surgery soon after birth.
  • 412
  • 24 Dec 2020
Topic Review
CDKN1C Gene
cyclin dependent kinase inhibitor 1C
  • 331
  • 24 Dec 2020
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