Geometry.Net - Health_Conditions: Cockayne Syndrome

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

Extractions: 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.
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

Extractions: Pediatric Database (PEDBASE) Discipline: CNS Last Updated: 12/24/94 A neurodegenerative disorder characterized by degeneration of CNS white matter resulting in neurological, ocular, cutaneous, and musculoskeletal manifestations. risk factors: M = F Type I - Late-Onset Type II - Prenatal-Onset 1. Type I - Late-Onset
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/
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

Extractions: (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 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:
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

Extractions: 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). Cockayne Syndrome
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/
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
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
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

Extractions: 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:
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

Extractions: 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
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

Extractions: (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 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
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
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

Extractions: Home Genes Leukemias Solid Tumours ... NA 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.
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

Extractions: 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
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
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

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

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