Glutamate-cysteine ligase deficiency

A disorder that is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported.



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Narrow down the case reports



Total: 3 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(48.0%)		 28571779
 Clinical and molecular characterization of 6 children with glutamate-cysteine ligase deficiency causing hemolytic anemia.
Almusafri F, Elamin HE, Khalaf TE, Ali A, Ben-Omran T, El-Hattab AW.
Blood Cells Mol Dis. 2017;65:73-77.
Jaundice Hemolytic anemia
GCLC GCLM GSS
c|SUB|G|1772|A;RS#:755261110 c|SUB|T|514|A p|SUB|S|172|T p|SUB|S|591|N;RS#:755261110
Anemia, Hemolytic Biological Markers Child Child, Preschool Erythrocyte Indices Females Genetic Association Studies Glutamate-Cysteine Ligase Homo sapiens Infant Male Mutation Phenotype Single Nucleotide Polymorphism Whole Exome Sequencing
2
(27.2%)		 18024385
 Chronic non-spherocytic hemolytic anemia associated with severe neurological disease due to gamma-glutamylcysteine synthetase deficiency in a patient of Moroccan origin.
Manu Pereira M, Gelbart T, Ristoff E, Crain KC, Bergua JM, Lopez Lafuente A, Kalko SG, Garcia Mateos E, Beutler E, Vives Corrons JL.
Haematologica. 2007;92(11):e102-5.
Hemolytic anemia
GCLC
c|SUB|C|1241|T;RS#:34925335 p|SUB|P|414|L;RS#:34925335
Anemia, Hemolytic, Congenital Nonspherocytic Child, Preschool Glutamate-Cysteine Ligase Homo sapiens Homozygote Male Morocco Point Mutation
2
(27.2%)		 10515893
 The molecular basis of a case of gamma-glutamylcysteine synthetase deficiency.
Beutler E, Gelbart T, Kondo T, Matsunaga AT.
Blood. 1999;94(8):2890-4.
Hemolytic anemia
GCLC S100A12
c|SUB|A|1109|T;RS#:121907946 c|SUB|A||T p|SUB|H|370|L;RS#:121907946 rs121907946
Amino Acid Metabolism, Inborn Errors Amino Acid Sequence Amino Acid Substitution Anemia, Hemolytic Animals Base Sequence Catalytic Domain DNA Primers DNA, Complementary Erythrocytes Females Genes Glutamate-Cysteine Ligase Homo sapiens Homozygote Learning Disabilities Lymphocyte Molecular Sequence Data Mus Point Mutation Rattus Recombinant Fusion Proteins Species Specificity Transfection
        

Phenotype(s) retrieved from Orphanet

    Total: 15

HPO ID Term Frequency
HP:0001878 Hemolytic anemia Obligate (100%)
HP:0002503 Spinocerebellar tract degeneration Very frequent (99-80%)
HP:0003198 Myopathy Very frequent (99-80%)
HP:0003355 Aminoaciduria Very frequent (99-80%)
HP:0009830 Peripheral neuropathy Very frequent (99-80%)
HP:0000709 Psychosis Occasional (29-5%)
HP:0000952 Jaundice Occasional (29-5%)
HP:0001249 Intellectual disability Occasional (29-5%)
HP:0001251 Ataxia Occasional (29-5%)
HP:0001260 Dysarthria Occasional (29-5%)
HP:0001263 Global developmental delay Occasional (29-5%)
HP:0001347 Hyperreflexia Occasional (29-5%)
HP:0001433 Hepatosplenomegaly Occasional (29-5%)
HP:0001923 Reticulocytosis Occasional (29-5%)
HP:0010522 Dyslexia Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 1

HPO ID Term # of case reports
HP:0001878 Hemolytic anemia 2


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
GCLC glutamate-cysteine ligase catalytic subunit 2729