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Topic Review
Nakajo-Nishimura Syndrome
Nakajo-Nishimura syndrome is an inherited condition that affects many parts of the body and has been described only in the Japanese population. Beginning in infancy or early childhood, affected individuals develop red, swollen lumps (nodular erythema) on the skin that occur most often in cold weather; recurrent fevers; and elongated fingers and toes with widened and rounded tips (clubbing).
  • 976
  • 23 Dec 2020
Topic Review
Ataxia-telangiectasia
Ataxia-telangiectasia is a rare inherited disorder that affects the nervous system, immune system, and other body systems. This disorder is characterized by progressive difficulty with coordinating movements (ataxia) beginning in early childhood, usually before age 5. Affected children typically develop difficulty walking, problems with balance and hand coordination, involuntary jerking movements (chorea), muscle twitches (myoclonus), and disturbances in nerve function (neuropathy). The movement problems typically cause people to require wheelchair assistance by adolescence. People with this disorder also have slurred speech and trouble moving their eyes to look side-to-side (oculomotor apraxia). Small clusters of enlarged blood vessels called telangiectases, which occur in the eyes and on the surface of the skin, are also characteristic of this condition.
  • 976
  • 24 Dec 2020
Topic Review
X-linked Sideroblastic Anemia and Ataxia
X-linked sideroblastic anemia and ataxia is a rare condition characterized by a blood disorder called sideroblastic anemia and movement problems known as ataxia. This condition occurs only in males.  
  • 976
  • 24 Dec 2020
Topic Review
Denys-Drash Syndrome
Denys-Drash syndrome is a condition that affects the kidneys and genitalia.
  • 976
  • 24 Dec 2020
Topic Review
TRIP11 Gene
Thyroid hormone receptor interactor 11: The TRIP11 gene provides instructions for making a protein known as Golgi microtubule-associated protein 210 (GMAP-210). 
  • 975
  • 25 Dec 2020
Topic Review
Friedreich Ataxia
Friedreich ataxia is a genetic condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features of this condition include the gradual loss of strength and sensation in the arms and legs; muscle stiffness (spasticity); and impaired speech, hearing, and vision. Individuals with Friedreich ataxia often have a form of heart disease called hypertrophic cardiomyopathy, which enlarges and weakens the heart muscle and can be life-threatening. Some affected individuals develop diabetes or an abnormal curvature of the spine (scoliosis).
  • 974
  • 25 Dec 2020
Topic Review
KL Gene
klotho
  • 974
  • 04 Jan 2021
Topic Review
EZH2 Gene
Enhancer of zeste 2 polycomb repressive complex 2 subunit
  • 973
  • 29 Dec 2020
Topic Review
Cholangiocarcinoma
Cholangiocarcinoma is a group of cancers that begin in the bile ducts. Bile ducts are branched tubes that connect the liver and gallbladder to the small intestine. They carry bile, which is a fluid that helps the body digest fats that are in food. Bile is made in the liver and stored in the gallbladder before being released in the small intestine after a person eats.
  • 972
  • 24 Dec 2020
Topic Review
Autoimmune Polyendocrinopathy-candidiasis-ectodermal Dystrophy
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is an inherited condition that affects many of the body's organs. It is one of many autoimmune diseases, which are disorders that occur when the immune system malfunctions and attacks the body's own tissues and organs by mistake.
  • 972
  • 24 Dec 2020
Topic Review
FECH Gene
Ferrochelatase: The FECH gene provides instructions for making an enzyme known as ferrochelatase. 
  • 972
  • 25 Dec 2020
Topic Review
GFAP Gene
Glial fibrillary acidic protein: The GFAP gene provides instructions for making a protein called glial fibrillary acidic protein. 
  • 972
  • 25 Dec 2020
Topic Review
TMPRSS6 Gene
Transmembrane serine protease 6: The TMPRSS6 gene provides instructions for making a protein called matriptase-2.
  • 972
  • 25 Dec 2020
Topic Review
ACD/MPV
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a disorder affecting the development of the lungs and their blood vessels. The disorder affects the millions of small air sacs (alveoli) in the lungs and the tiny blood vessels (capillaries) in the alveoli. It is through these alveolar capillaries that inhaled oxygen enters the bloodstream for distribution throughout the body and carbon dioxide leaves the bloodstream to be exhaled.
  • 972
  • 04 Jan 2021
Topic Review
ADCY5-related Dyskinesia
ADCY5-related dyskinesia is a movement disorder; the term "dyskinesia" refers to abnormal involuntary movements. The abnormal movements that occur in ADCY5-related dyskinesia typically appear as sudden (paroxysmal) jerks, twitches, tremors, muscle tensing (dystonia), or writhing (choreiform) movements, and can affect the limbs, neck, and face.
  • 971
  • 23 Dec 2020
Topic Review
Uncombable Hair Syndrome
Uncombable hair syndrome is a condition that is characterized by dry, frizzy hair that cannot be combed flat. 
  • 971
  • 23 Dec 2020
Topic Review
Osteopetrosis
Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder can also be distinguished by the severity of their signs and symptoms.
  • 970
  • 24 Dec 2020
Topic Review
Rubinstein-Taybi Syndrome
Rubinstein-Taybi syndrome is a condition characterized by short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes. 
  • 970
  • 24 Dec 2020
Topic Review
Familial Dysautonomia
Familial dysautonomia is a genetic disorder that affects the development and survival of certain nerve cells. The disorder disturbs cells in the autonomic nervous system, which controls involuntary actions such as digestion, breathing, production of tears, and the regulation of blood pressure and body temperature. It also affects the sensory nervous system, which controls activities related to the senses, such as taste and the perception of pain, heat, and cold. Familial dysautonomia is also called hereditary sensory and autonomic neuropathy, type III.
  • 970
  • 25 Dec 2020
Topic Review
Strategies for Folate Biofortification in Soybean
Folate (vitamin B9) is an essential water-soluble vitamin in plants and microorganisms that plays a role in one-carbon metabolism. It functions as a cofactor in the synthesis of nucleic acids, metabolism of amino acids, and methylation of hormones, lipids, proteins, and chlorophyll. Folate is particularly important for cell division in pregnant and lactating women. However, humans cannot synthesise folate de novo and must obtain it from dietary sources, such as crops, animal-based foods, or nutritional supplements. 
  • 970
  • 31 Jan 2023
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