loading...| Preferred Name |
dihydropyrimidine dehydrogenase deficiency |
|
| Synonyms |
familial pyrimidinemia dihydrouracil dehydrogenase deficiency DYPD deficiency familial pyrimidinaemia thymine-uracilurea dihydropyrimidine dehydrogenase deficiency DPD deficiency Dpyd deficiency hereditary thymine-uraciluria thymine-Uraciluria, hereditary pyrimidinemia, familial |
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| Definitions |
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. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0010130 |
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| closeMatch | ||
| database_cross_reference |
MESH:D054067 Orphanet:1675 UMLS:C1959620 DOID:14218 ICD9:277.2 NCIT:C84672 GARD:19 MedDRA:10052622 SCTID:77365006 OMIM:274270 |
|
| 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. |
|
| exactMatch |
http://purl.obolibrary.org/obo/DOID_14218 http://linkedlifedata.com/resource/umls/id/C1959620 http://purl.obolibrary.org/obo/Orphanet_1675 http://identifiers.org/snomedct/77365006 http://identifiers.org/mesh/D054067 |
|
| has_exact_synonym |
familial pyrimidinemia dihydrouracil dehydrogenase deficiency DYPD deficiency familial pyrimidinaemia thymine-uracilurea dihydropyrimidine dehydrogenase deficiency |
|
| has_related_synonym |
DPD deficiency Dpyd deficiency hereditary thymine-uraciluria thymine-Uraciluria, hereditary pyrimidinemia, familial |
|
| id |
MONDO:0010130 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_disease http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare |
|
| label |
dihydropyrimidine dehydrogenase deficiency |
|
| notation |
MONDO:0010130 |
|
| prefLabel |
dihydropyrimidine dehydrogenase deficiency |
|
| see also |
https://rarediseases.info.nih.gov/diseases/19/dihydropyrimidine-dehydrogenase-deficiency |
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| subClassOf |