DOCSLIB.ORG

Witkop's Syndrome: a Rare Entity Discussed

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Witkop's Syndrome: a Rare Entity Discussed International Journal of Dental and Health Sciences Case Report Volume 03, Issue 06 WITKOP’S SYNDROME: A RARE ENTITY DISCUSSED Umesh Manikrao Zende1, Raghavendra Satappa Byakodi2,Avinash Bhimarao Kshar3,Arati Gaurav Paranjpe4,Sunil Sudhakar Awale5,Neeta Nagnath Nilamwar6 1.Postgraduate Student,VPDC & H,Sangli 2.Professor & Guide, VPDC & H,Sangli 3.Professor & Head,VPDC & H,Sangli 4.Reader,VPDC & H,Sangli 5.Senior Lecturer,VPDC & H,Sangli 6.Postgraduate Student,VPDC & H,Sangli ABSTRACT: Witkop’s syndrome also known as ‘tooth & nail syndrome’ or ‘nail dysgenesis & hyodontia’ is a rare autosomal dominant disorder characteristically presenting hypodontia& morphological changes in teeth alongwith dysgenesis of nails. The incidence of Witkop’s syndrome is 1-2 in every 10,000 individuals. The present case describes a 17-year old male patient showing characteristic features of Witkop’s syndrome and multifaceted treatment provided to the patient. Keywords:Witkop’s syndrome, MSX1 gene, hypodontia, nail dysgenesis. INTRODUCTION A 17-year-old male patient reported to our institution with the chief complaint of Witkop’s syndrome is a rare autosomal small teeth, generalized spacing between dominant disorder which was first teeth. Patient gave no positive history of described by Witkop in 1965.[1] The exfoliation or extraction of teeth but gave mesenchyme gene MSX1 which is a a history of delayed eruption of teeth. transcription factor expressed in several When asked about his family history he embryonic structures, was proved to be gave a positive history of his father responsible for etiology of Witkop’s suffering from a similar complaint. He also syndrome in 2001.[2-4] It is characterized gave a history of slow growth of his toe by hypodontia and morphological changes nails, which also frequently tended to in teeth, along with dysgenesis of nails.[5-8] fracture. It is also known as the ‘tooth and nail syndrome’ (TNS) or ‘nail dysgenesis and A general examination revealed normal hypodontia’.[9] The clinical feature hair (both in growth and texture), associated with Witkop’s syndrome are eyebrows and skin. (Figure1). He had hypodontia and infrequently anodontia of dysplastic toe nails, no abnormalities were the permanent teeth in which seldom detected in the finger nails (Figure 2). more than 20 permanent teeth are missing.[10] On intraoral examination, 20 retained deciduous and 1 permanent teeth (left CASE DETAIL: maxillary first permanent molar) were present. All other permanent teeth were *Corresponding Author Address: Dr.Sunil SudhakarAwaleEmail:[email protected] Zende U. et al., Int J Dent Health Sci 2016; 3(6): 1193-1198 missing clinically. All teeth were absent at birth.[5] Nail dysplasia is a attritedand generalized spacing was common feature in the Witkop’s present in both arches. Loss of vertical syndrome where nails tend to be spoon – dimension was noted. High frenal shaped (koilenchyia), thin, slow growing, attachment was seen in upper anterior brittle & easy to break (onychorrhexis). region. (Figure 3). The nail defects are however alleviated with age and may not be easily detectable OPG (Figure 4) revealed resorption of the during adulthood.[7, 9, 12-14] roots in both upper and lower anterior region.Sobased on the above extraoral& It is characterized by hypodontia and intraoral clinical findings, positive familial infrequently anodontia of the permanent history, a provisional diagnosis of teeth. Maxillary incisors, canines and Witkop’s syndrome was made. second molars are most commonly missing and the affected teeth tend to TREATMENT: After keeping in mind all the have narrow crowns & conical shape are needs and limitations of the adolescent widely spaced.[15-16] In Witkop’s syndrome patient & in order to provide esthetics partial or total agenesis of dentition is and optimum function, a multifaceted sometime present causes over retention approach was planned with cooperation of the primary teeth.[17] of Periodontist, Prosthodontist&Endodontist.Patient was Various genetic syndrome in which advised conservative tooth supported full oligodontia occurs include Ectrodactyly- mouth rehabilitation, endodontic Ectodermal Dysplasia-Clefting syndrome, treatment including RCT for Cleft Lip Palate Ectodermal Dysplasia 51,52,53,61,62,63 along with post and syndrome, Oral Facial Digital syndrome core for 53,63, frenectomy in upper type I , Witkop Tooth-Nail syndrome, Fried anterior region followed by crown syndrome, Hair- Nail- Skin- Teeth lengthening from 53 to 63 region (Figure 5 dysplasias, Ectodermal Dysplasia, & 6). IncontinentiaPigmenti, Down syndrome, Rieger syndrome, Wolf-Hirschhorn DISCUSSION syndrome, Van der Woude syndrome.[18- Witkop’s syndrome is rare autosomal 19] dominant disorder and variants of ectodermal dysplasia which occur Patient suffering from oligodontia are approximately one to two in every 10,000 mainly affected with significant individuals.[11] In Witkop’s syndrometooth psychological, functional and esthetic agenesis is accompanied by nail problems.[20] In the present case, the deformities such as the nail plates are patient was normothermic with normal defective and thinner.[2] In most sweat gland function. As compared to x- individuals with Witkop’s syndrome linked recessive hypohydrotic ED, the toenails are severely affected than finger dental anomalies are less sever in nails and in some cases nail plates are Witkop's syndrome.[7] Hair defects like 1194 Zende U. et al., Int J Dent Health Sci 2016; 3(6): 1193-1198 hypotrichosis & alopecia are not Non surgical treatment plan was adopted specifically associated with Witkop's as it was cost effective as compared to syndrome & anomalies of facial implant prosthesis. topography, such as frontal bossing, The patient was satisfied about his depressed nasal ridges, and everted lips, improved appearance & masticatory commonly seen in patients with x-linked function (Figure 7). Presently he is on recessive ED are not seen in Witkop's periodic regular follow up. syndrome.[8] CONCLUSION Dental treatment can vary depending on the severity of the disease and generally Witkop’s syndrome is a rare disorder requires a multidisciplinary approach. where patients present with hypodontia leading to functional disability. So, we as In our case, factors to be taken in dentists are accumstomed to provide a consideration before planning treatment proper diagnosis & multifaceted are age of the patient, number & treatment to restore the functional condition of retained teeth, condition of defects & provide a psychological boost supporting tissue, occlusion & by restoring proper esthetics to the interocclusal space. patient. Conflicts of interest: No conflicts of interest recorded REFERENCES 1. Witkop CJ Jr. Genetic diseases of the craniofacial development.1991; oral cavity. In: Tiecke RW, editor. 113(2):601-11. Oral Pathology. New York: McGraw- 5. Shigly A, Reddy RPV, Hugar SM, Hill; 1965. Deshpande D. 2. Jumlongras, D., Bei, M., Stimson, J. Hypohydroticectodermal dysplasia: a M., Wang, W.-F., DePalma, S. R., unique approach to esthetic and Seidman, C. E., Felbor, U., Maas, R., prosthetic management: a case Seidman, J. G., Olsen, B. R. A report. J Indian SocPedodPrev Dent. nonsense mutation in MSX1 causes 2015;31–34. Witkop syndrome. Am. J. Hum. 6. Mikulás K, Kivovics P, Nagy G, Genet. 69: 67-74, 2001 Márton K, Madléna M. Complex oral 3. Davidson D. The function and rehabilitation of a patient with evolution of Msx genes: pointers and Witkop's syndrome: an paradoxes. Trends in genetics: TIG. interdisciplinary approach. Oral 1995;11(10):405-11. health Dent Manage Black Sea 4. MacKenzie A, Ferguson MW, Sharpe Ctries. 2008;7:56–60. PT. Hox-7 expression during murine 1195 Zende U. et al., Int J Dent Health Sci 2016; 3(6): 1193-1198 7. Subramanium P, Neeraja R. Witkop's 1975; 39(3):409-23. PubMed PMID: tooth and nail syndrome: a 1054139. multifaceted approach to dental 13. Giansanti JS, Long SM, Rankin JL. The management. J Indian SocPedod “tooth and nail” type of autosomal Prevent Dent. 2008;26:22–25. dominant ectodermal dysplasia. Oral 8. Edward J, ZabawaskiJr, Cohen JB. surgery, oral medicine, and oral Hereditary hypodontia and pathology. 1974; 37(4):576-82. doi: onychorrhexis of the fingernails and 10.1016/0030-4220(74)90289- toenail koilonychia: Witkop tooth 8.PubMed PMID: 4521949. and nail syndrome. Dermatol Online 14. Świder K., Szozda A., Tokarski T.: J. 1999; 5:3–6. Prosthodontic treatment of children 9. Zabawski EJ, Jr., Cohen JB. – case reports. Dent. Med. Probl., Hereditary hypodontia and 2013; 50: 106-113 onychorrhexis of the fingernails and 15. Chitty LS, Dennis N, Baraitser M. toenail koilonychia: Witkop’s tooth- Hidrotic ectodermal dysplasia of and nail syndrome. Dermatology hair, teeth, and nails: case reports online journal. 1999;5(1):3. and review. Journal of medical 10. Hodges SA, Harley KE. Witkop tooth genetics. 1996;33(8):707-10. doi: and nail syndrome: Report of two 10.1136/ jmg.33.8.707. PubMed cases in a family. Int J Pediatr Dent PMID: 8863167. 1999;9:207-12. 16. Devadas S, Varma B, 11. Witkop CJ. Hypodontia-nail MungaraJ,Joseph T, Saraswathi TR. dysgenesis. In: Buyse ML (ed) Birth Witkop tooth and nail syndrome: a defects encyclopedia: the case report. Int J Paediatr Dent comprehensive, systematic, 2005; 15(5):364-69. illustrated reference source for the 17. Vinod Kumar Khurana MD, Rakesh diagnosis, delineation, etiology, Kumar Gupta MD, Lekshmi P Kumar biodynamics, occurrence, MD. Witkop syndrome: A case prevention, and treatment of human report of an affected family. anomalies of clinical relevance. Dermatol Online J 2008;18 (6): 2. 15: Center for Birth Defects Information 364-369 Services. Dover: Center for Birth 18. Ghazafaruddin M, Mishra G, Defects Information Services; 1990. Haseebuddin S, Mishra A. p. 1892. Oligodontia of Permanent Teeth: A 12. Hudson CD, Witkop CJ. Autosomal rare case report. Indian J Stomatol. dominant hypodontia with nail 2011; 2: 285-287. dysgenesis. Report of twenty-nine 19. Suda N, Ogawa T, Kojima T, Saito C, cases in six families. Oral surgery, Moriyama K. Non- oral medicine, and oral pathology.
Load more

Recommended publications
  • Prevalence and Incidence of Rare Diseases: Bibliographic Data
    Number 1 | January 2019 Prevalence and incidence of rare diseases: Bibliographic data Prevalence, incidence or number of published cases listed by diseases (in alphabetical order) www.orpha.net www.orphadata.org If a range of national data is available, the average is Methodology calculated to estimate the worldwide or European prevalence or incidence. When a range of data sources is available, the most Orphanet carries out a systematic survey of literature in recent data source that meets a certain number of quality order to estimate the prevalence and incidence of rare criteria is favoured (registries, meta-analyses, diseases. This study aims to collect new data regarding population-based studies, large cohorts studies). point prevalence, birth prevalence and incidence, and to update already published data according to new For congenital diseases, the prevalence is estimated, so scientific studies or other available data. that: Prevalence = birth prevalence x (patient life This data is presented in the following reports published expectancy/general population life expectancy). biannually: When only incidence data is documented, the prevalence is estimated when possible, so that : • Prevalence, incidence or number of published cases listed by diseases (in alphabetical order); Prevalence = incidence x disease mean duration. • Diseases listed by decreasing prevalence, incidence When neither prevalence nor incidence data is available, or number of published cases; which is the case for very rare diseases, the number of cases or families documented in the medical literature is Data collection provided. A number of different sources are used : Limitations of the study • Registries (RARECARE, EUROCAT, etc) ; The prevalence and incidence data presented in this report are only estimations and cannot be considered to • National/international health institutes and agencies be absolutely correct.
    [Show full text]
  • 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
    [Show full text]
  • MSX1 in Relation to Clefting, Hypodontia and Hydrocephaly in Humans
    MSX1 in relation to clefting, hypodontia and hydrocephaly in humans Marie-José van den Boogaard Promotor: Prof. dr. D.Lindhout Co-promotor: Dr. J.K. Ploos van Amstel Concept & Design by Sabel Design (Michel van den Boogaard), Bilthoven Lay out by Studio Voetnoot, Utrecht Printed and bounded by Drukwerkconsultancy, Utrecht ISBN 978-90-393-5903-7 Picture Cover: molar tooth bud mouse embryo (E12) – with thanks to D Sassoon and B Robert - Génétique Moléculaire de la Morphogenèse, Institut Pasteur, Paris, France. Foto: Vincent Boon – www.vincentboon.nl © 2012 M-J.H. van den Boogaard All rights are reserved. No parts of this publication may be reproduced, stored en a retrieval system of any nature, or transmitted in any form or by an y means, electronic, mechanical, photocopying, recording or otherwise, without prior permission of the publisher. 2 MSX1 in relation to clefting, hypodontia and hydrocephaly in humans MSX1 in relatie tot schisis, hypodontie en hydrocefalie bij de mens (met een samenvatting in het Nederlands) Proefschrift ter verkrijging van de graad van doctor aan de Universiteit Utrecht op gezag van de rector magnificus, prof.dr. G.J. van der Zwaan, ingevolge het besluit van het college voor promoties in het openbaar te verdedigen op dinsdag 29 januari 2013 des middags te 4.15 uur. door Marie-José Henriette van den Boogaard geboren op 2 augustus 1964 te Helmond 3 Promotor Prof. dr. D. Lindhout Co-promotor Dr. J.K. Ploos van Amstel Dit proefschrift werd mede mogelijk gemaakt met financiële steun van de Nederlandse Vereniging voor Gnathologie en Prothetische Tandheelkunde (NVGPT).
    [Show full text]
  • Phenotypic and Genotypic Features of Familial Hypodontia
    Institute of Dentistry, Department of Pedodontics and Orthodontics, University of Helsinki, Finland Department of Oral and Maxillofacial Diseases, Helsinki University Central Hospital, Helsinki PHENOTYPIC AND GENOTYPIC FEATURES OF FAMILIAL HYPODONTIA Sirpa Arte Academic Dissertation to be publicly discussed with the permission of the Faculty of Medicine of the University of Helsinki in the Main Auditorium of the Institute of Dentistry on 19 October, 2001, at 12 noon. Helsinki 2001 1b216251taitto28.9 1 28.9.2001, 17:49 Supervised by Sinikka Pirinen, DDS, PhD Professor Department of Pedodontics and Orthodontics Institute of Dentistry, University of Helsinki, Finland Irma Thesleff, DDS, PhD Professor Developmental Biology Programme Institute of Biotechnology, University of Helsinki, Finland Reviewed by Mirja Somer, MD, PhD Docent Department of Medical Genetics University of Helsinki and Clinical Genetics Unit Helsinki University Central Hospital, Finland Birgitta Bäckman, DDS, PhD Associate Professor Department of Odontology/Pedodontics Faculty of Medicine and Odontology University of Umeå, Sweden ISBN 952-91-3894-6 (Print) ISBN 952-10-0154-2 (PDF) Yliopistopaino Helsinki 2001 1b216251taitto28.9 2 28.9.2001, 17:49 To Lauri, Eero, and Elisa 1b216251taitto28.9 3 28.9.2001, 17:49 4 1b216251taitto28.9 4 28.9.2001, 17:49 CONTENTS LIST OF ORIGINAL PUBLICATIONS ................................................................. 9 ABBREVIATIONS..................................................................................................... 10
    [Show full text]
  • Figure Credits
    Figure Credits Aarskog, D., Diagrams III, IV DeFraitcs, F., 427A Abrams, A., 4 7 5 DeMycr, W., 290, 340, Tables XVI-XX Agatston, H.J., 33 Dental Clinics of North America Allderdice, P.W., 177 475 19o27, 1975 American Journal of Diseases of Children(© AMA) Desnick, R.J., Diagram VII 151 105o588, 1963 Dieker, H., 328, 329 267 123o254, 1972 Dorst, J.P., 296, 298 455 107o49, 1964 Doyle, P.J., 319 American Journal of Human Genetics (U. of Chicago Press) Drescher, E., 272, 273 175 19o586, 1967 Drews, R., 53,54 177 20o500, 1969 Duhamel, B., 126 Annates de Genetique Durand, P., 268 169 !Oo221, 1967 Ea<;tman Kodak©, 109 170 7o17, 1964 F.lsahy, N.L, 150 Annales de Radiologic English, G.M., 318 453 16o19, 1973 Epstein, C.J., 496 Annates Paediatrici (Basel) Ev,ns, P.Y., 6, ll-13, 15, 17, 18, 22, 27, 28, 31, 32, 43, 45-47, 204 199o393, 1962 55, 59, 61, 65, 71, 75, 76, 92,95 Annals of Internal Medicine Excerpta Medica International Congress Series No. 55, Proc. XII 449-452 84(4)o393, 1976 Int. Cong. Derm. Archives of Dermatology (© AMA) 112 p.331,1962 295 101o669, 1970 Feingold, M., 67, 73, 74, 97, 207 Archives of Neurology (© AMA) Ferguson-Smith, M.A., 98, 493 8o318, 1963 143 Forsius, H., 444 Armstrong, H. B., 188 Franceschetti, A.T., 259-261 Aurbach, G.D., 433,434 Francke, U., 173 Ayerst Laboratory, 1, 7, 16, 25, 26, 29, 30, 33, 35, 36, 40 42, 52 Fran<;ois, J., 127 Baller, F., 208 Fraser, F.C., 24 7 Bannerman, R.M., 463 Fraser, G.R., 215 Bart, B.J., 246,425 (left), 501 Bartsocas, C.S., 391 Fraumeni, J.F., Jr., 288 Beaudet, A., Jr., 196 Frenkel, J.K.,
    [Show full text]
  • MSX1 Gene in the Etiology Orofacial Deformities Gen MSX1 W
    Postepy Hig Med Dosw (online), 2015; 69: 1499-1504 www.phmd.pl e-ISSN 1732-2693 Review Received: 2015.04.27 Accepted: 2015.08.19 MSX1 gene in the etiology orofacial deformities Published: 2015.12.31 Gen MSX1 w etiologii wad rozwojowych twarzoczaszki Anna Paradowska-Stolarz Department of Dentofacial Anomalies, Department of Orthodontics and Dentofacial Orthopedics, Wrocław Medical University, Poland Summary The muscle segment homeobox (MSX1) gene plays a crucial role in epithelial-mesenchymal tissue interactions in craniofacial development. It plays a regulative role in cellular prolifera- tion, differentiation and cell death. The humanMSX1 domain was also found in cow (Bt 302906), mouse (Mm 123311), rat (Rn13592001), chicken (Gg 170873) and clawed toad (XI 547690). Cleft lip and palate is the most common anomaly of the facial part of the skull. The etiology is not fully understood, but it is believed that the key role is played by the genetic factor ac- tivated by environmental factors. Among the candidate genes whose mutations could lead to formation of the cleft, the MSX1 homeobox gene is mentioned. Mutations in the gene MSX1 can lead to isolated cleft deformities, but also cause other dismorphic changes. Among the most frequently mentioned is loss of permanent tooth buds (mostly of less than 4 teeth – hy- podontia, including second premolars). Mutations of MSX1 are observed in the Pierre- Robin sequence, which may be one of the featu- res of congenital defects or is observed as an isolated defect. Mutation of the gene can lead to the occurrence of a rare congenital defect Wiktop (dental-nail) syndrome.
    [Show full text]
  • Northwestern University, October 2008
    Chicago Dermatological Society Monthly Educational Conference Program Information Continuing Medical Education Certification and Case Presentations Wednesday, October 15, 2008 Conference Location: Feinberg School of Medicine Northwestern University Chicago, Illinois Chicago Dermatological Society 10 W. Phillip Rd., Suite 120 Vernon Hills, IL 60061-1730 (847) 680-1666 Fax: (847) 680-1682 Email: [email protected] CDS Monthly Conference Program October 2008 -- Northwestern University October 15, 2008 8:30 a.m. REGISTRATION, EXHIBITORS & CONTINENTAL BREAKFAST Robert H. Lurie Medical Research Center Atrium Lobby outside the Hughes Auditorium 9:00 a.m. - 10:00 a.m. RESIDENT LECTURE Understanding Uncommon Types of Hair Loss GEORGE COTSARELIS, MD Dermatology Lecture Hall, 676 N. St. Clair, Suite 1600 9:30 a.m. - 11:00 a.m. CLINICAL ROUNDS Patient & Slide Viewing Dermatology Clinic, 676 N. St. Clair Street, Suite 1600 11:00 a.m. - 12:00 p.m. GENERAL SESSION Hughes Auditorium, Lurie Building 11:00 a.m. CDS Business Meeting 11:15 a.m. Hair Follicle Stem Cells and Skin Regeneration in Wound Healing GEORGE COTSARELIS, MD 12:15 p.m. - 1:00 p.m. LUNCHEON Hughes Auditorium, Lurie Building & atrium area 1:00 p.m. - 2:30 p.m. AFTERNOON GENERAL SESSION Hughes Auditorium, Lurie Building Discussion of cases observed during morning clinical rounds WARREN PIETTE, MD, MODERATOR CME Information This activity is jointly sponsored by the Chicago Medical Society and the Chicago Dermatological Society. This activity has been planned and implemented in accordance with the Essentials Areas and Policies of the Accreditation Council for Continuing Medical Education (ACCME) through the joint sponsorship of the Chicago Medical Society and the Chicago Dermatological Society.
    [Show full text]
  • Nuove Politiche Per L'innovazione Nel Settore Delle Scienze Della Vita
    Laura Magazzini Fabio Pammolli Massimo Riccaboni WP CERM 03-2009 NUOVE POLITICHE PER L'INNOVAZIONE NEL SETTORE DELLE SCIENZE DELLA VITA ISBN 978-88-3289-038-9 INDICE EXECUTIVE SUMMARY .................................................................................. 2 1. Risorse e innovazione: fallimenti di mercato e logiche di intervento pubblico........... 2 2. Da raro a generale: nuovi modelli di sostegno mission-oriented alla ricerca e sviluppo nelle scienze della vita............................................................................... 31 2.1. Incentivi pubblici per la ricerca sulle malattie rare: il panorama internazionale.....37 Stati Uniti...........................................................................................................................................................................................37 Giappone.............................................................................................................................................................................................44 Australia..............................................................................................................................................................................................46 Unione Europea.............................................................................................................................................................................46 2.2. Incentivi pubblici per la ricerca sulle malattie rare: il panorama europeo.....................58 Francia ..................................................................................................................................................................................................58
    [Show full text]
  • Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:1
    UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:1 Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM) MARC1 1093 80% . MARCH1 1005 100% . MARC2 1797 92% . MARCH3 802 100% . MARCH4 1249 99% . MARCH5 861 96% . MARCH6 2907 100% . MARCH7 2161 100% . MARCH8 900 100% . MARCH9 1057 73% . MARCH10 2467 100% . MARCH11 1225 56% . SEPT1 1148 100% . SEPT2 1341 100% . SEPT3 1175 100% . SEPT4 1848 96% . SEPT5 1250 94% . SEPT6 1440 96% . SEPT7 1417 96% . SEPT8 1659 98% . SEPT9 2290 96% Hereditary Neuralgic Amyotrophy SEPT10 1605 98% . SEPT11 1334 98% . SEPT12 1113 100% . SEPT14 1335 100% . SEP15 518 100% . DEC1 229 100% . A1BG 1626 82% . A1CF 1956 100% . A2LD1 466 42% . A2M 4569 100% . A2ML1 4505 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:2 Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM) A4GALT 1066 100% . A4GNT 1031 100% . AAAS 1705 100% Achalasia‐Addisonianism‐Alacrima Syndrome AACS 2091 94% . AADAC 1232 100% . AADACL2 1226 100% . AADACL3 1073 100% . AADACL4 1240 100% . AADAT 1342 97% . AAGAB 988 100% . AAK1 3095 100% . AAMP 1422 100% . AANAT 637 93% . AARS 3059 100% Charcot‐Marie‐Tooth Neuropathy Type 2 AARS 3059 100% Charcot‐Marie‐Tooth Neuropathy Type 2N AARS2 3050 100% . AARSD1 1902 98% . AASDH 3391 100% . AASDHPPT 954 100% . AASS 2873 100% Hyperlysinemia AATF 1731 99% . AATK 4181 78% . ABAT 1563 100% GABA‐Transaminase Deficiency ABCA1 6991 100% ABCA1‐Associated Familial High Density Lipoprotein Deficiency ABCA1 6991 100% Familial High Density Lipoprotein Deficiency ABCA1 6991 100% Tangier Disease ABCA10 4780 100% .
    [Show full text]
  • Phenotypic and Genotypic Features of Familial Hypodontia
    Institute of Dentistry, View metadata, citation and similar papers at core.ac.ukDepartment of Pedodontics and Orthodontics, brought to you by CORE University of Helsinki, Finland provided by Helsingin yliopiston digitaalinen arkisto Department of Oral and Maxillofacial Diseases, Helsinki University Central Hospital, Helsinki PHENOTYPIC AND GENOTYPIC FEATURES OF FAMILIAL HYPODONTIA Sirpa Arte Academic Dissertation to be publicly discussed with the permission of the Faculty of Medicine of the University of Helsinki in the Main Auditorium of the Institute of Dentistry on 19 October, 2001, at 12 noon. Helsinki 2001 1b216251taitto28.9 1 28.9.2001, 17:49 Supervised by Sinikka Pirinen, DDS, PhD Professor Department of Pedodontics and Orthodontics Institute of Dentistry, University of Helsinki, Finland Irma Thesleff, DDS, PhD Professor Developmental Biology Programme Institute of Biotechnology, University of Helsinki, Finland Reviewed by Mirja Somer, MD, PhD Docent Department of Medical Genetics University of Helsinki and Clinical Genetics Unit Helsinki University Central Hospital, Finland Birgitta Bäckman, DDS, PhD Associate Professor Department of Odontology/Pedodontics Faculty of Medicine and Odontology University of Umeå, Sweden ISBN 952-91-3894-6 (Print) ISBN 952-10-0154-2 (PDF) Yliopistopaino Helsinki 2001 1b216251taitto28.9 2 28.9.2001, 17:49 To Lauri, Eero, and Elisa 1b216251taitto28.9 3 28.9.2001, 17:49 4 1b216251taitto28.9 4 28.9.2001, 17:49 CONTENTS LIST OF ORIGINAL PUBLICATIONS ................................................................
    [Show full text]
  • List Rare Diseases.Txt
    11 beta hydroxylase deficiency 11 beta hydroxysteroid dehydrogenase type 2 deficiency 17 alpha hydroxylase deficiency 17 beta hydroxysteroide dehydrogenase deficiency 2,8 dihydroxy-adenine urolithiasis 2-hydroxyglutaricaciduria 21 hydroxylase deficiency 3 beta hydroxysteroid dehydrogenase deficiency 3 hydroxyisobutyric aciduria 3 methylcrotonic aciduria 3 methylglutaconyl coa hydratase deficiency 3-hydroxy 3-methyl glutaryl-coa lyase deficiency 3-hydroxyacyl-coa dehydrogenase deficiency 3-methyl crotonyl-coa carboxylase deficiency 3-methyl glutaconic aciduria 3-methylcrotonylglycinuria 3c syndrome 3m syndrome 4 alpha hydroxyphenylpyruvate hydroxylase deficiency 46 xx gonadal dysgenesis epibulbar dermoid 47 XXY syndrome 47 xyy syndrome 48 xxxx syndrome 48 xxyy syndrome 49 xxxxx syndrome 49 xxxxy syndrome 5 alpha reductase 2 deficiency 6-pyruvoyltetrahydropterin synthase deficiency 7-dehydrocholesterol reductase deficiency aagenaes syndrome aarskog like syndrome aarskog ose pande syndrome aarskog syndrome aase smith syndrome aase syndrome abcd syndrome abdallat davis farrage syndrome abdominal aortic aneurysm abdominal cystic lymphangioma abdominal musculature absent microphthalmia joint laxity abetalipoproteinemia ablepharon macrostomia syndrome abnormal systemic veinous return abruzzo erickson syndrome absent corpus callosum cataract immunodeficiency absent hands and feet abuelo-forman-rubin syndrome acalvaria acanthocytosis chorea acanthocytosis neurologic disorder acanthosis nigricans acanthosis nigricans muscle cramps acral enlargement
    [Show full text]
  • (12) Patent Application Publication (10) Pub. No.: US 2007/0135335 A1 Collier Et Al
    US 20070135335A1 (19) United States (12) Patent Application Publication (10) Pub. No.: US 2007/0135335 A1 Collier et al. (43) Pub. Date: Jun. 14, 2007 (54) THERAPEUTIC MOLECULES Related U.S. Application Data (75) Inventors: Greg Collier, Victoria (AU); Ken (60) Provisional application No. 60/446,191, filed on Feb. Walder, Victoria (AU); Lyndal 10, 2003. Kerr-Bayles, Victoria (AU) Publication Classification Correspondence Address: SCULLY, SCOTT, MURPHY & PRESSER, P.C. (51) Int. Cl. 4OO GARDEN CITY PLAZA A6II 38/17 (2006.01) SUTE 3OO A6IR 48/00 (2006.01) GARDEN CITY, NY 11530 (US) C07K I4/705 (2006.01) (52) U.S. Cl. ............................... 514/12: 514/44; 530/350 (73) Assignees: Autogen Research Pty Ltd., North Brighton, Victoria (AU); Deakin Univer (57) ABSTRACT sity, Waurn Ponds, Victoria (AU) The present invention relates generally to a ligand for a protein associated with modulating obesity, diabetes and (21) Appl. No.: 10/545,099 metabolic energy levels in animals including humans. More (22) PCT Fed: Feb. 10, 2004 particularly, the present invention provides a ligand of the protein, Beacon, and its homologs. The identification of a (86) PCT No.: PCT/AUO4/OO147 Beacon ligand permits the identification of agents which agonize or antagonize the Beacon-ligand interaction and, S 371(c)(1), hence, the development of therapeutic molecules useful in (2), (4) Date: May 4, 2006 modulating obesity, diabetes and/or energy imbalance. Patent Application Publication Jun. 14, 2007 Sheet 1 of 5 US 2007/0135335 A1 ?º?uOIO VIºInáH Patent Application Publication Jun. 14, 2007 Sheet 2 of 5 US 2007/0135335 A1 (II9.InáÃC)Iaun????9.InáH Patent Application Publication Jun.
    [Show full text]