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Cockayne syndrome type 3
3 OMIM references -
2 associated genes
35 connected diseases
No signs/symptoms info
Disease Type of connection
Cockayne syndrome type 1
UV-sensitive syndrome
Cockayne syndrome type 2
COFS syndrome
Familial pancreatic carcinoma
Li-Fraumeni syndrome
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 A
Xeroderma pigmentosum complementation group D
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Primary peritoneal carcinoma
3M syndrome
Fanconi anemia
Isolated CoQ-cytochrome C reductase deficiency
Mandibular hypoplasia-deafness-progeroid syndrome
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Williams syndrome
Xeroderma pigmentosum complementation group B
Xeroderma pigmentosum complementation group E
Xeroderma pigmentosum complementation group F
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:
(no data available)
External references:
3 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
ERCC6 Q03468609413
ERCC8 Q13216609412
No signs/symptoms info available.