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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CLN7 Disease
CLN7 disease is an inherited disorder that primarily affects the nervous system. The signs and symptoms of this condition typically begin between ages 2 and 7. The initial features usually include recurrent seizures (epilepsy) and the loss of previously acquired skills (developmental regression). Affected children also develop muscle twitches (myoclonus), difficulty coordinating movements (ataxia), speech impairment, and vision loss. Mental functioning and motor skills (such as sitting and walking) decline with age. Individuals with CLN7 disease typically do not survive past their teens.
  • 376
  • 24 Dec 2020
Topic Review
CFH Gene
complement factor H
  • 375
  • 24 Dec 2020
Topic Review
CLN6 Disease
CLN6 disease is an inherited disorder that primarily affects the nervous system. The signs and symptoms of this condition typically begin between early and late childhood, but sometimes they can appear in adulthood.
  • 430
  • 24 Dec 2020
Topic Review
Winchester Syndrome
Winchester syndrome is a rare inherited disease characterized by a loss of bone tissue (osteolysis), particularly in the hands and feet.
  • 481
  • 24 Dec 2020
Topic Review
CEP57 Gene
centrosomal protein 57
  • 345
  • 24 Dec 2020
Topic Review
Cryptogenic Cirrhosis
Cryptogenic cirrhosis is a condition that impairs liver function. People with this condition develop irreversible liver disease caused by scarring of the liver (cirrhosis), typically in mid- to late adulthood.
  • 985
  • 24 Dec 2020
Topic Review
Wilson Disease
Wilson disease is an inherited disorder in which excessive amounts of copper accumulate in the body, particularly in the liver, brain, and eyes. The signs and symptoms of Wilson disease usually first appear between the ages of 6 and 45, but they most often begin during the teenage years. The features of this condition include a combination of liver disease and neurological and psychiatric problems.
  • 498
  • 24 Dec 2020
Topic Review
CEP290 Gene
centrosomal protein 290
  • 331
  • 24 Dec 2020
Topic Review
Crouzon Syndrome with Acanthosis Nigricans
Crouzon syndrome with acanthosis nigricans is a disorder characterized by the premature joining of certain bones of the skull (craniosynostosis) during development and a skin condition called acanthosis nigricans.mas.
  • 521
  • 24 Dec 2020
Topic Review
CLN5 Disease
CLN5 disease is an inherited disorder that primarily affects the nervous system. The signs and symptoms of this condition can begin anytime between childhood and early adulthood, but they typically appear around age 5. Children with CLN5 disease often have normal development until they experience the first signs of the condition, which are usually problems with movement and a loss of previously acquired motor skills (developmental regression). Other features of the condition include recurrent seizures that involve uncontrollable muscle jerks (myoclonic epilepsy), difficulty coordinating movements (ataxia), vision loss, and a decline in intellectual function. The life expectancy of people with CLN5 disease varies; affected individuals usually survive into adolescence or mid-adulthood.
  • 393
  • 07 Mar 2021
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