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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Keratoderma with Woolly Hair
Keratoderma with woolly hair is a group of related conditions that affect the skin and hair and in many cases increase the risk of potentially life-threatening heart problems.
  • 423
  • 23 Dec 2020
Topic Review
Kidney Stones
Kidney stones (also called renal stones or urinary stones) are small, hard deposits that form in one or both kidneys; the stones are made up of minerals or other compounds found in urine. Kidney stones vary in size, shape, and color.
  • 514
  • 23 Dec 2020
Topic Review
Waldenström macroglobulinemia
Waldenström macroglobulinemia is a rare blood cell cancer characterized by an excess of abnormal white blood cells called lymphoplasmacytic cells in the bone marrow. This condition is classified as a lymphoplasmacytic lymphoma. The abnormal cells have characteristics of both white blood cells (lymphocytes) called B cells and of more mature cells derived from B cells known as plasma cells. These abnormal cells produce excess amounts of IgM, a type of protein known as an immunoglobulin; the overproduction of this large protein is how the condition got its name ("macroglobulinemia").  
  • 398
  • 23 Dec 2020
Topic Review
Kindler Syndrome
Kindler syndrome is a rare type of epidermolysis bullosa, which is a group of genetic conditions that cause the skin to be very fragile and to blister easily.
  • 501
  • 23 Dec 2020
Topic Review
Mycosis Fungoides
Mycosis fungoides is the most common 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. Although the skin is involved, the skin cells themselves are not cancerous. Mycosis fungoides usually occurs in adults over age 50, although affected children have been identified.
  • 467
  • 23 Dec 2020
Topic Review
LGI1 Gene
Leucine rich glioma inactivated 1
  • 364
  • 23 Dec 2020
Topic Review
Waardenburg Syndrome
Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes.
  • 684
  • 23 Dec 2020
Topic Review
Kleefstra Syndrome
Kleefstra syndrome is a disorder that involves many parts of the body. Characteristic features of Kleefstra syndrome include developmental delay and intellectual disability, severely limited or absent speech, and weak muscle tone (hypotonia).
  • 570
  • 23 Dec 2020
Topic Review
Acromicric Dysplasia
Acromicric dysplasia is a condition characterized by severely short stature, short limbs, stiff joints, and distinctive facial features.
  • 459
  • 23 Dec 2020
Topic Review
Klinefelter Syndrome
Klinefelter syndrome is a chromosomal condition in boys and men that can affect physical and intellectual development.
  • 630
  • 23 Dec 2020
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