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Cockayneov syndróm

Č. záznamu	d003057
Dátum	06.06.2025
Typ	M - MESH
Tematický termín	Cockayneov syndróm
Iný termín	Angličtina (Pseudonym) Progeria-Like Syndrome Slovenčina (Pseudonym) nanismus progeroides Slovenčina (Pseudonym) syndróm progeroidný
Pozri tiež	(Skutočné meno) postihnutie intelektuálne (Novšie záhlavie) progéria
MDT	C05.116.099.343.250C10.574.500.362C16.131.077.250C16.320.240.562C16.320.400.200C18.452.284.250
Poznámka	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.

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