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.
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
Search interest in GLYCTK
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 United States.
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 Germany.
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 Germany.
D-glyceric aciduria Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the GLYCTK 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.
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.
GLYCTK Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GLYCTK gene.
More info about this panel United States.
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