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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5q31.3 Microdeletion Syndrome
5q31.3 microdeletion syndrome is a condition characterized by severely delayed development of speech and motor skills, such as walking. Beginning in infancy, affected individuals also have weak muscle tone (hypotonia), feeding difficulties, and breathing problems. Breathing problems and difficulty swallowing (dysphagia) can be life-threatening.
  • 548
  • 23 Dec 2020
Topic Review
Infantile-Onset Ascending Hereditary Spastic Paralysis
Infantile-onset ascending hereditary spastic paralysis is one of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and eventual paralysis of the lower limbs (paraplegia).
  • 436
  • 23 Dec 2020
Topic Review
Mitochondrial Complex V Deficiency
Mitochondrial complex V deficiency is a shortage (deficiency) of a protein complex called complex V or a loss of its function. Complex V is found in cell structures called mitochondria, which convert the energy from food into a form that cells can use. Complex V is the last of five mitochondrial complexes that carry out a multistep process called oxidative phosphorylation, through which cells derive much of their energy.
  • 708
  • 23 Dec 2020
Topic Review
Infantile-Onset Spinocerebellar Ataxia
Infantile-onset spinocerebellar ataxia (IOSCA) is a progressive disorder that affects the nervous system.
  • 362
  • 23 Dec 2020
Topic Review
Inherited Thyroxine-Binding Globulin Deficiency
Inherited thyroxine-binding globulin deficiency is a genetic condition that typically does not cause any health problems. Thyroxine-binding globulin is a protein that carries hormones made or used by the thyroid gland, which is a butterfly-shaped tissue in the lower neck.
  • 379
  • 23 Dec 2020
Topic Review
5-alpha Reductase Deficiency
5-alpha reductase deficiency is a condition that affects male sexual development before birth and during puberty. People with this condition are genetically male, with one X and one Y chromosome in each cell, and they have male gonads (testes). Their bodies, however, do not produce enough of a hormone called dihydrotestosterone (DHT). DHT has a critical role in male sexual development, and a shortage of this hormone disrupts the formation of the external sex organs before birth.
  • 579
  • 23 Dec 2020
Topic Review
Intestinal Pseudo-Obstruction
Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract.
  • 411
  • 23 Dec 2020
Topic Review
Mitochondrial Complex III Deficiency
Mitochondrial complex III deficiency is a genetic condition that can affect several parts of the body, including the brain, kidneys, liver, heart, and the muscles used for movement (skeletal muscles). Signs and symptoms of mitochondrial complex III deficiency usually begin in infancy but can appear later.
  • 411
  • 23 Dec 2020
Topic Review
Intrahepatic Cholestasis of Pregnancy
Intrahepatic cholestasis of pregnancy is a liver disorder that occurs in pregnant women.
  • 323
  • 23 Dec 2020
Topic Review
49,XXXXY Syndrome
49,XXXXY syndrome is a chromosomal condition in boys and men that causes intellectual disability, developmental delays, physical differences, and an inability to father biological children (infertility). Its signs and symptoms vary among affected individuals.
  • 3.5K
  • 23 Dec 2020
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