Orphanet is a European website providing information about orphan drugs and rare diseases.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.
An orphan drug is a pharmaceutical agent developed to treat medical conditions which, because they are so rare, would not be profitable to produce without government assistance. The conditions are referred to as orphan diseases.
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.
Paris is the capital and most populous city of France, with an area of 105 square kilometres and an official estimated population of 2,140,526 residents as of 1 January 2019. Since the 17th century, Paris has been one of Europe's major centres of finance, diplomacy, commerce, fashion, science, and the arts. The City of Paris is the centre and seat of government of the Île-de-France, or Paris Region, which has an estimated official 2019 population of 12,213,364, or about 18 percent of the population of France. The Paris Region had a GDP of €709 billion in 2017. According to the Economist Intelligence Unit Worldwide Cost of Living Survey in 2018, Paris was the second most expensive city in the world, after Singapore, and ahead of Zürich, Hong Kong, Oslo and Geneva. Another source ranked Paris as most expensive, on a par with Singapore and Hong Kong, in 2018.
The website is managed by a consortium of academic establishments from 35 countries, led by Inserm.
The Institut national de la santé et de la recherche médicale is the French National Institute of Health and Medical Research.
Arthrogryposis multiplex congenita (AMC), or simply arthrogryposis, describes congenital joint contracture in two or more areas of the body. It derives its name from Greek, literally meaning "curving of joints". Children born with one or more joint contractures have abnormal fibrosis of the muscle tissue causing muscle shortening, and therefore are unable to perform active extension and flexion in the affected joint or joints.
A ring chromosome is an aberrant chromosome whose ends have fused together to form a ring. Ring chromosomes were first discovered by Lilian Vaughan Morgan in 1926. A ring chromosome is denoted by the symbol r in human genetics and R in Drosophila genetics. Ring chromosomes may form in cells following genetic damage by mutagens like radiation, but they may also arise spontaneously during development.
Oculocutaneous albinism is a form of albinism involving the eyes (oculo-), the skin (-cutaneous), and according to some definitions, the hair. Overall, an estimated 1 in 20,000 people worldwide are born with oculocutaneous albinism. OCA is caused by mutations in several genes that control the synthesis of melanin within the melanocytes. Four types of oculocutaneous albinism have been described, all caused by a disruption of melanin synthesis and all autosomal recessive disorders.
Oculocerebrorenal syndrome is a rare X-linked recessive disorder characterized by congenital cataracts, hypotonia, intellectual disability, proximal tubular acidosis, aminoaciduria, and low-molecular-weight proteinuria. Lowe syndrome can be considered a cause of Fanconi syndrome.
Uhl's anomaly was first described in 1952 by Dr. Henry Uhl (1921–2009) upon examining one of his patients. It is a very rare congenital heart disease with a partial or total loss of the myocardial muscle in the right ventricle.
Zori–Stalker–Williams syndrome, also known as pectus excavatum, macrocephaly, short stature and dysplastic nails, is a rare autosomal dominant congenital disorder associated with a range of features such as pectus excavatum, macrocephaly and dysplastic nails, familial short stature, developmental delay and distinctive facies. Further signs are known to be associated with this syndrome.
Renal dysplasia-limb defects syndrome, also known as Ulbright–Hodes syndrome, is a very rare autosomal recessive congenital disorder. It has been described in three infants, all of whom died shortly after birth.
Upington disease, is an extremely rare autosomal dominant malformation disorder. It has only one published source claiming its existence in three generations of one family from South Africa.
Familial progressive hyperpigmentation is characterized by patches of hyperpigmentation, present at birth, which increase in size and number with age. This is a genetic disease, however the gene that accounts for this spotty darkening of the skin has yet to be discovered. Although rare, the congenital disease is most prevalent among populations originating from China.
Delta-beta thalassemia is a form of thalassemia, and is autosomal recessive in terms of heredity. It is associated with hemoglobin subunit delta.
The European Organisation for Rare Diseases (EURORDIS) is a non-governmental patient-driven alliance of patient organizations and individuals active in the field of rare diseases, that promotes research on rare diseases and commercial development of orphan drugs. EURORDIS is a dedicated to improving the quality of life of all people living with rare diseases in Europe. It was founded in 1997; it is supported by its members and by the French Muscular Dystrophy Association (AFM), the European Commission, corporate foundations and the health industry.
Waldmann disease is a rare disease characterized by enlargement of the lymph vessels supplying the lamina propria of the small intestine.
Mycetoma is a term for a chronic subcutaneous infection caused by aerobic actinomycetic bacteria (actinomycetoma) or fungi (eumycetoma). While most cases of mycetoma occur in Sudan, Venezuela, Mexico, and India, its true prevalence and incidence are not well-known. It appears most frequently in people living in rural areas, particularly farmers and shepherds. It is listed by the World Health Organization (WHO) as a neglected tropical disease.
Hughes–Stovin syndrome is a rare autoimmune disorder of unknown cause that is characterized by the combination of multiple pulmonary artery aneurysms and deep vein thrombosis. It is named after the two British physicians, John Patterson Hughes and Peter George Ingle Stovin, who first described it in 1959. It is a rare variant of Behçet's disease, which entails more general problems with the circulatory system. Most patients are young adult males between the age of 20–40. Common clinical presentations include fever, cough, dyspnea and hemoptysis. Radiological features are similar to those of Behçet's disease.
Imerslund–Gräsbeck syndrome, is a rare autosomal recessive, familial form of vitamin B12 deficiency caused by malfunction of the "Cubam" receptor located in the terminal ileum. This receptor is composed of two proteins, amnionless (AMN), and cubilin. A defect in either of these protein components can cause this syndrome. This is a rare disease, with a prevalence about 1 in 200,000, and is usually seen in patients of European ancestry.
Lyngstadaas Syndrome, also known as severe dental aberrations in familial steroid dehydrogenase deficiency, is a rare autosomal recessive liver disease involving an enzyme deficiency and dental anomalies. The disease is named after the Norwegian professor Ståle Petter Lyngstadaas.
The Orphanet Journal of Rare Diseases is a peer-reviewed open access medical journal covering research on rare diseases. It was established in 2006 and the editor-in-chief is Francesc Palau. It is an official journal of Orphanet and is published by BioMed Central.
Patient Innovation is a website that shares solutions and ideas developed by patients and informal caregivers for managing personal health issues. It is a non-profit and also provides rating tools and options to report and track modified solutions that these individuals develop.
The International Classification of Diseases (ICD) is the code used for the purpose of documenting a person's medical condition. It is usually important for health insurance reimbursement, administration, epidemiology, and research. Of the approximately 7,000 rare diseases, only about 500 have a specific code. An ICD code is needed for a person's medical records—it is important for health insurance reimbursement, administration, epidemiology, and research. Finding the best ICD code for a patient who has a rare disease can be a challenge.
|This article about a medical organization or association is a stub. You can help Wikipedia by expanding it.|