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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MFN2 Gene
mitofusin 2
  • 294
  • 22 Dec 2020
Topic Review
Fumarase Deficiency
Fumarase deficiency is a condition that primarily affects the nervous system, especially the brain.
  • 471
  • 24 Dec 2020
Topic Review
SRD5A2 Gene
Steroid 5 alpha-reductase 2: The SRD5A2 gene provides instructions for making an enzyme called steroid 5-alpha reductase 2. 
  • 419
  • 22 Dec 2020
Topic Review
Spastic Paraplegia Type 15
Spastic paraplegia type 15 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Spastic paraplegia type 15 is classified as a complex hereditary spastic paraplegia because it involves all four limbs as well as additional features, including abnormalities of the brain. In addition to the muscles and brain, spastic paraplegia type 15 affects the peripheral nervous system, which consists of nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound.  
  • 382
  • 23 Dec 2020
Topic Review
MESP2 Gene
mesoderm posterior bHLH transcription factor 2
  • 401
  • 22 Dec 2020
Topic Review
Spastic Paraplegia Type 11
Spastic paraplegia type 11 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. The pure types involve the lower limbs. The complex types involve the lower limbs and can affect the upper limbs to a lesser degree. Complex spastic paraplegias also affect the structure or functioning of the brain and the peripheral nervous system, which consists of nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound. Spastic paraplegia type 11 is a complex hereditary spastic paraplegia.  
  • 637
  • 23 Dec 2020
Topic Review
Sotos Syndrome
Sotos syndrome is a disorder characterized by a distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development of mental and movement abilities. Characteristic facial features include a long, narrow face; a high forehead; flushed (reddened) cheeks; and a small, pointed chin. In addition, the outside corners of the eyes may point downward (down-slanting palpebral fissures). This facial appearance is most notable in early childhood. Affected infants and children tend to grow quickly; they are significantly taller than their siblings and peers and have an unusually large head. However, adult height is usually in the normal range.
  • 424
  • 23 Dec 2020
Topic Review
MEN1 Gene
menin 1
  • 320
  • 22 Dec 2020
Topic Review
GLI3 Gene
GLI family zinc finger 3
  • 347
  • 23 Dec 2020
Topic Review
Snyder-Robinson Syndrome
Snyder-Robinson syndrome is a condition characterized by intellectual disability, muscle and bone abnormalities, and other problems with development. It occurs exclusively in males.
  • 634
  • 23 Dec 2020
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