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.
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
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
Search interest in GLRX5
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 United States.
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 United States.
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 Netherlands.
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 Germany.
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 Germany.
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 Germany.
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 Estonia.
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 Spain.
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 United States.
GLRX5 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GLRX5 gene.
More info about this panel United States.
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 Finland.
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 Finland.
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 Spain.
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