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
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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


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


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