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dyskeratosis congenita, autosomal recessive 1

Disease Summary
Associated Targets (3)
Tbio

2

Tchem

1


GARD Rare
Mondo Description A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA3 on chromosome 15q14.
Uniprot Description A rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy.
Mondo Term and Equivalent IDs
MONDO:0009136:  dyskeratosis congenita, autosomal recessive 1
GARD:0006300: 
MESH:C565611: 
SCTID:707272006: 
UMLS:C1857144: