Genetic disorders linked to molecular defects in ribosomal biogenesis
Disease . | Gene defect . | Clinical features . |
---|---|---|
X-linked dyskeratosis congenita | DKC1 | Abnormal skin pigmentation, nail dystrophy, bone marrow failure, cancer, others |
Cartilage-hair hypoplasia | RMRP | Skeletal defects and short stature, hypoplastic anemia, lymphoma, others |
Diamond-Blackfan anemia | RPS19 | Bone marrow failure, craniofacial abnormalities, cancer, others |
Shwachman-Diamond syndrome | SBDS | Bone marrow failure, pancreatic insufficiency, short stature, leukemia, others |
Treacher Collins syndrome | TCOF1 | Craniofacial abnormalities |
Disease . | Gene defect . | Clinical features . |
---|---|---|
X-linked dyskeratosis congenita | DKC1 | Abnormal skin pigmentation, nail dystrophy, bone marrow failure, cancer, others |
Cartilage-hair hypoplasia | RMRP | Skeletal defects and short stature, hypoplastic anemia, lymphoma, others |
Diamond-Blackfan anemia | RPS19 | Bone marrow failure, craniofacial abnormalities, cancer, others |
Shwachman-Diamond syndrome | SBDS | Bone marrow failure, pancreatic insufficiency, short stature, leukemia, others |
Treacher Collins syndrome | TCOF1 | Craniofacial abnormalities |
Of this group, only Treacher Collins syndrome is not associated with bone marrow failure.