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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; Dwarfism-Retinal Atrophy-Deafness Syndrome; Group A Cockayne Syndrome; Group B Cockayne Syndrome; Group C Cockayne Syndrome; Progeroid Nanism; 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: 470 relevant articles (1 outcomes, 17 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

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

Experts

1. Bohr, Vilhelm A: 31 articles (01/2021 - 02/2002)
2. Tanaka, Kiyoji: 14 articles (06/2016 - 01/2002)
3. Saijo, Masafumi: 13 articles (03/2022 - 01/2002)
4. Wilson, David M: 12 articles (01/2021 - 01/2007)
5. Stevnsner, Tinna: 12 articles (01/2014 - 12/2002)
6. Proietti-De-Santis, Luca: 11 articles (03/2022 - 05/2006)
7. Fan, Hua-Ying: 11 articles (02/2022 - 03/2008)
8. Vermeulen, Wim: 11 articles (12/2021 - 09/2002)
9. Lake, Robert J: 10 articles (02/2022 - 01/2010)
10. Egly, Jean-Marc: 9 articles (12/2020 - 07/2004)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Cockayne Syndrome:
1. Proteins (Proteins, Gene)FDA Link
2. DNA (Deoxyribonucleic Acid)IBA
3. Staphylococcal Protein A (Protein A)IBA
4. UbiquitinIBA
5. EndonucleasesIBA
10/17/2023 - "Xeroderma pigmentosum-Cockayne syndrome complex (XP-CS) is exceedingly rare, with 43 cases described over the past five decades; 21 of these cases exhibited mutations in the ERCC5 endonuclease associated with xeroderma pigmentosum, group G.We report the first known phenotypic characterisation of the homozygous chromosome 13 ERCC5, Exon 11, c.2413G>A (p.Gly805Arg) missense mutation in a female toddler presenting with findings of both XP and CS.Her"
03/01/2006 - "The severe xeroderma pigmentosum/Cockayne syndrome (XP/CS) syndrome is caused by mutations in the XPB, XPD and XPG genes that encode the helicase subunits of TFIIH and the 3' endonuclease of nucleotide excision repair (NER). "
04/01/2001 - "Defects in the XPG DNA repair endonuclease gene can result in the cancer-prone disorders xeroderma pigmentosum (XP) or the XP-Cockayne syndrome complex. "
01/01/2022 - "In the absence of Senataxin, the Cockayne syndrome protein CSB was required for the recruitment of the transcription-coupled repair endonucleases (XPG and XPF) and RAD52 recombination protein to target and resolve transcription bubbles containing R-loops, leading to genomic instability. "
02/01/2002 - "Mildly affected xeroderma pigmentosum group G patients have diminished XPG endonuclease activity in nucleotide excision repair, whereas severely affected xeroderma pigmentosum group G/Cockayne syndrome patients produce truncated XPG proteins that are unable to function in either nucleotide excision repair or the transcription-coupled repair of oxidative lesions. "
6. Pyrimidine DimersIBA
7. Dihydrotachysterol (AT 10)IBA
8. Cisplatin (Platino)FDA LinkGeneric
9. Metronidazole (Metric)FDA LinkGeneric
10. Ligases (Synthetase)IBA

Therapies and Procedures

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