Dihydropyrimidine dehydrogenase deficiency
Synonyms: Familial pyrimidinemia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
A rare disorder of pyrimidine metabolism characterized by a variable phenotype ranging from absence of symptoms to severe neurological involvement with developmental delay, intellectual disability, and seizures. Additional signs and symptoms may include hypotonia, microcephaly, ocular abnormalities (such as microphthalmia, nystagmus, and strabismus), and autistic behavior, among others. Analysis of urine typically shows high levels of uracil and thymine. Patients are at risk of suffering from severe toxicity after the administration of the anti-neoplastic agent 5-fluorouracil.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dihydropyrimidine dehydrogenase deficiency | Familial pyrimidinemia |
| fr | Déficit en dihydropyrimidine déshydrogénase | Pyrimidinémie familiale |
| de | Dihydropyrimidin-Dehydrogenase-Mangel | Pyrimidinämie, familiäre |
| es | Deficiencia de dihidropirimidina deshidrogenasa | |
| it | Deficit di diidropirimidina deidrogenasi | Pirimidinemia familiare |
| nl | Deficiëntie van dihydropyrimidine-dehydrogenase | Familiale pyrimidinemie |
| pt | Deficiência de diidropirimidina desidrogenase | Pirimidinemia familiar |
| pl | Niedobór dyhydrogenazy dihydropirymidynowej | Pirymidynemia rodzinna |
| cs | Deficit dihydropyrimidin dehydrogenázy | Familiární pyrimidinémie |
| uk | Дефіцит дигідропіримідиндегідрогенази | Сімейна піримідинемія |
| zh | 二氢嘧啶脱氢酶缺乏症 | 家族性嘧啶血症 |
| tr | Dihidropirimidin dehidrojenaz eksikliği | Ailesel pirimidinemi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 274270 | E | validated | |
| ICD-10 | E79.8 | NTBT | attributed | validated |
| ICD-11 | 5C55.1 | NTBT | index | validated |
| MONDO | 0010130 | E | validated | |
| MeSH | D054067 | E | validated | |
| UMLS | C1959620 | E | validated | |
| GARD | 19 | E | validated | |
| MedDRA | 10052622 | 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 (2):
- ORPHA:79193Disorder of pyrimidine metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DPYD | Disease-causing germline mutation(s) in | Assessed | HGNC:3012 | ENSG00000188641 | 612779 | 1p21.3 | dihydropyrimidine dehydrogenase |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
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
55 annotations · validated 2021-07-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003654 | Reduced dihydropyrimidine dehydrogenase activity | |
| HP:0012127 | Uraciluria | |
| Frequent (79-30%) | ||
| HP:0002353 | EEG abnormality | |
| HP:0008947 | Floppy infant | |
| HP:0001263 | Global developmental delay | |
| HP:0010841 | Multifocal epileptiform discharges | |
| HP:0001250 | Seizure | |
| HP:0001328 | Specific learning disability | |
| Occasional (29-5%) | ||
| HP:0012433 | Abnormal social behavior | |
| HP:0000478 | Abnormality of the eye | |
| HP:0001344 | Absent speech | |
| HP:0000718 | Aggressive behavior | |
| HP:0000463 | Anteverted nares | |
| HP:0001284 | Areflexia | |
| HP:0000483 | Astigmatism | |
| HP:0000729 | Autistic behavior | |
| HP:0002059 | Cerebral atrophy | |
| HP:0006191 | Deep palmar crease | |
| HP:0002002 | Deep philtrum | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0002656 | Epiphyseal dysplasia | |
| HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0011153 | Focal motor seizure | |
| HP:0000218 | High palate | |
| HP:0030890 | Hyperintensity of cerebral white matter on MRI | |
| HP:0001347 | Hyperreflexia | |
| HP:0000316 | Hypertelorism | |
| HP:0001276 | Hypertonia | |
| HP:0002540 | Inability to walk | |
| HP:0002187 | Intellectual disability, profound | |
| HP:0000737 | Irritability | |
| HP:0009748 | Large earlobe | |
| HP:0000527 | Long eyelashes | |
| HP:0000256 | Macrocephaly | |
| HP:0001104 | Macular hypoplasia | |
| HP:0000252 | Microcephaly | |
| HP:0000482 | Microcornea | |
| HP:0002983 | Micromelia | |
| HP:0000545 | Myopia | |
| HP:0000639 | Nystagmus | |
| HP:0000194 | Open mouth | |
| HP:0030939 | Palpebral thickening | |
| HP:0002033 | Poor suck | |
| HP:0011220 | Prominent forehead | |
| HP:0005274 | Prominent nasal tip | |
| HP:0004887 | Respiratory failure requiring assisted ventilation | |
| HP:0000278 | Retrognathia | |
| HP:0006863 | Severe expressive language delay | |
| HP:0011344 | Severe global developmental delay | |
| HP:0001799 | Short nail | |
| HP:0000470 | Short neck | |
| HP:0000486 | Strabismus | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 19296131[PMID]_28275972[PMID]_16176880[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1675
- This record as JSON: /data/d/1675.json