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190 Resultado(s)

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Financiado por um membro do IRDiRC =

Registos e biobancos

ALEMANHA

Baden-Württemberg
HEIDELBERG

Financiado por um membro do IRDiRCERN [MetabERN] - UIMD: Unified European Registry for Inherited Metabolic DisordersUIMD: Unified European Registry for Inherited Metabolic Disorders
Zentrum für Kinder- und Jugendmedizin - Angelika-Lautenschläger-Klinik
Klinik für Kinderheilkunde I - Sektion für Neuropädiatrie und Stoffwechselmedizin

ALEMANHA

Baden-Württemberg
REUTLINGEN

RAMEDIS : Rare Metabolic Diseases Database
Kreiskliniken Reutlingen
Klinik für Kinder- und Jugendmedizin

ALEMANHA

Baden-Württemberg
REUTLINGEN

RAMEDIS : Rare Metabolic Diseases mutation Database
Kreiskliniken Reutlingen
Klinik für Kinder- und Jugendmedizin

AUSTRIA

TIROL
INNSBRUCK

Austrian registry for inborn errors of metabolism
Medizinische Universität Innsbruck
Pädiatrie I

BELGICA

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Central Registry of Rare Diseases (CRRD)
Sciensano
Health Services Research - Rare Diseases

ESPANHA

Andalucía
SEVILLA

Registry for rare diseases in Andalusia (Spain)
Junta de Andalucía. Consejería de Salud y Bienestar Social
Dirección General de Calidad, Investigación y Gestión del Conocimiento

ESPANHA

Aragón
ZARAGOZA

Rare disease registry of Aragon (Spain)
Gobierno de Aragón. Departamento de Sanidad, Bienestar Social y Familia
Servicio de Evaluación y Acreditación Sanitaria

ESPANHA

Baleares
PALMA DE MALLORCA

Population registry of rare diseases of Balearic Islands (Spain)
Govern de les Illes Balears. Dirección General de Salud Pública y Consumo
Servicio de Epidemiología

ESPANHA

Baleares
PALMA DE MALLORCA

Population registry of rare diseases of Balearic Islands (Spain)
Govern de les Illes Balears. Dirección General de Salud Pública y Consumo
Dirección General de Salud Pública y Consumo

ESPANHA

Cantabria
SANTANDER

Population registry of rare diseases and congenital anomalies of Cantabria (Spain)
Gobierno de Cantabria. Consejería de Sanidad y Servicios Sociales
Servicio de Atención Sanitaria

ESPANHA

Cataluña
ESPLUGUES DE LLOBREGAT

Biobank of the Sant Joan de Déu Children's Hospital for Research (BHISJDI)
Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu
Biobanco del Hospital Infantil Sant Joan de Déu para la investigación

ESPANHA

Comunidad Valenciana
VALENCIA

SIER-CV: Information System on rare diseases in Valencian Community (Spain)
FISABIO - Salud Pública
Área de Enfermedades Raras

ESPANHA

Extremadura
MÉRIDA

Registry for rare diseases in Extremadura (Spain)
Junta de Extremadura. Servicio Extremeño de Salud
Subdirector de Epidemiología

ESPANHA

Galicia
SANTIAGO DE COMPOSTELA

RERGA: Registry for rare diseases in Galicia (Spain)
Servicio Gallego de Salud
Servicio de Análisis y Evaluación Asistencial

ESPANHA

Madrid
MADRID

SIERMA: Information system on rare diseases in Madrid (Spain)
Comunidad de Madrid. Subdirección de Promoción y Prevención de la Salud
Subdirección de Promoción y Prevención de la Salud

ESPANHA

Madrid
MADRID

ReeR: Spanish National Registry of Rare Diseases
ISCIII - Instituto de Salud Carlos III
Instituto de Investigación de Enfermedades Raras

ESPANHA

Murcia
MURCIA

SIERrm: Information System on rare diseases in the Region of Murcia (Spain)
Región de Murcia. Consejería de Sanidad y Política Social
Servicio de Planificación y Financiación Sanitaria

ESPANHA

Navarra
PAMPLONA

Population registry of rare diseases of Navarra (Spain)
Instituto de Salud Pública y Laboral de Navarra
Sección de Epidemiología de Enfermedades No Transmisibles

FRANCA

ILE-DE-FRANCE
PARIS

French National Registry for Rare Diseases (BNDMR)
AP-HP Campus Picpus - Département WIND (Web Innovation Données)
Banque Nationale de Données Maladies Rares (BNDMR)

PAISES BAIXOS

Utrecht
UTRECHT

DDRMD - Dutch Diagnosis Registration Metabolic Diseases
UMC Utrecht - Universitair Medisch Centrum Utrecht
Afdeling Metabole Ziekten

AUSTRIA

TIROL
INNSBRUCK

Austrian Country Node of the Human Variome Project (HVP)
Medizinische Universität Innsbruck
Zentrum Medizinische Genetik Innsbruck

BELGICA

VLAAMS BRABANT
LEUVEN

EUROGLYCANET - International patient registry and cohort for congenital disorders of glycosylation
University Hospitals Leuven - Gasthuisberg
Department of Human Genetics

COREIA DO SUL

KOREA, REPUBLIC OF
SEOUL

Financiado por um membro do IRDiRCKorean Mutation Database for Rare Diseases
Seoul National University Hospital
Molecular Diagnostics Laboratory

DINAMARCA

Sjælland
COPENHAGEN

Mendelian cytogenetics network online database
The Panum Institute-University of Copenhagen
Department of Cellular and Molecular Medicine

ESPANHA

Comunidad Valenciana
VALENCIA

CIBERER Biobank (Biobank of rare diseases)
IIS La Fe - Instituto de Investigación Sanitaria La Fe
Grupo de investigación en biomedicina molecular, celular y genómica

ESPANHA

Comunidad Valenciana
VALENCIA

CIBERER Biobank (Biobank of rare diseases)
INCLIVA
Grupo de investigación en Fisiopatología celular y orgánica del estrés oxidativo

ESPANHA

Madrid
MADRID

BioNER: Biobank of the Institute of Rare Diseases Research/Institute of Health Carlos III
ISCIII - Instituto de Salud Carlos III
Instituto de Investigación de Enfermedades Raras

ESPANHA

País Vasco
BARAKALDO

Financiado por um membro do IRDiRCBasque Biobank
BIOEF - Fundación Vasca de Innovación e Investigación Sanitarias
Biobanco Vasco

ESTONIA

Tartu
TARTU

Biobank of the Estonian Genome Centre
Institute of Genomics of University of Tartu
The Estonian Genome Centre

ITALIA

LIGURIA
GENOVA

Cell line and DNA Biobank from patients affected by genetic diseases
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Centro di diagnostica genetica e biochimica delle malattie metaboliche

ITALIA

LIGURIA
GENOVA

Financiado por um membro do IRDiRCTelethon Network of Genetic Biobanks
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Centro di diagnostica genetica e biochimica delle malattie metaboliche

MARROCOS

Rabat
RABAT

Moroccan National Genetic Database
Institut National d'Hygiène
Département de génétique médicale

PAISES BAIXOS

Noord-Holland
AMSTERDAM

Biobank Lysosomal Storage Diseases (plasma/serum/peripheral blood cells/fibroblasts/urine)
Amsterdam UMC, locatie AMC
Afdeling Endocrinologie en Metabolisme

ALEMANHA

Baden-Württemberg
HEIDELBERG

iNTD (International Working Group on Neurotransmitter Related Disorders) Registry
Dietmar-Hopp-Stoffwechselzentrum
Klinik für Kinderheilkunde I - Stoffwechsellabor

ALEMANHA

Bayern
MÜNCHEN

mitoREGISTRY: Registry for patients with mitochondrial diseases - subproject of mitoNET
Friedrich-Baur-Institut
Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik

ALEMANHA

Bayern
MÜNCHEN

ALEMANHA

Bayern
MÜNCHEN

MitoP2: Mitochondrial Proteome Database for mitochondria-related genes, proteins and diseases
Institut für Humangenetik der TU München
Institut für Humangenetik

ALEMANHA

Bayern
MÜNCHEN

mitoSAMPLE: Biobank for mitochondrial diseases - subproject of mitoNET
Institut für Humangenetik der TU München
Institut für Humangenetik

ALEMANHA

Hamburg
HAMBURG

NCL-Registry: International neuronal ceroid lipofuscinoses patient registry
UKE - Universitätsklinikum Hamburg-Eppendorf
Arbeitsgruppe Degenerative Gehirnkrankheiten

ALEMANHA

Nordrhein-Westfalen
MÜNSTER

ALEMANHA

Rheinland-Pfalz
MAINZ

German mucopolysaccharidosis patient registry
Universitätsmedizin Mainz
Villa Metabolica - Schwerpunktbereich angeborene Stoffwechselerkrankungen

ALEMANHA

Saarland
HOMBURG

German alpha-1 antitrypsin deficiency registry - contributes to the Alpha One International Registry (AIR)
Universitätsklinikum des Saarlandes
Klinik für Innere Medizin V - Pneumologie, Allergologie, Beatmungs- und Umweltmedizin

AUSTRIA

WIEN
WIEN

Austrian alpha-1 antitrypsin deficiency registry - contributes to the Alpha One International Registry (AIR)
Wilhelminenspital
2. Medizinische Abteilung mit Pneumologie mit Ambulanz, Pavillon 26

BELGICA

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Belgian alpha-1 antitrypsin deficiency registry - contributes to the Alpha One International Registry (AIR)
Centre hospitalier Etterbeek-Ixelles - IRIS Sud
Département de médecine interne

ESPANHA

Cataluña
BARCELONA

NMD-ES: Mitochondrial Diseases Registry
Hospital de la Santa Creu i Sant Pau
Servicio de Neurología

ESPANHA

Cataluña
BARCELONA

Spanish alpha-1 antitrypsin deficiency registry (REDAAT) - contributes to the Alpha One International Registry (AIR)
SEPAR - Sociedad Española de Neumología y Cirugía Torácica
Sociedad Española de Neumología y Cirugía Torácica

ESPANHA

Cataluña
ESPLUGUES DE LLOBREGAT

NMD-ES: Mitochondrial Diseases Registry
Hospital Sant Joan de Déu Barcelona
Unidad de Enfermedades Metabólicas Congénitas

ESTADOS UNIDOS

California
IRVINE

MITOMAP: A human mitochondrial genome database. A compendium of polymorphisms and mutations of the human mitochondrial DNA
University of California
Center for molecular and mitochondrial medicine & genetics

FRANCA

ILE-DE-FRANCE
PARIS

Financiado por um membro do IRDiRCRaDiCo-MPS: National cohort on Mucopolysaccharidosis in the era of specific therapeutics
CHU Paris Est - Hôpital d'Enfants Armand-Trousseau
Service de Neuropédiatrie - Unité de neuropédiatrie et pathologie du développement

FRANCA

ILE-DE-FRANCE
PARIS

French registry of hereditary dyslipidemia in children: familial combined dyslipidemias
CHU Paris Est - Hôpital d'Enfants Armand-Trousseau
Service de Nutrition et Gastroentérologie Pédiatriques

HUNGRIA

Dél-Dunántúl
PECS

Mitochondrial DNA disorders biobank
Clinical Center - University of Pécs
Department of Medical Genetics

ITALIA

LAZIO
ROMA

Financiado por um membro do IRDiRCEIMD: European registry and network for intoxication type metabolic diseases
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
U.O.C. di Patologia Metabolica

ITALIA

LAZIO
ROMA

Financiado por um membro do IRDiRCMITOCON: National registry mitochondrial disease
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
Unità di Malattie Neuromuscolari e Neurodegenerative - Laboratorio di Medicina Molecolare

ITALIA

LOMBARDIA
MILANO

Cell Line and DNA Bank of Paeditric Movement Disorders
Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
U.O. di Neurogenetica Molecolare

ITALIA

LOMBARDIA
PAVIA

ITALIA

TOSCANA
PISA

Financiado por um membro do IRDiRCMITOCON: National registry mitochondrial disease
Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
Laboratorio di Neurobiologia Clinica e Neurochimica

PAISES BAIXOS

Zuid-Holland
LEIDEN

PORTUGAL

SUL
LISBOA

Registro de défice de alfa-1 antitripsina
Sociedade Portuguesa de Pneumologia

REINO UNIDO

Buckinghamshire
AMERSHAM

UK mucopolysaccharidosis registry
MPS House
The Society for Mucopolysaccharide Diseases

REINO UNIDO

Greater London
LONDON

Batten Disease Neuronal Ceroid Lipofuscinosis (NCL) Patient Registry
UCL University College London
MRC Laboratory for Molecular Cell Biology

REINO UNIDO

West Midlands
BIRMINGHAM

SUECIA

Skane
MALMÖ

Swedish alpha-1 antitrypsin deficiency registry - contributes to the Alpha One International Registry (AIR)
University Hospital MAS - Lund University
Department of respiratory medicine and allergology

SUICA

Suisse Alémanique
ZÜRICH

SUICA

Suisse Romande
LAUSANNE

Swiss registries for Interstitial and Orphan Lung Diseases (SIOLD Registries)
Centre Hospitalier Universitaire Vaudois CHUV
Swiss registries for Interstitial and Orphan Lung Diseases

ALEMANHA

Baden-Württemberg
HEIDELBERG

Financiado por um membro do IRDiRCEIMD: European registry and network for intoxication type metabolic diseases
Zentrum für Kinder- und Jugendmedizin - Angelika-Lautenschläger-Klinik
Klinik für Kinderheilkunde I - Sektion für Neuropädiatrie und Stoffwechselmedizin

ALEMANHA

Baden-Württemberg
ULM

German paroxysmal nocturnal hemoglobinuria registry
DRK Baden-Württemberg/ Hessen
Institut für Klinische Transfusionsmedizin und Immungenetik Ulm

ALEMANHA

Bayern
MÜNCHEN

MD-NET: Muscle Tissue Culture Collection (MTCC) (EuroBioBank partner)
Friedrich-Baur-Institut
Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik

ALEMANHA

Hamburg
HAMBURG

Financiado por um membro do IRDiRCMucopolysaccharidosis type 1 (MPS I) Registry - DE
UKE - Universitätsklinikum Hamburg-Eppendorf
Klinik und Poliklinik für Kinder- und Jugendmedizin

ALEMANHA

Hamburg
HAMBURG

Financiado por um membro do IRDiRCInternational Collaborative Gaucher Group (ICGG) Gaucher Registry - DE
UKE - Universitätsklinikum Hamburg-Eppendorf
Klinik und Poliklinik für Kinder- und Jugendmedizin

ALEMANHA

Hamburg
HAMBURG

Financiado por um membro do IRDiRCFabry Disease Registry -DE
UKE - Universitätsklinikum Hamburg-Eppendorf
Klinik und Poliklinik für Kinder- und Jugendmedizin

ALEMANHA

Hamburg
HAMBURG

Financiado por um membro do IRDiRCPompe Disease Registry - DE
UKE - Universitätsklinikum Hamburg-Eppendorf
Klinik und Poliklinik für Kinder- und Jugendmedizin

ALEMANHA

Hamburg
HAMBURG

Hunter Outcome Survey (HOS): patient registry - DE
UKE - Universitätsklinikum Hamburg-Eppendorf
Klinik und Poliklinik für Kinder- und Jugendmedizin

ALEMANHA

Hessen
GIEßEN

Mutation Database Retina International: CLN3 Gene
Augenklinik des UKGM am Standort Gießen
Labor für molekulare Ophthalmologie - Klinik und Poliklinik für Augenheilkunde

ALEMANHA

Hessen
GIEßEN

Mutation Database Retina International: Palmitoyl-Protein Thioesterase Gene (PPT CLN1) Gene
Augenklinik des UKGM am Standort Gießen
Labor für molekulare Ophthalmologie - Klinik und Poliklinik für Augenheilkunde

ALEMANHA

Nordrhein-Westfalen
BONN

Patient registry for primary hyperoxaluria - contributes to the OxalEurope-Network
Universitäts-Kinderklinik Bonn
Kindernephrologie Bonn

AUSTRALIA

Western Australia
MURDOCH

Financiado por um membro do IRDiRCGaucher disease registry model
Murdoch University
Centre for Comparative Genomics (CCG)

BELGICA

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

EUNEFRON: registry of the European network for the study of orphan nephropathies
Cliniques Universitaires UCL Saint-Luc
Laboratory of Nephrology

BULGARIA

 South Central region
PLOVDIV

National registry of patients with Gaucher disease - BG
BAPES - Bulgarian Association for Promotion of Education and Science
Information Centre for Rare Diseases and Orphan Drugs

BULGARIA

 South Central region
PLOVDIV

National registry of patients with mucopolysaccharidosis type II (MPS2) - BG
BAPES - Bulgarian Association for Promotion of Education and Science
Information Centre for Rare Diseases and Orphan Drugs

ESPANHA

Aragón
ZARAGOZA

REEG: Spanish Gaucher's disease registry
Fundación Española para el estudio y terapéutica de la enfermedad de Gaucher

ESPANHA

Asturias
OVIEDO

Financiado por um membro do IRDiRCRenalTube: Database of patients with primary tubulopathies
Hospital Universitario Central de Asturias
Servicio de Pediatría

ESPANHA

Castilla - León
SALAMANCA

National DNA Bank: Rare diseases sample collection
Centro de Investigación del Cáncer (USAL-CSIC)
Banco Nacional de ADN

ESPANHA

Cataluña
BARCELONA

NMD-ES: Pompe Disease Registry
Hospital de la Santa Creu i Sant Pau
Servicio de Neurología

ESPANHA

Cataluña
BARCELONA

Financiado por um membro do IRDiRCEUROMAC: Registry of patients affected by McArdle Disease
Vall d'Hebron Institut de Recerca VHIR
Grupo de investigación en patología neuromuscular y mitocondrial

ESPANHA

Madrid
MADRID

Spanish registry of patients with McArdle disease
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en Enfermedades Raras, Mitocondriales y Neuromusculares

ESPANHA

Madrid
VILLAVICIOSA DE ODÓN

Spanish registry of patients with McArdle disease
Universidad Europea de Madrid. Facultad de Ciencias de la Salud
Laboratorio de Fisiología del Ejercicio

ESPANHA

País Vasco
DERIO

Human Uroporphyrinogen III Synthase mutant collection
Centro de Investigación Cooperativa en Biociencias (CIC bioGUNE)
Centro de Investigación Cooperativa en Biociencias

ESPANHA

País Vasco
DERIO

Human Uroporphyrinogen III Synthase mutant collection
Centro de Investigación Cooperativa en Biociencias (CIC bioGUNE)
Unidad de Biología Estructural

ESTADOS UNIDOS

Arizona
TUCSON

International Morquio A registry
The Carol Ann Foundation & The International Morquio Organization

ESTADOS UNIDOS

California
LA JOLLA

Cure Cystinosis International Registry
University of California San Diego
Departement of Pediatrics

ESTADOS UNIDOS

Illinois
CHICAGO

PNH Registry: Paroxysmal Nocturnal Hemoglobinuria registry
ICON Clinical Research - Lifecycle science group
ICON Clinical Research

ESTADOS UNIDOS

Massachusetts
CAMBRIDGE

FOS : Fabry Outcome Survey
Shire Human Genetics Therapies, Inc.

ESTADOS UNIDOS

Massachusetts
CAMBRIDGE

HOS : Hunter Outcome Survey
Shire Human Genetics Therapies, Inc.

ESTADOS UNIDOS

Minnesota
ROCHESTER

International registry for primary hyperoxaluria
Mayo Clinic
Department of Medical Genetics

FRANCA

ILE-DE-FRANCE
CLICHY

French certified registry of patients affected by Gaucher disease
CHU Paris Nord-Val de Seine - Hôpital Beaujon
Service de médecine interne

FRANCA

ILE-DE-FRANCE
PARIS

FROG: FRench Observatory on Gaucher disease
Actelion Pharmaceuticals France SAS

FRANCA

ILE-DE-FRANCE
PARIS

European LeukoDataBase
CHU Paris - Hôpital Robert Debré
Centre de référence des leucodystrophies

FRANCA

ILE-DE-FRANCE
PARIS

Financiado por um membro do IRDiRCRaDiCo-ECYSCO: European cystinosis cohort
Hôpital Necker-Enfants Malades
Service de Néphrologie-Dialyse Adulte

FRANCA

ILE-DE-FRANCE
PARIS

French cystinosis registry
Hôpital Necker-Enfants Malades
Service de néphrologie pédiatrique

FRANCA

ILE-DE-FRANCE
PARIS

French certified registry of glycogen storage disease type 2
Institut de Myologie - Hôpital Pitié-Salpêtrière
Unité clinique de pathologie neuromusculaire

IRLANDA

County Dublin
DUBLIN

Hunter Outcome Survey (HOS): patient registry
Children's University Hospital
National Centre for Inherited Metabolic Disorders

IRLANDA

County Dublin
DUBLIN

Financiado por um membro do IRDiRCIrish Registry for homocystinurias and methylation defects - contributes to E-HOD
Children's University Hospital
National Centre for Inherited Metabolic Disorders

IRLANDA

County Dublin
DUBLIN

Irish Galactosemia Registry - contributes to European Galactosemia Patient Registry
Mater Misericordiae Hospital
National Centre for Inherited Metabolic Disorders - Adult Services

ITALIA

CAMPANIA
NAPOLI

International Registry of congenital dyserythropoietic anemia II
Biotecnologie Avanzate Srl
Area Funzionale di Genetica Medica

ITALIA

LIGURIA
GENOVA

Galliera Genetic Bank
Ospedali Galliera
Dipartimento di Scienze genetiche, Perinatali e Ginecologiche

ITALIA

TOSCANA
FIRENZE

Italian registry of hypertrophic cardiomyopathy in Anderson-Fabry disease
AOU Careggi
Dipartimento Cuore e Vasi - Cardiologia generale 1

ITALIA

TOSCANA
FIRENZE

Biogene- Biobank of biological material from patients affected by genetic diseases
Azienda Ospedaliero Universitaria Careggi
S.O.D. Diagnostica Genetica

ITALIA

TOSCANA
PISA

Italian Registry of Kernicterus and hyperbilirubinemia
Fondazione "Gabriele Monasterio" - Consiglio Nazionale delle Ricerche CNR
Fondazione Toscana Gabriele Monasterio

NORUEGA

Vestlandet
BERGEN

Norvegian Porphyria Registry
Haukeland University Hospital
Medisinsk biokjemi og farmakologi

PAISES BAIXOS

Limburg
MAASTRICHT

Galactosemia Patient Registry - part of the Galactosemia Network
AZM - Academisch Ziekenhuis Maastricht
Afdeling Kindergeneeskunde

PAISES BAIXOS

Noord-Holland
AMSTERDAM

Dutch patient registry for Fabry disease
Amsterdam UMC, locatie AMC
Afdeling Endocrinologie en Metabolisme

PAISES BAIXOS

Noord-Holland
AMSTERDAM

Dutch patient registry for Niemann-Pick Disease Type B
Amsterdam UMC, locatie AMC
Afdeling Endocrinologie en Metabolisme

PAISES BAIXOS

Noord-Holland
AMSTERDAM

Dutch patient registry for Gaucher disease
Amsterdam UMC, locatie AMC
Afdeling Endocrinologie en Metabolisme

PAISES BAIXOS

Noord-Holland
AMSTERDAM

PAISES BAIXOS

Noord-Holland
NAARDEN

PAISES BAIXOS

Noord-Holland
NAARDEN

The intenational Pompe registry
Genzyme Europe B.V.

PAISES BAIXOS

Noord-Holland
NAARDEN

The international Fabry registry
Genzyme Europe B.V.

PAISES BAIXOS

Noord-Holland
NAARDEN

The international Mps I registry
Genzyme Europe B.V.

PORTUGAL

NORTE
PORTO

MitoBreak: Base de dados de pontos de quebra no DNA mitocondrial
CIIMAR - Interdisciplinary Centre of Marine and Environmental Research

REINO UNIDO

Oxfordshire
OXFORD

UK10K RARE CHD - Congenital heart disease variant database
The Wellcome Trust Centre for Human Genetics
Division of Cardiovascular Medicine

REINO UNIDO

West Midlands
BIRMINGHAM

Financiado por um membro do IRDiRCEIMD: European registry and network for intoxication type metabolic diseases
Birmingham Children's Hospital NHS Foundation Trust
Department of Clinical Inherited Metabolic Disorders

REINO UNIDO

West Midlands
BIRMINGHAM

Financiado por um membro do IRDiRCInternational Niemann-Pick Disease Registry
Queen Elizabeth Hospital
Inherited Metabolic Disorders

SUECIA

Skane
LUND

NPbase: Mutation registry for PNP deficiency
Lund University
Department of Experimental Medical Science

SUICA

Suisse Alémanique
BERN

Swiss Paediatric Renal Registry
Institute of Social and Preventive Medicine (ISPM)

ALEMANHA

Baden-Württemberg
TÜBINGEN

Niemann-Pick Type C Disease Gene Variation Database
Institut für Medizinische Genetik und angewandte Genomik Tübingen
Institut für Medizinische Genetik und angewandte Genomik

ALEMANHA

Baden-Württemberg
TÜBINGEN

GeNeMove: CP2 Central DNA-Bank
Institut für Medizinische Genetik und angewandte Genomik Tübingen
Institut für Medizinische Genetik und angewandte Genomik

ALEMANHA

Hessen
MARBURG

GeNeMove: German database for wilson disease
Universitätsklinikum Gießen und Marburg GmbH, Standort Marburg
Klinik und Poliklinik für Neurologie

BELGICA

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Belgian patient database for Wilson disease - contributes to the EuroWilson registry (terminated)
Cliniques Universitaires UCL Saint-Luc
Service de gastro-entérologie et hépatologie pédiatrique

BULGARIA

 South Central region
PLOVDIV

National registry of patients with Wilson disease - BG
BAPES - Bulgarian Association for Promotion of Education and Science
Information Centre for Rare Diseases and Orphan Drugs

BULGARIA

 South-West region
SOFIA

National registry of patients with phenylketonuria - BG
University hospital of Obstetrics and Gynecology
Laboratory of molecular pathology - National Genetics Laboratory

DINAMARCA

Sjælland
COPENHAGEN

The PKU biobank as a national research source
Statens Serum Institut
Department of clinical biochemistry

ESPANHA

Madrid
MADRID

AKUdatabase: Homogentisate 1,2 Dioxygenase Locus (HGO) Mutation and Polymorphism Database Home Page (project terminated)
Centro de Investigaciones Biológicas (CSIC)
Departamento de Medicina Celular y Molecular

ESTADOS UNIDOS

California
SAN FRANCISCO

Sjogren's International Collaborative Clinical Alliance registry
University of California
Department of Orofacial Sciences

ESTADOS UNIDOS

Georgia
ATLANTA

CMDIR: congenital muscular dystrophy international registry
Emory University
Woodruff Health Sciences Center

FRANCA

HAUTS-DE-FRANCE
LOMME

French registry of tetrahydrobiopterin deficiencies
Hôpital Saint-Philibert
Laboratoire de biochimie

FRANCA

ILE-DE-FRANCE
PARIS

UMD ATP7B (ATPase, Cu++ transporting, beta polypeptide) mutations database
Hôpital Necker-Enfants Malades
Biochimie métabolomique et protéomique

FRANCA

OCCITANIE
MONTPELLIER

Registry of hereditary Haemochromatosis of the Languedoc Roussillon (including rare forms non-HFE hemochromatosis)
CHU de Montpellier - Hôpital Saint-Eloi
Département d'Hématologie biologique

ITALIA

EMILIA ROMAGNA
BOLOGNA

REM: Multiple Osteochondromas Registry
Istituto Ortopedico Rizzoli - Centro di Ricerca e Poliambulatorio
Laboratorio di Genetica Molecolare - S.S.D. di Genetica Medica e Malattie Rare Ortopediche

ITALIA

EMILIA ROMAGNA
BOLOGNA

Biorepsitory of tissue and blood samples, lymphocytes and DNA from patients affected by solitary/multiple osteochondroma and peripheral chondrosarcoma
Istituto Ortopedico Rizzoli - Centro di Ricerca e Poliambulatorio
Laboratorio di Genetica Molecolare - S.S.D. di Genetica Medica e Malattie Rare Ortopediche

ITALIA

EMILIA ROMAGNA
BOLOGNA

BIOGEN: Diagnostic and research genetic Biobank
Istituto Ortopedico Rizzoli - Centro di Ricerca e Poliambulatorio
Laboratorio di Genetica Molecolare - S.S.D. di Genetica Medica e Malattie Rare Ortopediche

ITALIA

SICILIA
CATANIA

EUROWILSON: Registry and network to improve the management of Wilson Disease
Presidio Ospedaliero Garibaldi-Nesima
Servizio di Genetica Medica - Centro di Riferimento per la Prevenzione, la Diagnosi e la Cura delle Malattie Genetiche Rare

ITALIA

VENETO
PADOVA

NORUEGA

Nord-Norge
TROMSØ

HUE-MAN patient registry on alpha mannosidosis
UNN - Universitetssykehuset Nord-Norge
Department of medical genetics

NORUEGA

Nord-Norge
TROMSØ

HUE-MAN mutation registry on alpha mannosidosis
UNN - Universitetssykehuset Nord-Norge
Department of medical genetics

NORUEGA

Nord-Norge
TROMSØ

HUE-MAN biobank on alpha mannosidosis
UNN - Universitetssykehuset Nord-Norge
Department of medical genetics

NORUEGA

Vestlandet
BERGEN

European Porphyria Registry (EPR)
Haukeland University Hospital
Medisinsk biokjemi og farmakologi

PAISES BAIXOS

Gelderland
NIJMEGEN

Radboud Biobank - Iron Biobank (cell lines, DNA, serum and urine)
Radboudumc - Radboud universitair medisch centrum
Translationeel Metabool Laboratorium

PAISES BAIXOS

Noord-Holland
AMSTERDAM

Dutch patient registry for Niemann-Pick Disease Type C
Amsterdam UMC, locatie AMC
Afdeling Endocrinologie en Metabolisme

PAISES BAIXOS

Noord-Holland
AMSTERDAM

The ALD Connect Patient Portal
Amsterdam UMC, locatie AMC
Laboratorium Genetische Metabole Ziekten

PAISES BAIXOS

Noord-Holland
NAARDEN

POLONIA

Lodz
LODZ

Registry for Wolfram syndrome, Astrom syndrome, Bardet-Biedl syndrome and other rare diabetes syndromes contributing do EURO-WABB
Uniwersytecki Szpital Kliniczny nr 4 im. Marii Konopnickiej
Pracownia Immunopatologii I Genetyki - Laboratory of Immunopathology and Genetics

POLONIA

Lodz
LODZ

Registry for Wolfram syndrome, Astrom syndrome, Bardet-Biedl syndrome and other rare diabetes syndromes contributing do EURO-WABB
Uniwersytecki Szpital Kliniczny nr 4 im. Marii Konopnickiej
Departament of Pediatrics, Oncology, Hematology and Diabetology

REINO UNIDO

Greater Manchester
MANCHESTER

Registry for Patients with Niemann-Pick Type C Disease
St Mary's Hospital
Manchester Cente for Genomic Medicine

REINO UNIDO

South Yorkshire
SHEFFIELD

EURO WILSON: Creating a European Clinical Database and designing randomised controlled clinical trials for Wilson disease - UK
The Sheffield Children's Hospital
Sheffield Children's Hospital (Division of Child Health)

REINO UNIDO

Tyne & Wear
NEWCASTLE UPON TYNE

Global FKRP registry (Global Fukutin-Related Protein defects registry) - Part of TREAT-NMD Alliance
Institute of Genetic Medicine - International Centre for Life
Global FKRP Registry

REINO UNIDO

Tyne & Wear
NEWCASTLE UPON TYNE

Global FKRP registry (Global Fukutin-Related Protein defects registry) - Part of TREAT-NMD Alliance
Newcastle upon Tyne Hospitals NHS Trust
John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine

REINO UNIDO

Tyne & Wear
NEWCASTLE-UPON-TYNE

United Kingdom Primary Sjogren's Syndrome Registry
Faculty of Medical Sciences Newcastle University
Musculoskeletal Research Group Institute of Cellular Medicine

SUECIA

Skane
LUND

TAZbase: Mutation registry for Barth syndrome
Lund University
Department of Experimental Medical Science

SUECIA

Skane
LUND

TCN2base: Mutation registry for Transcobalamin II deficiency
Lund University
Department of Experimental Medical Science

SUICA

Suisse Alémanique
ZÜRICH

BH4: international mutation registry of tetrahydrobiopterin deficiency
Universitäts - Kinderspital Zürich - Eleonorenstiftung
University Children's Hospital

CANADA

Colombie-Britannique
VANCOUVER

Glomerulonephritis Registry
Centre for Health Evaluation and Outcome Sciences (CHEOS)
Department of Nephrology

FRANCA

BRETAGNE
RENNES

French registry of Iron overload genetic rare diseases, non-related to the HFE gene
CHU de Rennes - Hôpital Pontchaillou
Service des maladies du foie

ITALIA

PIEMONTE
NOVARA

BIODEF-International Database of tetrahydrobiopterin Deficiencies
Università degli Studi del Piemonte Orientale
Laboratorio di Patologia Genetica

REINO UNIDO

Greater London
LONDON

UK10K_RARE_HYPERCHOL - Familial Hypercholesterolemia variant database
UCL University College London, Bloomsbury Campus - Rayne Building
Centre for Cardiovascular Genetics

ALEMANHA

Hessen
GIEßEN

Mutation Database Retina International: Optic Atrophy 1 Gene (OPA1)
Augenklinik des UKGM am Standort Gießen
Labor für molekulare Ophthalmologie - Klinik und Poliklinik für Augenheilkunde

FRANCA

PAYS DE LA LOIRE
ANGERS

eOPA1: mutations registry of OPA1 gene (Optic atrophy 1)
CHU d'Angers
UF de Biologie Moléculaire

REINO UNIDO

Nottinghamshire
NOTTINGHAM

Ataxia-Telangiectasia Society
William Whitehouse
Pediatric Neurology Department

REINO UNIDO

Tyne & Wear
NEWCASTLE UPON TYNE

International A-T Registry
Newcastle upon Tyne Hospitals NHS Trust
John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine

Redes de registos e biobancos

ESPANHA

Madrid
MADRID

SpainRDR: Spanish Rare Disease Registries Research Network (patient registries)
  • ISCIII - Instituto de Salud Carlos III
  • Instituto de Investigación de Enfermedades Raras
  • ITALIA

    LIGURIA
    GENOVA

    TELETHON NETWORK OF GENETIC BIOBANKS
  • IRCCS Istituto G. Gaslini - Ospedale Pediatrico
  • Centro di diagnostica genetica e biochimica delle malattie metaboliche
  • ALEMANHA

    Baden-Württemberg
    HEIDELBERG

    Financiado por um membro do IRDiRCE-IMD : European registry and network for Intoxication type Metabolic Diseases
  • Zentrum für Kinder- und Jugendmedizin - Angelika-Lautenschläger-Klinik
  • Klinik für Kinderheilkunde I - Sektion für Neuropädiatrie und Stoffwechselmedizin
  • PAISES BAIXOS

    Zuid-Holland
    LEIDEN

    PAAIR: Patient's Association and Alpha-1 International Registry network (FINALISED)
  • LUMC - Leids Universitair Medisch Centrum
  • Afdeling Longziekten
  • ALEMANHA

    Baden-Württemberg
    HEIDELBERG

    iNTD Network - International Working Group on Neurotransmitter Related Disorders
  • Dietmar-Hopp-Stoffwechselzentrum
  • Klinik für Kinderheilkunde I - Stoffwechsellabor
  • PAISES BAIXOS

    Noord-Holland
    AMSTERDAM

    Financiado por um membro do IRDiRCE-HOD - European network and registry for homocystinurias and methylation defects
  • Amsterdam UMC, locatie VUmc
  • Afdeling Interne Geneeskunde
  • REINO UNIDO

    South Yorkshire
    SHEFFIELD

    Financiado por um membro do IRDiRCEUROWILSON: European network on Wilson disease (registries)
  • The Sheffield Children's Hospital
  • Sheffield Children's Hospital (Division of Child Health)
  • REINO UNIDO

    West Midlands
    BIRMINGHAM

    ITALIA

    LIGURIA
    GENOVA

    EUROFEVER: PReS European network of registries for autoinflammatoy diseases in childhood
  • IRCCS Istituto G. Gaslini - Ospedale Pediatrico
  • U.O.C. di Pediatria II - I.A.S. Malattie Autoinfiammatorie