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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Task-specific Focal Dystonia
Task-specific focal dystonia is a movement disorder that interferes with the performance of particular tasks, such as writing, playing a musical instrument, or participating in a sport. Dystonias are a group of movement problems characterized by involuntary, sustained muscle contractions, tremors, and other uncontrolled movements. The term "focal" refers to a type of dystonia that affects a single part of the body, such as the hand or jaw.  
  • 525
  • 23 Dec 2020
Topic Review
MT-TS1 Gene
mitochondrially encoded tRNA serine 1 (UCN)
  • 470
  • 23 Dec 2020
Topic Review
Tarsal-carpal Coalition Syndrome
Tarsal-carpal coalition syndrome is a rare, inherited bone disorder that affects primarily the hands and feet.
  • 497
  • 23 Dec 2020
Topic Review
Geleophysic Dysplasia
Geleophysic dysplasia is an inherited condition that affects many parts of the body. It is characterized by abnormalities involving the bones, joints, heart, and skin.
  • 516
  • 23 Dec 2020
Topic Review
MT-TL1 Gene
mitochondrially encoded tRNA leucine 1 (UUA/G)
  • 424
  • 23 Dec 2020
Topic Review
Tangier Disease
Tangier disease is an inherited disorder characterized by significantly reduced levels of high-density lipoprotein (HDL) in the blood.
  • 516
  • 23 Dec 2020
Topic Review
Gaucher Disease
Gaucher disease is an inherited disorder that affects many of the body's organs and tissues
  • 345
  • 23 Dec 2020
Topic Review
MT-TK Gene
mitochondrially encoded tRNA lysine
  • 424
  • 23 Dec 2020
Topic Review
TUBB4A-related Leukodystrophy
TUBB4A-related leukodystrophy is a disorder that affects the nervous system. Leukodystrophies are conditions that involve abnormalities of the nervous system's white matter, which consists of nerve fibers covered by a fatty substance called myelin. Myelin insulates nerve fibers and promotes the rapid transmission of nerve impulses. In particular, TUBB4A-related leukodystrophy involves hypomyelination, which means that the nervous system has a reduced ability to form myelin. In some affected individuals, myelin may also break down, which is known as demyelination.  
  • 492
  • 23 Dec 2020
Topic Review
TRNT1 Deficiency
TRNT1 deficiency is a condition that affects many body systems. Its signs and symptoms can involve blood cells, the immune system, the eyes, and the nervous system. The severity of the signs and symptoms vary widely.  
  • 830
  • 23 Dec 2020
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