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  • Rare diseases

    • Search

      Enter your requested disease name, gene symbol, or number of the classification system you have selected in the query zone and click OK to validate.

      You may use truncated names. A list of all diseases or genes matching your query will appear. Select the one of interest to you.
      Each disease is described by a name, synonyms and relevant keywords. Each gene is described by its name in English and its symbol(s). Diseases and genes are cross referenced.

      Each disease is also defined by its MIM number(s), its ICD code(s) and its Orpha number :

      • MIM is the database of mendelian phenotypes and genes created by Dr. McKusick
      • ICD-10 is the 10th International Classification of Diseases established by World Health Organisation
      • The Orpha number refers to the Orphanet classification of diseases

    • Encyclopaedia for patients

      The Patient Encyclopaedia is comprised of a set of information sheets produced by Orphanet and peer-reviewed by disease experts and dedicated patient organisations.
      They are not yet available in all of the six Orphanet languages or for all rare diseases.


      To view a specific disease profile, click on the first letter of the disease name.

      Downloading of the Patient Encyclopaedia texts requires the installation of Acrobat Reader.

    • Encyclopaedia for professionals

      The Professional Encyclopaedia is comprised of a set of articles which are expert-authored and peer-reviewed.

      There are four categories of articles:
      • Review articles are comprehensive articles summarising the current medical knowledge on a disease.
      • Practical Genetics articles are review articles focusing on genetic knowledge and the patient workup.
      • The Emergency Guidelines are summary recommendations for the management of patients in emergency situations.
      • Good Practice guidelines are summary recommendations for the management of patients, issued by official organisations.

      They are not yet available in all of the six Orphanet languages or for all rare diseases.


      To view a specific article, access the alphabetical disease list

    • Emergency guidelines

      The emergency guidelines are articles which are expert-authored and peer-reviewed. They are intended to guide health care professionals in emergency situations.
      They are not yet available in the six languages of Orphanet or for all rare diseases.


      To view a specific article, access the alphabetical disease list.

    • Search by sign

      This service enables you to retrieve information about diseases by searching clinical signs using a controlled vocabulary (Thesaurus) organised by main organs and systems.


      Step 1: Select a query rule

      • Optional means that a disease is considered even if the sign is not listed in the disease profile. This is the default option.
      • Mandatory means that only diseases with this sign listed in the disease profile are considered.

      Due to the large variability of most diseases expression, it is recommended that ‘optional’ be selected when there is no satisfactory search result with ‘mandatory’.

      Step 2: Select signs

      To start the search, enter at least one clinical sign.
      You can enter clinical signs:

      • By entering a search term and clicking on the 'Search' button. The search will return a list of matching terms from which you may make a selection.
      • By using the thesaurus that groups first-level clinical signs from which you may select a subgroup of second-level clinical signs.
        The selected sign will then be entered into your list of search criteria. Up to five signs may be selected. The ‘search’ button will automatically be replaced by a ‘delete’ button which can be used to delete a sign if necessary. The options in step 2 will then appear on the screen.

      Step 3: Search matching diseases

      Once you have selected your search criteria (1 to 5) in the table, click on ‘Search’ in the Step 3 zone. A list of diseases corresponding to your search criteria will be displayed.
      When criteria are optional, the diseases in the list are classified by decreasing order of number of matching signs.
      To access information on a disease, click on it.


      Not all rare diseases are currently indexed with their clinical signs as the indexing process is ongoing. This service is currently available for over 2,000 rare diseases only. As Orphanet does not include information on common diseases, this service cannot be used as a support to differential diagnosis with common diseases which should always be considered first. Establishing a diagnosis remains the full responsibility of the clinician using the Orphanet information service.

  • Orphan drugs

    • Search

      Orphan drugs may be searched by product name or by name of the disease for which they are designated. Click in the appropriate box to select your option.
      Product names include the trade name, compound name in English, chemical name in English, INN or code name.
      Each disease is described by a name, synonyms and keywords which can be used to query the database.
      You may use truncated names.
      A list of all diseases or of all medicinal products matching your query will appear. Select the one of interest to you by clicking on it.


      The list of Orphan Drugs in the Orphanet database includes all the medicinal products which have received an orphan designation, independently from the fact that they were further developed to become market approved drugs.
      The Orphanet database also includes drugs without an orphan designation as long as they have a marketing authorisation and a specific indication for a rare disease. The lists are established using the information available at the relevant governmental agencies, and information provided by sponsors of medicinal products with an orphan designation when the product is not yet marketed.

      Orphanet acknowledges the contribution of the European Medicines Agency (EMA) to the creation of the database on orphan medicinal products in Europe. This project was initiated by the Committee for Orphan Medicinal Products (COMP) at the EMA. Several members of the COMP have individually contributed to the development of the database, which was welcomed by the COMP as a significant tool for all stakeholders.
      The database has been developed entirely and autonomously by Orphanet, using public and private funding and publicly available data; as such, neither the EMA nor the COMP are responsible for the content and management of the database.

      The Orphanet database of orphan drugs was developed with co-funding from the following institutions and companies:

      Leem novartis pfizer Merck Serono PharmaMar Genzyme Biomarin

    • Participate in clinical research

      During the past years, a service was available to offer persons suffering from rare diseases the opportunity to volunteer for active participation in the development of clinical research. Registered patients were informed of ongoing and new clinical studies of interest to them. This service had to be suspended for a few months when Orphanet launched its new version of its website in March 2008, as it was not compatible anymore with the new database structure. The Orphanet team is currently working to fix the problem. Patients already registered have been informed of the interruption of the service offered to them.

    • Register your activity

  • Expert centres

    • Search

      This screen gives access to lists of centres of expertise through a query by disease name or by country: you must specify either the disease or the country. You may specify the type of centres of expertise (clinical management or genetic counselling; for adults or children; or whether you only want to view designated centres of expertise) by clicking on the corresponding buttons (optional).


      Enter your requested disease name in the query zone and click OK to validate.
      You may use truncated names.
      A list of all diseases matching your query will appear. Select the disease of interest to you.


      The centres of expertise listed in Orphanet are those considered to offer a specific expertise on a rare disease or a group of rare diseases. They match the following criteria: adapted technical platform, multidisciplinary team when necessary and clinical research expertise. Only those located in Europe and surrounding countries are listed. The level of expertise of the centre varies from one country to another, depending on the health care system and on the size of the country.

      Two types of centres of expertise are listed: the medical management and the genetic counselling centres of expertise, as many rare diseases are genetically determined. It is specified whether they are adapted for children only or for adults only.
      When a centre of expertise has an official status in its country, it is indicated; however, official centres of expertise exist in very few European countries. Clinicians must apply to have their centre of expertise listed. They must provide evidence of their particular expertise to be considered. The applications are reviewed by the members of the Orphanet scientific advisory board in charge of the relevant medical specialty of the country concerned. The data are updated every year.

      The French National Cancer Institute (INCa) networks correspond to the structuring of healthcare services for adult patients with rare cancers set up by the French National Cancer Institute.


      It is recommended not to ask for very large lists as the number of possible results is voluntarily limited to protect the database from abuses.
      In case you wish to obtain large datasets, please ask Orphanet to do the data extraction for you.

      Data collection takes place in European and surrounding countries and is currently ongoing. Thus the database cannot be regarded as comprehensive. If an centre of expertise is not listed in a region or a country, it may not have been identified or the centre of expertise may have refused to be listed. It is also possible that a centre of expertise has not yet been set up for some rare diseases.

      By no means are these centres of expertise the only places where patients can be adequately diagnosed and treated. There are other places for expert advice when needed.

    • Register your activity

  • Diagnostic tests

    • Search

      • Simple search: This screen gives access to lists of expert laboratories through a query by disease name or by gene name/symbol. You may optionally specify the country and the type of quality management (accreditation, EQA) required for the laboratory. Enter your request in the query zone, select additional desired criteria, and click on OK to validate.
        You may use truncated names. A list of all names matching your query will appear. Select the one of interest to you.
      • Search by city: This screen provides access to lists of expert laboratories through a query by disease name or by gene name/symbol restricted to a specific city.
      • Search by laboratory: This screen provides access to lists of expert laboratories through a query by laboratory or institution name or EUGT number, optionally restricted to a geographical area. To define the area, select a country in the drop-down list. You may also define the services that the laboratory should provide by clicking the appropriate boxes. You may also restrict your search by medical specialty. The EUGT number is a unique identifier attributed by Orphanet to all registered laboratories.
      • Search by professional: This screen provides access to lists of experts working in laboratories registered with Orphanet for their activity in the field of rare diseases and / or genetic testing. The query can be restricted to a country.

      Medical laboratories listed in Orphanet are those offering tests for the diagnosis of a rare disease or a group of rare diseases, and those performing genetic testing whatever the prevalence of the disease. Displayed information is provided by scientists in charge of the diagnostics activities. They must apply to have their laboratory activity listed.

      Review of applications and validation of submitted information are under the supervision of the Orphanet country coordinator.

      Information on accreditation of medical laboratories is reviewed by Eurogentest and experts in the field.

      Information on EQA participation is yearly provided by CF Network, CEQA and EMQN with the consent of the concerned laboratories. For other EQA providers, information is validated by Orphanet upon reception of an EQA participation certificate; otherwise the information provided on the Orphanet website is deemed ‘not validated’ and associated with a * sign.

      Accréditation
      Accreditation is a “procedure by which an authoritative body gives formal recognition that a body or person is competent to carry out specific tasks” (ISO 9000, 2000 Quality management systems – fundamentals and vocabulary).
      Accreditation standards related to medical laboratories (for example, ISO15189) place emphasis on having an effective quality assurance system in place, on a commitment to meeting needs of patients and their doctors as users of laboratory services and a need for continuous cycle of quality improvement at the centre of all policy making a operational decisions.

      CQE EQA (External Quality Assessment, also known as proficiency testing) is “a system whereby a set of reagents and techniques are assessed by an external source and the results of the testing laboratory are compared with those of an approved reference laboratory” (WHO). It allows a laboratory to compare its performance for an individual test or technique against that of other laboratories.

      EuroGentest website

      It is recommended not to ask for very large lists as the number of possible results is voluntarily limited to protect the database from abuses.
      In case you wish to obtain large datasets, please ask Orphanet to do the data extraction for you.

      Data collection takes place in European and surrounding countries and is currently ongoing. The database cannot yet be regarded as comprehensive. If an expert clinical laboratory is not listed in a region or a country, it may not have been identified or the laboratory may have refused to be listed. It is also possible that diagnostic testing facilities do not yet exist for all rare diseases or in every region.

    • EuroGentest

      What is EuroGentest ?

      EuroGentest is a network of excellence, which has been funded by the European Commission since 2005 until 2012. It aims to harmonize and improve the overall quality of genetic services in Europe. Orphanet is a partner of the network, in charge of disseminating the information on testing activities in European Laboratories and on quality management of the laboratories providing these services. EuroGentest participates in the review of data on accreditation for medical laboratories.

      EuroGentest website

    • Register your activity

  • Research and trials

    • Search

      This screen gives access to lists of research projects and clinical trials through a query by disease name or gene name. You may specify the country by selecting it among the list provided (optional).
      Enter your requested disease name or gene name in the query zone and click OK to validate.

      You may use truncated names. A list of all diseases or of all genes matching your query will appear. Select the one of interest to you.

      • Search by research category: This screen provides access to lists of research projects through a query by disease name or gene name, restricted to a category of research activity. You may specify the country by selecting it among the list provided (optional).

      Enter your requested disease name or gene name in the query zone and / or select a type of research project among the proposed list and click OK to validate.


      Research projects registered with Orphanet are those which are supported by a grant from official research institutions at the national or European level, or by NGOs after a peer-review process. The information which is displayed is provided by the researchers. They must apply to have their research activity listed. The applications are reviewed by the members of the Orphanet scientific advisory board of the country in charge of the relevant specialty.

      The clinical trials which are registered with Orphanet are those taking place in Europe and surrounding countries. The information which is displayed is provided by the sponsor and by the principal investigator, except in France where data is provided by AFSSAPS.
      The data is updated annually.


      The data collection takes place in European and surrounding countries and is currently ongoing. The database cannot yet be regarded as comprehensive. If there is no research project or clinical trial listed for a disease or a group of diseases, it may be that no research activity is ongoing, but it is also possible that the researcher has refused to be listed.

    • Participate in clinical research

      During the past years, a service was available to offer persons suffering from rare diseases the opportunity to volunteer for active participation in the development of clinical research. Registered patients were informed of ongoing and new clinical studies of interest to them. This service had to be suspended for a few months when Orphanet launched its new version of its website in March 2008, as it was not compatible anymore with the new database structure. The Orphanet team is currently working to fix the problem. Patients already registered have been informed of the interruption of the service offered to them.

    • Innovating projects

      OrphanXchange

      OrphanXchange ( www.orphanxchange.org) is a website, created in response to the needs expressed by Alliance Maladies Rares patient organizations, which provides access to a database of molecules and technologies of interest and potential partners in the pursuit of bringing together academic research projects and the private sector with the ultimate goal of developing diagnostic solutions and orphan drugs (official name of rare disease therapies). These diagnostic and orphan drug development initiatives may be the result of academic research or even concern market authorized molecules previously having another indication with potential to treat rare diseases. A preliminary analysis was conducted by patient organisations and physicians by identifying drugs prescribed “off-label” by healthcare professionals to address the real needs of rare disease patients. As a result of this work, the OrphanXchange database currently contains research projects involving potential orphan drugs affecting more than 35 rare diseases. The OrphanXchange webiste is freely accessible to all stakeholders, however registration is required for more detailed information. OrphanXchange operates in collaboration with Orphanet (www. orpha.net) the European database of rare diseases. OrphanXchange is financially supported by the European Commission, INSERM (Institute National de la Sante et Recherche Medicale) and LEEM (Les Entreprises du Medicament).

    • Registries / databases

      This screen gives access to lists of registries through a query by disease name.


      The registries which are registered with Orphanet are those which systematically collect data on a disease or a group of diseases. The information which is displayed is provided by the researchers.
      Registries must apply to be listed. The applications are reviewed by the member of the Orphanet scientific advisory board of the country in charge of the relevant specialty.
      All types of data collection are considered: registries, databases, observatory of cases, as long as they can serve as a source of data for clinical research.


      Data collection takes place in European and surrounding countries and is currently ongoing. The database cannot yet be regarded as comprehensive. If there is no registry listed for a disease or a group of diseases, it may be that no registry is available, but it is also possible that the researcher has refused to be listed.

    • Register your activity

  • Patient organisations

    • Search

      This screen gives access to list of support groups through a query by disease name. You may specify the country by selecting it among a list, but this is optional.
      Put your requested disease name in the query zone and click on OK to validate.
      You can use truncated names. A list of all diseases matching your query will appear. Select the disease of interest to you.

      • Search by patient organisation name: This screen gives access to list of support groups matching a name. Put the name of the organisation you are looking for in the query zone and click on OK to validate. You may specify the country by selecting it among a list, but this is optional.
      • Search by country: This screen gives access to lists of support groups by country. They are classified by alphabetical order of their name. Click on a country. If you want to have details on an organisation, click on its name.
        In some countries the list may be very long. It will take some time before it appears if you have a slow connection. To search for a specific organisation, it is easier to query by patient organisation name.

      The patient organisations listed in Orphanet are the patient organisations registered in Europe and surrounding countries whose activity is targeted at a rare disease or a group of rare diseases. The information which is displayed is the information provided by the head of the organisation.


      It is recommended not to ask for very large lists as the number of possible results is voluntarily limited to protect the database from abuses.
      In case you wish to obtain large datasets, please ask Orphanet to do the data extraction for you.

      Data collection takes place in European and surrounding countries and is currently ongoing, thus the database cannot be regarded as comprehensive yet. If no patient organisation is listed for a disease or in a country, it may be that no patient organisation is available, but it is also possible that the patient organisation has refused to be listed.

    • Services for organisations

      This service is currently only available in French

    • Contact other patients

      This service is currently only available in French

    • Register your activity

  • Professionals and institutions

    • Search for a person

      • Search by name of the professional: Enter the name of the professional in the query zone and click OK to validate. You may use truncated names. A list of all names matching your query will appear. Select the one of interest to you.
      • Search by institution: Enter the name of the institution or the name of the department/service in the appropriate query zone and click OK to validate. You may use truncated names. A list of all names matching your query will appear. Select the one of interest to you.

      You can also restrict your query to a specific area by selecting a country among the provided list and by entering the name of a city (optional). The country must be selected first as the list of cities depends on the country.


      The professionals listed are those who have registered their activity in the field of rare diseases with Orphanet. This includes, for example, physicians in charge of an expert clinic, biologists acting in a clinical laboratory, researchers and representatives of patient organisations, experts writing or peer-reviewing data for Orphanet or assisting Orphanet in its governance.

      The information which is displayed is provided by the professional. This includes contact details and information on the professional’s activity in relation to rare diseases or with Orphanet.

      Data collection takes place in European and surrounding countries and is currently ongoing. The database cannot be regarded as comprehensive yet. If an expert is not listed, he/she may not yet have been identified or he/she may have refused to be listed.

    • Search for an institution

      Enter the name of the institution or department you are looking for in the query zone and click OK to validate. You may use truncated names. A list of all names matching your query will appear. Select the one of interest to you.

      You can restrict your query to a specific area by selecting a country among the provided list and by entering the name of a city (optional). The country must be selected first as the list of cities depends on the country.


      The institutions listed are those which have registered their activity in the field of rare diseases with Orphanet. The published information has been provided by the head of the institution. This includes, for example, institutions hosting centres of expertise, clinical laboratories, research laboratories and patient organisations.
      The information displayed is provided by the professionals working in this institution who are registered with Orphanet.

      Data collection takes place in European and surrounding countries and is currently ongoing, thus the database cannot be regarded as comprehensive yet. If an institution is not listed, it may not have yet been identified or may have refused to be listed.

    • Register your activity

    • Register/Read the newsletter

      Welcome to OrphaNews Europe!

      OrphaNews Europe is the freely available, twice-monthly electronic newsletter of the European Union Committee of Experts on Rare Diseases (formerly the EC Rare Diseases Task Force).

      In each new issue, OrphaNews Europe reports the latest developments in the field of rare diseases and orphan drugs, including new syndromes, new genes, basic and clinical research, national and international policy, disease surveillance, clinical trial updates, orphan drug approvals, funding opportunities, ethical, social and legal issues, news from the patient associations, upcoming events, and new publications.

      OrphaNews Europe is suited to all sectors of the rare disease and orphan drugs community - including policy makers, scientists, health professionals, patient representatives, geneticists, members of the biopharmaceutical industry and anyone interested in staying informed of important developments and new initiatives in the field of rare diseases and orphan drugs.

      Subscription

      Orphanews Europe

      Bienvenue sur Orphanews France !

      Orphanews est une lettre d'information en français sur les maladies rares et les médicaments orphelins.

      Publiée tous les quinze jours et accessible sur l'interface française d'Orphanet et par abonnement, elle s'adresse à toutes les personnes concernées de près ou de loin par les maladies rares.

      Orphanews présente un aperçu des actualités récentes sur ces pathologies : découverte de gènes, explication de mécanismes pathologiques, recherches cliniques, prise en charge thérapeutique, politique de recherche et de santé, vie des associations, colloques...

      Lire ou s'abonner à Orphanews France

      Orphanews France

      Benvenuti su OrphaNews Italia!

      OrphaNews Italia è la versione italiana della newsletter elettronica di EUCERD, il comitato di esperti dell'Unione Europea sulle malattie rare (in precedenza denominato Task Force della Commissione Europea sulle malattie rare).

      Si tratta di una newsletter bimensile accessibile online gratuitamente. In ogni nuova newsletter, OrphaNews Italia divulga gli ultimi sviluppi nel campo delle malattie rare e dei farmaci orfani, compresi i nuovi geni, le nuove sindromi, la ricerca di base e clinica, le iniziative politiche nazionali e internazionali, l'attività di sorveglianza epidemiologica, gli aggiornamenti sulle sperimentazioni cliniche, l.approvazione dei farmaci orfani, le opportunità di finanziamento, le questioni etiche, sociali e legali, le iniziative delle associazioni di pazienti, gli eventi imminenti e le nuove pubblicazioni.

      OrphaNews Italia si indirizza a tutti gli stakeholder della comunità delle malattie rare e dei farmaci orfani . compresi i decisori politici, gli scienziati, i professionisti della salute, i rappresentanti dei pazienti, dell.industria biofarmaceutica, i genetisti e chiunque voglia essere informato sulle notizie rilevanti e sulle nuove iniziative nel campo delle malattie rare e dei farmaci orfani.

      Registrati

      Orphanews Italia

    • Get in touch

      For information on a rare disease

      Write the name of the disease (or only part of the name) in the box provided on the front page, then click on 'search'.

      We do not answer questions relating to information on diseases, as all available information at our disposal is freely accessible on the web site.

      If you cannot find the information you are searching for, please consult the alphabetical list of diseases, or try another approximate spelling. If you are still unable to find the information you require, please send us a message by email:
      .

      For a research collaboration or a study

      If you would like to obtain a substantial amount of information from the database for research work, a report or personal use: www.orphadata.org.

      For a personal query

      Orphanet cannot answer personal queries. You should contact a dedicated service.

      Helplines for personal queries
      Country Organisation By email By phone
      Australia The Association of Genetic Support of Australasia: www.agsa-geneticsupport.org.au/ +61 2 9211 1462
      Bulgaria ICRDOD (Information Center for Rare Diseases and Orphan Drugs): www.raredis.org +359 (0)32 57 57 97
      Canada CORD (Canadian Organization for Rare Disorders): www.raredisorders.ca +1-877 302 7273 (English speakers)
      RQMO (Regroupement Québécois des Maladies Orphelines - Portail Info Maladies Rares Québec):
      www.rqmo.org      		 +1-855 543 0550 (French speakers)
      Denmark Team Sjældne Handicap: www.csh.dk
      		 +45 72 42 40 47
      Germany ACHSE (Allianz Chronischer Seltener Erkrankungen): www.achse-online.de
      Korea Office of rare diseases of NIH:
      helpline.cdc.go.kr      		 02)380-2219-21
      Finland Harvinaiset Sairaus: www.harvinaiset.fi
      France Maladies Rares Info Services:
      www.maladiesraresinfo.org       		From France:
      0 810 631 920 (n°azur)
      From abroad:
      +33 156 538 136
      Italy Istituto Superiore di Sanità: Centro Nazionale Malattie Rare: www.iss.it/cnmr/ +39 800 89 69 49
      Norway Norwegian Directorate of Health - Rehabilitation and rare disorders department:
      www.helsedirektoratet.no/sjelden
      		+47 800 41710
      Portugal Linha Rara: http://www.linharara.pt/index.php 707 100 200
      Romania Centrul de informare pentru Boli Genetice Rare: www.apwromania.ro/index.php?act=cibgr 080 080 1111
      Spain Oficina de Gestión del Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) +34 963 39 47 89
      Servicio de Información y Orientación de FEDER +34 902 18 17 25
      Sweden The Swedish Information Centre for Rare Diseases: www.socialstyrelsen.se/en/rarediseases
      		 +46-(0)31-786 5590
      Taiwan Taiwan Foundation for Rare Disorders:
      www.tfrd.org.tw/english/      		 Contact form:
      www.tfrd.org.tw/english/contact/index.php
      UK Contact-a-family : www.cafamily.org.uk 0 808 808 3555
      USA NORD (National Organization for Rare Disorders): www.rarediseases.org +1 (800) 999 6673
      Genetic and Rare Diseases Information Center (GARD):
      www.rarediseases.info.nih.gov/GARD/ Default.aspx      		 Contact form:
      www.rarediseases.info.nih.gov/GARD/ EmailForm.aspx      		 Monday - Friday, 12:00 p.m. to 4:00 p.m. Eastern Time
      (888) 205-2311 (Phone)
      (888) 205-3223 (TTY)
      (301) 251-4925 (International Telephone Access Number)

      To register an activity

      Please complete the short questionnaire: Register / Update your activity

      For other purposes

      • For technical requests regarding connection:

      • Contact the information team to report content to modify:

      • Contact the communications team:
      • Contact the national Orphanet teams :
      Orphanet Armenia Orphanet Greece Orphanet Poland
      Orphanet Australia Orphanet Hungria Orphanet Portugal
      Orphanet Austria Orphanet Ireland Orphanet Quebec/Canada
      Orphanet Belgium Orphanet Israel Orphanet Romania
      Orphanet Bulgaria Orphanet Italia Orphanet Serbia
      Orphanet Croatia Orphanet Latvia Orphanet Slovakia
      Orphanet Cyprus Orphanet Lebanon Orphanet Slovenia
      Orphanet Czech Republic Orphanet Lithuania Orphanet Spain
      Orphanet Denmark Orphanet Luxembourg Orphanet Sweden
      Orphanet Estonia Orphanet Morocco Orphanet Switzerland
      Orphanet Finland Orphanet Netherlands Orphanet Turkey
      Orphanet France Orphanet Norway Orphanet United Kingdom
      Orphanet Germany

      Contact the coordinating team

      Orphanet / INSERM US14
      Rare Disease Platform
      96, rue Didot
      75014 Paris, France

      Phone: +33 (0)1.56.53.81.37
      Fax : +33 (0)1.56.53.81.38

      To locate our office in Paris, please consult the map.


      Larger Map

  • Other information

    • About Orphanet

      :: About Orphanet


      Orphanet is the reference portal for information on rare diseases and orphan drugs, for all audiences. Orphanet’s aim is to help improve the diagnosis, care and treatment of patients with rare diseases.

      Orphanet services

      Orphanet offers a range of freely accessible services:


      The organisation and governance of Orphanet

      Orphanet is led by a consortium of around 40 countries, coordinated by the French INSERM team. National teams are responsible for the collection of information on expert centres, medical laboratories, ongoing research and patient organisations in their country. All Orphanet teams work according to the Orphanet Standard Operating Procedures.

      The French coordinating team is responsible for the infrastructure of Orphanet, management tools, quality control, rare disease inventory, classifications and production of the encyclopaedia.

      Orphanet is governed by various committees, which independently supervise the project in order to ensure its coherence, evolution and viability.

      At European level
      • The Management Board is composed of Orphanet country coordinators. This committee is chaired by the director of the Inserm-Orphanet department. This board identifies funding opportunities and guides the project.
      • The Steering Committee is composed of representatives from the agencies and bodies which finance Orphanet’s core services. This committee is chaired by the director of the Inserm-Orphanet department. This committee ensures that Orphanet’s content reflects the policy, strategy or plan at the country level in the field of rare diseases.
      • The International Advisory Board is composed of experts proposed by the Management Board and nominated by the Steering committee. Board members are in charge of advising the Steering committee regarding the overall strategy of the project.

      At national level
      • The National Advisory Board is composed by members nominated by the appropriate legitimate institutions which are defined at country level. The board members contribute with their expertise to Orphanet at country level.

      Orphanet’s funding

      The infrastructure and coordination activities are funded jointly by Inserm (the French National Institute of Health and Medical Research), the French Directorate General for Health, and the European Commission. Certain services are specifically funded by other partners. Orphanet’s national activities are financed by national institutions and/or specific contracts.


      The Activity report of Orphanet

      An activity report is produced annually and is published online on the Orphanet website.

      Click here to consult the latest activity report.


      Click here to access our website statistics.

    • About rare diseases

      About Rare Diseases About rare diseases policies

      :: About Rare Diseases

      What is a rare disease?

      Rare diseases are diseases which affect a small number of people compared to the general population and specific issues are raised in relation to their rarity. In Europe, a disease is considered to be rare when it affects 1 person per 2000. A disease can be rare in one region, but common in another. This is the case of thalassemia, an anaemia of genetic origin, which is rare in Northern Europe, but it is frequent in the Mediterranean region. 'Periodic disease' is rare in France, but common in Armenia. There are also many common diseases whose variants are rare.

      How many rare diseases are there?

      There are thousands of rare diseases. To date, six to seven thousand rare diseases have been discovered and new diseases are regularly described in medical literature. The number of rare diseases also depends on the degree of specificity used when classifying the different entities/disorders. Until now, in the field of medicine, a disease is defined as an alteration of the state of health, presenting as a unique pattern of symptoms with a single treatment. Whether a pattern is considered unique depends entirely on the level of definition of our analysis. The more accurate our analysis, the more we notice certain nuances. This complexity is reflected in the various classifications provided by Orphanet.

      What are the origins and characteristics of rare diseases?

      While nearly all genetic diseases are rare diseases, not all rare diseases are genetic diseases. There are also very rare forms of infectious diseases, such as auto-immune diseases and rare cancers. To date, the cause remains unknown for many rare diseases.

      Rare diseases are serious, often chronic and progressive, diseases. For many rare diseases, signs may be observed at birth or in childhood, as is the case of proximal spinal muscular atrophy, neurofibromatosis, osteogenesis imperfecta, chondrodysplasia or Rett syndrome. However, over 50% of rare diseases appear during adulthood, such as Huntington diseases, Crohn disease, Charcot-Marie-Tooth disease, amyotrophic lateral sclerosis, Kaposi's sarcoma or thyroid cancer.

      What are the medical and social consequences of the rarity of these diseases?

      The field of rare diseases suffers from a deficit of medical and scientific knowledge. For a long time, doctors, researchers and policy makers were unaware of rare diseases and until very recently there was no real research or public health policy concerning issues related to the field. There is no cure for most rare diseases, but the appropriate treatment and medical care can improve the quality of life of those affected and extend their life expectancy. Impressive progress has already been made for certain diseases, which shows that we must not give up the fight, but on the contrary, continue and step up efforts in the fields of research and social solidarity.

      Those affected by these diseases all face similar difficulties in their quest for a diagnosis, relevant information and proper direction towards qualified professionals. Specific issues are equally raised regarding access to quality health care, overall social and medical support, effective liaison between hospitals and general practices, as well as professional and social integration and independence.

      Those affected by rare diseases are also more psychologically, socially, economically and culturally vulnerable. These difficulties could be overcome by appropriate policies. Due to the lack of sufficient scientific and medical knowledge, many patients are not diagnosed and their disease remains unidentified. These are the people who suffer the most from difficulties in receiving appropriate support.

      What progress is foreseen in the diagnosis and treatment of rare diseases?

      For all rare diseases, science can provide some answers. Hundreds of rare diseases can now be diagnosed through a biological sample test. Knowledge of the natural history of these diseases is improved by the creation of registries. Researchers are increasingly working through networks in order to share the results of their research and to advance more efficiently. New hopes arise with the perspectives offered by European and national policies in many European countries in the field of rare diseases.

      How can I obtain information about a specific disease?

      Orphanet provides an inventory of rare diseases and related information for over 6000 of these diseases, as well as a directory of expert resources in the countries of the consortium.

      Last update: 25/10/12

      About rare diseases policies

    • About orphan drugs

      What is an orphan drug ?

      The so-called 'orphan drugs' are intended to treat diseases so rare that sponsors are reluctant to develop them under usual marketing conditions.

      The process from the discovery of a new molecule to its marketing is long (10 years in average), expensive (several tens of millions of euros) and very uncertain (among ten molecules tested, only one may have a therapeutic effect). Developing a drug intended to treat a rare disease does not allow the recovery of the capital invested for its research.

      Orphan drugs may be defined as :

      Drugs that are not developed by the pharmaceutical industry for economic reasons but which respond to public health need.

      Actually, the indications of a drug may also be considered as ' orphan ' since a substance may be used in the treatment of a frequent disease but may not have been developed for another, more rare indication.

      In fact, three cases may arise :

      • Products intended to treat rare diseases :
        These products are developed to treat patients suffering from very serious diseases for which no treatment, or at least a satisfactory one, has so far been available. These diseases affect only a small proportion of the population (less than one person per 2,000 in Europe), most often at birth or in infancy. The number of rare diseases for which no treatment is currently available is estimated to be between 4,000 and 5,000 world-wide. Twenty-five to 30 million people are reported to be affected by these diseases in Europe.
      • Products withdrawn from the market for economic or therapeutic reasons :
        For example, thalidomide widely much used as a hypnotic drug some years ago and was then withdrawn from the market when its high teratogenic (triggering fetal malformations) risk was discovered. However this drug showed very interesting analgesic proprieties in diseases such as leprosy or lupus erythematosus. They are diseases for which no satisfactory treatment has been available.
      • Products that have not been developed :
        • either because they are derived from a research process that cannot be patented ;
        • or because they concern important markets which are, however, not creditworthy (see the text Orphan drugs for Third-World countries).

      Patients affected by rare diseases have to be informed about scientific and therapeutic progress. They have the same rights to care as any other patient. In order to stimulate research and development in the sector of orphan drugs, the authorities have implemented incentives for health and biotechnology industries. It started as early as 1983 in the United States with the adoption of the Orphan Drug Act, then in Japan and in Australia in 1993 and 1997. Europe followed in 1999 by implementing a common EU policy on orphan drugs.

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    • Quality charters

      Orphanet quality charter

      Orphanet is committed to maintain, update and develop an Internet information service dedicated to rare diseases and orphan drugs.
      Orphanet is committed to maintain an access that is both free and free of charge.

      Data collection and dissemination of information abide by the legal provisions in force in the countries concerned: the professional code of ethics, any law on computing and liberties, on intellectual property rights, electronic data protection and any law or regulation applicable.
      The French personal data protection committee (Commission Nationale de l'Informatique et des Libertés; CNIL) gave a favourable opinion for the creation of Orphanet on 5 May 1997. Whenever someone's name is mentioned, this person has given his/her authorisation to quote his/her name.

      The information disseminated and the services developed comply with the codes and recommendations issued by the ad hoc committees recognized at the national or international level, especially concerning respect of patients' rights, respect of the confidentiality of the information, the practice of on-line medicine, and the safety of networks.
      Up to now, the codes and charters to which Orphanet has adhered are the following :

      The database is under the supervision of a Management Board, a Steering Committee and an International Advisory Board and in some countries by a National Advisory Board. Data Collection, validation and publication is ruled by the Orphanet Standard Operating Procedures.
      All the information available to the public is validated by a member of the committee before it is put-on line.
      The inventory of rare diseases is updated once a month.
      The information in the directory of resources is updated once a year. The encyclopaedia is updated at various intervals: all texts mention the last update.

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    • Orphanet Reports series

      Orphanet Reports Series
      Orphanet reports are a series of texts covering topics relevant to all rare diseases. New reports are regularly put online and some of these texts are periodically updated.

    • Educational tools

      This service is currently only available in French

    • Medias

      Press release

      Orphanet launches a new version of its website

      Orphanet, the European information server on rare diseases and orphan drugs, is launching, a new version of its website to better serve its 20,000 daily users (www.orpha.net)

      The Orphanet website and database is managed by the SC11 department of the INSERM (French national medical research agency) and in part funded by this national institute, as well as by the French Ministry of Health (DGS) and the European Commission (Public Health Directorate General and Research Directorate General).

      The new version of the Orphanet website, the 4th one in its 11 years of existence, positions Orphanet as a real portal adapted to the diversity of its audience – one-third patients and their relatives and two-thirds health professionals, scientists, teachers and students. It provides access toan encyclopaedia of rare diseases and orphan drugs and to a directory of services in 35 countries, including information on expert centres, clinical expert laboratories, research activities and patients’ organisations.

      All the available Orphanet services are listed on the website’s homepage, accessible disponible in 5 languages : English, French, German, Italian and Spanish. A Portuguese version is expected. Navigation of the new site has been made easier to adequately guide first-time users who visit as they represent half of the website’s visitors.

      Orphanet’s database of rare diseases has been enhanced with new information on the epidemiology of the diseases (prevalence in the European population, age at onset), on their mode of inheritance, and on related genes, when applicable. These services were designed to meet the professional needs of researchers and the private sector involved in the development of new therapies for rare diseases.

      All entries in the disease database have been classified according to medical and scientific classifications, facilitating a query by general terms on the website. This service is unique in its kind and is expected to please all potential users.

      The information on clinical laboratories has been complemented with data on the quality management of the laboratories, to promote an increased standard of quality across Europe. This information was collected and validated by the EuroGenTest consortium, a network of excellence funded by the European Commission (DG research) (www.eurogentest.org).

      The information on orphan drugs has been enriched to provide information on the stage of development of a product from the time of its designation as orphan product by the EMEA until its market authorisation in Europe. Orphan drug designation is usually granted at the beginning of the clinical development phase. As such, the Orphanet website provides access to the list of on-going clinical trials and to all orphan indications of a designated molecule; a service strongly requested by patients.

      Orphanet in numbers
      Content of the database Statistics
      5,200 diseases 20,000 daily visitors
      1,233 clinical laboratories offering testing for 1 504 diseases from 170 countries
      2,003 research laboratories conducting conducting 4,198 projects on 2,040 diseases 35% are patients and families
      742 clinical trials 50% are health professionals
      283 registries 15% are teachers, students and media
      3,092 expert centres
      1,739 patients’ organisations
      10,302 professionals
      521 drugs with an indication for a rare disease
      Organisation
      Orphanet is run by a consortium of national teams based in Austria, Belgium, Bulgaria, Croatia, Cyprus, Czech Republic, Denmark, Estonia, Finland, France, Germany, Greece, Hungary, Ireland, Israel, Italy, Latvia, Lebanon, Lithuania, Luxembourg, Malta, Morocco, Netherlands, Norway, Poland, Portugal, Romania, Serbia, Slovakia, Slovenia, Spain, Sweden, Switzerland, Tunisia, Turkey and United-Kingdom. The consortium is coordinated by the French team
      Funding
      Orphanet was established in 1997 by the French Ministry of Health (Direction Générale de la Santé) and the INSERM (Institut National de la Santé et de la Recherche Médicale). Both agencies are still funding the core project.
      The European Commission is funding the encyclopaedia and the collection of data in European countries (since 2000 DG Public Health and Consumers Protection grants No S12.305098; S12.324970; SPC.2002269; 2003220; 2006119 and since 2004 DG Research grant No LSSM-CT-2004-503246; FP6-512148; LSHB-CT-2006-08933).
      Other sponsors are also funding Orphanet services:
      The French Muscular Dystrophy Association (Association Française contre les Myopathies; AFM) sponsors OrphaNews France.
      The French pharmaceutical companies association (Les Entreprises du Médicament; LEEM) sponsors the development of the OrphanXchange database and the collection of orphan drugs data.