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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Leigh Syndrome
Leigh syndrome is a severe neurological disorder that usually becomes apparent in the first year of life.
  • 581
  • 23 Dec 2020
Topic Review
PTPN11 Gene
protein tyrosine phosphatase, non-receptor type 11
  • 354
  • 23 Dec 2020
Topic Review
Legius Syndrome
Legius syndrome is a condition characterized by changes in skin coloring (pigmentation).
  • 466
  • 23 Dec 2020
Topic Review
Netherton Syndrome
Netherton syndrome is a disorder that affects the skin, hair, and immune system. Newborns with Netherton syndrome have skin that is red and scaly (ichthyosiform erythroderma), and the skin may leak fluid. Some affected infants are born with a tight, clear sheath covering their skin called a collodion membrane.
  • 332
  • 23 Dec 2020
Topic Review
Legg-Calvé-Perthes Disease
Legg-Calvé-Perthes disease is a bone disorder that affects the hips. Usually, only one hip is involved, but in about 10 percent of cases, both hips are affected. Legg-Calvé-Perthes disease begins in childhood, typically between ages 4 and 8, and affects boys more frequently than girls.
  • 335
  • 23 Dec 2020
Topic Review
Nephronophthisis
Nephronophthisis is a disorder that affects the kidneys. It is characterized by inflammation and scarring (fibrosis) that impairs kidney function. These abnormalities lead to increased urine production (polyuria), excessive thirst (polydipsia), general weakness, and extreme tiredness (fatigue). In addition, affected individuals develop fluid-filled cysts in the kidneys, usually in an area known as the corticomedullary region. Another feature of nephronophthisis is a shortage of red blood cells, a condition known as anemia.
  • 426
  • 23 Dec 2020
Topic Review
PTEN Gene
phosphatase and tensin homolog
  • 393
  • 23 Dec 2020
Topic Review
Nephrogenic Diabetes Insipidus
Nephrogenic diabetes insipidus is a disorder of water balance. The body normally balances fluid intake with the excretion of fluid in urine. However, people with nephrogenic diabetes insipidus produce too much urine (polyuria), which causes them to be excessively thirsty (polydipsia). Affected individuals can quickly become dehydrated if they do not drink enough water, especially in hot weather or when they are sick.
  • 498
  • 23 Dec 2020
Topic Review
Wiedemann-Rautenstrauch Syndrome
Wiedemann-Rautenstrauch syndrome is a type of progeria, which is a group of genetic conditions characterized by the dramatic, rapid appearance of aging earlier in life than expected.
  • 409
  • 23 Dec 2020
Topic Review
Neonatal Onset Multisystem Inflammatory Disease
Neonatal onset multisystem inflammatory disease (NOMID) is a disorder that causes persistent inflammation and tissue damage primarily affecting the nervous system, skin, and joints. Recurrent episodes of mild fever may also occur in this disorder.
  • 360
  • 23 Dec 2020
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