|
Lyngstadaas Syndrome
Lyngstadaas syndrome, also known as severe dental aberrations in familial steroid dehydrogenase deficiency, is a rare autosomal recessive liver disease involving an enzyme (steroid dehydrogenase) deficiency and dental anomalies. The disease is named after the Norwegian professor Ståle Petter Lyngstadaas. Cause Lyngstadaas syndrome is an autosomal recessive liver disease. Diagnosis Management Epidemiology Office of Rare Diseases listed Lyngstadaas syndrome as a "rare disease". This means that Lyngstadaas syndrome, or a subtype of Lyngstadaas syndrome, affects less than 200,000 people in the US population. Orphanet, a consortium of European partners, currently defines a condition rare when if affects 1 person per 2,000. They list Lyngstadaas syndrome as a "rare disease". See also * Rare disease A rare disease is any disease that affects a small percentage of the population. In some parts of the world, an orphan disease is a rare disease whose rarity means there is a l ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dehydrogenase
A dehydrogenase is an enzyme belonging to the group of oxidoreductases that oxidizes a substrate by reducing an electron acceptor, usually NAD+/NADP+ or a flavin coenzyme such as FAD or FMN. Like all catalysts, they catalyze reverse as well as forward reactions, and in some cases this has physiological significance: for example, alcohol dehydrogenase catalyzes the oxidation of ethanol to acetaldehyde in animals, but in yeast it catalyzes the production of ethanol from acetaldehyde. IUBMB Classification Oxidoreductases, enzymes that catalyze oxidation-reduction reactions, constitute Class EC 1 of the IUBMB classification of enzyme-catalyzed reactions. Any of these may be called dehydrogenases, especially those in which NAD+ is the electron acceptor (oxidant), but reductase is also used when the physiological emphasis on reduction of the substrate, and oxidase is used ''only'' when O2 is the electron acceptor. The systematic name of an oxidoreductase is "donor:acceptor oxidore ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ståle Petter Lyngstadaas
Ståle Petter Lyngstadaas is a Norwegian professor and researcher with a focus on biomaterials and bone regeneration. Since 2013, he is the Vice-Dean of Research at Faculty of Dentistry, Oslo University He is the discoverer of Lyngstadaas syndrome Lyngstadaas syndrome, also known as severe dental aberrations in familial steroid dehydrogenase deficiency, is a rare autosomal recessive liver disease involving an enzyme (steroid dehydrogenase) deficiency and dental anomalies. The disease is nam .... References External links Curriculum vitae and publication listDepartment of Biomaterials (University of Oslo) - official website Academic staff of the University of Oslo Living people Year of birth missing (living people) {{Norway-scientist-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Office Of Rare Diseases
The Office of Rare Diseases Research is a division of the National Center for Advancing Translational Sciences (NCATS) that oversees the Rare Diseases Clinical Research Network and Genetic and Rare Diseases Information Center. History The Office of Rare Diseases Research was established in 1993 within the Office of the Director of the NIH. Its responsibilities were mandated by statute by the Rare Diseases Act of 2002 The Rare Disease Act of 2002 is a law passed in the United States that establishes the statutory authorization for the Office of Rare Diseases as a federal entity able to recommend a national research agenda, coordinate research, and provide educ .... In 2011, the office became part of the newly created NCATS. ORDR is currently headed by Dr. Anne R. Pariser, who took over the position in February 2018. References {{reflist National Institutes of Health ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Orphanet
Orphanet is a knowledge base dedicated to rare diseases as well as corresponding diagnosis, orphan drugs, clinical trials and expert networks The website is managed by a network of academic establishments from 40 countries, led by Inserm. It contains content both for physicians and for patients. Its administrative office is in Paris and its official medical journal is the ''Orphanet Journal of Rare Diseases'' published on their behalf by BioMed Central. As of October 2020, the site provides information about over 6100 rare diseases and 5400 genes. Functions available Orphanet is an online database with the aspiration of gathering, providing and improving knowledge on rare diseases and to improve the diagnosis, care and treatment of patients with rare diseases. By listing rare diseases, and maintaining a standard nomenclature of rare diseases (ORPHAcodes) Orphanet makes a contribution in making them more visible in health and research information systems. The information is ava ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Rare Disease
A rare disease is any disease that affects a small percentage of the population. In some parts of the world, an orphan disease is a rare disease whose rarity means there is a lack of a market large enough to gain support and resources for discovering treatments for it, except by the government granting economically advantageous conditions to creating and selling such treatments. Orphan drugs are ones so created or sold. Most rare diseases are genetic and thus are present throughout the person's entire life, even if symptoms do not immediately appear. Many rare diseases appear early in life, and about 30% of children with rare diseases will die before reaching their fifth birthdays. With only four diagnosed patients in 27 years, ribose-5-phosphate isomerase deficiency is considered the rarest known genetic disease. No single cut-off number has been agreed upon for which a disease is considered rare. A disease may be considered rare in one part of the world, or in a particular gro ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Syndromes Affecting Teeth
A syndrome is a set of medical signs and symptoms which are correlated with each other and often associated with a particular disease or disorder. The word derives from the Greek σύνδρομον, meaning "concurrence". When a syndrome is paired with a definite cause this becomes a disease. In some instances, a syndrome is so closely linked with a pathogenesis or cause that the words ''syndrome'', ''disease'', and ''disorder'' end up being used interchangeably for them. This substitution of terminology often confuses the reality and meaning of medical diagnoses. This is especially true of inherited syndromes. About one third of all phenotypes that are listed in OMIM are described as dysmorphic, which usually refers to the facial gestalt. For example, Down syndrome, Wolf–Hirschhorn syndrome, and Andersen–Tawil syndrome are disorders with known pathogeneses, so each is more than just a set of signs and symptoms, despite the ''syndrome'' nomenclature. In other instances, a synd ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
