Research Evidence
Peer-reviewed studies linked via MeSH term "Cockayne Syndrome" from the MEDLINE/PubMed database.
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Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.
[object Object], [object Object], [object Object] et al. · Hum Mutat · 2010
PMID: 19894250Meta-Analysis
Exploring the interaction between nucleotide excision repair pathways and Huntington disease: Implications for neurodegeneration and phenotypic overlap.
[object Object], [object Object], [object Object] et al. · Parkinsonism Relat Disord · 2025
PMID: 41130868Review
Transcription-coupled repair of DNA-protein crosslinks.
[object Object], [object Object], [object Object] · Trends Cell Biol · 2025
PMID: 39617652Review
Transcription-coupled repair - mechanisms of action, regulation, and associated human disorders.
[object Object], [object Object], [object Object] et al. · FEBS Lett · 2025
Transcription-coupled repair: tangled up in convoluted repair.
[object Object], [object Object], [object Object] et al. · FEBS J · 2025
Insights Into Cockayne Syndrome Type B: What Underlies Its Pathogenesis?
[object Object], [object Object], [object Object] et al. · Aging Cell · 2025
ATP-Dependent Chromatin Remodeler CSB Couples DNA Repair Pathways to Transcription with Implications for Cockayne Syndrome and Cancer Therapy.
[object Object], [object Object], [object Object] · Cells · 2025
DNA repair deficiencies and neurodegeneration.
[object Object], [object Object], [object Object] · DNA Repair (Amst) · 2024
PMID: 38640601Review
Perspectives in the investigation of Cockayne syndrome group B neurological disease: the utility of patient-derived brain organoid models.
[object Object], [object Object], [object Object] et al. · J Zhejiang Univ Sci B · 2024
CS proteins and ubiquitination: orchestrating DNA repair with transcription and cell division.
[object Object], [object Object], [object Object] et al. · Trends Cell Biol · 2024
PMID: 38910038Review
Search all PubMed articles for Cockayne syndrome
Research data from MEDLINE/PubMed
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormality of RPE
Very frequent (80-99%)HP:0007703
Behavioural/Psychiatric abnormality
Very frequent (80-99%)HP:0000708
Cachexia
Very frequent (80-99%)HP:0004326
Growth delay as children
Very frequent (80-99%)HP:0008897
Infratentorial atrophy
Very frequent (80-99%)HP:0001272
Intellectual deterioration
Very frequent (80-99%)HP:0001268
Microcephaly, progressive
Very frequent (80-99%)HP:0000253
Progressive bilateral sensorineural hearing loss
Very frequent (80-99%)HP:0000408
Retinal pigmentary degeneration
Very frequent (80-99%)HP:0000580
Short stature, severe
Very frequent (80-99%)HP:0003510
Very poor growth
Very frequent (80-99%)HP:0001510
White matter dysmyelination/demyelination
Very frequent (80-99%)HP:0007266
Abnormal deposits of calcium in the brain
Frequent (30-79%)HP:0002514
Abnormal eye morphology
Frequent (30-79%)HP:0012372
Ataxia
Frequent (30-79%)HP:0001251
Basal ganglion calcification
Frequent (30-79%)HP:0002135
Breakdown of light-sensitive cells in back of eye
Frequent (30-79%)HP:0000556
Cataract
Frequent (30-79%)HP:0000518
Cerebellar dentate nucleus calcification
Frequent (30-79%)HP:0002461
Cerebral atrophy
Frequent (30-79%)HP:0002059
Cognitive deficits
Frequent (30-79%)HP:0100543
Congenital joint contractures
Frequent (30-79%)HP:0002803
Contractures of the large joints
Frequent (30-79%)HP:0005781
Cutaneous photosensitivity
Frequent (30-79%)HP:0000992
Decreased nerve conduction velocity
Frequent (30-79%)HP:0000762
Decreased visual acuity, progressive
Frequent (30-79%)HP:0000529
Deep set eye
Frequent (30-79%)HP:0000490
Demyelinating peripheral neuropathy
Frequent (30-79%)HP:0007108
Dental cavities
Frequent (30-79%)HP:0000670
Dry hair
Frequent (30-79%)HP:0011359
Related Conditions
Xeroderma pigmentosum and Cockayne syndrome complex(child)
Cockayne syndrome type 3(child)
Cockayne syndrome type 1(child)
Cockayne syndrome type 2(child)
Multiple malformation syndrome with senile-like appearance(parent)
Congenital anomaly of central nervous system(parent)
Hereditary disorder of nervous system(parent)
Hereditary neoplastic syndrome(parent)
Developmental hereditary disorder(parent)
Quick Facts
- SNOMED CT
- 21086008
- UMLS CUI
- C0009207
- Fully Specified Name
- Cockayne syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.