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

SOURCES: OMIM MESH ORPHANET


Potential gene panels for GLUL gene

Glutamine deficiency, congenital Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the GLUL gene.

More info about this panel
Germany.

Single gene testing GLUL Panel

Germany.

By CeGaT GmbH

This panel specifically test the GLUL gene.

More info about this panel
Germany.

Intellectual Disability NGS Panel Panel

United States.

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 panel
United States.

GLUL Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GLUL gene.

More info about this panel
United States.

Hyperammonemia and Urea Cycle Disorder Panel Panel

Finland.

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 panel
Finland.

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.

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