DPYS gene related symptoms and diseases
All the information presented here about the DPYS gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to DPYS gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Short distal phalanx of finger | Very Common - Between 80% and 100% cases |
| Extrapyramidal dyskinesia | Very Common - Between 80% and 100% cases |
| Intractable diarrhea | Very Common - Between 80% and 100% cases |
| Morphological abnormality of the pyramidal tract | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with DPYS gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Reduced consciousness/confusion
- Excessive daytime somnolence
- Infantile spasms
- Plagiocephaly
- Short phalanx of finger
- Cholestasis
- Hip dysplasia
- Brain atrophy
And 18 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to DPYS gene
Here you will find a list of rare diseases related to the DPYS. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
DIHYDROPYRIMIDINURIA
Alternate names
DIHYDROPYRIMIDINURIA Is also known as dihydropyrimidinase deficiency, dph deficiency, dihydropyrimidinuria, dpys deficiency
Description
Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity.
Most common symptoms of DIHYDROPYRIMIDINURIA
- Intellectual disability
- Seizures
- Global developmental delay
- Growth delay
- Abnormal facial shape
More info about DIHYDROPYRIMIDINURIA
Search interest in DPYS
Potential gene panels for DPYS gene
Dihydropyrimidinase Deficiency Panel
Netherlands.
By Laboratory Genetic Metabolic Diseases University of Amsterdam Academic Medical Center
This panel specifically test the DPYS gene.
More info about this panel Netherlands.
Dihydropyrimidinase deficiency via DPYS Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the DPYS gene.
More info about this panel United States.
Dihydropyrimidinuria Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the DPYS gene.
More info about this panel Germany.
DPYS Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the DPYS gene.
More info about this panel United States.
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.
Metabolic Epilepsy Panel Panel
Finland.
By Blueprint Genetics Metabolic Epilepsy Panel that also includes the following genes: SLC25A1 SLC25A15 SLC2A1 BTD SUOX GPHN L2HGDH SLC39A8 SERAC1 ABAT
More info about this panel Finland.
Comprehensive Epilepsy Panel Panel
Finland.
By Blueprint Genetics Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SCO1 AIMP1 ST3GAL3 ST3GAL5 SLC25A1
More info about this panel Finland.
Purine and Pyrimidine Metabolism Disorders Panel Panel
Finland.
By Blueprint Genetics Purine and Pyrimidine Metabolism Disorders Panel that also includes the following genes: TPMT UMOD UMPS XDH GPHN UPB1 NT5C3A MOCOS ADA DHODH
More info about this panel Finland.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like BARD1 EBF3 TDO2 WIPF1 KAT6B NPRL3 FOXP3