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Topic Review
Genomics Biomarkers for Type 2 Diabetes
Type 2 diabetes (T2D) is a deficiency in how the body regulates glucose. Uncontrolled T2D will result in chronic high blood sugar levels, eventually resulting in T2D complications. These complications, such as kidney, eye, and nerve damage, are even harder to treat.
  • 785
  • 29 Mar 2022
Topic Review
PROK2 Gene
prokineticin 2
  • 784
  • 22 Dec 2020
Topic Review
8p11 Myeloproliferative Syndrome
8p11 myeloproliferative syndrome is a blood cancer that involves different types of blood cells. Blood cells are divided into several groups (lineages) based on the type of early cell from which they are descended. Two of these lineages are myeloid cells and lymphoid cells. Individuals with 8p11 myeloproliferative syndrome can develop both myeloid cell cancer and lymphoid cell cancer.
  • 784
  • 23 Dec 2020
Topic Review
Caudal Regression Syndrome
Caudal regression syndrome is a disorder that impairs the development of the lower (caudal) half of the body. Affected areas can include the lower back and limbs, the genitourinary tract, and the gastrointestinal tract.
  • 784
  • 24 Dec 2020
Topic Review
Adiposis Dolorosa
Adiposis dolorosa is a condition characterized by painful folds of fatty (adipose) tissue or the growth of multiple noncancerous (benign) fatty tumors called lipomas. This condition occurs most often in women who are overweight or obese, and signs and symptoms typically appear between ages 35 and 50.  
  • 784
  • 24 Dec 2020
Topic Review
Buschke-Ollendorff Syndrome
Buschke-Ollendorff syndrome is a hereditary disorder that primarily affects the skin and bones. Specifically, the condition is characterized by skin growths called connective tissue nevi and bone abnormalities, most commonly a pattern of increased bone density called osteopoikilosis. Buschke-Ollendorff syndrome is classified as a disorder of connective tissues, which provide support, strength, and flexibility to organs and tissues throughout the body.
  • 784
  • 24 Dec 2020
Topic Review
Propionic Acidemia
Propionic acidemia is an inherited disorder in which the body is unable to process certain parts of proteins and lipids (fats) properly. It is classified as an organic acid disorder, which is a condition that leads to an abnormal buildup of particular acids known as organic acids. Abnormal levels of organic acids in the blood (organic acidemia), urine (organic aciduria), and tissues can be toxic and can cause serious health problems.
  • 784
  • 24 Dec 2020
Topic Review
Glycogen Storage Disease Type I
Glycogen storage disease type I (also known as GSDI or von Gierke disease) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially the liver, kidneys, and small intestines, impairs their ability to function normally.
  • 784
  • 23 Dec 2020
Topic Review
Imerslund-Gräsbeck Syndrome
Imerslund-Gräsbeck syndrome is a condition caused by low levels of vitamin B12 (also known as cobalamin).
  • 783
  • 23 Dec 2020
Topic Review
Type A Insulin Resistance Syndrome
Type A insulin resistance syndrome is a rare disorder characterized by severe insulin resistance, a condition in which the body's tissues and organs do not respond properly to the hormone insulin.
  • 783
  • 23 Dec 2020
Topic Review
Phosphoglycerate Kinase Deficiency
Phosphoglycerate kinase deficiency is a genetic disorder that affects the body's ability to break down the simple sugar glucose, which is the primary energy source for most cells. Researchers have described two major forms of the condition.
  • 783
  • 24 Dec 2020
Topic Review
F13B Gene
Coagulation factor XIII B chain
  • 783
  • 24 Dec 2020
Topic Review
FAT4 Gene
FAT atypical cadherin 4
  • 783
  • 25 Dec 2020
Topic Review
PLAGL1 Gene
PLAG1 like zinc finger 1
  • 783
  • 25 Dec 2020
Topic Review
IDH2 Gene
Isocitrate dehydrogenase (NADP(+)) 2, mitochondrial
  • 782
  • 23 Dec 2020
Topic Review
BUB1B Gene
BUB1 mitotic checkpoint serine/threonine kinase B
  • 782
  • 24 Dec 2020
Topic Review
Caffey Disease
Caffey disease, also called infantile cortical hyperostosis, is a bone disorder that most often occurs in babies. Excessive new bone formation (hyperostosis) is characteristic of Caffey disease. The bone abnormalities mainly affect the jawbone, shoulder blades (scapulae), collarbones (clavicles), and the shafts (diaphyses) of long bones in the arms and legs. Affected bones may double or triple in width, which can be seen by x-ray imaging. In some cases two bones that are next to each other, such as two ribs or the pairs of long bones in the forearms (radius and ulna) or lower legs (tibia and fibula) become fused together. Babies with Caffey disease also have swelling of joints and of soft tissues such as muscles, with pain and redness in the affected areas. Affected infants can also be feverish and irritable.
  • 782
  • 24 Dec 2020
Topic Review
Maturity-Onset Diabetes of the Young
Maturity-onset diabetes of the young (MODY) is a group of several conditions characterized by abnormally high blood sugar levels. These forms of diabetes typically begin before age 30, although they can occur later in life. In MODY, elevated blood sugar arises from reduced production of insulin, which is a hormone produced in the pancreas that helps regulate blood sugar levels. Specifically, insulin controls how much glucose (a type of sugar) is passed from the blood into cells, where it is used as an energy source.
  • 781
  • 23 Dec 2020
Topic Review
Klippel-Feil Syndrome
Klippel-Feil syndrome is a bone disorder characterized by the abnormal joining (fusion) of two or more spinal bones in the neck (cervical vertebrae).
  • 781
  • 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.
  • 781
  • 23 Dec 2020
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