PHYKPL gene related symptoms and diseases
All the information presented here about the PHYKPL gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PHYKPL gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Seizures | Very Common - Between 80% and 100% cases |
| Ataxia | Very Common - Between 80% and 100% cases |
| Growth delay | Very Common - Between 80% and 100% cases |
| Abnormality of the nervous system | Very Common - Between 80% and 100% cases |
| Cyanosis | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with PHYKPL gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Progressive neurologic deterioration
Rare diseases associated to PHYKPL gene
Here you will find a list of rare diseases related to the PHYKPL. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PHOSPHOHYDROXYLYSINURIA; PHLU
Description
Phosphohydroxylysinuria is characterized by elevated phosphohydroxylysine in the urine. There is no clinical phenotype associated with this finding other than the urinary metabolites. This was confirmed by population genetic studies performed by Veiga-da-Cunha et al. (2013) (Hamosh, 2013).
Most common symptoms of PHOSPHOHYDROXYLYSINURIA; PHLU
- Seizures
- Ataxia
- Growth delay
- Abnormality of the nervous system
- Cyanosis
More info about PHOSPHOHYDROXYLYSINURIA; PHLU
SOURCES: OMIM
Search interest in PHYKPL
Potential gene panels for PHYKPL gene
PHYKPL Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PHYKPL gene.
More info about this panel United States.
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