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Details
Link-It Detail - Disease - Dihydropyrimidine Dehydrogenase Deficiency
Debug Stats
  • ### Total Build Time: 40 ms 21.047 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 382 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 460 bytes
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  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
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  • CONCEPT_RELATIONSHIPS gt=27 ms Completed: 27 ms rowSize= 13.414 KB
  • CONCEPT_GENES gt=2 ms Completed: 2 ms rowSize= 1.957 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.176 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
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Disease (1)
Dihydropyrimidine Dehydrogenase Deficiency C1959620
Definition (1)
A rare disorder characterized by an inborn error in pyrimidine metabolism. It results in the deficiency or complete absence of the enzyme dihydropyrimidine dehydrogenase. Individuals with this disorder may develop a severe toxicity reaction if they are exposed to the chemotherapeutic agent 5-fluorouracil.
Semantic Types (1)
Cell or Molecular Dysfunction (T049)
Parents (1)
img Purine-Pyrimidine Metabolism, Inborn Errors C0034139
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Purine-Pyrimidine Metabolism, Inborn Errors C0034139
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Purine-Pyrimidine Metabolism, Inborn Errors C0034139
Relationships (39)

Relation Types:
diso_​to_​chem : 2
diso_​to_​diso : 35
diso_​to_​gene : 2


Relationships:
none : 1
alias_​of : 1
associated_​with : 2
gene_​associated_​with_​disease : 2
manifestation_​of : 31
mapped_​to : 1
related_​to : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_CHEM10img Fluorouracil C0016360
DISO_to_CHEMassociated_withimg Dihydropyrimidine dehydrogenase C0058126
DISO_to_DISOassociated_withimg 270 CONGENITAL DEFICIENCIES C0333006
DISO_to_DISOmapped_toimg 5 alpha Fluorouracil toxicity C2930814
DISO_to_DISOrelated_toimg 5-FLUOROURACIL TOXICITY C0274576
DISO_to_DISOmanifestation_ofimg Abnormal ocular movements C1855559
DISO_to_DISOmanifestation_ofimg Agenesis of the corpus callosum (rare) C2749268
DISO_to_DISOmanifestation_ofimg Autistic Disorder C0004352
DISO_to_DISOmanifestation_ofimg Brain atrophy C0235946
DISO_to_DISOmanifestation_ofimg Caused by mutation in the dihydropyrimidine dehydrogenase gene (DPYD, 612779.0001). C2749272
DISO_to_DISOmanifestation_ofimg Coloboma C0009363
DISO_to_DISOmanifestation_ofimg Decreased or absent dihydropyrimidine dehydrogenase activity C2749271
DISO_to_DISOmanifestation_ofimg Delayed speech development C1836708
DISO_to_DISOalias_ofimg Dihydropyrimidine Dehydrogenase Deficiency C1959620
DISO_to_DISOmanifestation_ofimg Failure to Thrive C0015544
DISO_to_DISOmanifestation_ofimg Growth retardation C0151686
DISO_to_DISOmanifestation_ofimg Heterozygous mutation carriers show toxicity to 5-fluorouracil (5FU) C2749275
DISO_to_DISOmanifestation_ofimg Highly variable phenotype C1865012
DISO_to_DISOmanifestation_ofimg Hyperactive behavior C0424295
DISO_to_DISOmanifestation_ofimg Hyperkinesis C0424295
DISO_to_DISOmanifestation_ofimg Increased urinary thymine C2749270
DISO_to_DISOmanifestation_ofimg Increased urinary uracil C2749269
DISO_to_DISOmanifestation_ofimg Intellectual Disability C0025362
DISO_to_DISOmanifestation_ofimg LETHARGIC C0023380
DISO_to_DISOmanifestation_ofimg MICROCEPHALY C0025958
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanDPYD1806dihydropyrimidine dehydrogenase
img GAD, Score=1000, Pubmed Id: 15102667, UMLKSK CUI: C1959620
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1959620Dihydropyrimidine Dehydrogenase Deficiency0self