GCLC gene related symptoms and diseases

All the information presented here about the GCLC gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to GCLC gene

Symptoms // Phenotype % Cases
Anemia Uncommon - Between 30% and 50% cases
Myopathy Uncommon - Between 30% and 50% cases
Abnormality of metabolism/homeostasis Uncommon - Between 30% and 50% cases
Hemolytic anemia Uncommon - Between 30% and 50% cases
Polyneuropathy Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with GCLC gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Spinocerebellar tract degeneration
  • Nonspherocytic hemolytic anemia
  • Glutathione synthetase deficiency
  • Late-onset spinocerebellar degeneration
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Rare diseases associated to GCLC gene

Here you will find a list of rare diseases related to the GCLC. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


GLUTAMATE-CYSTEINE LIGASE DEFICIENCY


Alternate names

GLUTAMATE-CYSTEINE LIGASE DEFICIENCY Is also known as gamma-glutamylcysteine synthetase deficiency

Description

Gamma-glutamylcysteine synthetase deficiency is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported.

Most common symptoms of GLUTAMATE-CYSTEINE LIGASE DEFICIENCY

  • Anemia
  • Myopathy
  • Abnormality of metabolism/homeostasis
  • Hemolytic anemia
  • Polyneuropathy


More info about GLUTAMATE-CYSTEINE LIGASE DEFICIENCY

SOURCES: ORPHANET OMIM MESH

MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO



More info about MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO

SOURCES: OMIM


Potential gene panels for GCLC gene

Red Blood Cell Enzymopathies Panel by Next Generation Sequencing (NGS) Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Red Blood Cell Enzymopathies Panel by Next Generation Sequencing (NGS) that also includes the following genes: TPI1 NT5C3A AK1 G6PD ALDOA GCLC GPI GPX1 GSS HK1

More info about this panel

Hemolytic Anemia Panel by next-generation sequencing (NGS) Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Hemolytic Anemia Panel by next-generation sequencing (NGS) that also includes the following genes: RHAG SEC23B SLC2A1 SPTA1 SPTB TPI1 XK ATP11C ABCG5 ABCG8

More info about this panel

GCLC Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the GCLC gene.

More info about this panel

GCLC Deletion/duplication analysis Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the GCLC gene.

More info about this panel

Hemolytic Anemia Deletion/Duplication Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Hemolytic Anemia Deletion/Duplication Panel that also includes the following genes: RHAG SEC23B SLC2A1 SPTA1 SPTB TPI1 XK ABCG5 ABCG8 LPIN2

More info about this panel

Red Blood Cell Enzymopathies Deletion/Duplication Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Red Blood Cell Enzymopathies Deletion/Duplication Panel that also includes the following genes: TPI1 NT5C3A AK1 G6PD ALDOA GCLC GPI GPX1 GSS HK1

More info about this panel

Ataxia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2

More info about this panel

Hereditary Hemolytic Anemia Panel, Sequencing Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Hereditary Hemolytic Anemia Panel, Sequencing that also includes the following genes: SLCO1B1 SLCO1B3 SPTA1 SPTB TPI1 UGT1A1 UGT1A6 UGT1A7 NT5C3A ADA

More info about this panel

RBC Enzymopathies (NGS panel of 14 genes) Panel

Portugal.

By CGC Genetics RBC Enzymopathies (NGS panel of 14 genes) that also includes the following genes: TPI1 NT5C3A AK1 G6PD ALDOA GCLC GPI GPX1 GSS HK1

More info about this panel

Gamma-glutamylcysteine synthetase deficiency (sequence analysis of GCLC gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the GCLC gene.

More info about this panel

NGS Panel for Hereditary hemolytic anemia including membranopathies (spherocytosis, elliptocytosis, xerocytosis, stomatocytosis, pyropoikylocytosis) and enzymopathies Panel

Spain.

By BLOODGENETICS BLOODGENETICS NGS Panel for Hereditary hemolytic anemia including membranopathies (spherocytosis, elliptocytosis, xerocytosis, stomatocytosis, pyropoikylocytosis) and enzymopathies that also includes the following genes: RHAG BPGM SLC2A1 SPTA1 SPTB TPI1 UGT1A1 XK ABCG5 ABCG8

More info about this panel

Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies Panel

United States.

By Mayo Clinic Genetic Testing Laboratories Mayo Clinic Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies that also includes the following genes: RHAG RPS19 SEC23B SLC2A1 SPTA1 SPTB TPI1 UGT1A1 XK CD59

More info about this panel

GCLC Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GCLC gene.

More info about this panel


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