dyskeratosis congenita—autosomal recessive—2

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dyskeratosis congenita—autosomal recessive—22016-11-25T18:57:07+00:00

dyskeratosis congenita—autosomal recessive—2

GENETICS

Definition A rare disorder (OMIM:613987) caused by defective telomere maintenance, which is characterised by progressive bone marrow failure, and a clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. It is variably accompanied by premature greying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often linked to bone marrow failure, infections, pulmonary complications, or malignancy.

Molecular pathology Defects of NHP2, which encodes a small nucleolar ribonucleoprotein required for ribosome biogenesis and telomere maintenance, cause dyskeratosis congenita—autosomal recessive—2. 

References http://www.uniprot.org/uniprot/Q9NX24

http://www.omim.org/entry/613987

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