Disease: Dihydropyrimidine Dehydrogenase Deficiency

Name Dihydropyrimidine Dehydrogenase Deficiency

Synonyms DPD DEFICIENCY , DPYD DEFICIENCY , PYRIMIDINEMIA, FAMILIAL | 5-FLUOROURACIL TOXICITY, INCLUDED , THYMINE-URACILURIA, HEREDITARY

Classification genetic, metabolism, systemic and rheumatological

Phenotypes Agenesis of corpus callosum; Autism; Autosomal recessive inheritance; Cerebral atrophy; Coloboma; Delayed speech and language development; Failure to thrive; Generalized hypotonia; Growth delay; Hyperactivity; Hypertonia; Intellectual disability; Lethargy; Microcephaly; Microphthalmia; Motor delay; Muscular hypotonia; Nystagmus; Optic atrophy; Reduced dihydropyrimidine dehydrogenase activity; Seizures; Tetraplegia

Associated Genes DPYD (Withdrawn symbols: DPD )

Mouse Orthologs Dpyd (Withdrawn symbols: AI315208, E330028L06Rik )

Source OMIM:274270 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)

Mouse Model: phenotype-based associations

Disease phenotypes are compared with mouse phenotypes, with each mouse model contributing one point to the diagram. Scores are computed according to phenotype specificity and cross-species similarity. X-axis shows the score of the single phenotype that contributes most. Y-axis shows an average among all phenotype matches. The curved line designates a visualization threshold; models below threshold are omitted, except when their genotype matches a disease-associated gene.

Mouse Models

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