You are using an outdated browser. Please upgrade your browser to improve your experience.

Cockayne syndrome type 1

Disease Summary
Associated Targets (3)
Tbio

3


GARD Rare
Mondo Description Cockayne syndrome caused by mutation(s) in the ERCC8 gene, encoding DNA excision repair protein ERCC-8.
Uniprot Description A rare disorder characterized by cutaneous sensitivity to sunlight, abnormal and slow growth, cachectic dwarfism, progeroid appearance, progressive pigmentary retinopathy and sensorineural deafness. There is delayed neural development and severe progressive neurologic degeneration resulting in mental retardation. Two clinical forms are recognized: in the classical form or Cockayne syndrome type 1, the symptoms are progressive and typically become apparent within the first few years or life; the less common Cockayne syndrome type 2 is characterized by more severe symptoms that manifest prenatally. Cockayne syndrome shows some overlap with certain forms of xeroderma pigmentosum. Unlike xeroderma pigmentosum, patients with Cockayne syndrome do not manifest increased freckling and other pigmentation abnormalities in the skin and have no significant increase in skin cancer.
Mondo Term and Equivalent IDs
MONDO:0019569:  Cockayne syndrome type 1
GARD:0001415: 
NCIT:C135725: 
Orphanet:90321: 
UMLS:C0751039: