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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KAT6B Gene
Lysine acetyltransferase 6B
  • 372
  • 23 Dec 2020
Topic Review
Mosaic Variegated Aneuploidy Syndrome
Mosaic variegated aneuploidy (MVA) syndrome is a rare disorder in which some cells in the body have an abnormal number of chromosomes instead of the usual 46 chromosomes, a situation known as aneuploidy. Most commonly, cells have an extra chromosome, which is called trisomy, or are missing a chromosome, which is known as monosomy. In MVA syndrome, some cells are aneuploid and others have the normal number of chromosomes, which is a phenomenon known as mosaicism. Typically, at least one-quarter of cells in affected individuals have an abnormal number of chromosomes. Because the additional or missing chromosomes vary among the abnormal cells, the aneuploidy is described as variegated.
  • 467
  • 23 Dec 2020
Topic Review
Trichorhinophalangeal Syndrome Type II
Trichorhinophalangeal syndrome type II (TRPS II) is a condition that causes bone and joint malformations; distinctive facial features; intellectual disability; and abnormalities of the skin, hair, teeth, sweat glands, and nails. The name of the condition describes some of the areas of the body that are commonly affected: hair (tricho-), nose (rhino-), and fingers and toes (phalangeal).  
  • 386
  • 23 Dec 2020
Topic Review
Trichorhinophalangeal Syndrome Type I
Trichorhinophalangeal syndrome type I (TRPS I) is a condition that causes bone and joint malformations; distinctive facial features; and abnormalities of the skin, hair, teeth, sweat glands, and nails.
  • 448
  • 23 Dec 2020
Topic Review
KANK2 Gene
KN motif and ankyrin repeat domains 2
  • 341
  • 23 Dec 2020
Topic Review
9q22.3 Microdeletion
9q22.3 microdeletion is a chromosomal change in which a small piece of chromosome 9 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome in a region designated q22.3. This chromosomal change is associated with delayed development, intellectual disability, certain physical abnormalities, and the characteristic features of a genetic condition called Gorlin syndrome.
  • 623
  • 23 Dec 2020
Topic Review
Monoamine Oxidase A Deficiency
Monoamine oxidase A deficiency is a rare disorder that occurs almost exclusively in males. It is characterized by mild intellectual disability and behavioral problems beginning in early childhood.
  • 797
  • 23 Dec 2020
Topic Review
JUP Gene
Junction plakoglobin
  • 402
  • 23 Dec 2020
Topic Review
Trichohepatoenteric Syndrome
Trichohepatoenteric syndrome is a condition that affects the hair (tricho-), liver (hepato-), and intestines (enteric), as well as other tissues and organs in the body.
  • 381
  • 23 Dec 2020
Topic Review
Monilethrix
Monilethrix is a condition that affects hair growth. Its most characteristic feature is that individual strands of hair have a beaded appearance like the beads of a necklace. The name monilethrix comes from the Latin word for necklace (monile) and the Greek word for hair (thrix). Noticeable when viewed under a microscope, the beaded appearance is due to periodic narrowing of the hair shaft. People with monilethrix also have sparse hair growth (hypotrichosis) and short, brittle hair that breaks easily.
  • 331
  • 23 Dec 2020
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