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Topic Review
Acatalasemia
Acatalasemia is a condition characterized by very low levels of an enzyme called catalase. Many people with acatalasemia never have any health problems related to the condition and are diagnosed because they have affected family members.
  • 1.1K
  • 04 Feb 2021
Topic Review
SELENON Gene
selenoprotein N
  • 1.1K
  • 24 Dec 2020
Topic Review
ACE Gene
angiotensin I converting enzyme
  • 1.1K
  • 04 Feb 2021
Topic Review
POFUT1 Gene
protein O-fucosyltransferase 1
  • 1.1K
  • 25 Dec 2020
Topic Review
Fryns Syndrome
Fryns syndrome is a condition that affects the development of many parts of the body. The features of this disorder vary widely among affected individuals and overlap with the signs and symptoms of several other disorders. These factors can make Fryns syndrome difficult to diagnose.
  • 1.1K
  • 25 Dec 2020
Topic Review
SOD1 Gene
Superoxide dismutase 1
  • 1.1K
  • 04 Jan 2021
Topic Review
Chromosome 5
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 5, one copy inherited from each parent, form one of the pairs.
  • 1.1K
  • 24 Dec 2020
Topic Review
CBAS2
Congenital bile acid synthesis defect type 2 is a disorder characterized by cholestasis, a condition that impairs the production and release of a digestive fluid called bile from liver cells. Bile is used during digestion to absorb fats and fat-soluble vitamins, such as vitamins A, D, E, and K. People with congenital bile acid synthesis defect type 2 cannot produce (synthesize) bile acids, which are a component of bile that stimulate bile flow and help it absorb fats and fat-soluble vitamins. As a result, an abnormal form of bile is produced.
  • 1.1K
  • 04 Jan 2021
Topic Review
adCSNB
Autosomal dominant congenital stationary night blindness is a disorder of the retina, which is the specialized tissue at the back of the eye that detects light and color.
  • 1.1K
  • 04 Jan 2021
Topic Review
Rigid Spine Muscular Dystrophy
Rigid spine muscular dystrophy (RSMD) is a form of congenital muscular dystrophy. Disorders in this group cause muscle weakness and wasting (atrophy) beginning very early in life. In particular, RSMD involves weakness of the muscles of the torso and neck (axial muscles). Other characteristic features include spine stiffness and serious breathing problems
  • 1.1K
  • 24 Dec 2020
Topic Review
TK2 Gene
Thymidine kinase 2, mitochondrial: The TK2 gene provides instructions for making an enzyme called thymidine kinase 2 that functions within cell structures called mitochondria, which are found in all tissues.
  • 1.1K
  • 25 Dec 2020
Topic Review
Genetic Improvement of Drought Tolerance in Conifers
The constant rise in the global temperature and unpredictable shifts in precipitation patterns are two of the main effects of climate change. Conifers originated more than 300 million years ago and currently dominate many temperate and boreal forests.
  • 1.1K
  • 09 Dec 2022
Topic Review
MYD88 Gene
MYD88, innate immune signal transduction adaptor
  • 1.1K
  • 23 Dec 2020
Topic Review
Distal Myopathy 2
Distal myopathy 2 is a condition characterized by weakness of specific muscles that begins in adulthood. It is a form of muscular dystrophy that specifically involves muscles in the throat, lower legs, and forearms. Muscles farther from the center of the body, like the muscles of the lower legs and forearms, are known as distal muscles.
  • 1.1K
  • 24 Dec 2020
Topic Review
15q24 Microdeletion
15q24 microdeletion is a chromosomal change in which a small piece of chromosome 15 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated q24.
  • 1.1K
  • 26 Aug 2021
Topic Review
Chromosome 9
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 9, one copy inherited from each parent, form one of the pairs.
  • 1.1K
  • 24 Dec 2020
Topic Review
Engineered Durum Wheat Germplasm
Durum wheat (Triticum durum var. durum, 2n = 4x = 28, AB genomes) is a major staple crop in the Mediterranean Basin, where its cultivation largely replaced that of tetraploid emmer, T. dicoccum, by the first millennium B.C.
  • 1.1K
  • 29 Oct 2020
Topic Review
MC1R Gene
Melanocortin 1 receptor
  • 1.1K
  • 23 Dec 2020
Topic Review
Non-alcoholic Fatty Liver Disease
Non-alcoholic fatty liver disease (NAFLD) is a buildup of excessive fat in the liver that can lead to liver damage resembling the damage caused by alcohol abuse, but that occurs in people who do not drink heavily. The liver is a part of the digestive system that helps break down food, store energy, and remove waste products, including toxins. The liver normally contains some fat; an individual is considered to have a fatty liver (hepatic steatosis) if the liver contains more than 5 to 10 percent fat.
  • 1.1K
  • 04 Jan 2021
Topic Review
Retinitis Pigmentosa
Retinitis pigmentosa is a group of related eye disorders that cause progressive vision loss. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with retinitis pigmentosa, vision loss occurs as the light-sensing cells of the retina gradually deteriorate.
  • 1.1K
  • 04 Jan 2021
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