Details of Disease

General Information of Disease (ID: DISEQI8T)

• Disease Name: Cockayne spectrum with or without cerebrooculofacioskeletal syndrome
• Definition: An autosomal recessive, multisystem condition caused by pathogenic variants of the ERCC6 gene, encoding the DNA excision repair protein, ERCC-6. Cockayne spectrum with or without cerebrooculofacioskeletal syndrome is characterized by growth failure at birth, with little or no postnatal neurologic development in addition to congenital cataracts or other structural anomalies of the eye, early postnatal contractures of the spine (kyphosis, scoliosis) and joints, and death usually occurring by age five years. This term lumps Cockayne syndrome type 2/B (CSB), cerebrooculofacioskeletal syndrome 1 (COFS syndrome), and De Sanctis-Cacchione syndrome into a spectrum of disease.
• Disease Hierarchy:
  DISW6GL2: Cockayne syndrome
  DISEQI8T: Cockayne spectrum with or without cerebrooculofacioskeletal syndrome

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ERCC6	OT2QZKSF	Definitive	Autosomal recessive	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.