TRNT1, tRNA nucleotidyl transferase 1, 51095

N. diseases: 40; N. variants: 15
Disease: Sideroblastic anemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002896
Disease: Sideroblastic anemia
Sideroblastic anemia 		0.430 GeneticVariation disease BEFREE Here we report the case of a 12-year-old boy without sideroblastic anemia who harbors novel compound heterozygous mutations in TRNT1. 30758723 2019
CUI: C0002896
Disease: Sideroblastic anemia
Sideroblastic anemia 		0.430 Biomarker disease BEFREE Other clinical manifestations of SIFD include cardiomyopathy, seizures, sensorineural hearing loss, renal dysfunction, metabolic abnormalities, hepatosplenomegaly and retinitis pigmentosa.Presentation of SIFD is variable but typically in early childhood with SA or with fever. 29055896 2018
CUI: C0002896
Disease: Sideroblastic anemia
Sideroblastic anemia 		0.430 GeneticVariation disease BEFREE Inactivating mutations in TRNT1 have been previously shown to cause a severe congenital syndrome of sideroblastic anemia, B-cell immunodeficiency, recurrent fevers and developmental delay (SIFD). 26494905 2016
CUI: C0002896
Disease: Sideroblastic anemia
Sideroblastic anemia 		0.430 Biomarker disease HPO
CUI: C0002896
Disease: Sideroblastic anemia
Sideroblastic anemia 		0.430 Biomarker disease GENOMICS_ENGLAND