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GENATLAS PHENOTYPE

last update : 17-10-2018

Symbol	DKC6
Location	5q35.3
Name	dyskeratosis congenita 6
Corresponding gene	NHP2
Other symbol(s)	DKCB2
Main clinical features	characterized by mucocutaneous abnormalities, bone marrow failure, and an increased predisposition to cancer sparse scalp hair and eyelashes, prominent periorbital telangiectasia, bilateral lacrimal duct obstruction, and hypoplastic/dysplastic nails
Genetic determination	autosomal recessive
Function/system disorder	dermatology
	hematology
Type	disease

Remark(s)

. mutations in dyskerin, NHP2 and NOP10 caused different defects in the assembly of H/ACA pre-RNPs (PMID: 20008900))