Dihydropyrimidinuria

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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.

Genes related to Dihydropyrimidinuria

DPYS

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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

— Currently we don't have prevalence information about this disease (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.

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 Panel complete gene list BCS1L, CNNM2, RYR1, CNNM4, SCN4A, SEC23B, SGSH, SI, SLC40A1, SLC12A3, SLC16A1, SLC17A5, SLC22A5, SLC25A1, SLC25A13, SLC25A15, SLC25A3, SLC25A4, SLC2A1, SLC2A2, SLC35A1, SLC35A2, SLC3A1, SLC5A1, SLC6A8, SLC6A9, SLC7A7, SLC7A9, SMPD1, BTD, SPG7, SSR4, SUCLA2, SUCLG1, SUOX, TAT, TAZ, TWNK, HNF1A, HNF1B, TCF4, TCN2, TFR2, TIMM8A, TK2, ACOX1, TPMT, TREX1, MYOT, UCP2, UMOD, UMPS, UROD, UROS, WFS1, XDH, ZMPSTE24, LPIN1, MCOLN1, FBXL4, GFM1, CACNA1S, SLC25A20, NPC2, AMN, ADAMTSL2, COG5, CASR, CAV1, CAV3, GPHN, CBS, HAMP, NBAS, ALG9, LDB3, BSCL2, RBCK1, SAMHD1, APTX, SUGCT, NFU1, UPB1, LIAS, BSND, CD320, MCEE, COQ8A, MFN2, NIPA2, SLC39A4, RRM2B, NGLY1, SARS2, ACY1, PDSS1, NT5C3A, TRPM6, NAGS, FKRP, MOCOS, ALG1, ATP6V0A2, RNASEH2A, ADA, COG4, COG6, COG7, COG8, MMAA, IFIH1, TBC1D4, MMAB, ALG12, COQ4, GLRX5, CLCN1, SLC35C1, B3GLCT, COQ6, CLCNKB, CLDN16, SUMF1, CLDN19, L2HGDH, DHDDS, SLC25A26, TPP1, CLN3, CLN5, CLN6, CLN8, SERAC1, DYM, PDHX, ACAD9, NHLRC1, ANTXR2, AGK, COL11A2, COQ7, ADAR, GMPPA, PEX26, GNPTG, LMBRD1, PDSS2, ALG3, ALG6, ALG2, ALG8, CPOX, CPT1A, CPT2, DOLK, GNE, PTF1A, RNASEH2C, BOLA3, MMACHC, FLAD1, FAM111A, MOGS, CTH, CTNS, MMADHC, COQ2, CTSC, CTSD, COQ9, SLC30A10, CTSK, TMEM126A, TANGO2, CUBN, ANO10, RNASEH2B, ADK, SRD5A3, TMEM70, HGSNAT, C12orf65, FOXRED1, DBT, DDOST, ACSF3, ANO5, SLC6A19, NDUFAF2, D2HGDH, MFSD8, DGUOK, DHCR7, DHODH, COQ5, MAGT1, DLD, ADSL, LIPT1, GNPTAB, DNM1L, ISCU, DPAGT1, DPM1, DPM2, DPM3, DPYD, DPYS, ATP13A2, RFT1, TUSC3, SLC46A1, STT3B, CLPB, TMEM165, PNPLA2, ALG13, DYSF, EBP, TYMP, ECHS1, AGA, AGL, EGF, ALG11, AGPAT2, AGPS, ENO3, AGXT, EPM2A, AHCY, ETFA, ETFB, ETFDH, FAH, FBP1, FKTN, FECH, FH, FLNA, FLNB, FMO3, FOLR1, AKT2, ALAD, ALAS2, FUCA1, FXYD2, G6PC, SLC37A4, GAA, ALDH5A1, GALC, GALE, GALK1, GALNS, GALT, GAMT, ALDOA, ALDOB, GATM, GBA, GBE1, GCDH, GCH1, GCK, GCSH, CBLIF, GLA, GLB1, GLDC, GLUD1, GLUL, GM2A, GNMT, GNPAT, GNS, GPC3, AMACR, AMPD1, GUSB, GYG1, GYS1, GYS2, AMT, HADH, HSD17B10, HADHA, HADHB, HCFC1, HEXA, HEXB, HFE, HJV, HGD, HIBCH, HLCS, HMBS, HMGCL, HMGCS2, HNF4A, HPD, HPRT1, HRAS, HSD17B4, HYAL1, IDH2, IDS, IDUA, ABCC8, INSR, ABCD1, PDX1, STT3A, IVD, KCNA1, KCNJ10, KCNJ11, APRT, KCNJ2, LAMA2, LAMP2, LCT, LDHA, COG1, LIPA, LIPE, ARG1, LMNA, ABCD3, ABCD4, MAN1B1, MAN2B1, MANBA, MCCC1, MCCC2, MGAT2, ARSA, ARSB, MLYCD, MOCS1, MOCS2, MPDU1, MPI, MPV17, ASAH1, MTHFR, ASL, MTR, MTRR, TRIM37, MMUT, ASPA, MYH3, ASS1, NAGA, NAGLU, NDUFS1, NEU1, PNP, NPC1, ATIC, OAT, OPA1, OPA3, OTC, OXCT1, PAH, PC, PCBD1, PCCA, PCCB, ACAD8, ATP7B, PCK1, ALDH7A1, ACADL, PDHA1, PDHB, PEPD, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PEX7, PFKM, PGAM2, PGK1, ACADM, AUH, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PHYH, SERPINA1, ACADS, PLIN1, ACADSB, PMM2, POLG, POLG2, ACADVL, PPARG, B4GALT1, CTSA, PPOX, ACAT1, PPT1, PRKAG2, PRODH, PRPS1, PSAP, CAVIN1, PTS, PEX19, PEX2, PEX5, PYGL, PYGM, QDPR, RAI1, BCKDHA, BCKDHB, REN 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 Panel complete gene list SLC25A1, SLC25A15, SLC2A1, BTD, SUOX, GPHN, L2HGDH, SLC39A8, SERAC1, ABAT, ETHE1, GNE, D2HGDH, DHFR, ADSL, DNM1L, DPYD, DPYS, PNPO, SLC46A1, AGA, ETFA, ETFB, ETFDH, FH, ALDH5A1, GAMT, GCDH, GCH1, GLDC, AMT, HIBCH, ARG1, MOCS1, MTHFR, ALDH7A1, PGK1, POLG, PRODH, PTS, QDPR 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 Panel complete gene list SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SCO1, AIMP1, ST3GAL3, ST3GAL5, SLC25A1, SLC25A15, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, KDM5C, SMS, SNAP25, SIK1, SOX10, BTD, SPTAN1, CDKL5, STXBP1, SUOX, SYN1, SYNGAP1, SYNJ1, TAF1, TBCD, TBCE, TCF4, MED12, TREX1, TSC1, TSC2, UBE2A, UBE3A, WWOX, YY1, GFM1, SLC12A5, CNTNAP2, CACNA1A, CACNA1H, CACNB4, CERS1, PCDH19, ARHGEF9, GTPBP3, ZEB2, PIGT, CASK, CASR, GPHN, LRPPRC, NDUFAF5, PLCB1, SAMHD1, DNAJC5, SLC19A3, NFU1, EFHC1, RAB39B, SCARB2, MRPL44, PRICKLE1, MLC1, GJC2, ARX, SPATA5, PHF6, PRIMA1, DEPDC5, RNASEH2A, STX1B, KCNT1, MAGI2, VPS13A, CHD2, DOCK7, CHRNA2, CHRNA4, CHRNB2, SLC25A22, CLCN2, CLCN4, NUBPL, SUMF1, MBD5, APOPT1, L2HGDH, TPP1, CLN3, CLN5, ZFYVE26, CLN6, TUBB4A, CLN8, SLC39A8, NACC1, HACE1, SERAC1, FARS2, RMND1, FA2H, WDR26, NHLRC1, RNASET2, RNF216, BRAT1, KCTD7, COL4A1, ADAR, COX15, COX6B1, ABAT, SLC13A5, PIGO, UBA5, ETHE1, CPT2, GNE, RNASEH2C, CSF1R, NECAP1, FAM126A, CSTB, MARS2, CTSD, CTSF, DARS2, CUL4B, OFD1, RNASEH2B, TTC19, PIGV, CYP27A1, CTC1, FAR1, HEPACAM, UNC80, DARS, FOXRED1, DCX, DDC, IBA57, LYRM7, TBCK, D2HGDH, MFSD8, DHFR, NDUFAF6, WDR45, SZT2, IQSEC2, ADSL, TBC1D24, EARS2, ROGDI, TBL1XR1, MTFMT, DNM1, DNM1L, HECW2, POLR3A, DPYD, DPYS, ATP13A2, CC2D1A, PNPO, PYCR2, POLR3B, PRRT2, SLC46A1, ALG13, AFG3L2, ECHS1, ECM1, AGA, EEF1A2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, SNORD118, SDHAF1, EPM2A, ETFA, ETFB, ETFDH, FGF12, FH, FLNA, FOLR1, FOXG1, MTOR, ALDH3A2, GABRA1, ALDH5A1, GABRB2, GABRB3, GABRG2, GALC, GAMT, GCDH, GCH1, GFAP, GLB1, GLDC, GLRB, GNAO1, GNB1, GOSR2, AMACR, GRIA3, GRIK2, GRIN1, GRIN2A, GRIN2B, GRN, AMT, HSD17B10, HCN1, HTT, HIBCH, HNRNPU, HSPD1, AP4B1, AP4E1, AP4M1, AP4S1, ABCD1, KCNA1, KCNA2, KCNB1, KCNC1, KCNH1, KCNQ2, KCNQ3, LGI1, ARG1, LMNB1, MECP2, MEF2C, ARSA, MOCS1, ASAH1, MTHFR, ASNS, ASPA, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NEU1, NOTCH3, NRXN1, ATP1A3, OPHN1, AIFM1, ALDH7A1, ATRX, KIF1A, PGK1, SERPINI1, PIGA, PIGN, PLP1, PNKP, POLG, PPT1, PRODH, HTRA1, PSAP, PTS, PURA, QDPR, RARS, RELN 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 Panel complete gene list TPMT, UMOD, UMPS, XDH, GPHN, UPB1, NT5C3A, MOCOS, ADA, DHODH, ADSL, DPYD, DPYS, AMPD1, HPRT1, APRT, MOCS1, PNP, ATIC, PRPS1, REN Specificity 5 % Genes 100 %

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Sources and references

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