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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Mucopolysaccharidosis Type VI
Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome, is a progressive condition that causes many tissues and organs to enlarge and become inflamed or scarred. Skeletal abnormalities are also common in this condition. The rate at which symptoms worsen varies among affected individuals.
  • 318
  • 23 Dec 2020
Topic Review
KIT Gene
KIT proto-oncogene receptor tyrosine kinase
  • 1.1K
  • 23 Dec 2020
Topic Review
CUBN Gene
Cubilin: The CUBN gene provides instructions for making a protein called cubilin. 
  • 336
  • 23 Dec 2020
Topic Review
Mucopolysaccharidosis Type IV
Mucopolysaccharidosis type IV (MPS IV), also known as Morquio syndrome, is a progressive condition that mainly affects the skeleton. The rate at which symptoms worsen varies among affected individuals.
  • 374
  • 23 Dec 2020
Topic Review
Mucopolysaccharidosis Type III
Mucopolysaccharidosis type III (MPS III), also known as Sanfilippo syndrome, is a progressive disorder that primarily affects the brain and spinal cord (central nervous system). It is characterized by deterioration of neurological function (neurodegeneration), resulting in many of the features of the condition. Other body systems can also be involved, although the physical features are usually mild in the early stages.
  • 458
  • 23 Dec 2020
Topic Review
KIF21A Gene
Kinesin family member 21A
  • 324
  • 23 Dec 2020
Topic Review
UNC80 Deficiency
UNC80 deficiency is a severe disorder characterized by nervous system and developmental problems that are apparent from birth or early infancy. The disorder does not typically get worse over time; development of intellectual function and motor skills, such as rolling over and sitting, is slow and limited, but once skills are learned, they are usually retained.  
  • 543
  • 23 Dec 2020
Topic Review
CTSD Gene
Cathepsin D: The CTSD gene provides instructions for making an enzyme called cathepsin D.
  • 368
  • 23 Dec 2020
Topic Review
KIF1B Gene
Kinesin family member 1B
  • 357
  • 23 Dec 2020
Topic Review
Mucopolysaccharidosis Type II
Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a condition that affects many different parts of the body and occurs almost exclusively in males. It is a progressively debilitating disorder; however, the rate of progression varies among affected individuals.
  • 381
  • 23 Dec 2020
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