Dihydropyrimidinuria

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.

Clinical Features

Top most frequent phenotypes and symptoms related to Dihydropyrimidinuria

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Growth delay
  • Abnormal facial shape
  • Feeding difficulties
  • Delayed speech and language development
  • Talipes equinovarus
  • Diarrhea
  • Acidosis

And another 21 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Dihydropyrimidinuria Is also known as dihydropyrimidinase deficiency, dph deficiency, dihydropyrimidinuria, dpys deficiency.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Dihydropyrimidinuria Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Dihydropyrimidinase Deficiency.

By Laboratory Genetic Metabolic Diseases University of Amsterdam Academic Medical Center (Netherlands).

DPYS
Specificity
100 %
Genes
100 %
Dihydropyrimidinase deficiency via DPYS Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

DPYS
Specificity
100 %
Genes
100 %
Dihydropyrimidinuria.

By Centogene AG - the Rare Disease Company (Germany).

DPYS
Specificity
100 %
Genes
100 %
DPYS.

By Fulgent Genetics Fulgent Genetics (United States).

DPYS
Specificity
100 %
Genes
100 %
Comprehensive Metabolism Panel.

By Blueprint Genetics (Finland).

BCS1L, CNNM2, RYR1, CNNM4, SCN4A, SEC23B, SGSH, SI, SLC40A1, SLC12A3, SLC16A1, SLC17A5, SLC22A5, SLC25A1, SLC25A13, SLC25A15, SLC25A3, SLC25A4, SLC2A1, SLC2A2 , (...)

View the complete list with 411 more genes
Specificity
1 %
Genes
100 %
Metabolic Epilepsy Panel.

By Blueprint Genetics (Finland).

SLC25A1, SLC25A15, SLC2A1, BTD, SUOX, GPHN, L2HGDH, SLC39A8, SERAC1, ABAT, ETHE1, GNE, D2HGDH, DHFR, ADSL, DNM1L, DPYD, DPYS, PNPO, SLC46A1 , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %
Comprehensive Epilepsy Panel.

By Blueprint Genetics (Finland).

SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SCO1, AIMP1, ST3GAL3, ST3GAL5, SLC25A1, SLC25A15, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, KDM5C, SMS, SNAP25, SIK1 , (...)

View the complete list with 263 more genes
Specificity
1 %
Genes
100 %
Purine and Pyrimidine Metabolism Disorders Panel.

By Blueprint Genetics (Finland).

TPMT, UMOD, UMPS, XDH, GPHN, UPB1, NT5C3A, MOCOS, ADA, DHODH, ADSL, DPYD, DPYS, AMPD1, HPRT1, APRT, MOCS1, PNP, ATIC, PRPS1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TAKENOUCHI-KOSAKI SYNDROME; TKS RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME; RDJCSS GRISCELLI SYNDROME, TYPE 2; GS2 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME; ALPS MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE; MRXSC

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