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RD-Action Matchmaker – Summary of Disease Expertise Recorded Under
Summary of disease expertise recorded via RD-ACTION Matchmaker under each Thematic Grouping and EURORDIS Members’ Thematic Grouping Thematic Reported expertise of those completing the EURORDIS Member perspectives on Grouping matchmaker under each heading Grouping RD Thematically Rare Bone Achondroplasia/Hypochondroplasia Achondroplasia Amelia skeletal dysplasia’s including Achondroplasia/Growth hormone cleidocranial dysostosis, arthrogryposis deficiency/MPS/Turner Brachydactyly chondrodysplasia punctate Fibrous dysplasia of bone Collagenopathy and oncologic disease such as Fibrodysplasia ossificans progressive Li-Fraumeni syndrome Osteogenesis imperfecta Congenital hand and fore-foot conditions Sterno Costo Clavicular Hyperostosis Disorders of Sex Development Duchenne Muscular Dystrophy Ehlers –Danlos syndrome Fibrodysplasia Ossificans Progressiva Growth disorders Hypoparathyroidism Hypophosphatemic rickets & Nutritional Rickets Hypophosphatasia Jeune’s syndrome Limb reduction defects Madelung disease Metabolic Osteoporosis Multiple Hereditary Exostoses Osteogenesis imperfecta Osteoporosis Paediatric Osteoporosis Paget’s disease Phocomelia Pseudohypoparathyroidism Radial dysplasia Skeletal dysplasia Thanatophoric dwarfism Ulna dysplasia Rare Cancer and Adrenocortical tumours Acute monoblastic leukaemia Tumours Carcinoid tumours Brain tumour Craniopharyngioma Colon cancer, familial nonpolyposis Embryonal tumours of CNS Craniopharyngioma Ependymoma Desmoid disease Epithelial thymic tumours in -
Abstracts from the 50Th European Society of Human Genetics Conference: Electronic Posters
European Journal of Human Genetics (2019) 26:820–1023 https://doi.org/10.1038/s41431-018-0248-6 ABSTRACT Abstracts from the 50th European Society of Human Genetics Conference: Electronic Posters Copenhagen, Denmark, May 27–30, 2017 Published online: 1 October 2018 © European Society of Human Genetics 2018 The ESHG 2017 marks the 50th Anniversary of the first ESHG Conference which took place in Copenhagen in 1967. Additional information about the event may be found on the conference website: https://2017.eshg.org/ Sponsorship: Publication of this supplement is sponsored by the European Society of Human Genetics. All authors were asked to address any potential bias in their abstract and to declare any competing financial interests. These disclosures are listed at the end of each abstract. Contributions of up to EUR 10 000 (ten thousand euros, or equivalent value in kind) per year per company are considered "modest". Contributions above EUR 10 000 per year are considered "significant". 1234567890();,: 1234567890();,: E-P01 Reproductive Genetics/Prenatal and fetal echocardiography. The molecular karyotyping Genetics revealed a gain in 8p11.22-p23.1 region with a size of 27.2 Mb containing 122 OMIM gene and a loss in 8p23.1- E-P01.02 p23.3 region with a size of 6.8 Mb containing 15 OMIM Prenatal diagnosis in a case of 8p inverted gene. The findings were correlated with 8p inverted dupli- duplication deletion syndrome cation deletion syndrome. Conclusion: Our study empha- sizes the importance of using additional molecular O¨. Kırbıyık, K. M. Erdog˘an, O¨.O¨zer Kaya, B. O¨zyılmaz, cytogenetic methods in clinical follow-up of complex Y. -
Orphanet Report Series Rare Diseases Collection
Marche des Maladies Rares – Alliance Maladies Rares Orphanet Report Series Rare Diseases collection DecemberOctober 2013 2009 List of rare diseases and synonyms Listed in alphabetical order www.orpha.net 20102206 Rare diseases listed in alphabetical order ORPHA ORPHA ORPHA Disease name Disease name Disease name Number Number Number 289157 1-alpha-hydroxylase deficiency 309127 3-hydroxyacyl-CoA dehydrogenase 228384 5q14.3 microdeletion syndrome deficiency 293948 1p21.3 microdeletion syndrome 314655 5q31.3 microdeletion syndrome 939 3-hydroxyisobutyric aciduria 1606 1p36 deletion syndrome 228415 5q35 microduplication syndrome 2616 3M syndrome 250989 1q21.1 microdeletion syndrome 96125 6p subtelomeric deletion syndrome 2616 3-M syndrome 250994 1q21.1 microduplication syndrome 251046 6p22 microdeletion syndrome 293843 3MC syndrome 250999 1q41q42 microdeletion syndrome 96125 6p25 microdeletion syndrome 6 3-methylcrotonylglycinuria 250999 1q41-q42 microdeletion syndrome 99135 6-phosphogluconate dehydrogenase 67046 3-methylglutaconic aciduria type 1 deficiency 238769 1q44 microdeletion syndrome 111 3-methylglutaconic aciduria type 2 13 6-pyruvoyl-tetrahydropterin synthase 976 2,8 dihydroxyadenine urolithiasis deficiency 67047 3-methylglutaconic aciduria type 3 869 2A syndrome 75857 6q terminal deletion 67048 3-methylglutaconic aciduria type 4 79154 2-aminoadipic 2-oxoadipic aciduria 171829 6q16 deletion syndrome 66634 3-methylglutaconic aciduria type 5 19 2-hydroxyglutaric acidemia 251056 6q25 microdeletion syndrome 352328 3-methylglutaconic -
Download File
Freely available online Conference Proceedings Proceedings of the Ninth International Meeting on Neuroacanthocytosis Syndromes 1 1,2,3 Editors: Kevin Peikert & Andreas Hermann 1 Department of Neurology, University Hospital Carl Gustav Carus, Technische Universita¨t Dresden, Dresden, Germany, 2 Center for Regenerative Therapies Dresden (CRTD), Technische Universita¨t Dresden, Dresden, Germany, 3 German Center for Neurodegenerative Diseases (DZNE) Dresden, Dresden, Germany Citation: Peikert K, Hermann A, editors. Proceedings of the ninth international meeting on neuroacanthocytosis syndromes; 2018 March 23–25; Dresden, Germany. Tremor Other Hyperkinet Mov. 2018; 8. doi: 10.7916/D8ZC9KCW Published: July 17, 2018 Copyright: This is an open-access article distributed under the terms of the Creative Commons Attribution–Noncommercial–No Derivatives License, which permits the user to copy, distribute, and transmit the work provided that the original author(s) and source are credited; that no commercial use is made of the work; and that the work is not altered or transformed. Introduction its genetic basis in 2001. In spite of the wealth of in vivo and in The 9th International Meeting on Neuroacanthocytosis Syndromes vitro models presented at neuroacanthocytosis symposia past and was held on March 23th–25th, 2018 in Dresden, Germany. The present, its function (or functions) has so far remained elusive. conference followed the tradition of the previous eight international It may be worthwhile to review features of the disease for clues. symposia, the last of which was held in Ann Arbor, USA in May, 2016. 1) ChAc is an autosomal-recessive condition. 2) Gender distribution Following the positive response to the previous meeting, a major appears equal. -
The Symptom Profile and Experience of Children with Rare Life-Limiting Conditions
The symptom profile and experience of children with rare life-limiting conditions: Perspectives of their families and key health professionals Document Title The symptom profile and experience of children with rare life-limiting conditions: Perspectives of their families and key health professionals Authors Cari Malcolm, Sally Adams, Gillian Anderson, Faith Gibson, Richard Hain, Anthea Morley, Liz Forbat. Publisher Cancer Care Research Centre, University of Stirling Publication Date 2011 Target Audience Paediatric palliative care staff, paediatric clinicians, policy-makers, service developers, families supporting children with life-limiting conditions. Funded By Children’s Hospice Association Scotland Key Words Advance care planning, Batten disease, expertise, extended family, family, Morquio disease, progressive life-limiting, relationships, Sanfilippo disease, siblings, symptoms. Contact Details www.cancercare.stir.ac.uk Tel: 01786 849260 Email: [email protected] Copyright This publication is copyright CCRC and may be reproduced free of charge in any format or medium. Any material used must be fully acknowledged, and the title of the publication, authors and date of publication specified. The symptom profile and experience of children with rare life- limiting conditions: Perspectives of their families and key health professionals Executive Summary Background Many non-malignant life-limiting conditions are individually extremely rare and little is known, even by professionals in the field, about the actual day-to-day symptomatology or the impact of these symptoms on the child and family. With little recorded in the literature regarding the symptoms that children with rare life-limiting conditions experience, and the associated impact of managing these symptoms on the wider family, an opportunity exists to widen the knowledge base in this area. -
Looks Like Angelman Syndrome but Isn’T – What Is in the Differential?
R.C.P.U. NEWSLETTER Editor: Heather J. Stalker, M.Sc. Director: Roberto T. Zori, M.D. R.C. Philips Research and Education Unit Vol. XXII No. 1 A statewide commitment to the problems of mental retardation January 2011 R.C. Philips Unit ♦ Division of Pediatric Genetics, Box 100296 ♦ Gainesville, FL 32610 ♦ (352)294-5050 E Mail: [email protected]; [email protected] Website: http://www.peds.ufl.edu/divisions/genetics/newsletters.htm Looks like Angelman syndrome but isn’t – What is in the differential? Charles A. Williams, MD Division of Pediatric Genetics & Metabolism University of Florida Angelman syndrome Differential Diagnosis of Angelman syndrome (AS) Angelman syndrome is a neurobehavioral disorder characterized by Individuals with AS-like features often present with psychomotor delay and/or developmental delay, progressive microcephaly, ataxic gait, absence of seizures and the differential diagnosis can be broad, encompassing such speech, seizures and a characteristic behavioral phenotype which includes non-specific entities as cerebral palsy, static encephalopathy, autism and happy demeanor and spontaneous bouts of laughter. AS was originally mitochondrial encephalomyopathy. Tremulousness and jerky limb called the “Happy Puppet Syndrome” in its description by Harry Angelman in movements, seen in most individuals with AS may help distinguish it from 1965 in an attempt to describe the upheld hands, clumsy gait and happy these conditions (see table below for other helpful distinguishing features). demeanor of individuals with this condition. The incidence is estimated to be Specific syndromes that mimic AS are reviewed below. Table 1 provides a between 1 in 15,000 and 1 in 20,000 live births. -
Angelman Syndrome Clinical Management Guidelines
Management of Angelman Syndrome A Clinical Guideline Angelman Syndrome Guideline Development Group Angelman Syndrome Clinical Management Guidelines Contents Introduction 3 … to Angelman Syndrome 3 … to the Angelman Syndrome Guidelines Development project 3 … to the Angelman Syndrome Clinical Management Guidelines 3 Diagnosis of Angelman Syndrome 4 … Clinical Diagnosis 4 … Genetic Investigation 5 Recommendations for the Management of Angelman Syndrome 6 … Feeding and Diet 6 … Speech and Communication 12 … Development 7 … Dental and Drooling 13 … Seizures and CNS 8 … General health and Anaesthesia 14 … Sleep 9 … Scoliosis and Skeletal 15 … Vision and Hearing 10 … Sexual health and Puberty 16 … Behaviour 11 … Alternative therapies 17 Information for Parents 18 Bibliography 19 APPENDIX: Genetic Mechanisms in Angelman Syndrome 24 Acknowledgements 25 Angelman Syndrome Clinical Management Guidelines 2 Introduction... … to Angelman Syndrome (AS) Angelman syndrome is a neurodevelopmental disorder that occurs in 1 in 20-40,000 births. It is characterised by severe learning difficulties, ataxia, a seizure disorder with a characteristic EEG, subtle dysmorphic facial features, and a happy, sociable disposition. Most children present with delay in developmental milestones and slowing of head growth during the first year of life. In the majority of cases speech does not develop. Patients with AS have a characteristic behavioural phenotype with jerky movements, frequent and sometimes inappropriate laughter, a love of water, and sleep disorder. The facial features are subtle and include a wide, smiling mouth, prominent chin, and deep set eyes. It is caused by a variety of genetic abnormalities involving the chromosome 15q11-13 region, which is subject to genomic imprinting. These include maternal deletion, paternal uniparental disomy, imprinting defects, and point mutations or small deletions within the UBE3A gene, which lies within this region (see Appendix: Genetic Mechanisms in AS, p. -
HIGH RISK 1P36 This Pregnancy Is Classified As HIGH RISK by This Screen for a Deletion at 1P36, Which Is Associated with 1P36 Deletion Syndrome
Patient Report |FINAL Client: Example Client ABC123 Patient: Patient, Example 123 Test Drive Salt Lake City, UT 84108 DOB 4/3/1982 UNITED STATES Gender: Female Patient Identifiers: 01234567890ABCD, 012345 Physician: Doctor, Example Visit Number (FIN): 01234567890ABCD Collection Date: 01/01/2017 12:34 Non-Invasive Prenatal Testing for Fetal Aneuploidy with Microdeletions ARUP test code 2010232 Result Summary HIGH RISK 1p36 This pregnancy is classified as HIGH RISK by this screen for a deletion at 1p36, which is associated with 1p36 deletion syndrome. This result should be confirmed by a diagnostic test. Dependent on fetal fraction, 7 to 17% of pregnancies classified as HIGH RISK are found to have 1p36 deletion syndrome. TEST INFORMATION: Non-Invasive Prenatal Testing for Fetal Aneuploidy (Powered by Constellation) with or without Microdeletions METHODOLOGY: DNA isolated from the maternal blood, which contains placental DNA, is amplified at 13,300+ loci using a targeted PCR assay and sequenced using a high-throughput sequencer. Sequence data are analyzed using Natera's Constellation software to estimate the fetal copy number and identify whole chromosome abnormalities for chromosomes 13, 18, 21, X, and Y as well as fetal sex. Barring QC failures and fetal fractions below the performance limits of the algorithm, the minimum confidence threshold is 0.98 for a high risk call. For both low risk and high risk calls, the majority of specimens will have a confidence of >0.99 across all regions tested. If a sample fails to meet the quality threshold, no result will be reported for one or more chromosomes. Microdeletions: An additional 6,600+ loci are amplified to estimate the fetal copy numbers of chromosomal regions attributed to 22q11.2, Prader-Willi, Angelman, Cri-du-chat, and 1p36 deletion syndromes. -
Neuropathology of Chorea-Acanthocytosis
Aus der Neurologischen Klinik und Poliklinik der Ludwig – Maximilians – Universität München Direktorin: Prof. Dr. med. Marianne Dieterich Neuropathology of Chorea-acanthocytosis Dissertation zum Erwerb des Doktorgrades der Medizin an der Medizinischen Fakultät der Ludwig – Maximilians – Universität zu München vorgelegt von Jia Liu aus Tianjin (China) 2014 Mit Genehmigung der Medizinischen Fakultät der Universität München Berichterstatter: Prof. Dr. med. Adrian Danek Mitberichterstatter: Priv. Doz. Dr. Rupert Egensperger Priv. Doz. Dr. Siegfried Knösel Mitbetreuung durch den promovierten Mitarbeiter: Dr. med. Benedikt Bader .Dr. med. Thomas Arzberger Dekan: Prof. Dr. med. Dr. h.c. M. Reiser, FACR, FRCR Tag der mündlichen Prüfung: 10.04.2014 Contents 1 Introduction ...................................................................................................1 1.1 Epidemiology .......................................................................................1 1.2 Genetics ..............................................................................................1 1.3 Pathology.............................................................................................2 1.4 Clinical Features..................................................................................3 1.5 Diagnosis.............................................................................................4 1.6 Treatments...........................................................................................5 2 Aims of Study ................................................................................................6 -
Autism in Genetic Syndromes: Implications for Assessment and Intervention
© © Cerebra Cerebra 2012 2009 Autism in genetic syndromes: Implications for assessment and intervention. Introduction Dr. Jo Moss and Prof. Chris Oliver This briefing has been prepared to help parents and carers of children with genetic syndromes understand how and why autism spectrum disorder or Cerebra Centre for related characteristics might be seen in children with genetic syndromes and Neurodevelopmental what this might mean for assessment and intervention. This briefing provides Disorders (CNDD) a summary of information presented in a peer reviewed scientific article University of Birmingham published in 20091 and an academic book chapter published in 2011.2 1. What is Autism Spectrum Disorder? Autism spectrum disorder (ASD) is a developmental disability that occurs in up to 1% of children and adults in the general population3 and up to 40% of individuals within the learning disability population.4 ASD is diagnosed on the basis of observable impairments and behaviours in three core areas (also known as the triad of impairments). These are: 1. impairments in communication and language, 2. impairments in social interaction and social relatedness and, 3. the presence of repetitive behaviours and restricted interests. In children with ASD, difficulties in these three areas are typically evident before the age of three years. ASD is a spectrum condition, which means that while all people with ASD share certain difficulties, there is a great deal of variability in the way in which these difficulties are seen and in their severity. 2. What is the cause of Autism Spectrum Disorder? The specific causes of ASD remain unknown but most studies indicate a biological or genetic cause.5 A high level of heritability (passing within families) of ASD characteristics in families and siblings of affected individuals has been reported.6 However, this is not always the case and there are many individuals with ASD in which there are no familial links to the condition.7 Registered Charity no. -
Chromosomal Disorders
Understanding Genetic Tests and How They Are Used David Flannery,MD Medical Director American College of Medical Genetics and Genomics Starting Points • Genes are made of DNA and are carried on chromosomes • Genetic disorders are the result of alteration of genetic material • These changes may or may not be inherited Objectives • To explain what variety of genetic tests are now available • What these tests entail • What the different tests can detect • How to decide which test(s) is appropriate for a given clinical situation Types of Genetic Tests . Cytogenetic . (Chromosomes) . DNA . Metabolic . (Biochemical) Chromosome Test (Karyotype) How a Chromosome test is Performed Medicaldictionary.com Use of Karyotype http://medgen.genetics.utah.e du/photographs/diseases/high /peri001.jpg Karyotype Detects Various Chromosome Abnormalities • Aneuploidy- to many or to few chromosomes – Trisomy, Monosomy, etc. • Deletions – missing part of a chromosome – Partial monosomy • Duplications – extra parts of chromosomes – Partial trisomy • Translocations – Balanced or unbalanced Karyotyping has its Limits • Many deletions or duplications that are clinically significant are not visible on high-resolution karyotyping • These are called “microdeletions” or “microduplications” Microdeletions or microduplications are detected by FISH test • Fluorescence In situ Hybridization FISH fluorescent in situ hybridization: (FISH) A technique used to identify the presence of specific chromosomes or chromosomal regions through hybridization (attachment) of fluorescently-labeled DNA probes to denatured chromosomal DNA. Step 1. Preparation of probe. A probe is a fluorescently-labeled segment of DNA comlementary to a chromosomal region of interest. Step 2. Hybridization. Denatured chromosomes fixed on a microscope slide are exposed to the fluorescently-labeled probe. Hybridization (attachment) occurs between the probe and complementary (i.e., matching) chromosomal DNA. -
ORD Resources Report
Resources and their URL's 12/1/2013 Resource Name: Resource URL: 1 in 9: The Long Island Breast Cancer Action Coalition http://www.1in9.org 11q Research and Resource Group http://www.11qusa.org 1p36 Deletion Support & Awareness http://www.1p36dsa.org 22q11 Ireland http://www.22q11ireland.org 22qcentral.org http://22qcentral.org 2q23.org http://2q23.org/ 4p- Support Group http://www.4p-supportgroup.org/ 4th Angel Mentoring Program http://www.4thangel.org 5p- Society http://www.fivepminus.org A Foundation Building Strength http://www.buildingstrength.org A National Support group for Arthrogryposis Multiplex http://www.avenuesforamc.com Congenita (AVENUES) A Place to Remember http://www.aplacetoremember.com/ Aarons Ohtahara http://www.ohtahara.org/ About Special Kids http://www.aboutspecialkids.org/ AboutFace International http://aboutface.ca/ AboutFace USA http://www.aboutfaceusa.org Accelerate Brain Cancer Cure http://www.abc2.org Accelerated Cure Project for Multiple Sclerosis http://www.acceleratedcure.org Accord Alliance http://www.accordalliance.org/ Achalasia 101 http://achalasia.us/ Acid Maltase Deficiency Association (AMDA) http://www.amda-pompe.org Acoustic Neuroma Association http://anausa.org/ Addison's Disease Self Help Group http://www.addisons.org.uk/ Adenoid Cystic Carcinoma Organization International http://www.accoi.org/ Adenoid Cystic Carcinoma Research Foundation http://www.accrf.org/ Advocacy for Neuroacanthocytosis Patients http://www.naadvocacy.org Advocacy for Patients with Chronic Illness, Inc. http://www.advocacyforpatients.org