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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Spastic Paraplegia Type 5A
Spastic paraplegia type 5A is one of a group of genetic disorders known as hereditary spastic paraplegias.
  • 829
  • 23 Dec 2020
Topic Review
Spastic Paraplegia Type 49
Spastic paraplegia type 49 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 only the lower limbs, whereas the complex types also involve the upper limbs (to a lesser degree) and other problems with the nervous system. Spastic paraplegia type 49 is a complex hereditary spastic paraplegia.  
  • 375
  • 23 Dec 2020
Topic Review
Spastic Paraplegia Type 4
Spastic paraplegia type 4 (also known as SPG4) is the most common of a group of genetic disorders known as hereditary spastic paraplegias.
  • 413
  • 23 Dec 2020
Topic Review
Marfan Syndrome
Marfan syndrome is a disorder that affects the connective tissue in many parts of the body. Connective tissue provides strength and flexibility to structures such as bones, ligaments, muscles, blood vessels, and heart valves. The signs and symptoms of Marfan syndrome vary widely in severity, timing of onset, and rate of progression.
  • 491
  • 23 Dec 2020
Topic Review
Spastic Paraplegia Type 3A
Spastic paraplegia type 3A is one of a group of genetic disorders known as hereditary spastic paraplegias.
  • 514
  • 23 Dec 2020
Topic Review
MMACHC Gene
metabolism of cobalamin associated C
  • 444
  • 22 Dec 2020
Topic Review
Mannose-Binding Lectin Deficiency
Mannose-binding lectin deficiency is a condition that affects the immune system. People with this condition have low levels (deficiency) of an immune system protein called mannose-binding lectin in their blood. Whether this deficiency makes affected individuals prone to recurrent infections is not clear.
  • 580
  • 23 Dec 2020
Topic Review
MMAA Gene
metabolism of cobalamin associated A
  • 541
  • 22 Dec 2020
Topic Review
Manitoba Oculotrichoanal Syndrome
Manitoba oculotrichoanal syndrome is a condition involving several characteristic physical features, particularly affecting the eyes (oculo-), hair (tricho-), and anus (-anal).
  • 480
  • 23 Dec 2020
Topic Review
MLYCD Gene
malonyl-CoA decarboxylase
  • 314
  • 22 Dec 2020
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