Details of Disease | DrugMAP

General Information of Disease (ID: DISF00XA)

Disease Name	Dihydropyrimidine dehydrogenase deficiency
Synonyms	DPD deficiency; Dpyd deficiency; hereditary thymine-uraciluria; thymine-Uraciluria, hereditary; pyrimidinemia, familial; familial pyrimidinemia; dihydrouracil dehydrogenase deficiency; DYPD deficiency; familial pyrimidinaemia; thymine-uracilurea; dihydropyrimidine dehydrogenase deficiency
Definition	Dihydropyrimidine dehydrogenase (DPD) deficiency isaconditionin which the body cannot break down the nucleotides thymine and uracil. DPD deficiency can have a wide range of severity; some individuals may have various neurological problems, while others have no signsand symptoms. Signs and symptoms in severely affected individuals begin in infancy and may include seizures, intellectual disability, microcephaly, increased muscle tone (hypertonia), delayed motor skills, and autistic behavior. All individuals with the condition, regardless of the presence or severity of symptoms, are at risk for severe, toxic reactions to drugs called fluoropyrimidines which are used to treat cancer. Individuals with no symptoms may be diagnosed only by laboratory testing or after exposure to fluoropyrimidines. DPD deficiency is caused by mutations in the DPYD gene and is inherited in an autosomal recessive manner.
Disease Hierarchy	DISJ79ZP: Osteochondrosis DIS2T2XO: Inborn disorder of pyrimidine metabolism DISKV001: Osteonecrosis of genetic origin DISF00XA: Dihydropyrimidine dehydrogenase deficiency
Disease Identifiers	MONDO ID MONDO_0010130 MESH ID D054067 UMLS CUI C1959620 OMIM ID 274270 MedGen ID 409522 Orphanet ID 1675 SNOMED CT ID 77365006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
DPYD	DESOEW1	Definitive	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DPYD	OTWRF2NR	Definitive	Autosomal recessive	[1]
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References

1	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.