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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Pseudohypoaldosteronism Type 1
Pseudohypoaldosteronism type 1 (PHA1) is a condition characterized by problems regulating the amount of sodium in the body.
  • 419
  • 24 Dec 2020
Topic Review
WNT5A Gene
Wnt family member 5A: The WNT5A gene is part of a large family of WNT genes, which play critical roles in development starting before birth. These genes provide instructions for making proteins that participate in chemical signaling pathways in the body.
  • 408
  • 24 Dec 2020
Topic Review
WNT4 Gene
Wnt family member 4: The WNT4 gene belongs to a family of WNT genes that play critical roles in development before birth. WNT genes provide instructions for making proteins that participate in chemical signaling pathways in the body. These pathways control the activity of certain genes and regulate the interactions between cells during embryonic development.
  • 438
  • 24 Dec 2020
Topic Review
Nonsyndromic Aplasia Cutis Congenita
Nonsyndromic aplasia cutis congenita is a condition in which babies are born with localized areas of missing skin (lesions). These areas resemble ulcers or open wounds, although they are sometimes already healed at birth. Lesions most commonly occur on the top of the head (skull vertex), although they can be found on the torso or limbs. In some cases, the bone and other tissues under the skin defect are also underdeveloped.
  • 368
  • 24 Dec 2020
Topic Review
Cerebral Cavernous Malformation
Cerebral cavernous malformations are collections of small blood vessels (capillaries) in the brain that are enlarged and irregular in structure. These capillaries have abnormally thin walls, and they lack other support tissues, such as elastic fibers, which normally make them stretchy. As a result, the blood vessels are prone to leakage, which can cause the health problems related to this condition. Cavernous malformations can occur anywhere in the body, but usually produce serious signs and symptoms only when they occur in the brain and spinal cord (which are described as cerebral).
  • 336
  • 24 Dec 2020
Topic Review
Nonketotic Hyperglycinemia
Nonketotic hyperglycinemia is a disorder characterized by abnormally high levels of a molecule called glycine in the body (hyperglycinemia). The excess glycine builds up in tissues and organs, particularly the brain. Affected individuals have serious neurological problems.
  • 363
  • 24 Dec 2020
Topic Review
Nonbullous Congenital Ichthyosiform Erythroderma
Nonbullous congenital ichthyosiform erythroderma (NBCIE) is a condition that mainly affects the skin.
  • 415
  • 24 Dec 2020
Topic Review
Pseudoachondroplasia
Pseudoachondroplasia is an inherited disorder of bone growth.
  • 521
  • 24 Dec 2020
Topic Review
Nijmegen Breakage Syndrome
Nijmegen breakage syndrome is a condition characterized by short stature, an unusually small head size (microcephaly), distinctive facial features, recurrent respiratory tract infections, an increased risk of cancer, intellectual disability, and other health problems.
  • 498
  • 24 Dec 2020
Topic Review
Centronuclear Myopathy
Centronuclear myopathy is a condition characterized by muscle weakness (myopathy) and wasting (atrophy) in the skeletal muscles, which are the muscles used for movement. The severity of centronuclear myopathy varies among affected individuals, even among members of the same family.
  • 398
  • 24 Dec 2020
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