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Cockayne syndrome type 2
2 OMIM references -
3 associated genes
40 connected diseases
No signs/symptoms info
Disease Type of connection
Cockayne syndrome type 1
COFS syndrome
UV-sensitive syndrome
Cockayne syndrome type 3
Fanconi anemia
Familial pancreatic carcinoma
Li-Fraumeni syndrome
Xeroderma pigmentosum complementation group A
Xeroderma pigmentosum complementation group F
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Essential thrombocythemia
Giant cell glioblastoma
Gliosarcoma
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
Cabezas syndrome
Trichothiodystrophy
Dedifferentiated liposarcoma
Well-differentiated liposarcoma
Familial prostate cancer
Hereditary breast and ovarian cancer syndrome
Xeroderma pigmentosum complementation group G
Xeroderma pigmentosum complementation group D
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Primary peritoneal carcinoma
3M syndrome
Constitutional mismatch repair deficiency syndrome
Hereditary nonpolyposis colon cancer
Isolated CoQ-cytochrome C reductase deficiency
Mandibular hypoplasia-deafness-progeroid syndrome
Muir-Torre syndrome
Non-polyposis Turcot syndrome
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Spinocerebellar ataxia type 17
Williams syndrome
Xeroderma pigmentosum complementation group B
Xeroderma pigmentosum complementation group E
Osteosarcoma
Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare otorhinolaryngologic disease
- Rare skin disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
External references:
2 OMIM references -
No MeSH references

Gene symbol UniProt reference OMIM reference
ERCC1 P07992126380
ERCC6 Q03468609413
ERCC8 Q13216609412
No signs/symptoms info available.