Dihydropyrimidinuria
Synonyms: Dihydropyrimidinase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dihydropyrimidinuria | Dihydropyrimidinase deficiency |
| fr | Dihydropyrimidinurie | Déficit en dihydropyrimidinase |
| de | Dihydropyrimidinurie | Dihydropyrimidinase-Mangel |
| es | Dihidropirimidinuria | Deficiencia de dihidropirimidinasa |
| it | Diidropirimidinuria | Deficit di diidropirimidinasi |
| nl | Dihydropyrimidinurie | Deficiëntie van dihydropyrimidinase |
| pt | Diidropirimidinúria | Deficiência de diidropirimidinase |
| pl | Dihydropirymidynuria | Niedobór dihydropirymidynazy |
| cs | Dihydropyrimidinurie | Deficit dihydropyrimidinázy |
| uk | Дигідропіримідинурія | Дефіцит дигідропіримідинази |
| zh | 二氢嘧啶尿 | 二氢嘧啶酶缺乏症 |
| tr | Dihidropirimidinüri | Dihidropirimidinaz eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 222748 | E | validated | |
| ICD-10 | E79.8 | NTBT | attributed | validated |
| ICD-11 | 5C55.1 | NTBT | index | validated |
| MONDO | 0009111 | E | validated | |
| UMLS | C3495551 | E | validated | |
| GARD | 12347 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:79193Disorder of pyrimidine metabolism
rare inborn errors of metabolism; rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DPYS | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:3013 | ENSG00000147647 | 613326 | 8q22.3 | dihydropyrimidinase | 9718352[PMID]_20362666[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26771602[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
20 annotations · validated 2025-07-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:6000119 | Elevated urinary dihydrothymine level | |
| HP:6000118 | Elevated urinary dihydrouracil level | |
| HP:6000331 | Elevated urinary thymine level | |
| HP:0001249 | Intellectual disability | |
| HP:0001250 | Seizure | |
| HP:0012127 | Uraciluria | |
| Occasional (29-5%) | ||
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000717 | Autism | |
| HP:0000280 | Coarse facial features | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0001510 | Growth delay | |
| HP:0001252 | Hypotonia | |
| HP:0000256 | Macrocephaly | |
| HP:0000252 | Microcephaly | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0011473 | Villous atrophy | |
| HP:0002013 | Vomiting | |
| Very rare (<4-1%) | ||
| HP:0002376 | Developmental regression | |
Annotation source: 38199782[PMID]_29054612[PMID]_20362666[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/38874
- This record as JSON: /data/d/38874.json