GLYCTK gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to GLYCTK gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Aminoaciduria Very Common - Between 80% and 100% cases
Autistic behavior Very Common - Between 80% and 100% cases
Metabolic acidosis Very Common - Between 80% and 100% cases
Tetraplegia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with GLYCTK gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Delayed myelination
  • Aciduria
  • Spastic tetraplegia
  • Hypsarrhythmia
  • Optic nerve hypoplasia
  • Neonatal hypotonia
  • Neonatal respiratory distress
  • Opisthotonus

And 27 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to GLYCTK gene

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


D-GLYCERIC ACIDURIA


Alternate names

D-GLYCERIC ACIDURIA Is also known as d-glyceric acidemia, d-glycerate kinase deficiency, glycerate kinase deficiency

Description

D-glyceric aciduria is a metabolic disorder characterized by D-glyceric acid excretion. It has been described in several patients. Clinical findings include progressive neurological impairment, hypotonia, seizures, failure to thrive and metabolic acidosis. Some patients had hyperglycinemia secondary to the organic acidemia. However, some of the reported patients were asymptomatic. D-glyceric aciduria is caused by D-glycerate kinase deficiency. The GLYCTK gene has been mapped to 3p21.

Most common symptoms of D-GLYCERIC ACIDURIA

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


More info about D-GLYCERIC ACIDURIA

SOURCES: MESH OMIM ORPHANET


Potential gene panels for GLYCTK 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

CentoICU platinum plus Panel

Germany.

By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

New Born testing (CentoICU) Panel

Germany.

By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

D-glyceric aciduria Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the GLYCTK gene.

More info about this panel

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

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

GLYCTK Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GLYCTK gene.

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PRDX2

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more