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Cockayne Syndrome (Syndrome, Cockayne)

A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled DNA REPAIR processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth with severe symptoms; type III (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms.
Also Known As:
Syndrome, Cockayne; Progeria Like Syndrome; Cockayne Syndrome Type 3; Cockayne Syndrome Type C; Cockayne Syndrome, Group A; Cockayne Syndrome, Group B; Cockayne Syndrome, Group C; Cockayne Syndrome, Type A; Cockayne Syndrome, Type B; Cockayne Syndrome, Type C; Cockayne Syndrome, Type I; Cockayne Syndrome, Type II; Cockayne Syndrome, Type III; Group A Cockayne Syndrome; Group B Cockayne Syndrome; Group C Cockayne Syndrome; Type A Cockayne Syndrome; Type B Cockayne Syndrome; Type C Cockayne Syndrome; Type I Cockayne Syndrome; Type II Cockayne Syndrome; Type III Cockayne Syndrome; Progeria-Like Syndromes; Syndrome, Progeria-Like; Progeria-Like Syndrome
Networked: 398 relevant articles (1 outcomes, 12 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Rare Diseases (Rare Disease)
2. Xeroderma Pigmentosum (Kaposi's Disease)
3. Neoplasms (Cancer)
4. Progeria (Hutchinson Gilford Syndrome)
5. Werner Syndrome (Werner's Syndrome)

Experts

1. Bohr, Vilhelm A: 22 articles (11/2014 - 02/2002)
2. Tanaka, Kiyoji: 12 articles (09/2015 - 07/2002)
3. Egly, Jean-Marc: 10 articles (02/2015 - 07/2004)
4. Sarasin, Alain: 9 articles (06/2015 - 09/2002)
5. Stevnsner, Tinna: 9 articles (01/2014 - 12/2002)
6. Berneburg, M: 8 articles (12/2012 - 01/2000)
7. Vermeulen, Wim: 7 articles (11/2014 - 09/2002)
8. Hoeijmakers, Jan H J: 7 articles (11/2014 - 07/2004)
9. Wilson, David M: 7 articles (11/2014 - 01/2007)
10. Kraemer, Kenneth H: 7 articles (07/2013 - 06/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Cockayne Syndrome:
1. Neurocutaneous melanosisIBA
2. Proteins (Proteins, Gene)IBA
3. TrichothiodystrophyIBA
4. DNA (Deoxyribonucleic Acid)IBA
5. Staphylococcal Protein A (A, Protein)IBA
6. Pyrimidine DimersIBA
7. UbiquitinIBA
8. Interferon-betaIBA
9. DNA-Formamidopyrimidine Glycosylase (Formamidopyrimidine DNA Glycosylase)IBA
10. Hydrogen Peroxide (Hydroperoxide)FDA LinkGeneric

Therapies and Procedures

1. Drug Therapy (Chemotherapy)
2. General Anesthesia
3. Deep Brain Stimulation
4. Cochlear Implantation
5. Fundoplication