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.

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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

SOURCES: OMIM ORPHANET


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

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

Dihydropyrimidinuria Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the DPYS gene.

More info about this panel

DPYS Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the DPYS gene.

More info about this panel

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

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

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

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


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