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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TSEN34 Gene
tRNA splicing endonuclease subunit 34
  • 326
  • 22 Dec 2020
Topic Review
Spondylocarpotarsal Synostosis Syndrome
Spondylocarpotarsal synostosis syndrome is a disorder that affects the development of bones throughout the body. Newborns with this disorder are of approximately normal length, but impaired growth of the torso results in short stature over time. The bones of the spine (vertebrae) are misshapen and abnormally joined together (fused). The vertebral abnormalities may result in an abnormally curved lower back (lordosis) and a spine that curves to the side (scoliosis).  
  • 406
  • 23 Dec 2020
Topic Review
HESX1 Gene
HESX homeobox 1
  • 334
  • 22 Dec 2020
Topic Review
STAC3 Gene
SH3 and cysteine rich domain 3: The STAC3 gene provides instructions for making a protein whose function is not completely understood.
  • 444
  • 22 Dec 2020
Topic Review
Spinocerebellar Ataxia Type 6
Spinocerebellar ataxia type 6 (SCA6) is a condition characterized by progressive problems with movement.
  • 464
  • 23 Dec 2020
Topic Review
Meier-Gorlin Syndrome
Meier-Gorlin syndrome is a condition primarily characterized by short stature.
  • 514
  • 23 Dec 2020
Topic Review
HDAC8 Gene
Histone deacetylase 8
  • 403
  • 22 Dec 2020
Topic Review
Spinocerebellar Ataxia Type 36
Spinocerebellar ataxia type 36 (SCA36) is a condition characterized by progressive problems with movement that typically begin in mid-adulthood. People with this condition initially experience problems with coordination and balance (ataxia). Affected individuals often have exaggerated reflexes (hyperreflexia) and problems with speech (dysarthria). They also usually develop muscle twitches (fasciculations) of the tongue and over time, the muscles in the tongue waste away (atrophy). These tongue problems can cause difficulties swallowing liquids. As the condition progresses, individuals with SCA36 develop muscle atrophy in the legs, forearms, and hands. Another common feature of SCA36 is the atrophy of specialized nerve cells that control muscle movement (motor neurons), which can contribute to the tongue and limb muscle atrophy in affected individuals.  
  • 427
  • 23 Dec 2020
Topic Review
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome is a rare disorder that primarily affects the development of the brain.
  • 773
  • 23 Dec 2020
Topic Review
Spinocerebellar Ataxia Type 3
Spinocerebellar ataxia type 3 (SCA3) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other early signs and symptoms of SCA3 include speech difficulties, uncontrolled muscle tensing (dystonia), muscle stiffness (spasticity), rigidity, tremors, bulging eyes, and double vision. People with this condition may experience sleep disorders such as restless leg syndrome or REM sleep behavior disorder. Restless leg syndrome is a condition characterized by numbness or tingling in the legs accompanied by an urge to move the legs to stop the sensations. REM sleep behavior disorder is a condition in which the muscles are active during the dream (REM) stage of sleep, so an affected person often acts out his or her dreams. These sleep disorders tend to leave affected individuals feeling tired during the day.  
  • 603
  • 23 Dec 2020
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