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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1q21.1 Microdeletion
1q21.1 microdeletion is a chromosomal change in which a small piece of chromosome 1 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome in a region designated q21.1. This chromosomal change increases the risk of delayed development, intellectual disability, physical abnormalities, and neurological and psychiatric problems. However, some people with a 1q21.1 microdeletion do not appear to have any associated features.
  • 763
  • 23 Dec 2020
Topic Review
GRN-Related Frontotemporal Lobar Degeneration
GRN-related frontotemporal lobar degeneration is a progressive brain disorder that can affect behavior, language, and movement.
  • 438
  • 23 Dec 2020
Topic Review
Sézary Syndrome
Sézary syndrome is an aggressive form of a type of blood cancer called cutaneous T-cell lymphoma. Cutaneous T-cell lymphomas occur when certain white blood cells, called T cells, become cancerous; these cancers characteristically affect the skin, causing different types of skin lesions. In Sézary syndrome, the cancerous T cells, called Sézary cells, are present in the blood, skin, and lymph nodes. A characteristic of Sézary cells is an abnormally shaped nucleus, described as cerebriform.  
  • 373
  • 23 Dec 2020
Topic Review
Systemic Scleroderma
Systemic scleroderma is an autoimmune disorder that affects the skin and internal organs. Autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. The word "scleroderma" means hard skin in Greek, and the condition is characterized by the buildup of scar tissue (fibrosis) in the skin and other organs. The condition is also called systemic sclerosis because the fibrosis can affect organs other than the skin. Fibrosis is due to the excess production of a tough protein called collagen, which normally strengthens and supports connective tissues throughout the body.  
  • 405
  • 23 Dec 2020
Topic Review
MT-ND5 Gene
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5
  • 764
  • 23 Dec 2020
Topic Review
1p36 Deletion Syndrome
1p36 deletion syndrome is a disorder that typically causes severe intellectual disability. Most affected individuals do not speak, or speak only a few words. They may have temper tantrums, bite themselves, or exhibit other behavior problems. Most have structural abnormalities of the brain, and seizures occur in more than half of individuals with this disorder. Affected individuals usually have weak muscle tone (hypotonia) and swallowing difficulties (dysphagia).
  • 706
  • 25 Dec 2020
Topic Review
GRIN2B-Related Neurodevelopmental Disorder
GRIN2B-related neurodevelopmental disorder is a condition that affects the nervous system.
  • 633
  • 23 Dec 2020
Topic Review
MT-ND4L Gene
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L
  • 357
  • 23 Dec 2020
Topic Review
Systemic Mastocytosis
Systemic mastocytosis is a blood disorder that can affect many different body systems. Individuals with the condition can develop signs and symptoms at any age, but it usually appears after adolescence.  
  • 402
  • 23 Dec 2020
Topic Review
GRACILE Syndrome
GRACILE syndrome is a severe disorder that begins before birth. GRACILE stands for the condition's characteristic features: growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis, and early death.
  • 482
  • 23 Dec 2020
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