Related MeSH Hierarchy (6)
Diseases [C] » Musculoskeletal Diseases [C05] » Bone Diseases » Bone Diseases, Developmental » Dwarfism » Cockayne Syndrome
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Congenital Abnormalities » Abnormalities, Multiple » Cockayne Syndrome
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Dwarfism » Cockayne Syndrome
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Heredodegenerative Disorders, Nervous System » Cockayne Syndrome
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » DNA Repair-Deficiency Disorders » Cockayne Syndrome
Diseases [C] » Nervous System Diseases [C10] » Neurodegenerative Diseases » Heredodegenerative Disorders, Nervous System » Cockayne Syndrome
Description
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. MeSH
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Organization Involved with Phase 2 Indications (5)
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UMLS Data
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