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Concept information

Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > Cockayne Syndrome
Nutritional and Metabolic Diseases > Metabolic Diseases > DNA Repair-Deficiency Disorders > Cockayne Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Dwarfism > Cockayne Syndrome
Musculoskeletal Diseases > Bone Diseases > Bone Diseases, Developmental > Dwarfism > Cockayne Syndrome
Endocrine System Diseases > Dwarfism > Cockayne Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Heredodegenerative Disorders, Nervous System > Cockayne Syndrome
Nervous System Diseases > Neurodegenerative Diseases > Heredodegenerative Disorders, Nervous System > Cockayne Syndrome

Terme préférentiel

Cockayne Syndrome  

Type

  • mesh:Descriptor

Définition

  • 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. Caused by mutations of gene ERCC6. Type C is a rare form. Its genetic defect is not clear; appears to be a heterogeneous group. OMIM suggests that Type C should not be used anymore. Caused by mutations of gene CKN1.

Concept générique

Concepts associés

Synonyme(s)

  • Dwarfism-Retinal Atrophy-Deafness Syndrome
  • Progeria-Like Syndrome
  • Progeroid Nanism

Qualificatif(s) autorisé(s)

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-ML42G6KZ-Q

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RDF/XML TURTLE JSON-LD Date de création 09/05/1980, dernière modification le 08/07/2013