SYNONIMS: Barraquer-Simons syndrome
ICD10 code: E88.1
ORPHANET number: ORPHA79087
For more information about this disease, please visit the Orphanet website. SYNONIMS: Louis Bar syndrome ICD10 code: G11.3 ORPHANET number: ORPHA100 For more information about this disease, please visit the Orphanet website. Visitors from North America may also contact NIH Office of Rare Diseases Research website. ————————————————————————— SYNONIMS: Arthrogriposis ICD10 code: – ORPHANET number: ORPHA658 For more information about this disease, please visit the Orphanet website. Visitors from North America may also contact NIH Office of Rare Diseases Research website. ————————————————————————— SYNONIMS: Quincke edema ICD10 code: T78.3 ORPHANET number: ORPHA658 For more information about this disease, please visit the Orphanet website. ————————————————————————— SYNONIMS: Charcot disease ICD10 code: G12.2 ORPHANET number: ORPHA803 For more information about this disease, please visit the Orphanet website. Visitors from North America may also contact NIH Office of Rare Diseases Research website. RARE DISEASES LIBRARY: You may find a detailed description of Amyotrophic lateral sclerosis in Issue 3 of “Rare Diseases & Orphan Drugs”. Click here to open the pdf-file (file size 690 KB). You can subscribe for our free e-newsletter by entering your e-mail here. ————————————————————————— SYNONIMS: Allagille-Watson syndrome ICD10 code: Q44.7 ORPHANET number: ORPHA52 For more information about this disease, please visit the Orphanet website. Visitors from North America may also contact NIH Office of Rare Diseases Research website. You can subscribe for our free e-newsletter by entering your e-mail here. ————————————————————————— -A- -B- -C- -D- -F- -G- -H- -I- -K- -L- -M- -N- -O- -P- -R- -S- -T- -V- -W- ————————————————————————— Description: Milestones Contacts: ————————————————————————— Project Duration – 20.04.2010 – 20.04.2013 (36 months) Instituto de Salud Carlos III (ISCIII), Spain Instituto Superiore di Sanita (ISS), Italy Federación Española de Enfermedades Raras (FEDER), Spain Bulgarian Association for Promotion of Education and Science (BAPES), Bulgaria London School of Economics and Political Science (LSE-Health), United Kingdom University Paris Val de Marne (UPVM), France Leibniz University Hannover (LUH), Germany The Swedish Institute for Health Economics (IHE), Sweden Universita Commerciale “Luigi Bocconi” (Bocconi), Italy Centre for Public Affairs Studies Foundation (CPASF), Hungary Mario Negri Institute for Pharmacological Research (IRFMN), Italy 7 Collaborating Partners from EU Project Objectives: – To define a methodological framework to measure the HRQOL of RD – To develop unified instruments to gather information on the socio-economic burden and HRQOL of RD throughout Europe – To perform a pilot study measuring the socio-economic burden and HRQOL for selected RD – To refine and package the tools developed for continued and more extensive costs and HRQOL studies of RD Project Outcomes: Background: Contacts for Further Information: Contact Person: Mobile phone number: 0898586258 E-mail: Description: Useful Materials (only in Bulgarian): All the materials are courtesy of the Porphyrias Unit at the Gastroenterolgy Clinic of the “St. Ivan Rilski” University Hospital, Sofia, Bulgaria! Contacts for further information: —————————————————————————
Visitors from North America may also contact
Last modification: 20:28 28.08.2010
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Last modification: 19:20 28.08.2010
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Visitors from North America may also contact NIH Office of Rare Diseases Research website.
Last modification: 20:52 28.08.2010
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Lou Gehrig disease
Last modification: 20:18 28.08.2010
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Arteriohepatic dysplasia
Syndromic bile duct paucity
Last modification: 20:16 28.08.2010
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– Gigantism
– Primary adrenocortical deficiency
– Acquired hypocortisolism
– Acquired chronic adrenal insufficiency
– Leukodystrophy with Rosenthal fibers
– Allagille-Watson syndrome
– Arteriohepatic dysplasia
– Syndromic bile duct paucity
– Charcot disease
– Lou-Gehrig disease
– Arthrogriposis
– Louis-Bar syndrome
– Neuronal ceroid lipofuscinosis
– Spielmeyer-Vogt disease
– X-linked agammaglobulinemia
– Bruton disease
– Bruton tyrosine kinase gene disease
– Cerebello-olivar atrophy
– Torticollis spastica
– Torticollis
– Spasmodic torticollis
– Hereditary Charcot-Marie-Tooth neuropathy
– Arnold-Chiari malformation
– Allergic granulomatosis
– Granulomatous small-vessel vasculitis
– Fibrin-stabilizing factor deficency
– Brachmann-de Lange syndrome
– Corticotroph pituitary adenoma
– Primary pigmented nodular adrenal disease
-E-
– Keratosis follicularis
– Dyskeratosis follicularis
– Darier-White disease
– Thymic hypoplasia
– CATCH22 syndrome
– 22q11.2 deletion syndrome
– Velocardiofacial syndrome
– Trisomy 21
– Pseudohypertrophic progressive muscular dystrophy, Duchenne type
– Landouzy-Déjérine disease
– Idiopathic basal ganglia calcification
– Bilateral striopallidodentate calcinosis
– Cerebrovascular ferrocalcinosis
– Early onset ataxia
– Beta-galactosidase-1 deficiency
– GLB1 deficiency
– Gene map locus 3p21.33
– Primary chronic sclerosing osteomyelitis
– Proliferative periostitis
– Sclerosing periostitis
– Sclerosing osteomyelitis
– Glucocerebrosidase deficiency
– Acid beta-glucosidase deficiency
– GBA deficiency
– Oculo-auriculo-vertebral anomaly
– Goldenhar-Gorlin syndrome
– Hemifacial microsomia
– Chronic benign familial pemphigus
– Lingua villosa
– Hashimoto struma
– Hashimoto hypothyroidism
– Eosinophilic granulomatosis
– Pulmonary Langerhans cell histiocytosis
– Nonlipid reticuloendotheliosis
– Hand-Schuller-Christian disease
– Letterer-Siwe disease
– N-acetylglutamate synthase deficiency
– Bladder pain syndrome
– 47 XXY syndrome
– Leyden-Moebius pelvofemoral muscular dystrophy
– Calpainopathy
– Thrombotic thrombocytopenic purpura
– Microangiopathic hemolytic anemia
– Familial thrombotic microangiopathy
– Upshaw-Schulman syndrome
– Schulman-Upshaw syndrome
– Upshaw factor deficiency
– Congenital microangiopathic hemolytic anemia
– Cystic fibrosis
– Disseminata sclerosis
– Erb-Goldflam disease
– Gelineau disease
– Von Recklinghausen disease
– Sphingomyelinase deficiency
– Male Turner syndrome
– Female Pseudo-Turner syndrome
– Turner phenotype with normal karyotype
– Barbeau disease
– Opsoclonus-myoclonus-ataxia syndrome
– Dancing eye syndrome
– Kinsbourne syndrome
– Paraneoplastic opsoclonus- myoclonus ataxia
– Dancing eyes-dancing feets syndrome
– Orotidylic decarboxylase deficiency
– Uridine monophosphate synthetase deficiency
– Lobstein disease
– Hyperkeratosis palmoplantaris with periodontosis
– Keratosis palmoplantaris with periodontopathia
– Palmoplantar keratoderma with periodontosis
– Progressive hemifacial atrophy
– Barraquer-Simons syndrome
– Menzel syndrome
– Nonne-Marie syndrome
– Sanger Brown syndrome
– “Jelly belly”
– Malignant large bowel cystadenocarcinoma
– Malignant large bowel peritoneal carcinomatosis
– Mucinous cystadenoma
– Mucinous cyst adenocarcinoma
– Mesodermal dysgenesis of iris and retina
– Hereditary spastic paraparesis
– Strumpell-Lorrain syndrome
– Jamieson disease
– Fistulous vegetative verrucous hydradenoma
– Disseminated lupus erythematosus
– Severe combined immunodeficiency
– Cooley anaemia
– Mediterranean anemia
– Gilles de la Tourette syndrome
– White spot disease
– Acquired leukoderma
– Depigmented skin
– Acrokeratotic poikiloderma with bullous atrophy
– Kindler syndrome
– Intestinal lipodystrophy
– Hepatolenticular degeneration
Last modification: 13:11 20.09.2010
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National registry of patients with thalassаemia major in Bulgaria is a project in the field of rare diseases which BAPES started in August 2008. Its aim is to establish an epidemiological tool to identify and follow up regularly the medical history of each patient. The registry will help doctors, scientists and health authorities to determine the incidence, prevalence, long-term clinical outcome and quality of life of Bulgarian patients with thalassаemia major. They will also be able to compare overall management of thalassаemia patients in Bulgaria with other countries. Moreover, this experience could be used as a model for starting registries for other rare diseases in the country.
The project is implemented as a result of the common work and cooperation between BAPES, ICRDOD, Medical Centre „RareDis“, Bulgarian Scientific Society of Clinical and Transfusion Hematology and regional transfusion hematology centres in Bulgaria.
_____Information at the beginning of the project (August 2008)
_____Certification of BAPES as personal data administrator by the State Agency for Data Privacy Protection (October 2009)
_____Preliminary results (January 2010)
_____Actual results (April 2010)
Help Line: (+359-32) 57 57 97
E-mail: miteva@raredis.org
Last modification: 11:29 17.06.2010
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12 Partners
Fundación Canaria de Investigación y Salud (FUNCIS), Spain
Total Budget: 1 175 044 euros
EAHC Co-Funding: 705 022 euros
Project Coordinator: Prof. Julio López Bastida, Fundación Canaria de Investigación y Salud (FUNCIS), Spain
Official Website – www.burqol-rd.com
– To generate a methodological framework to measure the socio-economic burden of RD
An integrated and harmonized set of instruments to assess and monitor socio-economic burden and HRQOL of patients affected by RD and their caregivers.
1. A detailed analysis of the services (health and social care) received by people with specific RD in different EU countries, including the identification of formal and informal care.
2. A report on the current socioeconomic and HRQOL status of RD patients and caregivers for the selected RD and EU countries.
3. The results and deliverables that emerge from this project will stimulate the future comparability and monitoring of RD in Europe as well as anticipate future information needs.
Because of their characteristics, rare diseases require the combined efforts of health and social care professionals, politicians, managers and researchers to increase the availability of effective disease management tools to improve care and to extend both life expectancy and Health Related Quality of Life (HRQOL). Given the nature and the goals of the BURQOL-RD project, it is clear that a fundamental beneficiary of the results of this project will be the families and caregivers of those affected by RD, a group that is often overlooked when considering such devastating diseases.
Help Line: (+359-32) 57 57 97
E-mail: iskrov@raredis.org
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Last modification: 12:50 09.06.2010
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Mrs. Neli Dirimanova – President
neli_dirimanova@abv.bg
The support group for porphyria is an informal non-profit, non-party, voluntary, independent association of people suffering from various types of porphyria and their families.
A specialized porphyrias unit is operating in Bulgaria, combining diagnosis, treatment and long-term monitoring of porphyrias patients. It was initiated in the 60’s of the previous century by Prof. Emil Ivanov. Since 1994, the unit has been working on a functional basis in the Gastroenterology Clinic at University Hospital “St. Ivan Rilski” in Sofia.
Порфирии – заглавие
Порфирии – указания за лекари
Порфирии – указания за пациенти
Програма за развитие на звеното по порфирии към Клиника по гастроентерология, УМБАЛ „ Св.Иван Рилски”
Контакти на звеното по порфирии
Assoc. Prof. Aneta Ivanova, MD, PhD
Mrs. Doroteya Leonkeva
Mrs. Ivayla Simeonova
“St. Ivan Rilski” University Hospital
Gastroenterology Clinic
Porphyrias Unit
15 Ivan E. Geshov Blvd
1431 Sofia, BULGARIA
phone/fax: (+359) 2 852 69 30
e-mail: sv.ivan_rilski_lvh@abv.bg
Last modification: 14:16 07.06.2010
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