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Disease Cockayne Syndrome

Name Cockayne Syndrome
Synonyms COCKAYNE SYNDROME A | COCKAYNE SYNDROME B | Cockayne Syndrome, Group A | Cockayne Syndrome, Group B | Cockayne Syndrome, Group C | Cockayne Syndrome Type 3 | Cockayne Syndrome, Type A | Cockayne Syndrome, Type B | Cockayne Syndrome Type C | Cockayne Syndrome, Type C | Cockayne Syndrome, Type I | Cockayne Syndrome, Type II | Cockayne Syndrome, Type III | CSA | CSB | Dwarfism-Retinal Atrophy-Deafness Syndrome | Group A Cockayne Syndrome | Group B Cockayne Syndrome | Group C Cockayne Syndrome | Progeria Like Syndrome | Progeria-Like Syndrome | Progeria-Like Syndromes | Progeroid Nanism | Syndrome, Cockayne | Syndrome, Progeria-Like | Type A Cockayne Syndrome | Type B Cockayne Syndrome | Type C Cockayne Syndrome | Type I Cockayne Syndrome | Type II Cockayne Syndrome | Type III Cockayne Syndrome
Definition A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled DNA REPAIR processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth with severe symptoms; type III (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms.
Categories Congenital abnormality | Genetic disease (inborn) | Metabolic disease | Musculoskeletal disease | Nervous system disease
MeSH® ID D003057
OMIM® IDs 133540 | 216400
External Links

Top ↑ Ancestors

1. DiseasesMusculoskeletal Diseases Has associated chemicals Has associated genes Has associated exposure references Bone Diseases Has associated chemicals Has associated genes Has associated exposure references Bone Diseases, Developmental Has associated chemicals Has associated genes Dwarfism Has associated chemicals Has associated genes Cockayne Syndrome Has associated chemicals Has associated genes
2. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Neurodegenerative Diseases Has associated chemicals Has associated genes Has associated exposure references Heredodegenerative Disorders, Nervous System Has associated chemicals Has associated genes Cockayne Syndrome Has associated chemicals Has associated genes
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Abnormalities, Multiple Has associated chemicals Has associated genes Cockayne Syndrome Has associated chemicals Has associated genes
4. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Dwarfism Has associated chemicals Has associated genes Cockayne Syndrome Has associated chemicals Has associated genes
5. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Heredodegenerative Disorders, Nervous System Has associated chemicals Has associated genes Cockayne Syndrome Has associated chemicals Has associated genes
6. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references DNA Repair-Deficiency Disorders Has associated chemicals Has associated genes Cockayne Syndrome Has associated chemicals Has associated genes

Top ↑ Descendants

Cockayne Syndrome Has associated chemicals Has associated genes
  Cerebrooculofacioskeletal Syndrome 1 Has associated chemicals Has associated genes
  Cerebrooculofacioskeletal Syndrome 3
  FORSYTHE-WAKELING SYNDROME Has associated genes
  Xeroderma Pigmentosum B-Cockayne Syndrome
  Xeroderma Pigmentosum, Type G-Cockayne Syndrome
  XFE Progeroid Syndrome Has associated chemicals Has associated genes