Table 1.

List of gene defects associated to ribosomopathies and their related diseases (Adapted from [114]).

Gene Defect	Impaired Function	Disease	Clinical Features	Treatment	References
RPS19, RPS26, RPL5, RPL11 and other RPs	Different steps of pre-rRNA processing	Diamond Blackfan anemia (DBA)	Anemia, bone marrow failure, growth retardation, congenital abnormalities (craniofacial, thumb), cardiac defects, cancer predisposition.	Corticosteroids, blood transfusions, hematopoietic stem cell transplantation	[115,116,117,118,119,120,121]
RPS14	18S pre-rRNA processing	5q-syndrome	Severe macrocytic anemia, cancer predisposition	Lenalidomide	[122,123]
SBDS	Maturation and export of the 60S ribosomal subunit	Shwachman-Diamond syndrome (SDS)	Exocrine pancreas insufficiency, hematologic defects, skeletal abnormalities, cancer predisposition	Pancreatic enzyme supplementation, hematopoietic stem cell transplantation	[124,125,126]
DKC1	Telomerase deficiency, disease aggravated by box H/ACA snoRNP pseudouridylation defects, involved in pre-rRNA modification.	X-linked dyskeratosis congenita (DC)	Mucocutaneous abnormalities, pulmonary fibrosis, bone marrow failure, cancer predisposition	Oxymetolone, Hematopoietic stem cell transplantation	[127,128,129]
RMRP	Maturation of 5.8S rRNA of 60S ribosomal subunit; degradation of cell-cycle regulated RNAs; mitochondrial DNA replication	Cartilage-hair hypoplasia (CHH)	Short stature, hair hypoplasia, bone deformities, cancer predisposition	Symptomatic	[130,131]
TCOF1	rDNA transcription and methylation of 18S rRNA	Treacher-Collins syndrome (TCS)	Craniofacial abnormalities	Symptomatic	[132,133,134]
EMG1	Maturation of 40S ribosomal subunit	Bowen-Conradi syndrome	Severe growth retardation	None	[135,136,137]
hUTP4/Cirhin	Maturation of the 18S pre-rRNA	North American Indian childhood cirrhosis	Biliary cirrhosis, lethal by adolescence without liver transplant	Liver transplantation	[114,138,139]