GLUL gene related symptoms and diseases
All the information presented here about the GLUL gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to GLUL gene
Symptoms // Phenotype | % Cases |
---|---|
Seizures | Very Common - Between 80% and 100% cases |
Bradycardia | Very Common - Between 80% and 100% cases |
Erythema | Very Common - Between 80% and 100% cases |
Skin rash | Very Common - Between 80% and 100% cases |
Severe global developmental delay | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with GLUL gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Micromelia
- Thin vermilion border
- Brain atrophy
- Elbow flexion contracture
- Camptodactyly
- Abnormal intestine morphology
- Hyperammonemia
- CNS hypomyelination
And 22 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to GLUL gene
Here you will find a list of rare diseases related to the GLUL. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CONGENITAL BRAIN DYSGENESIS DUE TO GLUTAMINE SYNTHETASE DEFICIENCY
Alternate names
CONGENITAL BRAIN DYSGENESIS DUE TO GLUTAMINE SYNTHETASE DEFICIENCY Is also known as glutamine synthase deficiency, congenital systemic, inherited gs deficiency, inherited glutamine synthetase deficiency
Description
Congenital glutamine deficiency is a severe autosomal recessive disorder characterized by onset at birth of encephalopathy, lack of normal development, seizures, and hypotonia associated with variable brain abnormalities (summary by Haberle et al., 2011).
Most common symptoms of CONGENITAL BRAIN DYSGENESIS DUE TO GLUTAMINE SYNTHETASE DEFICIENCY
- Seizures
- Global developmental delay
- Generalized hypotonia
- Muscular hypotonia
- Low-set ears
More info about CONGENITAL BRAIN DYSGENESIS DUE TO GLUTAMINE SYNTHETASE DEFICIENCY
Search interest in GLUL
Potential gene panels for GLUL gene
Glutamine deficiency, congenital Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the GLUL gene.
More info about this panelSingle gene testing GLUL Panel
By CeGaT GmbH
This panel specifically test the GLUL gene.
More info about this panelIntellectual Disability NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panelGLUL Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GLUL gene.
More info about this panelHyperammonemia and Urea Cycle Disorder Panel Panel
By Blueprint Genetics Hyperammonemia and Urea Cycle Disorder Panel that also includes the following genes: SLC22A5 SLC25A13 SLC25A15 SLC7A7 SUCLA2 SUCLG1 UMPS SLC25A20 NBAS NAGS
More info about this panelComprehensive Metabolism Panel Panel
By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
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