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dyskeratosis congenita autosomal dominant (ADDKC)

Is also known as dyskeratosis congenita Scoggins type. ADDKC is a rare, progressive bone marrow failure syndrome characterized by the triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. 

OTHER NAME(S): dyskeratosis congenita Scoggins type

TYPE: blood cell cancer, risk of malignant disease, skin problem, bone marrow failure

Related patway(s): telomere maintenance

DNAtraffic protein(s) related to disease: TERT (telomerase catalytic subunit), DKC1

OMIM: 127550

Last modification date: Aug. 23, 2011