OnlineIMD
Methionyl-tRNA synthetase 1 deficiency
Synonym(s)
Interstitial lung and liver disease
Type
Disease
External link(s)
IEMbase
Gene
MARS1
/ Methionyl-tRNA Synthetase 1
12q13.3
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Methionyl-tRNA synthetase 1
Disease group(s)
16.4.2 Disorders of non-mitochondrial aminoacyl-tRNA synthetases
Child entries
Axonal Charcot-Marie-Tooth type 2U