Dihydropyrimidine dehydrogenase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: PYRIMIDINEMIA, FAMILIAL 5-&#64
FLUOROURACIL TOXICITY, INCLUDED
DPYD DEFICIENCY
THYMINE-URACILURIA, HEREDITARY
DPD DEFICIENCY
Familial pyrimidinemia
Number of Symptoms 30
OrphanetNr: 1675
OMIM Id: 274270
ICD-10: E79.8
UMLs: C1959620
MeSH: D054067
MedDRA: 10052622
Snomed: 77365006

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT
Disorder of pyrimidine metabolism
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000568) Microphthalmia 183 / 7739
2
 (HPO:0000252) Microcephaly 832 / 7739
3
 (HPO:0000648) Optic atrophy 238 / 7739
4
 (HPO:0000639) Nystagmus 555 / 7739
5
 (HPO:0000589) Coloboma 47 / 7739
6
 (HPO:0000496) Abnormality of eye movement 79 / 7739
7
 (HPO:0000750) Delayed speech and language development 197 / 7739
8
 (HPO:0001254) Lethargy 104 / 7739
9
 (HPO:0002445) Tetraplegia 26 / 7739
10
 (HPO:0001270) Motor delay 322 / 7739
11
 (HPO:0001250) Seizures 1245 / 7739
12
 (HPO:0000752) Hyperactivity 140 / 7739
13
 (HPO:0000717) Autism 108 / 7739
14
 (HPO:0001249) Intellectual disability 1089 / 7739
15
 (HPO:0001276) Hypertonia 317 / 7739
16
 (HPO:0001510) Growth delay 295 / 7739
17
 (HPO:0001508) Failure to thrive 454 / 7739
18
 (HPO:0003654) Reduced dihydropyrimidine dehydrogenase activity 2 / 7739
19
 (HPO:0010547) Muscle flaccidity 466 / 7739
20
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
21
 (HPO:0001324) Muscle weakness 859 / 7739
22
 (HPO:0001252) Muscular hypotonia 990 / 7739
23
 (OMIM) Increased urinary thymine 1 / 7739
24
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
25
 (OMIM) Increased urinary uracil 1 / 7739
26
 (HPO:0002500) Abnormality of the cerebral white matter 73 / 7739
27
 (HPO:0001274) Agenesis of corpus callosum rare [HPO:skoehler] 142 / 7739
28
 (HPO:0002059) Cerebral atrophy 171 / 7739
29
 (OMIM) Decreased or absent dihydropyrimidine dehydrogenase activity 1 / 7739
30
 (HPO:0003812) Phenotypic variability 129 / 7739

Associated genes:

DPYD;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Dihyropyrimidine dehydrogenase deficiency shows large phenotypic variability, ranging from no symptoms to a convulsive disorder with motor and mental retardation in homozygous patients. In addition, homozygous and heterozygous mutation carriers can develop severe toxicity after the administration of the ...
Clinical Description OMIM Berger et al. (1984) presented findings in 3 unrelated patients (2 boys and 1 girl) with a nonspecific clinical picture of cerebral dysfunction and persistent urinary excretion of excessive amounts of uracil, thymine, and 5-hydroxymethyluracil. The excretory pattern suggested ...
Molecular genetics OMIM In a Dutch patient with dihydropyrimidine dehydrogenase deficiency reported by Van Gennip et al. (1994), Meinsma et al. (1995) identified a homozygous truncating mutation in the DPYD gene (IVS14+1G-A; 612779.0001). Both unaffected parents and 1 unaffected sib were heterozygous ...
Population genetics OMIM Sumi et al. (1998) identified asymptomatic dihydropyrimidinuria in 2 of 21,200 healthy Japanese urine samples, yielding a prevalence of approximately 1 in 10,000 births.