GLRX5 gene related symptoms and diseases

All the information presented here about the GLRX5 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to GLRX5 gene

Symptoms // Phenotype % Cases
Anemia Uncommon - Between 30% and 50% cases
Increased serum lactate Uncommon - Between 30% and 50% cases
Gait disturbance Uncommon - Between 30% and 50% cases
Hypoplasia of the corpus callosum Uncommon - Between 30% and 50% cases
Hypertonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with GLRX5 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Babinski sign
  • Myoclonus
  • Developmental regression
  • Irritability
  • Abnormal pyramidal sign
  • Unsteady gait
  • Left ventricular hypertrophy
  • Dysarthria

And 37 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to GLRX5 gene

Here you will find a list of rare diseases related to the GLRX5. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ADULT-ONSET AUTOSOMAL RECESSIVE SIDEROBLASTIC ANEMIA


Alternate names

ADULT-ONSET AUTOSOMAL RECESSIVE SIDEROBLASTIC ANEMIA Is also known as glrx5-related sideroblastic anemia

Description

Adult onset autosomal recessive sideroblastic anemia or GLRX5-related sideroblastic anemia is a very rare non-syndromic autosomal recessive pyridoxine-refractory sideroblastic anemia due to a splice defect of glutaredoxin-5 (GLRX5) described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes.

Most common symptoms of ADULT-ONSET AUTOSOMAL RECESSIVE SIDEROBLASTIC ANEMIA

  • Anemia
  • Hepatomegaly
  • Splenomegaly
  • Jaundice
  • Hepatosplenomegaly


More info about ADULT-ONSET AUTOSOMAL RECESSIVE SIDEROBLASTIC ANEMIA

SOURCES: ORPHANET OMIM

CHILDHOOD-ONSET SPASTICITY WITH HYPERGLYCINEMIA


Alternate names

CHILDHOOD-ONSET SPASTICITY WITH HYPERGLYCINEMIA Is also known as childhood-onset spasticity with variant non-ketotic hyperglycinemia, spasticity-ataxia-gait anomalies syndrome

Description

Childhood-onset spasticity with hyperglycinemia is a rare neurometabolic disease characterized by a childhood onset of progressive spastic ataxia associated with gait disturbances, hyperreflexia, extensor plantar responses and non-ketotic hyperglycinemia typically revealed by biochemical analysis. Additional signs of upper extremity spasticity, dysarthria, learning difficulties, poor concentration, nystagmus, optic atrophy and reduced visual acuity may also be associated.

Most common symptoms of CHILDHOOD-ONSET SPASTICITY WITH HYPERGLYCINEMIA

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Strabismus


More info about CHILDHOOD-ONSET SPASTICITY WITH HYPERGLYCINEMIA

SOURCES: ORPHANET OMIM


Potential gene panels for GLRX5 gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

More info about this panel

GLRX5 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 GLRX5 gene.

More info about this panel

Glutaredoxin 5 deficiency (GLRX5) Panel

Netherlands.

By VU University Medical Center Metabolic Unit, PX 1X 009

This panel specifically test the GLRX5 gene.

More info about this panel

Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the GLRX5 gene.

More info about this panel

Congenital sideroblastic anemia panel Panel

Germany.

By Centogene AG - the Rare Disease Company Congenital sideroblastic anemia panel that also includes the following genes: SLC19A2 PUS1 TRNT1 GLRX5 YARS2 SLC25A38 ALAS2 ABCB7

More info about this panel

Nuclear encoded Mitochondriopathies Panel Panel

Germany.

By CeGaT GmbH Nuclear encoded Mitochondriopathies Panel that also includes the following genes: RMRP BCS1L MRPL3 SACS SCO1 SCO2 SDHA SDHB SDHC SDHD

More info about this panel

Hereditary Sideroblastic Anemia Panel

Estonia.

By Asper Biogene Asper Biogene LLC Hereditary Sideroblastic Anemia that also includes the following genes: SLC19A2 PUS1 TRNT1 GLRX5 YARS2 SLC25A38 ALAS2 ABCB7 HSPA9

More info about this panel

NGS Panel for Congenital and Acquired Sideroblastic Anemia Panel

Spain.

By BLOODGENETICS BLOODGENETICS NGS Panel for Congenital and Acquired Sideroblastic Anemia that also includes the following genes: SF3B1 SLC19A2 PUS1 LARS2 TRNT1 GLRX5 NDUFB11 YARS2 STEAP3 SLC25A38

More info about this panel

Nuclear-Mito NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7

More info about this panel

GLRX5 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GLRX5 gene.

More info about this panel

Comprehensive Metabolism Panel Panel

Finland.

By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3

More info about this panel

Nonketotic Hyperglycinemia / Glycine Encephalopathy Panel Panel

Finland.

By Blueprint Genetics Nonketotic Hyperglycinemia / Glycine Encephalopathy Panel that also includes the following genes: SLC6A9 NFU1 LIAS GLRX5 BOLA3 LIPT1 GCSH GLDC AMT

More info about this panel

Sideroblastic Anemia , Panel Massive Sequencing (NGS) 6 Genes Panel

Spain.

By Reference Laboratory Genetics Sideroblastic Anemia , Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: PUS1 GLRX5 YARS2 SLC25A38 ALAS2 ABCB7

More info about this panel


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