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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Mutations and Health
A gene mutation is a permanent alteration in the DNA sequence that makes up a gene, such that the sequence differs from what is found in most people.  By changing a gene's instructions for making a protein, a mutation can cause the protein to malfunction or to be missing entirely. When a mutation alters a protein that plays a critical role in the body, it can disrupt normal development or cause a medical condition.
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  • 24 Dec 2020
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Dandy-Walker Malformation
Dandy-Walker malformation affects brain development, primarily development of the cerebellum, which is the part of the brain that coordinates movement. In individuals with this condition, various parts of the cerebellum develop abnormally, resulting in malformations that can be observed with medical imaging. The central part of the cerebellum (the vermis) is absent or very small and may be abnormally positioned. The right and left sides of the cerebellum may be small as well. In affected individuals, a fluid-filled cavity between the brainstem and the cerebellum (the fourth ventricle) and the part of the skull that contains the cerebellum and the brainstem (the posterior fossa) are abnormally large. These abnormalities often result in problems with movement, coordination, intellect, mood, and other neurological functions.
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COMP Gene
cartilage oligomeric matrix protein
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SERPINC1 Gene
serpin family C member 1
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ZAP70-related Severe Combined Immunodeficiency
ZAP70-related severe combined immunodeficiency (SCID) is an inherited disorder that damages the immune system.
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DOORS Syndrome
DOORS syndrome is a disorder involving multiple abnormalities that are present from birth (congenital). "DOORS" is an abbreviation for the major features of the disorder including deafness; short or absent nails (onychodystrophy); short fingers and toes (osteodystrophy); developmental delay and intellectual disability (previously called mental retardation); and seizures. Some people with DOORS syndrome do not have all of these features.
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  • 24 Dec 2020
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EDA Gene
Ectodysplasin A: The EDA gene provides instructions for making a protein called ectodysplasin A. 
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  • 24 Dec 2020
Topic Review
Yuan-Harel-Lupski Syndrome
Yuan-Harel-Lupski (YUHAL) syndrome is a rare neurological condition that has a combination of features of two other disorders, Potocki-Lupski syndrome and type 1A Charcot-Marie-Tooth disease.  
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  • 24 Dec 2020
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Periventricular Heterotopia
Periventricular heterotopia is a condition in which nerve cells (neurons) do not migrate properly during the early development of the fetal brain, from about the 6th week to the 24th week of pregnancy.
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  • 24 Dec 2020
Topic Review
COL8A2 Gene
collagen type VIII alpha 2 chain
  • 376
  • 24 Dec 2020
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