Mendelian Diseases
Multifactorial Diseases
Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency

OMIM:230450
Mode of inheritance:Autosomal recessive
Disease classification:Disorders involving the immune mechanism


Mutations

Gene SymbolGCLC
Reference transcriptNM_001498.3
DNA Changec.1241C>T
A.A. Changep.Pro414Leu
Exon/Intronexon 11
Mutation Typesubstitution
ReferenceManu Pereira M, Gelbart T, Ristoff E, Crain KC, Bergua JM, Lopez Lafuente A, Kalko SG, Garcia Mateos E, Beutler E, Vives Corrons JL.Chronic non-spherocytic hemolytic anemia associated with severe neurological disease due to gamma-glutamylcysteine synthetase deficiency in a patient of Moroccan origin.
Haematologica. 2007 Nov;92(11):e102-5.