1. Cockayne Syndrome Genes and disease provides a short description of this inherited disorder.Category Health Conditions and Diseases cockayne syndrome...... cockayne syndrome is a rare inherited disorder in which people are sensitive tosunlight, have short stature and have the appearance of premature aging. http://www.ncbi.nlm.nih.gov/disease/Cockayne.html

This Genes and Disease page has been moved to: Please update your bookmarks. If you are not automatically transported to the new page after 15 seconds, click on this link Genome View CSA on chromosome 5 Databases PubMed the literature LocusLink collection of gene-related information OMIM catalog of human genes and disorders EDWARD ALFRED COCKAYNE (1880-1956), after whom this disease is named, was a London physician who concentrated particularly on hereditary diseases of children. Cockayne syndrome is a rare inherited disorder in which people are sensitive to sunlight, have short stature and have the appearance of premature aging. In the classical form of Cockayne syndrome (Type I), the symptoms are progressive and typically become apparent after the age of one year. An early onset or congenital form of Cockayne syndrome (Type II) is apparent at birth. Interestingly, unlike other DNA repair diseases, Cockayne syndrome is not linked to cancer. After exposure to UV radiation (found in sunlight), people with Cockayne syndrome can no longer perform a certain type of DNA repair, known as 'transcription-coupled repair'. This type of DNA repair occurs 'on the fly', right as the DNA that codes for proteins is being replicated. Two genes defective in Cockayne syndrome, CSA and CSB, have been identified so far. The CSA gene is found on chromosme 5. Both genes code for proteins that interacts with components of the transcriptional machinery and with DNA repair proteins. Escherichia coli, a bacterium, also undergoes transcription-coupled repair, and a yeast counterpart of the CSB gene has also recently been discovered. These similar mechanisms to the one found in humans are invaluable for studying the molecular processes involved in transcription-coupled repair because powerful molecular genetics techniques can be used. A better understanding of the mechanisms involved will help unravel the pathogenesis of disease and may identify potential drug targets.

2. Pediatric Database A definition of cockayne syndrome, the epidemiology, pathogenesis, pathology, clinical features, investigations and management. http://www.icondata.com/health/pedbase/files/COCKAYNE.HTM

Pediatric Database (PEDBASE) Discipline: CNS Last Updated: 12/24/94 COCKAYNE SYNDROME DEFINITION: A neurodegenerative disorder characterized by degeneration of CNS white matter resulting in neurological, ocular, cutaneous, and musculoskeletal manifestations. EPIDEMIOLOGY: incidence: rare (about 60 cases reported) age of onset: first 6 months of life (photosensitive dermatitis) risk factors: familial - autosomal recessive chrom.#: ? gene: ? M = F PATHOGENESIS: 1. Background etiology unknown theories range from a leukodystrophy to a deficiency of an enzyme involved in the repair of cellular DNA following damage by UV light or chemical mutagens normal in the first 6 months of life (except for a photosensi-tive dermatitis) followed by a drastic and progressive decline in physical and mental development (developmental delay begins in the 2nd half of the first year of life) eventually leading to dwarfism and mental retardation PATHOLOGY: 1. Central and Peripheral Nervous System segmental demyelination with preserved islands of myelin findings consistent with a degenerative process diffuse proliferation of bizarre astrocytes neurofibrillary tangles TYPES: Type I - Late-Onset Type II - Prenatal-Onset CLINICAL FEATURES: 1. Type I - Late-Onset

3. Cockayne Syndrome Homepage Offering disease details, FAQs, tests and research, and news. Includes a support group, events, and links to other resources. http://www.cockayne-syndrome.org/

4. EMedicine - Cockayne Syndrome : Article By Suzanne M Carter, MS Synonyms and related keywords cockayne syndrome type A, CS, CAS, excisionrepair cross-complementing group 8, ERC8, http://www.emedicine.com/ped/topic424.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Cockayne Syndrome Last Updated: April 26, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: Cockayne syndrome type A, CS, CAS, excision-repair cross-complementing group 8, CKN1, cachectic dwarfism, growth failure, premature aging, pigmentary retinal degeneration, Cockayne syndrome type B, , CS type 1, CS type 2 AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Suzanne M Carter, MS , Senior Genetic Counselor, Associate, Department of Obstetrics and Gynecology, Division of Reproductive Genetics, Montefiore Medical Center, Albert Einstein College of Medicine Coauthor(s): Susan J Gross, MD, FRCS(C), FACOG, FACMG , Codirector, Division of Reproduction Genetics, Associate Professor, Department of Obstetrics and Gynecology, Albert Einstein College of Medicine Suzanne M Carter, MS, is a member of the following medical societies:

5. The Family Village: Cockayne Syndrome Who to Contact This is an international network that was founded in 1981. It offers mutual support and networking for families affected by cockayne syndrome (cachectic dwarfism). cockayne syndrome. Who to Contact. Where to Go to Chat with Others http://www.familyvillage.wisc.edu/lib_cock.htm

Cockayne Syndrome Who to Contact Where to Go to Chat with Others Learn More About It Web Sites ... Search AltaVista for "Cockayne Syndrome" Who to Contact Share and Care Cockayne Syndrome Network P.O. Box 552 Stanleytown, VA 24168 540/647-3739 (fax) E-mail: cockayne@kimbanet.com Web: http://www.kimbanet.com/~cockayne/ This is an international network that was founded in 1981. It offers mutual support and networking for families affected by Cockayne Syndrome (cachectic dwarfism). This includes the sharing of information between families and professionals, maintaining a registry of families, and providing referral information, a newsletter, phone support, and pamphlets (which are available in English, Spanish and Japanese). Where to Go to Chat with Others We are unaware of any discussion forums specifically for this diagnosis. However, there are several forums that may be of interest to parents of children with disabilities or special health care needs regardless of diagnosis. See General Disability On-Line Discussion Groups Learn More About It Cockayne Syndrome From the National Organization for Rare Disorders, Inc. (NORD)

6. GeneReviews: Cockayne Syndrome Your browser does not support HTML frames so you must view cockayne syndromein a slightly less readable form. Please follow this link to do so. http://www.geneclinics.org/profiles/cockayne/

Your browser does not support HTML frames so you must view Cockayne Syndrome in a slightly less readable form. Please follow this link to do so.

7. Entrez-PubMed Click here to read The cockayne syndrome group B gene product is involvedin general genome base excision repair of 8hydroxyguanine in DNA. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

8. NORD - Cockayne Syndrome Offers the synonyms, a general discussion and resources. http://www.stepstn.com/cgi-win/nord.exe?proc=Redirect&type=rdb_sum&id=17

9. What Is Cockayne Syndrom Homepage (CockayneSyndrome.org). What is cockayne syndrome? What is cockayne syndrome? Wheredoes the name come from? Go to Top. What is cockayne syndrome? http://www.cockayne-syndrome.org/English/US_What_is_CS.htm

What is Cockayne Syndrome? What is Cockayne Syndrome? What are the Characteristic Features of CS? CS Development over the years (pictures) How is CS Inherited? ... Where does the name come from? What is Cockayne Syndrome? Cockayne Syndrome (CS) is a rare form of dwarfism. It is genetic and recessively inherited. CS type I or classic CS is the most common form in which the first year of life is basically normal with the onset of symptoms in the second year of life. With CS type II or early-onset CS, the symptoms are displayed within the first year. A mild form of CS has been identified in which children have only a few characteristics. What are the Characteristic Features of CS? The following is a list of the most common characteristics noted in reported cases of CS. No one child will necessarily have all the features listed. Normal first year with onset of symptoms in the second year Dwarfism Microcephaly (small head) Neurodevelopmental delay (progressive) Mental deficiency (progressive) Unsteady gait Sunburns easily Retinopathy and/or cataracts (progressive) Hearing loss (progressive) Dental caries Typical facial appearance: Pinched facies Sunken eyes Beaked nose Prognathism (projecting jaw) Loss of subcutaneous fat Premature aging Shortened lifespan CS-Development over the Years Pictures from Baptiste provided by his father Eric Bixel , France.

10. Cockayne Syndrome From Pediatrics / Genetics And Metabolic Disease cockayne syndrome cockayne syndrome (CS) spans a spectrum that includes CS type 1, the classic form; CS type 2, a more severe form with Genetics And Metabolic Disease. cockayne syndrome. Synonyms, Key Words, and Related Terms cockayne syndrome type A, CS, http://author.emedicine.com/PED/topic424.htm

eMedicine Journal Pediatrics Genetics And Metabolic Disease Cockayne Syndrome Synonyms, Key Words, and Related Terms: Cockayne syndrome type A, CS, CAS, excision-repair cross-complementing group 8, CKN1, cachectic dwarfism, growth failure, premature aging, pigmentary retinal degeneration, Cockayne syndrome type B, , CS type 1, CS type 2 Author Information Introduction Clinical Differentials ... Bibliography AUTHOR INFORMATION Section 1 of 11 Authored by Suzanne M Carter, MS , Senior Genetic Counselor, Associate, Department of Obstetrics and Gynecology, Division of Reproductive Genetics, Montefiore Medical Center, Albert Einstein College of Medicine Coauthored by Susan J Gross, MD, FRCS(C), FACOG, FACMG , Codirector, Division of Reproduction Genetics, Associate Professor, Department of Obstetrics and Gynecology, Albert Einstein College of Medicine Suzanne M Carter, MS, is a member of the following medical societies: American College of Medical Genetics Edited by Elaine H Zackai, MD , Director of Clinical Genetics Center, Professor of Pediatrics, Department of Pediatrics, Division of Human Genetics and Molecular Biology, University of Pennsylvania, Children's Hospital of Philadelphia; Robert Konop, PharmD

11. EMedicine - Cockayne Syndrome : Article By Suguru Imaeda, MD cockayne syndrome cockayne syndrome is a rare autosomal recessive, heterogeneous,multisystem disorder characterized by dwarfism, progressive pigmentary http://www.emedicine.com/derm/topic717.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Dermatology Pediatric Diseases Cockayne Syndrome Last Updated: November 12, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: CS-I, CS-II, classic Cockayne syndrome, severe Cockayne syndrome, dwarfism, progressive pigmentary retinopathy, birdlike facies, photosensitivity AUTHOR INFORMATION Section 1 of 9 Author Information Introduction Clinical Differentials ... Bibliography Author: Suguru Imaeda, MD , Chief of Health Services Dermatology, Clinical Associate Professor, Department of Dermatology, Yale University School of Medicine Suguru Imaeda, MD, is a member of the following medical societies: American Academy of Dermatology American Medical Association Connecticut State Medical Society Sigma Xi , and Society for Investigative Dermatology Editor(s): Jacek C Szepietowski, MD, PhD , Associate Professor, Department of Dermatology and Venereology, University of Medicine at Wroclaw, Poland; David F Butler, MD

12. Cockayne Syndrome cockayne syndrome. type of dysmyelinating disease autosomal recessive;onset usually within 2nd year. (?) variant of PelizaeusMerzbacher http://chorus.rad.mcw.edu/doc/00090.html

CHORUS Collaborative Hypertext of Radiology Nervous system Feedback Search Cockayne syndrome type of dysmyelinating disease autosomal recessive onset usually within 2nd year (?) variant of Pelizaeus-Merzbacher disease distinguish from Kearns-Sayre syndrome CT findings: microcephaly basal ganglion calcification cerebral atrophy Charles E. Kahn, Jr., MD - 7 July 1995 Last updated 14 March 2001 Medical College of Wisconsin

13. Kprones CockayneID10015 cockayne syndrome. Identity. Bibliography. The ATPase domain but not the acidicregion of cockayne syndrome groupe B gene product is essential for DNA repair. http://www.infobiogen.fr/services/chromcancer/Kprones/CockayneID10015.html

Atlas of Genetics and Cytogenetics in Oncology and Haematology Home Genes Leukemias Solid Tumours ... NA Cockayne syndrome Identity Inheritance Autosomal recessive Clinics Phenotype and clinics normal newborn; growth failure from the age of six months; diagnosis from the age of two years on : senile appearance of the skin (pigmentation, atrophy) with "mickey mouse" aspect (microcephaly, large ears, large nose, deep set eyes). "senil dwarf" aspect in contrast with long limbs, large hands and feet, cold fingers with cyanosis, flexion contractures of joints sensitivity to sunligth severe encephalopathia with profond mental retardation and sensory disorders (deafness, optic atrophy) pigmentary retinitis leading to cecity other disorders: hypertension, early atherosclerosis, intracranial calcification, glomerulosclerosis. Neoplastic risk no increased susceptibility to skin tumors and other cancers, except for Cockayne syndrome expressing xeroderma pigmentosum (XP) symptoms (association with XPG, XPD or XPB group) Evolution clinical heterogeneity, but early death from cachexia and dementia, early cutaneous tumors and atherosclerosis.

14. Gene CSAID301 X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA. CSA (Cockaynesyndrome A). Identity. Implicated in. Entity, cockayne syndrome, CS group A. http://www.infobiogen.fr/services/chromcancer/Genes/CSAID301.html

Atlas of Genetics and Cytogenetics in Oncology and Haematology Home Genes Leukemias Solid Tumours ... Nucleotide Excision Repair Other names Hugo Location CSA (5) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics . Laboratories willing to validate the probes are welcome : contact rocchi@biologia.uniba.it DNA/RNA Transcription 2011 b Protein Description 396 amino acids - 44 kDa Function The Cockayne syndrome group A (CSA) gene encodes a WD repeat protein that interacts with the Cockayne syndrome group B ( CSB ) protein and a subunit of RNA polymerase II transcription factor TFIIH suggesting that the products of CSA and CSB genes are involved in transcription. The CSA defect leads to defective strand specific repair of transcriptionally active genes. Mutations Germinal one base substitution Implicated in Entity Cockayne syndrome, CS group A Disease The Cockayne syndrome A is characterized by sensitivity to sunlight, dwarfism, precociously senile appearance, pigmentary retinal degeneration, optic atrophy and deafness. External links Hugo Genes Cyto Gene Seq [Map View - NCBI] GeneCards GDB Genatlas LocusLink ... Genbank [ SRS ] [ ENTREZ ] RefSeq [ SRS ] [ ENTREZ ] Unigene Hs.32967

15. Cockayne Syndrome Image that's a link to Genetics Education Center Support Page Cockaynesyndrome. Share and Care cockayne syndrome Network Inc. PO http://www.kumc.edu/gec/support/cockayne.html

Cockayne syndrome Share and Care Cockayne Syndrome Network Inc. P.O. Box 570618 Dallas, TX 75357 USA Phone:1 866-cockayne (Toll free) Fax: 001 (972) 613-4590 E-mail: J93082@aol.com Web page: http://www.cockayne-syndrome.org/ Also See: National organizations , genetic conditions / birth defects resources To locate a genetic counselor or clinical geneticist in your area: Professional Genetics Societies Genetic clinics, centers, departments Revised February 22, 2002 Genetic Societies Clinical Resources Labs Clinics ... Search Genetics Education Center Debra Collins, M.S. CGC , Genetic Counselor, dcollins@kumc.edu This site subscribes to the principles of the HONcode (Health on the Net, Code of Conduct for Medical and Health Web Sites) of the Health On the Net Foundation

16. What Is Cockayne Syndrome? What is cockayne syndrome? cockayne syndrome (Cockayne's syndrome; CS)is a rare genetic disease with autosomal recessive inheritance http://members.aol.com/DBBusch/shareandcare.whatisCS.html

What is Cockayne syndrome? Cockayne syndrome (Cockayne's syndrome; CS) is a rare genetic disease with autosomal recessive inheritance, meaning that the disease is inherited by an expected 1/4 of the children of apparently healthy parents. It is seen in about 1/100,000 live births, and affects all ethnic groups. Among the problems encountered in CS are: developmental delay, extremely short stature, poor weight gain, poor feeding, premature aging, extreme sunsitivity to sunlight and to other UV sources, cataracts (12 year life expectancy if present at birth), pigmentary retinopathy (retinitis pigmentosum) and blindness, "nerve" (sensorineural) deafness, severe tooth decay, and calcium deposits in the brain. CS patients tend to have faces with small chins, prominent and pointed noses, and ears that are unusually large for the head size. Their eyes tend to be sunken as one result of their abnormally low body fat, including under the skin on the face and elsewhere. To go to home page, click here. Share and Care Home Page

17. Cockayne Syndrome cockayne syndrome Guide picks. GeneClinics cockayne syndrome Informationfor physicians and researchers from the University of Washington. http://rarediseases.about.com/cs/cockaynesyndrome/

zfp=-1 About Rare/Orphan Diseases Search in this topic on About on the Web in Products Web Hosting Rare/Orphan Diseases with Mary Kugler Your Guide to one of hundreds of sites Home Articles Forums ... Help zmhp('style="color:#fff"') Subjects BUYER'S GUIDE Before You Buy Top Picks Sites for Online Specialty Shopping ... All articles on this topic Stay up-to-date! Subscribe to our newsletter. Advertising Free Credit Report Free Psychics Advertisement Cockayne Syndrome Guide picks A rare inherited disorder in which people are sensitive to sunlight, have short stature and the appearance of premature aging. Cockayne Syndrome New Feature article describes the disorder, its symptoms, and treatment. From the About.com Guide to Rare/Orphan Diseases. Dermatology Online Atlas (DOIA) Information in English and German, including photos. GeneClinics: Cockayne Syndrome Information for physicians and researchers from the University of Washington. NCBI: Cockayne Syndrome Excellent, concise information about the syndrome, from the National Center for Biotechnology Information (U.S.). Share and Care Cockayne Syndrome Network Information in English, Spanish, and German, and addresses for support in various countries.

18. COCKAYNE SYNDROME Features Listed For cockayne syndrome. McKusick 216400. Absent or sparsetears; Acetabulum, general abnormalities; Ataxia; Autonomic dysfunction; http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?326

19. Cockayne, Syndrome : Sites Et Documents Francophones Translate this page Synonyme(s) nanisme progeroide. Voir aussi retard mental . Arborescence(s) duthesaurus MeSH contenant le mot-clé Cockayne, syndrome cockayne syndrome http://www.chu-rouen.fr/ssf/pathol/cockaynesyndrome.html

Cockayne, Syndrome Menu général CISMeF Synonyme(s) nanisme progeroide Voir aussi retard mental Arborescence(s) Cockayne, syndrome Cockayne syndrome appareil locomoteur, maladies endocrinopathies maladies et malformations congénitales, héréditaires et néonatales système nerveux, maladies Position du mot-clé dans l' (les) arborescence(s) : Vous pouvez consulter toutes les ressources ou seulement les principales ou utiliser l' outil de recherche les recommandations les documents concernant l' enseignement les documents destinés aux patients 20 janvier 2003 courriel Menu général CISMeF Haut de page © CHU de Rouen . Toute utilisation partielle ou totale de ce document doit mentionner la source.

20. Cockayne Syndrome cockayne syndrome Home Up What is XP? Contacts Links Feedback Guestbook Search SiteMap. Home Up, The Share and Care cockayne syndrome Network, Inc. English. http://xpsupportgroup.org.uk/xpsg/links/cockayne_syndrome.htm

The Share and Care Cockayne Syndrome Network, Inc. Our Homepage is http://www.cockayne-syndrome.org Our Coordinator is: Shirley Rodriguez Send email to: J93082@AOL.COM Tel.: 1-866-cockayne (Toll free in the US) Click here for: Contact Information webmaster@xpsupportgroup.org.uk

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